ClinVar Miner

List of variants in gene EVC reported as likely benign for Ellis-van Creveld syndrome; Curry-Hall syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 878
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00196
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00106
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724 0.00085
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_153717.3(EVC):c.802-15_802-12del rs386671011 0.00069
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_153717.3(EVC):c.1304G>A (p.Arg435His) rs138898694 0.00054
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln) rs146739019 0.00032
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00031
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00028
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.174+16A>G rs1049950431 0.00023
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_153717.3(EVC):c.617+17A>G rs113726930 0.00019
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr) rs144029167 0.00019
NM_153717.3(EVC):c.1495C>G (p.Leu499Val) rs139157869 0.00017
NM_153717.3(EVC):c.702+16C>T rs180960931 0.00017
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser) rs183114391 0.00016
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00014
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp) rs150425919 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_153717.3(EVC):c.702+17G>T rs559719173 0.00014
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00013
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00013
NM_153717.3(EVC):c.2583G>A (p.Arg861=) rs145317746 0.00012
NM_153717.3(EVC):c.1099-20C>T rs772783476 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn) rs199611644 0.00011
NM_153717.3(EVC):c.540G>A (p.Ser180=) rs200120462 0.00011
NM_153717.3(EVC):c.77C>T (p.Ala26Val) rs1035520087 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00010
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2349C>T (p.Ser783=) rs138114051 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00007
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646 0.00006
NM_153717.3(EVC):c.1564-8C>T rs373957181 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.2240C>T (p.Ala747Val) rs151091776 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.588C>T (p.Asn196=) rs756994584 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1962C>T (p.Asn654=) rs189626383 0.00005
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00005
NM_153717.3(EVC):c.2010C>T (p.Leu670=) rs369722491 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598 0.00004
NM_153717.3(EVC):c.2508G>A (p.Ser836=) rs139441657 0.00004
NM_153717.3(EVC):c.2561+12A>C rs753153126 0.00004
NM_153717.3(EVC):c.2783-18T>G rs544186339 0.00004
NM_153717.3(EVC):c.279G>A (p.Ser93=) rs373072919 0.00004
NM_153717.3(EVC):c.2894+16G>A rs764141260 0.00004
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277 0.00004
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 0.00003
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627 0.00003
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952 0.00003
NM_153717.3(EVC):c.1377G>A (p.Thr459=) rs138725840 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1539C>T (p.Thr513=) rs549251750 0.00003
NM_153717.3(EVC):c.1563+11T>A rs1014470434 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.174+12G>A rs1478727564 0.00003
NM_153717.3(EVC):c.1798C>T (p.Leu600=) rs750023994 0.00003
NM_153717.3(EVC):c.1806C>T (p.Ser602=) rs749141466 0.00003
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871 0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192 0.00003
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.2305-15C>T rs963861102 0.00003
NM_153717.3(EVC):c.2449+15C>G rs367963982 0.00003
NM_153717.3(EVC):c.2457G>A (p.Arg819=) rs1243308266 0.00003
NM_153717.3(EVC):c.2529C>T (p.Gly843=) rs377066936 0.00003
NM_153717.3(EVC):c.2535T>C (p.His845=) rs773156946 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_153717.3(EVC):c.2775G>C (p.Gly925=) rs747433971 0.00003
NM_153717.3(EVC):c.384+19A>G rs200666993 0.00003
NM_153717.3(EVC):c.617+15C>A rs772285022 0.00003
NM_153717.3(EVC):c.73C>T (p.Pro25Ser) rs1395518976 0.00003
NM_153717.3(EVC):c.906G>A (p.Lys302=) rs368231289 0.00003
NM_153717.3(EVC):c.940-14T>C rs374621067 0.00003
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.1098+17C>T rs764011269 0.00002
NM_153717.3(EVC):c.114C>G (p.Leu38=) rs1167442380 0.00002
NM_153717.3(EVC):c.1152T>C (p.Phe384=) rs574038265 0.00002
NM_153717.3(EVC):c.1389G>A (p.Thr463=) rs765596595 0.00002
NM_153717.3(EVC):c.1581C>T (p.Thr527=) rs748792939 0.00002
NM_153717.3(EVC):c.174+11C>G rs1425899204 0.00002
NM_153717.3(EVC):c.1872C>T (p.Gly624=) rs374432399 0.00002
NM_153717.3(EVC):c.1887-19T>G rs1487466098 0.00002
NM_153717.3(EVC):c.2098-4C>G rs771784128 0.00002
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588 0.00002
NM_153717.3(EVC):c.2331G>A (p.Glu777=) rs749197907 0.00002
NM_153717.3(EVC):c.2334C>T (p.Ser778=) rs754983705 0.00002
NM_153717.3(EVC):c.2340C>T (p.Tyr780=) rs747263163 0.00002
NM_153717.3(EVC):c.246A>G (p.Pro82=) rs144606687 0.00002
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00002
NM_153717.3(EVC):c.2814C>G (p.Pro938=) rs199751923 0.00002
NM_153717.3(EVC):c.2894+15C>T rs529282964 0.00002
NM_153717.3(EVC):c.2894+9G>C rs776278582 0.00002
NM_153717.3(EVC):c.411G>A (p.Pro137=) rs758770136 0.00002
NM_153717.3(EVC):c.474C>T (p.Ser158=) rs751812626 0.00002
NM_153717.3(EVC):c.519C>T (p.Ser173=) rs1287616282 0.00002
NM_153717.3(EVC):c.617+11C>T rs768822490 0.00002
NM_153717.3(EVC):c.660C>T (p.Asp220=) rs200294295 0.00002
NM_153717.3(EVC):c.690G>A (p.Gln230=) rs563481672 0.00002
NM_153717.3(EVC):c.702+8G>A rs757444170 0.00002
NM_153717.3(EVC):c.801+16A>G rs774227453 0.00002
NM_153717.3(EVC):c.801+8T>C rs1388494242 0.00002
NM_153717.3(EVC):c.834C>T (p.Val278=) rs575589201 0.00002
NM_153717.3(EVC):c.100C>T (p.Leu34=) rs1577297567 0.00001
NM_153717.3(EVC):c.1089G>T (p.Leu363=) rs773566770 0.00001
NM_153717.3(EVC):c.1098+12G>C rs774029262 0.00001
NM_153717.3(EVC):c.1098+9G>A rs1729682283 0.00001
NM_153717.3(EVC):c.1099-14G>A rs753632197 0.00001
NM_153717.3(EVC):c.1125G>A (p.Arg375=) rs372787652 0.00001
NM_153717.3(EVC):c.1149G>A (p.Glu383=) rs1577439692 0.00001
NM_153717.3(EVC):c.117C>T (p.Gly39=) rs1424931005 0.00001
NM_153717.3(EVC):c.1188G>A (p.Arg396=) rs367659093 0.00001
NM_153717.3(EVC):c.1203C>T (p.Ser401=) rs867155796 0.00001
NM_153717.3(EVC):c.120C>T (p.Leu40=) rs1407286365 0.00001
NM_153717.3(EVC):c.1236G>A (p.Lys412=) rs1730618149 0.00001
NM_153717.3(EVC):c.1315+7C>T rs1252318929 0.00001
NM_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.1316-20G>T rs773461223 0.00001
NM_153717.3(EVC):c.1323C>T (p.Val441=) rs201393812 0.00001
NM_153717.3(EVC):c.1383A>G (p.Lys461=) rs202205463 0.00001
NM_153717.3(EVC):c.1398A>G (p.Gln466=) rs1730773669 0.00001
NM_153717.3(EVC):c.1434G>A (p.Gln478=) rs977322984 0.00001
NM_153717.3(EVC):c.1437G>A (p.Pro479=) rs112861104 0.00001
NM_153717.3(EVC):c.1449G>A (p.Pro483=) rs775819388 0.00001
NM_153717.3(EVC):c.1461C>T (p.Leu487=) rs1414243707 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1465-13G>A rs758154730 0.00001
NM_153717.3(EVC):c.1465-15_1465-14del rs1250363886 0.00001
NM_153717.3(EVC):c.1465-18C>T rs1386528357 0.00001
NM_153717.3(EVC):c.1465-7C>T rs2475511527 0.00001
NM_153717.3(EVC):c.1473T>C (p.His491=) rs768749804 0.00001
NM_153717.3(EVC):c.1479C>G (p.Val493=) rs751325286 0.00001
NM_153717.3(EVC):c.1560C>T (p.Cys520=) rs764798059 0.00001
NM_153717.3(EVC):c.1563+14G>A rs762635502 0.00001
NM_153717.3(EVC):c.1563+8G>C rs896046510 0.00001
NM_153717.3(EVC):c.1564-7G>A rs201739032 0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=) rs766294209 0.00001
NM_153717.3(EVC):c.1626G>A (p.Thr542=) rs1233328481 0.00001
NM_153717.3(EVC):c.1647C>T (p.Leu549=) rs756674302 0.00001
NM_153717.3(EVC):c.1650C>T (p.Pro550=) rs1187336928 0.00001
NM_153717.3(EVC):c.1698C>T (p.Ala566=) rs911132556 0.00001
NM_153717.3(EVC):c.175-20T>C rs1337051221 0.00001
NM_153717.3(EVC):c.1764G>A (p.Glu588=) rs1736003433 0.00001
NM_153717.3(EVC):c.1777-13G>C rs369611343 0.00001
NM_153717.3(EVC):c.1777-15C>G rs1482690795 0.00001
NM_153717.3(EVC):c.1777-8G>A rs760016211 0.00001
NM_153717.3(EVC):c.1794T>C (p.Cys598=) rs1162334289 0.00001
NM_153717.3(EVC):c.1800G>T (p.Leu600=) rs1713204688 0.00001
NM_153717.3(EVC):c.1812G>A (p.Leu604=) rs1342029133 0.00001
NM_153717.3(EVC):c.1836C>T (p.His612=) rs1318231575 0.00001
NM_153717.3(EVC):c.1839G>A (p.Glu613=) rs1419257094 0.00001
NM_153717.3(EVC):c.1845C>A (p.Thr615=) rs1398493743 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1886+10G>A rs1194224970 0.00001
NM_153717.3(EVC):c.1886+13C>T rs748061374 0.00001
NM_153717.3(EVC):c.1886+16T>C rs1172639085 0.00001
NM_153717.3(EVC):c.1893G>A (p.Thr631=) rs1017858503 0.00001
NM_153717.3(EVC):c.1911G>T (p.Gly637=) rs746048526 0.00001
NM_153717.3(EVC):c.1924T>C (p.Leu642=) rs1458268098 0.00001
NM_153717.3(EVC):c.1938C>T (p.Leu646=) rs1714100410 0.00001
NM_153717.3(EVC):c.1989G>C (p.Arg663=) rs1289387183 0.00001
NM_153717.3(EVC):c.2007C>T (p.His669=) rs1309166734 0.00001
NM_153717.3(EVC):c.2013G>A (p.Leu671=) rs1237936378 0.00001
NM_153717.3(EVC):c.2040G>A (p.Leu680=) rs1490178041 0.00001
NM_153717.3(EVC):c.2058G>A (p.Gln686=) rs747533747 0.00001
NM_153717.3(EVC):c.205T>C (p.Leu69=) rs1056083897 0.00001
NM_153717.3(EVC):c.2070G>A (p.Glu690=) rs1288478366 0.00001
NM_153717.3(EVC):c.2088C>T (p.Leu696=) rs761661473 0.00001
NM_153717.3(EVC):c.2097+12A>G rs112766640 0.00001
NM_153717.3(EVC):c.2098-5C>T rs747808287 0.00001
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397 0.00001
NM_153717.3(EVC):c.2112G>A (p.Leu704=) rs1338507408 0.00001
NM_153717.3(EVC):c.213T>C (p.Ser71=) rs1243121626 0.00001
NM_153717.3(EVC):c.2181C>T (p.Ala727=) rs759398050 0.00001
NM_153717.3(EVC):c.2184G>A (p.Glu728=) rs1387569961 0.00001
NM_153717.3(EVC):c.2226C>T (p.Cys742=) rs1174341100 0.00001
NM_153717.3(EVC):c.2250G>A (p.Val750=) rs1577624232 0.00001
NM_153717.3(EVC):c.2304+10G>C rs1384594274 0.00001
NM_153717.3(EVC):c.2304+7A>G rs1714452682 0.00001
NM_153717.3(EVC):c.2305-13T>C rs772230279 0.00001
NM_153717.3(EVC):c.2310A>T (p.Thr770=) rs1236326362 0.00001
NM_153717.3(EVC):c.231G>A (p.Ser77=) rs140615894 0.00001
NM_153717.3(EVC):c.234A>G (p.Glu78=) rs754706204 0.00001
NM_153717.3(EVC):c.2358C>G (p.Val786=) rs895641001 0.00001
NM_153717.3(EVC):c.2365C>T (p.Leu789=) rs1448746006 0.00001
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629 0.00001
NM_153717.3(EVC):c.2406G>A (p.Glu802=) rs747188003 0.00001
NM_153717.3(EVC):c.2430G>A (p.Gln810=) rs370999882 0.00001
NM_153717.3(EVC):c.2449+8A>C rs575130220 0.00001
NM_153717.3(EVC):c.2450-7G>T rs769527486 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2561+11A>C rs1715607757 0.00001
NM_153717.3(EVC):c.2562-5C>G rs747812027 0.00001
NM_153717.3(EVC):c.2562-6C>T rs1480753304 0.00001
NM_153717.3(EVC):c.2601A>C (p.Pro867=) rs1716313861 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2625C>T (p.His875=) rs764729655 0.00001
NM_153717.3(EVC):c.2643A>G (p.Ala881=) rs775736936 0.00001
NM_153717.3(EVC):c.2688+19G>A rs1716343977 0.00001
NM_153717.3(EVC):c.2782+9C>T rs768005359 0.00001
NM_153717.3(EVC):c.2783-8C>T rs905232607 0.00001
NM_153717.3(EVC):c.2790C>T (p.Pro930=) rs747237758 0.00001
NM_153717.3(EVC):c.2894+12C>T rs759319800 0.00001
NM_153717.3(EVC):c.2895-12C>G rs755536415 0.00001
NM_153717.3(EVC):c.2895-20C>T rs760828106 0.00001
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784 0.00001
NM_153717.3(EVC):c.2931G>T (p.Gly977=) rs2474721550 0.00001
NM_153717.3(EVC):c.2946A>G (p.Ser982=) rs1388651029 0.00001
NM_153717.3(EVC):c.2949G>A (p.Lys983=) rs760920720 0.00001
NM_153717.3(EVC):c.2979G>A (p.Ter993=) rs767957964 0.00001
NM_153717.3(EVC):c.300+10G>C rs765963247 0.00001
NM_153717.3(EVC):c.300+19T>C rs550822975 0.00001
NM_153717.3(EVC):c.301-13C>T rs1478477072 0.00001
NM_153717.3(EVC):c.301-5C>T rs1162511331 0.00001
NM_153717.3(EVC):c.303A>G (p.Glu101=) rs1001609281 0.00001
NM_153717.3(EVC):c.30C>T (p.Ser10=) rs1250304907 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.343C>T (p.Leu115=) rs755273705 0.00001
NM_153717.3(EVC):c.375G>A (p.Gln125=) rs951334006 0.00001
NM_153717.3(EVC):c.37C>T (p.Arg13Trp) rs1164098333 0.00001
NM_153717.3(EVC):c.384+9C>T rs1726415422 0.00001
NM_153717.3(EVC):c.385-10G>A rs766423757 0.00001
NM_153717.3(EVC):c.385-13A>G rs549394146 0.00001
NM_153717.3(EVC):c.385-20G>T rs761665926 0.00001
NM_153717.3(EVC):c.385-5C>T rs897738878 0.00001
NM_153717.3(EVC):c.441T>G (p.Val147=) rs1192506036 0.00001
NM_153717.3(EVC):c.447A>G (p.Pro149=) rs143250379 0.00001
NM_153717.3(EVC):c.450C>T (p.His150=) rs760527698 0.00001
NM_153717.3(EVC):c.456G>A (p.Pro152=) rs776773987 0.00001
NM_153717.3(EVC):c.459A>G (p.Val153=) rs1726810074 0.00001
NM_153717.3(EVC):c.507G>A (p.Lys169=) rs560865556 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_153717.3(EVC):c.525A>G (p.Ser175=) rs369785566 0.00001
NM_153717.3(EVC):c.57C>T (p.Asp19=) rs1467149000 0.00001
NM_153717.3(EVC):c.582G>A (p.Arg194=) rs200101865 0.00001
NM_153717.3(EVC):c.60G>C (p.Ala20=) rs1722994905 0.00001
NM_153717.3(EVC):c.617+10G>T rs1175798148 0.00001
NM_153717.3(EVC):c.617+12G>A rs774536837 0.00001
NM_153717.3(EVC):c.617+14G>T rs761982116 0.00001
NM_153717.3(EVC):c.617+18T>G rs761085140 0.00001
NM_153717.3(EVC):c.617+19G>A rs955803429 0.00001
NM_153717.3(EVC):c.617+20G>T rs766787721 0.00001
NM_153717.3(EVC):c.618-15C>T rs1317426834 0.00001
NM_153717.3(EVC):c.618-18T>G rs372274961 0.00001
NM_153717.3(EVC):c.624C>T (p.Asp208=) rs187457187 0.00001
NM_153717.3(EVC):c.633G>T (p.Leu211=) rs778879455 0.00001
NM_153717.3(EVC):c.678G>A (p.Thr226=) rs772621806 0.00001
NM_153717.3(EVC):c.703-17T>C rs769269306 0.00001
NM_153717.3(EVC):c.703-8G>C rs1256118299 0.00001
NM_153717.3(EVC):c.79C>T (p.Leu27=) rs1723000600 0.00001
NM_153717.3(EVC):c.801+16A>T rs774227453 0.00001
NM_153717.3(EVC):c.801+9T>C rs775191328 0.00001
NM_153717.3(EVC):c.802-18T>C rs755662595 0.00001
NM_153717.3(EVC):c.858G>A (p.Ser286=) rs752988350 0.00001
NM_153717.3(EVC):c.876G>A (p.Glu292=) rs902304992 0.00001
NM_153717.3(EVC):c.87C>T (p.Ala29=) rs959894908 0.00001
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448 0.00001
NM_153717.3(EVC):c.885C>T (p.Thr295=) rs1481146042 0.00001
NM_153717.3(EVC):c.888G>T (p.Leu296=) rs998975965 0.00001
NM_153717.3(EVC):c.930A>C (p.Leu310=) rs776792609 0.00001
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572 0.00001
NM_153717.3(EVC):c.939+16T>C rs770139825 0.00001
NM_153717.3(EVC):c.940-9A>C rs1241925243 0.00001
NM_153717.3(EVC):c.99G>A (p.Leu33=) rs1723007488 0.00001
NM_153717.3(EVC):c.1005C>T (p.Ser335=) rs895165309
NM_153717.3(EVC):c.1008C>T (p.Ser336=) rs1729661315
NM_153717.3(EVC):c.1017C>T (p.Ala339=) rs773476300
NM_153717.3(EVC):c.1018C>A (p.Arg340=) rs121908425
NM_153717.3(EVC):c.1020A>G (p.Arg340=) rs2475162874
NM_153717.3(EVC):c.1026G>A (p.Leu342=) rs4688962
NM_153717.3(EVC):c.102G>C (p.Leu34=) rs2474196249
NM_153717.3(EVC):c.1035T>C (p.Thr345=) rs2152045460
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1059C>A (p.Ala353=) rs756025432
NM_153717.3(EVC):c.105C>T (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1089G>A (p.Leu363=) rs773566770
NM_153717.3(EVC):c.1089G>C (p.Leu363=) rs773566770
NM_153717.3(EVC):c.1098+13G>A
NM_153717.3(EVC):c.1098+13G>C rs761463466
NM_153717.3(EVC):c.1098+15G>C
NM_153717.3(EVC):c.1098+16G>A rs1272708855
NM_153717.3(EVC):c.1098+16G>T rs1272708855
NM_153717.3(EVC):c.1098+18G>A
NM_153717.3(EVC):c.1098+18G>T rs755931960
NM_153717.3(EVC):c.1098+20G>C rs766312086
NM_153717.3(EVC):c.1098+20G>T rs766312086
NM_153717.3(EVC):c.1098+8T>C rs2475166640
NM_153717.3(EVC):c.1098+8T>G
NM_153717.3(EVC):c.1099-10C>A rs1465530933
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC rs2152075906
NM_153717.3(EVC):c.1099-21_1099-20delinsGT rs2475377235
NM_153717.3(EVC):c.1099-4G>A rs2152076013
NM_153717.3(EVC):c.1099-5T>C rs2152076005
NM_153717.3(EVC):c.1107G>T (p.Leu369=) rs1188916001
NM_153717.3(EVC):c.1113G>A (p.Arg371=) rs1160976282
NM_153717.3(EVC):c.1116G>A (p.Thr372=) rs781636545
NM_153717.3(EVC):c.1143G>C (p.Val381=) rs2152076257
NM_153717.3(EVC):c.1143G>T (p.Val381=) rs2152076257
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.1159C>T (p.Leu387=) rs1577439719
NM_153717.3(EVC):c.1161G>T (p.Leu387=) rs759392319
NM_153717.3(EVC):c.1176G>A (p.Glu392=) rs752626166
NM_153717.3(EVC):c.1179C>G (p.Thr393=) rs2475382109
NM_153717.3(EVC):c.117C>A (p.Gly39=) rs1424931005
NM_153717.3(EVC):c.1189C>T (p.Leu397=) rs2475382545
NM_153717.3(EVC):c.1197C>T (p.Ala399=) rs2152076403
NM_153717.3(EVC):c.1200C>A (p.Ile400=) rs750816331
NM_153717.3(EVC):c.1203C>A (p.Ser401=)
NM_153717.3(EVC):c.120C>A (p.Leu40=) rs1407286365
NM_153717.3(EVC):c.120C>G (p.Leu40=) rs1407286365
NM_153717.3(EVC):c.1210C>T (p.Leu404=) rs2152076460
NM_153717.3(EVC):c.1215G>A (p.Glu405=) rs2475383601
NM_153717.3(EVC):c.1218G>C (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1218G>T (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1230G>A (p.Glu410=) rs2475383970
NM_153717.3(EVC):c.1239G>C (p.Leu413=) rs1314190626
NM_153717.3(EVC):c.123C>A (p.Gly41=) rs2474197571
NM_153717.3(EVC):c.1246C>A (p.Arg416=) rs113986714
NM_153717.3(EVC):c.1261C>T (p.Leu421=) rs775388162
NM_153717.3(EVC):c.1266C>G (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.1266C>T (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.126C>G (p.Leu42=) rs1239082897
NM_153717.3(EVC):c.126C>T (p.Leu42=) rs1239082897
NM_153717.3(EVC):c.1287C>T (p.Phe429=) rs2152076737
NM_153717.3(EVC):c.1311C>T (p.Ser437=) rs2475387931
NM_153717.3(EVC):c.1312C>A (p.Arg438=) rs754239541
NM_153717.3(EVC):c.1315+11G>C rs2475388582
NM_153717.3(EVC):c.1315+14A>G rs2475388761
NM_153717.3(EVC):c.1315+16_1315+27del rs2475389001
NM_153717.3(EVC):c.1315+8G>T rs550411377
NM_153717.3(EVC):c.1316-14T>C rs1448633172
NM_153717.3(EVC):c.1316-20G>A rs773461223
NM_153717.3(EVC):c.1316-4C>T rs2475420497
NM_153717.3(EVC):c.1327C>A (p.Arg443=) rs1730760070
NM_153717.3(EVC):c.1344C>T (p.Val448=) rs2152081344
NM_153717.3(EVC):c.1347G>A (p.Thr449=) rs968007063
NM_153717.3(EVC):c.1404G>A (p.Glu468=) rs764643954
NM_153717.3(EVC):c.1407A>G (p.Glu469=) rs755691949
NM_153717.3(EVC):c.1425T>C (p.Ala475=) rs2152081868
NM_153717.3(EVC):c.1428G>A (p.Glu476=) rs571637567
NM_153717.3(EVC):c.1437G>T (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1440T>C (p.Thr480=) rs770992412
NM_153717.3(EVC):c.1452A>G (p.Glu484=) rs2475426807
NM_153717.3(EVC):c.1464+12C>A rs753296851
NM_153717.3(EVC):c.1464+12C>G rs753296851
NM_153717.3(EVC):c.1464+19C>T rs1331684144
NM_153717.3(EVC):c.1464+7C>G rs1730788394
NM_153717.3(EVC):c.1464+8A>T rs116236414
NM_153717.3(EVC):c.1465-12T>G rs2475511192
NM_153717.3(EVC):c.1465-15_1465-14dup rs1731153761
NM_153717.3(EVC):c.1465-4A>G rs2475511819
NM_153717.3(EVC):c.1465-5C>A rs1731155996
NM_153717.3(EVC):c.1465-8C>T rs2475511433
NM_153717.3(EVC):c.1465-9T>C rs2475511337
NM_153717.3(EVC):c.1479C>T (p.Val493=) rs751325286
NM_153717.3(EVC):c.147C>A (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1482G>C (p.Leu494=) rs371300088
NM_153717.3(EVC):c.1494G>A (p.Arg498=)
NM_153717.3(EVC):c.150G>C (p.Ala50=) rs1257185745
NM_153717.3(EVC):c.1512G>A (p.Leu504=) rs2475513820
NM_153717.3(EVC):c.1524G>A (p.Glu508=) rs2152094941
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1530C>G (p.Val510=)
NM_153717.3(EVC):c.1531A>C (p.Arg511=) rs2152094988
NM_153717.3(EVC):c.1563+10C>T rs2152095141
NM_153717.3(EVC):c.1563+13T>C rs369872898
NM_153717.3(EVC):c.1563+14G>C
NM_153717.3(EVC):c.1563+15T>G rs2475517370
NM_153717.3(EVC):c.1563+16G>A rs1731175415
NM_153717.3(EVC):c.1563+19G>A
NM_153717.3(EVC):c.1563+7G>A rs2475516783
NM_153717.3(EVC):c.1564-10T>G rs2476464536
NM_153717.3(EVC):c.1564-11C>G
NM_153717.3(EVC):c.1564-11C>T
NM_153717.3(EVC):c.1564-15G>T rs2476464399
NM_153717.3(EVC):c.1564-19C>G rs1298740915
NM_153717.3(EVC):c.1564-7G>C rs201739032
NM_153717.3(EVC):c.1564-7G>T rs201739032
NM_153717.3(EVC):c.1564-9C>T rs1361893356
NM_153717.3(EVC):c.1569G>C (p.Leu523=) rs1272121808
NM_153717.3(EVC):c.1572C>T (p.Tyr524=) rs1735952327
NM_153717.3(EVC):c.1578C>T (p.Ser526=) rs1417960204
NM_153717.3(EVC):c.1593C>T (p.Phe531=) rs771775185
NM_153717.3(EVC):c.159G>A (p.Gln53=)
NM_153717.3(EVC):c.1605G>A (p.Val535=) rs2476466979
NM_153717.3(EVC):c.1611C>T (p.Ala537=) rs765193502
NM_153717.3(EVC):c.1612C>T (p.Leu538=) rs147772724
NM_153717.3(EVC):c.1623G>A (p.Gln541=) rs2152288778
NM_153717.3(EVC):c.1629C>G (p.Leu543=) rs1735963741
NM_153717.3(EVC):c.1635C>T (p.Gly545=) rs781699320
NM_153717.3(EVC):c.1641T>C (p.Thr547=) rs2152288859
NM_153717.3(EVC):c.1647C>A (p.Leu549=) rs756674302
NM_153717.3(EVC):c.1647C>G (p.Leu549=) rs756674302
NM_153717.3(EVC):c.1650C>A (p.Pro550=) rs1187336928
NM_153717.3(EVC):c.1656A>G (p.Glu552=) rs2476469564
NM_153717.3(EVC):c.1662T>C (p.Cys554=) rs2152288989
NM_153717.3(EVC):c.1665C>T (p.Asp555=) rs2476469965
NM_153717.3(EVC):c.1677G>A (p.Gln559=) rs2476470632
NM_153717.3(EVC):c.1683C>A (p.Val561=) rs913909906
NM_153717.3(EVC):c.1683C>G (p.Val561=) rs913909906
NM_153717.3(EVC):c.1689G>A (p.Glu563=) rs1209984570
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1698C>G (p.Ala566=) rs911132556
NM_153717.3(EVC):c.1725C>T (p.Phe575=) rs2476472615
NM_153717.3(EVC):c.1737G>A (p.Gln579=) rs768788576
NM_153717.3(EVC):c.174+14G>A rs1246264046
NM_153717.3(EVC):c.174+16_174+30del rs2474199966
NM_153717.3(EVC):c.174+17G>T
NM_153717.3(EVC):c.174+7C>G rs1577297959
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.174+8G>C rs2474199730
NM_153717.3(EVC):c.1743A>G (p.Lys581=) rs2476473552
NM_153717.3(EVC):c.1746C>A (p.Leu582=) rs1029833383
NM_153717.3(EVC):c.175-19C>G rs369907671
NM_153717.3(EVC):c.175-19C>T rs369907671
NM_153717.3(EVC):c.175-9G>C rs753317536
NM_153717.3(EVC):c.1761A>C (p.Leu587=) rs762075774
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1776+8C>G rs761163369
NM_153717.3(EVC):c.1776+8C>T rs761163369
NM_153717.3(EVC):c.1776+9A>G rs2152289531
NM_153717.3(EVC):c.1777-17C>G rs937783118
NM_153717.3(EVC):c.1777-19C>T rs2474304993
NM_153717.3(EVC):c.1777-9C>G rs113468936
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1779G>A (p.Val593=) rs1260220469
NM_153717.3(EVC):c.1788G>A (p.Glu596=) rs2152326451
NM_153717.3(EVC):c.1791G>A (p.Glu597=) rs1577599969
NM_153717.3(EVC):c.1800G>C (p.Leu600=) rs1713204688
NM_153717.3(EVC):c.1803C>T (p.Ser601=) rs2152326514
NM_153717.3(EVC):c.1809G>A (p.Val603=)
NM_153717.3(EVC):c.1821C>T (p.His607=) rs779056864
NM_153717.3(EVC):c.1825C>A (p.Arg609=) rs748220728
NM_153717.3(EVC):c.1827G>A (p.Arg609=) rs1280496649
NM_153717.3(EVC):c.1830G>A (p.Glu610=) rs1485046285
NM_153717.3(EVC):c.1851C>A (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1851C>T (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1857C>G (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1857C>T (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1886+11C>T rs2474308675
NM_153717.3(EVC):c.1886+17G>C rs2474308850
NM_153717.3(EVC):c.1886+7A>G rs2152326793
NM_153717.3(EVC):c.1887-4A>C rs2152340153
NM_153717.3(EVC):c.1887-5C>T rs2474380878
NM_153717.3(EVC):c.1890C>T (p.Ser630=) rs2152340181
NM_153717.3(EVC):c.1893G>T (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1896G>C (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1905G>T (p.Leu635=) rs777640312
NM_153717.3(EVC):c.1917C>T (p.Asp639=) rs1242667817
NM_153717.3(EVC):c.1923G>A (p.Leu641=) rs1203700311
NM_153717.3(EVC):c.1926G>A (p.Leu642=) rs1191617444
NM_153717.3(EVC):c.1935C>T (p.Ala645=) rs1412137397
NM_153717.3(EVC):c.1939C>A (p.Arg647=) rs770276380
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1941G>A (p.Arg647=) rs2474382420
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.195G>T (p.Leu65=) rs1381076913
NM_153717.3(EVC):c.1965C>A (p.Ala655=) rs757251724
NM_153717.3(EVC):c.1966C>T (p.Leu656=) rs2152340488
NM_153717.3(EVC):c.1968G>A (p.Leu656=) rs2474382916
NM_153717.3(EVC):c.1971C>T (p.Ala657=) rs2152340517
NM_153717.3(EVC):c.1983G>A (p.Gln661=) rs201123831
NM_153717.3(EVC):c.198C>T (p.Leu66=) rs1339960327
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.1998G>A (p.Gly666=) rs772759204
NM_153717.3(EVC):c.2004G>A (p.Lys668=) rs759187395
NM_153717.3(EVC):c.2019G>A (p.Glu673=) rs2474384294
NM_153717.3(EVC):c.2023C>A (p.Arg675=) rs372267517
NM_153717.3(EVC):c.2025G>T (p.Arg675=) rs1714120141
NM_153717.3(EVC):c.2043G>A (p.Glu681=) rs1714123580
NM_153717.3(EVC):c.2055C>T (p.Ser685=) rs1411366434
NM_153717.3(EVC):c.2067C>T (p.Asp689=) rs768403488
NM_153717.3(EVC):c.2076G>A (p.Gln692=) rs1714131544
NM_153717.3(EVC):c.207G>A (p.Leu69=) rs2151841946
NM_153717.3(EVC):c.2085G>C (p.Leu695=) rs2474386317
NM_153717.3(EVC):c.2094C>A (p.Ala698=) rs2474386649
NM_153717.3(EVC):c.2094C>G (p.Ala698=) rs2474386649
NM_153717.3(EVC):c.2094C>T (p.Ala698=) rs2474386649
NM_153717.3(EVC):c.2097+10G>T rs2474387038
NM_153717.3(EVC):c.2098-13C>G rs112455789
NM_153717.3(EVC):c.2098-20C>T rs1020590449
NM_153717.3(EVC):c.2098-5C>G rs747808287
NM_153717.3(EVC):c.2098-7C>G rs1448028337
NM_153717.3(EVC):c.2098-8C>T rs1560427583
NM_153717.3(EVC):c.2110C>T (p.Leu704=) rs1714403171
NM_153717.3(EVC):c.2115G>A (p.Glu705=) rs1714404564
NM_153717.3(EVC):c.2118G>A (p.Glu706=) rs1174656930
NM_153717.3(EVC):c.2127G>A (p.Arg709=) rs2474422956
NM_153717.3(EVC):c.2152C>A (p.Arg718=) rs778287269
NM_153717.3(EVC):c.2154G>A (p.Arg718=) rs1714415040
NM_153717.3(EVC):c.2154G>T (p.Arg718=) rs1714415040
NM_153717.3(EVC):c.2155C>T (p.Leu719=) rs1236823435
NM_153717.3(EVC):c.2157G>A (p.Leu719=) rs1024015517
NM_153717.3(EVC):c.216T>C (p.Asn72=) rs776973612
NM_153717.3(EVC):c.2187C>A (p.Ala729=) rs2474424483
NM_153717.3(EVC):c.2196G>A (p.Val732=) rs1436333199
NM_153717.3(EVC):c.2199G>A (p.Gly733=) rs751965871
NM_153717.3(EVC):c.2199G>C (p.Gly733=) rs751965871
NM_153717.3(EVC):c.219G>T (p.Ala73=) rs759816860
NM_153717.3(EVC):c.2208G>A (p.Leu736=) rs2152345788
NM_153717.3(EVC):c.2217C>T (p.His739=) rs2152345808
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro) rs2474374652
NM_153717.3(EVC):c.222G>A (p.Gln74=) rs775840415
NM_153717.3(EVC):c.2238G>A (p.Gln746=) rs2152345873
NM_153717.3(EVC):c.2247G>A (p.Leu749=) rs2474425700
NM_153717.3(EVC):c.2256A>G (p.Ala752=) rs746682279
NM_153717.3(EVC):c.225C>A (p.Thr75=) rs200161588
NM_153717.3(EVC):c.225C>G (p.Thr75=) rs200161588
NM_153717.3(EVC):c.2262T>C (p.Asn754=) rs1714441484
NM_153717.3(EVC):c.2265A>C (p.Ala755=) rs1714441896
NM_153717.3(EVC):c.2271C>A (p.Thr757=) rs918804667
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2289C>T (p.Asp763=) rs2152346031
NM_153717.3(EVC):c.228C>G (p.Pro76=) rs1223031221
NM_153717.3(EVC):c.2295T>C (p.Asp765=) rs2152346059
NM_153717.3(EVC):c.2304+10G>T rs1384594274
NM_153717.3(EVC):c.2304+15_2304+16del rs2474427637
NM_153717.3(EVC):c.2304+19C>T rs1714456024
NM_153717.3(EVC):c.2304+8C>G rs1714453119
NM_153717.3(EVC):c.2304+9T>A rs2152346132
NM_153717.3(EVC):c.2305-17T>C rs2474504699
NM_153717.3(EVC):c.2305-19C>A rs752147756
NM_153717.3(EVC):c.2305-19C>T rs752147756
NM_153717.3(EVC):c.2305-8_2305-7delinsCT rs2152361700
NM_153717.3(EVC):c.2307G>A (p.Arg769=) rs2474505343
NM_153717.3(EVC):c.2311C>T (p.Leu771=) rs763546632
NM_153717.3(EVC):c.2313G>A (p.Leu771=) rs756905795
NM_153717.3(EVC):c.2319G>A (p.Glu773=) rs2474505713
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2328G>C (p.Val776=) rs913233513
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2346C>T (p.Thr782=) rs2474506277
NM_153717.3(EVC):c.2361C>T (p.Ser787=) rs1412709981
NM_153717.3(EVC):c.2367G>A (p.Leu789=) rs1331718909
NM_153717.3(EVC):c.2370G>A (p.Val790=) rs760435760
NM_153717.3(EVC):c.2376G>C (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2388A>G (p.Gln796=) rs2474507230
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2409C>T (p.Asp803=) rs2474507650
NM_153717.3(EVC):c.2434C>T (p.Leu812=) rs1161329338
NM_153717.3(EVC):c.243C>G (p.Ser81=) rs758262726
NM_153717.3(EVC):c.2442C>T (p.Thr814=) rs1715104844
NM_153717.3(EVC):c.2445G>A (p.Leu815=) rs1463378894
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>G rs758387379
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2449+12C>T
NM_153717.3(EVC):c.2449+13C>G rs367626044
NM_153717.3(EVC):c.2449+13C>T rs367626044
NM_153717.3(EVC):c.2449+14C>A rs374386522
NM_153717.3(EVC):c.2449+14C>G rs374386522
NM_153717.3(EVC):c.2449+14C>T rs374386522
NM_153717.3(EVC):c.2449+15_2449+16insA rs2474509455
NM_153717.3(EVC):c.2449+9C>A rs1577639266
NM_153717.3(EVC):c.2450-16G>A rs2474563839
NM_153717.3(EVC):c.2450-18C>T rs1297590725
NM_153717.3(EVC):c.2450-4C>T rs1273594861
NM_153717.3(EVC):c.2450-7_2450-5dup rs2152375058
NM_153717.3(EVC):c.2450-8T>C rs1715583083
NM_153717.3(EVC):c.2454G>A (p.Glu818=) rs775144960
NM_153717.3(EVC):c.2463A>G (p.Glu821=) rs762865760
NM_153717.3(EVC):c.2484G>A (p.Lys828=) rs2152375180
NM_153717.3(EVC):c.2487A>G (p.Gln829=) rs1439220731
NM_153717.3(EVC):c.2499C>T (p.Asn833=) rs2152375210
NM_153717.3(EVC):c.2514C>T (p.Ser838=) rs2474565895
NM_153717.3(EVC):c.2520G>C (p.Thr840=) rs187406722
NM_153717.3(EVC):c.2523A>C (p.Ala841=) rs2474566207
NM_153717.3(EVC):c.2547G>A (p.Gln849=) rs2152375378
NM_153717.3(EVC):c.2550G>T (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2553C>T (p.Val851=) rs2152375406
NM_153717.3(EVC):c.2556C>T (p.His852=) rs1715604950
NM_153717.3(EVC):c.2561+10C>A rs2152375488
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+13C>A rs2474567530
NM_153717.3(EVC):c.2561+18G>A rs778486384
NM_153717.3(EVC):c.2561+8C>T rs759344946
NM_153717.3(EVC):c.2562-13_2562-12delinsCC rs2152387572
NM_153717.3(EVC):c.2562-18del rs758655422
NM_153717.3(EVC):c.2562-19C>G rs2474652708
NM_153717.3(EVC):c.2562-20G>T rs752068777
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2562-4C>T rs60082311
NM_153717.3(EVC):c.2562-5C>A rs747812027
NM_153717.3(EVC):c.2566C>T (p.Leu856=) rs1323503221
NM_153717.3(EVC):c.2577G>A (p.Gln859=) rs1577663682
NM_153717.3(EVC):c.2580G>A (p.Lys860=) rs1264987350
NM_153717.3(EVC):c.2592C>G (p.Ala864=) rs2152387719
NM_153717.3(EVC):c.2607C>T (p.His869=) rs774624157
NM_153717.3(EVC):c.2610G>A (p.Gln870=) rs2152387774
NM_153717.3(EVC):c.2613G>A (p.Gln871=) rs1383884052
NM_153717.3(EVC):c.2619T>A (p.Arg873=) rs1716320466
NM_153717.3(EVC):c.2620C>T (p.Leu874=) rs2474655204
NM_153717.3(EVC):c.2622G>T (p.Leu874=) rs1399378301
NM_153717.3(EVC):c.2631G>A (p.Gln877=) rs746848299
NM_153717.3(EVC):c.2637G>A (p.Gln879=) rs1716324920
NM_153717.3(EVC):c.2643A>C (p.Ala881=) rs775736936
NM_153717.3(EVC):c.264A>G (p.Arg88=) rs1176423250
NM_153717.3(EVC):c.2664A>G (p.Glu888=) rs1161036004
NM_153717.3(EVC):c.2676G>A (p.Glu892=) rs761201243
NM_153717.3(EVC):c.2685A>G (p.Leu895=) rs2152387981
NM_153717.3(EVC):c.2688+11C>A rs1716343004
NM_153717.3(EVC):c.2688+11C>T rs1716343004
NM_153717.3(EVC):c.2688+8_2688+13del rs2152388021
NM_153717.3(EVC):c.2689-11_2689-8del rs748826552
NM_153717.3(EVC):c.2689-16T>C rs2474683803
NM_153717.3(EVC):c.2689-19C>T rs778945216
NM_153717.3(EVC):c.2689-20C>A rs2474683626
NM_153717.3(EVC):c.2689-8C>G rs563348040
NM_153717.3(EVC):c.2709C>A (p.Ile903=) rs774968451
NM_153717.3(EVC):c.2709C>T (p.Ile903=) rs774968451
NM_153717.3(EVC):c.270G>A (p.Val90=) rs887283188
NM_153717.3(EVC):c.2733A>C (p.Arg911=) rs1478690927
NM_153717.3(EVC):c.2733A>G (p.Arg911=) rs1478690927
NM_153717.3(EVC):c.2739C>A (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2739C>G (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2739C>T (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2763T>C (p.Pro921=) rs2474686072
NM_153717.3(EVC):c.2775G>A (p.Gly925=) rs747433971
NM_153717.3(EVC):c.2782+12A>G rs1716563983
NM_153717.3(EVC):c.2782+13T>A rs2152392158
NM_153717.3(EVC):c.2782+15C>T rs373862588
NM_153717.3(EVC):c.2782+15_2782+18dup rs2474686918
NM_153717.3(EVC):c.2782+19A>T rs1716565508
NM_153717.3(EVC):c.2782+7C>A rs1241416600
NM_153717.3(EVC):c.2782+8A>G rs760124824
NM_153717.3(EVC):c.2783-11G>A rs1237999856
NM_153717.3(EVC):c.2783-11del rs2474704583
NM_153717.3(EVC):c.2783-4A>G rs2474704816
NM_153717.3(EVC):c.2790C>A (p.Pro930=) rs747237758
NM_153717.3(EVC):c.2793A>C (p.Leu931=) rs2474705062
NM_153717.3(EVC):c.2793A>G (p.Leu931=) rs2474705062
NM_153717.3(EVC):c.2796G>A (p.Arg932=) rs376877471
NM_153717.3(EVC):c.2799T>G (p.Thr933=) rs746341526
NM_153717.3(EVC):c.279G>C (p.Ser93=) rs373072919
NM_153717.3(EVC):c.2814C>T (p.Pro938=)
NM_153717.3(EVC):c.2817G>T (p.Leu939=) rs1716697966
NM_153717.3(EVC):c.2820C>G (p.Pro940=) rs1201968469
NM_153717.3(EVC):c.2835C>T (p.Asp945=) rs2152394497
NM_153717.3(EVC):c.2838G>A (p.Leu946=) rs759359327
NM_153717.3(EVC):c.2838G>C (p.Leu946=) rs759359327
NM_153717.3(EVC):c.2844G>T (p.Val948=) rs2474706441
NM_153717.3(EVC):c.2853T>C (p.Asn951=) rs371561252
NM_153717.3(EVC):c.2859C>T (p.Asp953=) rs751735837
NM_153717.3(EVC):c.2862T>A (p.Leu954=) rs2152394578
NM_153717.3(EVC):c.2865C>T (p.Ala955=) rs1333691963
NM_153717.3(EVC):c.2883A>G (p.Ser961=) rs1248488328
NM_153717.3(EVC):c.2886C>G (p.Gly962=)
NM_153717.3(EVC):c.2889A>G (p.Ser963=) rs2152394684
NM_153717.3(EVC):c.288G>A (p.Lys96=) rs1577324357
NM_153717.3(EVC):c.2892C>A (p.Leu964=) rs1428814144
NM_153717.3(EVC):c.2894+11G>T rs1303401578
NM_153717.3(EVC):c.2894+14C>T rs764945712
NM_153717.3(EVC):c.2894+18A>T rs2279250
NM_153717.3(EVC):c.2894+7C>G rs2152394737
NM_153717.3(EVC):c.2894+8T>C rs1447718551
NM_153717.3(EVC):c.2895-12_2895-10del rs2474720423
NM_153717.3(EVC):c.2895-16del rs761097524
NM_153717.3(EVC):c.2895-20C>A rs760828106
NM_153717.3(EVC):c.2895-5T>C
NM_153717.3(EVC):c.2895-8_2895-4del rs1560450397
NM_153717.3(EVC):c.2898C>T (p.Ser966=) rs1716824868
NM_153717.3(EVC):c.2916A>G (p.Gln972=) rs1285231247
NM_153717.3(EVC):c.2922T>C (p.Ser974=) rs2152396440
NM_153717.3(EVC):c.2925A>G (p.Glu975=) rs1399872123
NM_153717.3(EVC):c.2928T>A (p.Ala976=) rs769376828
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2934C>T (p.Asp978=) rs1241792860
NM_153717.3(EVC):c.2973C>T (p.Asn991=) rs2474722596
NM_153717.3(EVC):c.2976G>A (p.Leu992=) rs1577673719
NM_153717.3(EVC):c.297T>G (p.Val99=) rs1219519950
NM_153717.3(EVC):c.300+14T>G rs2474377245
NM_153717.3(EVC):c.300+17T>G rs1202771353
NM_153717.3(EVC):c.300+20T>C rs772905708
NM_153717.3(EVC):c.300+24_300+27del rs1238843861
NM_153717.3(EVC):c.300+7T>A rs760229545
NM_153717.3(EVC):c.301-10dup rs2474608537
NM_153717.3(EVC):c.301-13C>G rs1478477072
NM_153717.3(EVC):c.301-7C>T rs764925850
NM_153717.3(EVC):c.301-9C>G rs1726395310
NM_153717.3(EVC):c.312G>T (p.Pro104=) rs763930196
NM_153717.3(EVC):c.31G>A (p.Asp11Asn) rs1041162288
NM_153717.3(EVC):c.333A>G (p.Thr111=) rs2474609970
NM_153717.3(EVC):c.333A>T (p.Thr111=) rs2474609970
NM_153717.3(EVC):c.354A>G (p.Lys118=) rs2151919308
NM_153717.3(EVC):c.360C>A (p.Ile120=) rs2151919327
NM_153717.3(EVC):c.384+10C>G
NM_153717.3(EVC):c.384+10C>T
NM_153717.3(EVC):c.384+10_384+12dup rs2151919610
NM_153717.3(EVC):c.384+10del rs2474611980
NM_153717.3(EVC):c.384+12G>C rs1192867917
NM_153717.3(EVC):c.384+15C>G rs769229885
NM_153717.3(EVC):c.385-20G>A rs761665926
NM_153717.3(EVC):c.385-6C>T rs1167563102
NM_153717.3(EVC):c.385-7A>T rs753908435
NM_153717.3(EVC):c.390G>T (p.Leu130=) rs2151934901
NM_153717.3(EVC):c.393C>G (p.Ala131=) rs374197757
NM_153717.3(EVC):c.393C>T (p.Ala131=) rs374197757
NM_153717.3(EVC):c.399C>T (p.Gly133=) rs2474667156
NM_153717.3(EVC):c.39G>A (p.Arg13=) rs1479357518
NM_153717.3(EVC):c.402C>T (p.Ser134=) rs1560295523
NM_153717.3(EVC):c.405C>T (p.Ser135=) rs2151934982
NM_153717.3(EVC):c.411G>T (p.Pro137=) rs758770136
NM_153717.3(EVC):c.414T>C (p.Ser138=) rs2474667727
NM_153717.3(EVC):c.417G>T (p.Leu139=) rs2474667799
NM_153717.3(EVC):c.42G>A (p.Leu14=) rs1213156946
NM_153717.3(EVC):c.435G>A (p.Gln145=) rs985748259
NM_153717.3(EVC):c.438T>C (p.Ala146=) rs200690823
NM_153717.3(EVC):c.438T>G (p.Ala146=) rs200690823
NM_153717.3(EVC):c.456G>C (p.Pro152=) rs776773987
NM_153717.3(EVC):c.456G>T (p.Pro152=) rs776773987
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
NM_153717.3(EVC):c.465C>G (p.Ala155=) rs146706283
NM_153717.3(EVC):c.477C>T (p.Ser159=) rs2151935441
NM_153717.3(EVC):c.480T>C (p.Ser160=) rs2151935461
NM_153717.3(EVC):c.489C>T (p.Ser163=) rs1490742182
NM_153717.3(EVC):c.48G>A (p.Leu16=) rs1722991126
NM_153717.3(EVC):c.492G>A (p.Leu164=) rs1204453757
NM_153717.3(EVC):c.528C>G (p.Ser176=) rs532386294
NM_153717.3(EVC):c.528C>T (p.Ser176=) rs532386294
NM_153717.3(EVC):c.531C>T (p.Ser177=) rs542910336
NM_153717.3(EVC):c.537C>T (p.His179=) rs2474671783
NM_153717.3(EVC):c.540G>T (p.Ser180=) rs200120462
NM_153717.3(EVC):c.54G>C (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.54G>T (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.564C>G (p.Leu188=) rs2474672446
NM_153717.3(EVC):c.573C>G (p.Thr191=) rs2474672667
NM_153717.3(EVC):c.579C>T (p.Leu193=) rs2474672708
NM_153717.3(EVC):c.589G>A (p.Ala197Thr) rs115507440
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.591C>G (p.Ala197=)
NM_153717.3(EVC):c.594C>T (p.Phe198=) rs1224007808
NM_153717.3(EVC):c.597T>C (p.Pro199=) rs2474673302
NM_153717.3(EVC):c.603G>A (p.Val201=) rs2151936107
NM_153717.3(EVC):c.604C>T (p.Leu202=) rs2474673408
NM_153717.3(EVC):c.609C>T (p.Ala203=) rs2151936137
NM_153717.3(EVC):c.617+15C>T rs772285022
NM_153717.3(EVC):c.617+18T>C rs761085140
NM_153717.3(EVC):c.618-13T>A rs1727147076
NM_153717.3(EVC):c.618-14A>C rs767274362
NM_153717.3(EVC):c.618-19T>C rs1577367937
NM_153717.3(EVC):c.618-9A>T rs2151945814
NM_153717.3(EVC):c.630C>T (p.Asp210=) rs1339867475
NM_153717.3(EVC):c.636T>C (p.Cys212=) rs2151945944
NM_153717.3(EVC):c.642C>T (p.Tyr214=) rs2151945971
NM_153717.3(EVC):c.64C>A (p.Arg22=) rs1267604048
NM_153717.3(EVC):c.651C>T (p.His217=) rs746235321
NM_153717.3(EVC):c.666G>A (p.Leu222=) rs1560299816
NM_153717.3(EVC):c.66G>A (p.Arg22=) rs2474194251
NM_153717.3(EVC):c.66G>C (p.Arg22=) rs2474194251
NM_153717.3(EVC):c.678G>C (p.Thr226=) rs772621806
NM_153717.3(EVC):c.681A>G (p.Ala227=) rs2474717715
NM_153717.3(EVC):c.69G>A (p.Pro23=) rs1722996127
NM_153717.3(EVC):c.702+10G>T
NM_153717.3(EVC):c.702+12T>C rs1674487434
NM_153717.3(EVC):c.702+13G>A rs2474718672
NM_153717.3(EVC):c.702+15T>C rs2474718711
NM_153717.3(EVC):c.702+17G>A rs559719173
NM_153717.3(EVC):c.702+18C>T rs770326524
NM_153717.3(EVC):c.702+9A>T rs1415648336
NM_153717.3(EVC):c.703-10T>G rs1231822006
NM_153717.3(EVC):c.703-13T>A rs2474943956
NM_153717.3(EVC):c.703-15C>T rs2474943831
NM_153717.3(EVC):c.703-19T>G rs2474943694
NM_153717.3(EVC):c.703-20C>T rs749681885
NM_153717.3(EVC):c.703-5_703-4dup rs2152000379
NM_153717.3(EVC):c.703-7G>A rs2152000339
NM_153717.3(EVC):c.729C>T (p.Cys243=) rs2474945437
NM_153717.3(EVC):c.72G>C (p.Ala24=) rs1004037341
NM_153717.3(EVC):c.72G>T (p.Ala24=) rs1004037341
NM_153717.3(EVC):c.732C>T (p.Leu244=) rs1035355173
NM_153717.3(EVC):c.747T>A (p.Pro249=) rs2474946171
NM_153717.3(EVC):c.75C>A (p.Pro25=)
NM_153717.3(EVC):c.75C>G (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.75C>T (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.765T>C (p.Asp255=) rs2152000814
NM_153717.3(EVC):c.768A>G (p.Glu256=) rs2152000830
NM_153717.3(EVC):c.786T>C (p.Leu262=) rs2474947705
NM_153717.3(EVC):c.792A>G (p.Lys264=) rs2152001052
NM_153717.3(EVC):c.801+12A>G rs1033081169
NM_153717.3(EVC):c.801+13C>T rs545838582
NM_153717.3(EVC):c.801+14C>A rs768389564
NM_153717.3(EVC):c.801+16_801+17del rs1560315958
NM_153717.3(EVC):c.802-12_802-8del rs753304898
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.802-19T>C rs1385779780
NM_153717.3(EVC):c.802-6C>T rs773954366
NM_153717.3(EVC):c.802-9C>A rs1309092985
NM_153717.3(EVC):c.802-9C>T rs1309092985
NM_153717.3(EVC):c.807G>A (p.Leu269=) rs1729179179
NM_153717.3(EVC):c.813A>G (p.Glu271=) rs1482492780
NM_153717.3(EVC):c.81G>T (p.Leu27=) rs2151767494
NM_153717.3(EVC):c.822G>A (p.Lys274=) rs2475057468
NM_153717.3(EVC):c.82C>T (p.Leu28=) rs1723001259
NM_153717.3(EVC):c.831G>A (p.Gln277=) rs2152027341
NM_153717.3(EVC):c.843A>G (p.Ser281=) rs2152027396
NM_153717.3(EVC):c.846C>T (p.Asn282=) rs2475058544
NM_153717.3(EVC):c.84G>A (p.Leu28=) rs1183655638
NM_153717.3(EVC):c.858G>T (p.Ser286=) rs752988350
NM_153717.3(EVC):c.861G>A (p.Gly287=) rs1409202718
NM_153717.3(EVC):c.870C>T (p.Asp290=) rs1300883042
NM_153717.3(EVC):c.873T>A (p.Ser291=) rs1577407384
NM_153717.3(EVC):c.879C>T (p.Tyr293=) rs2475060903
NM_153717.3(EVC):c.87C>G (p.Ala29=) rs959894908
NM_153717.3(EVC):c.891T>A (p.Ala297=) rs2475061598
NM_153717.3(EVC):c.891T>C (p.Ala297=)
NM_153717.3(EVC):c.903G>A (p.Lys301=) rs2152027698
NM_153717.3(EVC):c.90C>T (p.Pro30=) rs2474195503
NM_153717.3(EVC):c.928C>T (p.Leu310=) rs145300726
NM_153717.3(EVC):c.930A>G (p.Leu310=) rs776792609
NM_153717.3(EVC):c.936T>C (p.Asp312=) rs1294633111
NM_153717.3(EVC):c.939+10_939+11delinsGT rs2152027986
NM_153717.3(EVC):c.939+11G>A rs55955937
NM_153717.3(EVC):c.939+12A>C
NM_153717.3(EVC):c.939+13C>A rs2475064532
NM_153717.3(EVC):c.939+16T>A rs770139825
NM_153717.3(EVC):c.939+17C>T rs2475064848
NM_153717.3(EVC):c.939+20T>A rs1729211125
NM_153717.3(EVC):c.939+9_939+10inv
NM_153717.3(EVC):c.93C>T (p.Ala31=) rs866226288
NM_153717.3(EVC):c.940-15G>A rs201738879
NM_153717.3(EVC):c.940-15G>T rs201738879
NM_153717.3(EVC):c.940-6T>C rs2152044901
NM_153717.3(EVC):c.940-9A>G rs1241925243
NM_153717.3(EVC):c.945A>G (p.Glu315=) rs1057523442
NM_153717.3(EVC):c.957A>G (p.Lys319=) rs2152045024
NM_153717.3(EVC):c.96G>A (p.Val32=) rs2151767783
NM_153717.3(EVC):c.987G>A (p.Val329=) rs2475161334
NM_153717.3(EVC):c.990C>T (p.Asp330=) rs2152045173
NM_153717.3(EVC):c.999G>A (p.Lys333=) rs1729659333

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