ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1836
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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_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
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.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
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 0.00120
NM_147127.5(EVC2):c.707-18G>A rs144093697 0.00097
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724 0.00085
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_147127.5(EVC2):c.1005+3G>A rs141371552 0.00082
NM_153717.3(EVC):c.802-15_802-12del rs386671011 0.00069
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) rs150444745 0.00064
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_147127.5(EVC2):c.1886+7C>G rs376738238 0.00049
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_147127.5(EVC2):c.229-4T>G rs375534154 0.00043
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_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279 0.00038
NM_147127.5(EVC2):c.3272+17G>A rs367667945 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_147127.5(EVC2):c.1470+20A>G rs375025494 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_147127.5(EVC2):c.48G>T (p.Gly16=) rs537265864 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_147127.5(EVC2):c.1886+11A>G rs61218140 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_147127.5(EVC2):c.2898G>A (p.Ser966=) rs150055324 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_147127.5(EVC2):c.894C>T (p.His298=) rs143027693 0.00021
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423 0.00019
NM_153717.3(EVC):c.617+17A>G rs113726930 0.00019
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_147127.5(EVC2):c.984A>T (p.Gly328=) rs1023236102 0.00016
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00016
NM_153717.3(EVC):c.702+16C>T rs180960931 0.00016
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=) rs374038474 0.00014
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 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_147127.5(EVC2):c.284-17G>A rs201654752 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_147127.5(EVC2):c.450+17A>G rs370958428 0.00012
NM_153717.3(EVC):c.2583G>A (p.Arg861=) rs145317746 0.00012
NM_147127.5(EVC2):c.3858C>T (p.His1286=) rs368103321 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.540G>A (p.Ser180=) rs200120462 0.00011
NM_153717.3(EVC):c.690G>A (p.Gln230=) rs563481672 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_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_147127.5(EVC2):c.129C>T (p.Gly43=) rs985034372 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_147127.5(EVC2):c.2793C>T (p.Leu931=) rs764663533 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_147127.5(EVC2):c.3558-6C>T rs527866261 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.817-17C>A rs371482683 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_147127.5(EVC2):c.1041G>A (p.Pro347=) rs778170817 0.00008
NM_147127.5(EVC2):c.2250G>A (p.Glu750=) rs552887116 0.00008
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879 0.00008
NM_147127.5(EVC2):c.3558-8G>A rs775806827 0.00008
NM_147127.5(EVC2):c.520-6C>T rs747479747 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_147127.5(EVC2):c.2202C>T (p.Asp734=) rs199788223 0.00007
NM_147127.5(EVC2):c.2613C>T (p.Ile871=) rs759358405 0.00007
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=) rs749901674 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260 0.00006
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676 0.00006
NM_147127.5(EVC2):c.192G>C (p.Pro64=) rs777094897 0.00006
NM_147127.5(EVC2):c.2079C>T (p.Val693=) rs201171209 0.00006
NM_147127.5(EVC2):c.2604C>T (p.Leu868=) rs138672121 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=) rs138166440 0.00006
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
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.1980G>A (p.Thr660=) rs537471996 0.00006
NM_153717.3(EVC):c.2349C>T (p.Ser783=) rs138114051 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.534C>A (p.Val178=) rs774703104 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_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014 0.00005
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477 0.00005
NM_147127.5(EVC2):c.2157C>T (p.Ala719=) rs777141609 0.00005
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=) rs777897646 0.00005
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1152T>C (p.Phe384=) rs574038265 0.00005
NM_153717.3(EVC):c.1962C>T (p.Asn654=) rs189626383 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.312G>A (p.Pro104=) rs763930196 0.00005
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1530G>A (p.Leu510=) rs750953517 0.00004
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448 0.00004
NM_147127.5(EVC2):c.2397C>T (p.Asp799=) rs372782913 0.00004
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=) rs182310332 0.00004
NM_147127.5(EVC2):c.3058-4G>A rs1490949079 0.00004
NM_147127.5(EVC2):c.30C>T (p.Pro10=) rs1193570001 0.00004
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=) rs770163191 0.00004
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=) rs756880962 0.00004
NM_147127.5(EVC2):c.3192G>A (p.Val1064=) rs755786659 0.00004
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=) rs776832054 0.00004
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827 0.00004
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=) rs772566880 0.00004
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234 0.00004
NM_147127.5(EVC2):c.732C>T (p.Tyr244=) rs765159349 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 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.279G>A (p.Ser93=) rs373072919 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.906G>A (p.Lys302=) rs368231289 0.00004
NM_147127.5(EVC2):c.1887-6A>G rs772186122 0.00003
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539 0.00003
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998 0.00003
NM_147127.5(EVC2):c.2501+20G>A rs371570790 0.00003
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793 0.00003
NM_147127.5(EVC2):c.2994G>A (p.Glu998=) rs769447158 0.00003
NM_147127.5(EVC2):c.3272+16C>T rs200378678 0.00003
NM_147127.5(EVC2):c.3660-10A>G rs371900491 0.00003
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538 0.00003
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.888C>T (p.Gly296=) rs370515818 0.00003
NM_147127.5(EVC2):c.93C>T (p.Leu31=) rs1217842109 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 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.1563+11T>A rs1014470434 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1798C>T (p.Leu600=) rs750023994 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.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.231G>A (p.Ser77=) rs140615894 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_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073 0.00002
NM_147127.5(EVC2):c.1503C>G (p.Thr501=) rs369530549 0.00002
NM_147127.5(EVC2):c.1608A>G (p.Glu536=) rs201898124 0.00002
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612 0.00002
NM_147127.5(EVC2):c.2046+20A>C rs777490147 0.00002
NM_147127.5(EVC2):c.2073G>A (p.Ala691=) rs765197478 0.00002
NM_147127.5(EVC2):c.2337G>A (p.Glu779=) rs985968905 0.00002
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.2439C>T (p.Asp813=) rs370538823 0.00002
NM_147127.5(EVC2):c.2502-19T>C rs564320592 0.00002
NM_147127.5(EVC2):c.2637A>G (p.Gln879=) rs749805702 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2949G>A (p.Ser983=) rs755297128 0.00002
NM_147127.5(EVC2):c.3057+13G>A rs770915834 0.00002
NM_147127.5(EVC2):c.3058-5T>C rs765936867 0.00002
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=) rs778954685 0.00002
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=) rs779715707 0.00002
NM_147127.5(EVC2):c.3360+9G>A rs747744305 0.00002
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248 0.00002
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=) rs966509995 0.00002
NM_147127.5(EVC2):c.522G>A (p.Val174=) rs140251602 0.00002
NM_147127.5(EVC2):c.753A>G (p.Gly251=) rs369737795 0.00002
NM_147127.5(EVC2):c.792A>G (p.Gln264=) rs1014985062 0.00002
NM_147127.5(EVC2):c.924C>T (p.Leu308=) rs140800339 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.114C>G (p.Leu38=) rs1167442380 0.00002
NM_153717.3(EVC):c.1389G>A (p.Thr463=) rs765596595 0.00002
NM_153717.3(EVC):c.1539C>T (p.Thr513=) rs549251750 0.00002
NM_153717.3(EVC):c.1581C>T (p.Thr527=) rs748792939 0.00002
NM_153717.3(EVC):c.1872C>T (p.Gly624=) rs374432399 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.2449+8A>C rs575130220 0.00002
NM_153717.3(EVC):c.246A>G (p.Pro82=) rs144606687 0.00002
NM_153717.3(EVC):c.2894+9G>C rs776278582 0.00002
NM_153717.3(EVC):c.384+19A>G rs200666993 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.660C>T (p.Asp220=) rs200294295 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_147127.5(EVC2):c.1006-7C>T rs760800233 0.00001
NM_147127.5(EVC2):c.1035C>G (p.Pro345=) rs1719022666 0.00001
NM_147127.5(EVC2):c.1056T>C (p.Asp352=) rs900466909 0.00001
NM_147127.5(EVC2):c.1062G>A (p.Val354=) rs756157217 0.00001
NM_147127.5(EVC2):c.1107T>C (p.Ser369=) rs776250707 0.00001
NM_147127.5(EVC2):c.1134A>G (p.Gln378=) rs756310412 0.00001
NM_147127.5(EVC2):c.1146-9G>T rs774847750 0.00001
NM_147127.5(EVC2):c.1245C>G (p.Thr415=) rs747208576 0.00001
NM_147127.5(EVC2):c.1380G>C (p.Leu460=) rs1438407396 0.00001
NM_147127.5(EVC2):c.1392G>A (p.Lys464=) rs1362654881 0.00001
NM_147127.5(EVC2):c.1440A>G (p.Ala480=) rs779955202 0.00001
NM_147127.5(EVC2):c.1455A>G (p.Lys485=) rs1371814417 0.00001
NM_147127.5(EVC2):c.1476T>C (p.Ala492=) rs141479252 0.00001
NM_147127.5(EVC2):c.1485C>T (p.Cys495=) rs911180448 0.00001
NM_147127.5(EVC2):c.1542C>T (p.Leu514=) rs376252506 0.00001
NM_147127.5(EVC2):c.1545T>A (p.Ala515=) rs1716570565 0.00001
NM_147127.5(EVC2):c.1584G>A (p.Gln528=) rs1273439269 0.00001
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789 0.00001
NM_147127.5(EVC2):c.1650C>T (p.Phe550=) rs765432520 0.00001
NM_147127.5(EVC2):c.1710+10C>T rs779023251 0.00001
NM_147127.5(EVC2):c.171G>T (p.Gly57=) rs1722350740 0.00001
NM_147127.5(EVC2):c.174C>G (p.Pro58=) rs1317163956 0.00001
NM_147127.5(EVC2):c.180G>C (p.Leu60=) rs746557117 0.00001
NM_147127.5(EVC2):c.1827G>A (p.Val609=) rs758243772 0.00001
NM_147127.5(EVC2):c.1881C>T (p.His627=) rs1181526421 0.00001
NM_147127.5(EVC2):c.1897C>T (p.Leu633=) rs755775994 0.00001
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407 0.00001
NM_147127.5(EVC2):c.1908C>T (p.Asp636=) rs753259274 0.00001
NM_147127.5(EVC2):c.1923A>G (p.Leu641=) rs1193715900 0.00001
NM_147127.5(EVC2):c.1947C>G (p.Val649=) rs748436461 0.00001
NM_147127.5(EVC2):c.195G>A (p.Gly65=) rs1351285832 0.00001
NM_147127.5(EVC2):c.1974T>C (p.Asn658=) rs146401544 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.2026A>C (p.Arg676=) rs922218808 0.00001
NM_147127.5(EVC2):c.2043A>G (p.Gln681=) rs774467445 0.00001
NM_147127.5(EVC2):c.2088C>G (p.Ala696=) rs1460893645 0.00001
NM_147127.5(EVC2):c.2109C>T (p.Ala703=) rs1290218024 0.00001
NM_147127.5(EVC2):c.2169G>A (p.Glu723=) rs1300347009 0.00001
NM_147127.5(EVC2):c.216G>A (p.Glu72=) rs1478999602 0.00001
NM_147127.5(EVC2):c.2172G>T (p.Leu724=) rs546009991 0.00001
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952 0.00001
NM_147127.5(EVC2):c.219C>T (p.Ser73=) rs1423567913 0.00001
NM_147127.5(EVC2):c.2226G>A (p.Ser742=) rs1225003407 0.00001
NM_147127.5(EVC2):c.2265G>A (p.Gln755=) rs962222538 0.00001
NM_147127.5(EVC2):c.2274C>T (p.Ala758=) rs1195932614 0.00001
NM_147127.5(EVC2):c.228+10G>T rs1478451043 0.00001
NM_147127.5(EVC2):c.229-7T>G rs763121941 0.00001
NM_147127.5(EVC2):c.2292C>G (p.Leu764=) rs200598574 0.00001
NM_147127.5(EVC2):c.2364C>T (p.Ala788=) rs575617564 0.00001
NM_147127.5(EVC2):c.2376G>A (p.Glu792=) rs752095410 0.00001
NM_147127.5(EVC2):c.2379G>A (p.Gly793=) rs984357172 0.00001
NM_147127.5(EVC2):c.2391C>T (p.Asp797=) rs920334676 0.00001
NM_147127.5(EVC2):c.2607C>G (p.Pro869=) rs752513992 0.00001
NM_147127.5(EVC2):c.2649G>A (p.Ala883=) rs751714104 0.00001
NM_147127.5(EVC2):c.2685C>T (p.Ala895=) rs771623926 0.00001
NM_147127.5(EVC2):c.2832T>C (p.Val944=) rs1380334833 0.00001
NM_147127.5(EVC2):c.284-10T>C rs1192584069 0.00001
NM_147127.5(EVC2):c.2925G>A (p.Ala975=) rs760612784 0.00001
NM_147127.5(EVC2):c.2937C>T (p.Thr979=) rs750126669 0.00001
NM_147127.5(EVC2):c.2995C>T (p.Leu999=) rs745415485 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=) rs751382770 0.00001
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=) rs775309745 0.00001
NM_147127.5(EVC2):c.3057+13G>T rs770915834 0.00001
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=) rs1284265777 0.00001
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=) rs987312090 0.00001
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=) rs777020546 0.00001
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=) rs777724107 0.00001
NM_147127.5(EVC2):c.3219C>T (p.Val1073=) rs776929675 0.00001
NM_147127.5(EVC2):c.3264T>C (p.His1088=) rs756868538 0.00001
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=) rs754317285 0.00001
NM_147127.5(EVC2):c.3273-7A>T rs1382818953 0.00001
NM_147127.5(EVC2):c.3273-8C>T rs756556239 0.00001
NM_147127.5(EVC2):c.327C>G (p.Val109=) rs1721335332 0.00001
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=) rs746688755 0.00001
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=) rs1451776773 0.00001
NM_147127.5(EVC2):c.3361-4G>T rs1378260553 0.00001
NM_147127.5(EVC2):c.3361-5T>C rs374025466 0.00001
NM_147127.5(EVC2):c.3361-7C>G rs772860972 0.00001
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=) rs1461295651 0.00001
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=) rs778492108 0.00001
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=) rs757807439 0.00001
NM_147127.5(EVC2):c.33G>A (p.Thr11=) rs1202476781 0.00001
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=) rs768312867 0.00001
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=) rs1321179195 0.00001
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=) rs1291370512 0.00001
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=) rs770872108 0.00001
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3557+7G>C rs748684933 0.00001
NM_147127.5(EVC2):c.3557+9C>T rs928653922 0.00001
NM_147127.5(EVC2):c.3609G>C (p.Leu1203=) rs754595798 0.00001
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=) rs374425966 0.00001
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=) rs962774281 0.00001
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=) rs770129558 0.00001
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=) rs767740349 0.00001
NM_147127.5(EVC2):c.372T>C (p.Ala124=) rs753895375 0.00001
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=) rs775355661 0.00001
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=) rs1032044767 0.00001
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379 0.00001
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=) rs371771308 0.00001
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=) rs953355815 0.00001
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=) rs1277969148 0.00001
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760 0.00001
NM_147127.5(EVC2):c.40C>T (p.Leu14=) rs1722366826 0.00001
NM_147127.5(EVC2):c.411G>A (p.Lys137=) rs762375976 0.00001
NM_147127.5(EVC2):c.429G>A (p.Glu143=) rs754435299 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_147127.5(EVC2):c.45C>T (p.Ala15=) rs1285560156 0.00001
NM_147127.5(EVC2):c.498A>G (p.Val166=) rs369509893 0.00001
NM_147127.5(EVC2):c.520-7G>T rs1177228956 0.00001
NM_147127.5(EVC2):c.534T>C (p.Ser178=) rs1720948331 0.00001
NM_147127.5(EVC2):c.591A>G (p.Ser197=) rs1720942772 0.00001
NM_147127.5(EVC2):c.612C>T (p.Leu204=) rs1317049169 0.00001
NM_147127.5(EVC2):c.630T>A (p.Ala210=) rs1386228779 0.00001
NM_147127.5(EVC2):c.636C>T (p.Leu212=) rs768639624 0.00001
NM_147127.5(EVC2):c.639C>T (p.Thr213=) rs1323570343 0.00001
NM_147127.5(EVC2):c.681G>A (p.Gln227=) rs997848448 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.707-5C>T rs781300676 0.00001
NM_147127.5(EVC2):c.707-8C>G rs746187089 0.00001
NM_147127.5(EVC2):c.741G>A (p.Thr247=) rs772821703 0.00001
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303 0.00001
NM_147127.5(EVC2):c.78G>A (p.Gly26=) rs1472845952 0.00001
NM_147127.5(EVC2):c.798C>G (p.Thr266=) rs1217997624 0.00001
NM_147127.5(EVC2):c.855A>G (p.Ala285=) rs1277622681 0.00001
NM_147127.5(EVC2):c.870+9C>T rs749270873 0.00001
NM_147127.5(EVC2):c.871-5C>T rs745871266 0.00001
NM_147127.5(EVC2):c.900A>G (p.Ala300=) rs1049760300 0.00001
NM_147127.5(EVC2):c.918C>T (p.Phe306=) rs1382381005 0.00001
NM_147127.5(EVC2):c.921C>T (p.Leu307=) rs1243167455 0.00001
NM_147127.5(EVC2):c.9C>T (p.Pro3=) rs573858756 0.00001
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+9G>A rs1729682283 0.00001
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 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.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.1323C>T (p.Val441=) rs201393812 0.00001
NM_153717.3(EVC):c.1461C>T (p.Leu487=) rs1414243707 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+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.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.1764G>A (p.Glu588=) rs1736003433 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.1806C>T (p.Ser602=) rs749141466 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.1911G>T (p.Gly637=) rs746048526 0.00001
NM_153717.3(EVC):c.1924T>C (p.Leu642=) rs1458268098 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.2040G>A (p.Leu680=) rs1490178041 0.00001
NM_153717.3(EVC):c.2058G>A (p.Gln686=) rs747533747 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.2098-5C>T rs747808287 0.00001
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397 0.00001
NM_153717.3(EVC):c.216T>C (p.Asn72=) rs776973612 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+7A>G rs1714452682 0.00001
NM_153717.3(EVC):c.2313G>A (p.Leu771=) rs756905795 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.2450-7G>T rs769527486 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2562-5C>G rs747812027 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.2782+13dup rs770549797 0.00001
NM_153717.3(EVC):c.2782+9C>T rs768005359 0.00001
NM_153717.3(EVC):c.2783-18T>G rs544186339 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.2949G>A (p.Lys983=) rs760920720 0.00001
NM_153717.3(EVC):c.300+10G>C rs765963247 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.384+9C>T rs1726415422 0.00001
NM_153717.3(EVC):c.385-10G>A rs766423757 0.00001
NM_153717.3(EVC):c.385-5C>T rs897738878 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.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.617+10G>T rs1175798148 0.00001
NM_153717.3(EVC):c.624C>T (p.Asp208=) rs187457187 0.00001
NM_153717.3(EVC):c.79C>T (p.Leu27=) rs1723000600 0.00001
NM_153717.3(EVC):c.801+9T>C rs775191328 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.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.940-9A>C rs1241925243 0.00001
NM_153717.3(EVC):c.99G>A (p.Leu33=) rs1723007488 0.00001
NM_147127.5(EVC2):c.1005+11C>G
NM_147127.5(EVC2):c.1005+14G>A
NM_147127.5(EVC2):c.1005+15A>C
NM_147127.5(EVC2):c.1005+17G>A
NM_147127.5(EVC2):c.1005+7C>G rs1453329419
NM_147127.5(EVC2):c.1006-13A>C
NM_147127.5(EVC2):c.1006-15G>A
NM_147127.5(EVC2):c.1006-15G>T rs371325268
NM_147127.5(EVC2):c.1006-16C>T
NM_147127.5(EVC2):c.1006-17C>A
NM_147127.5(EVC2):c.1006-17C>G
NM_147127.5(EVC2):c.1006-5T>C
NM_147127.5(EVC2):c.1006-5dup
NM_147127.5(EVC2):c.1006-6C>A
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
NM_147127.5(EVC2):c.1047C>T (p.Thr349=) rs2108896061
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
NM_147127.5(EVC2):c.1059C>A (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.1086C>T (p.Asp362=) rs1719017773
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
NM_147127.5(EVC2):c.1110C>T (p.Ser370=) rs748718225
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
NM_147127.5(EVC2):c.1145+19A>G rs1560206472
NM_147127.5(EVC2):c.1146-11G>A
NM_147127.5(EVC2):c.1146-11G>T
NM_147127.5(EVC2):c.1146-18G>T
NM_147127.5(EVC2):c.1146-19T>C
NM_147127.5(EVC2):c.1146-19T>G
NM_147127.5(EVC2):c.1146-5C>T
NM_147127.5(EVC2):c.1146-9G>C rs774847750
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
NM_147127.5(EVC2):c.1161C>G (p.Thr387=) rs1717278166
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
NM_147127.5(EVC2):c.1173A>C (p.Ala391=) rs1276908557
NM_147127.5(EVC2):c.1176T>C (p.Asp392=) rs1577195366
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
NM_147127.5(EVC2):c.1230G>A (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.1230G>T (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.123C>T (p.Pro41=) rs1722355414
NM_147127.5(EVC2):c.1245C>T (p.Thr415=) rs747208576
NM_147127.5(EVC2):c.1254C>T (p.Gly418=) rs2108864185
NM_147127.5(EVC2):c.1257C>T (p.His419=) rs1717268176
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1260C>T (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
NM_147127.5(EVC2):c.1309C>T (p.Leu437=) rs1434202396
NM_147127.5(EVC2):c.1311A>C (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
NM_147127.5(EVC2):c.1335G>A (p.Glu445=) rs2108863935
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
NM_147127.5(EVC2):c.1359A>T (p.Ala453=) rs1478613738
NM_147127.5(EVC2):c.1360T>C (p.Leu454=) rs2108863865
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
NM_147127.5(EVC2):c.1413G>A (p.Gln471=) rs2108863731
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
NM_147127.5(EVC2):c.144G>A (p.Arg48=) rs2151750018
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
NM_147127.5(EVC2):c.1470+10G>A rs1198809289
NM_147127.5(EVC2):c.1470+11_1470+19del
NM_147127.5(EVC2):c.1470+12C>G
NM_147127.5(EVC2):c.1470+7C>T
NM_147127.5(EVC2):c.1470+8A>G rs761155878
NM_147127.5(EVC2):c.1471-10C>T rs1439878397
NM_147127.5(EVC2):c.1471-12T>G
NM_147127.5(EVC2):c.1471-13T>C
NM_147127.5(EVC2):c.1471-17C>T
NM_147127.5(EVC2):c.1471-20T>C
NM_147127.5(EVC2):c.1471-4C>G rs947596816
NM_147127.5(EVC2):c.1471-5T>A rs1043283150
NM_147127.5(EVC2):c.1471-5T>C rs1043283150
NM_147127.5(EVC2):c.1471-8C>G rs2108851855
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1503C>A (p.Thr501=) rs369530549
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
NM_147127.5(EVC2):c.1509T>C (p.His503=) rs771803987
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
NM_147127.5(EVC2):c.150C>T (p.Pro50=) rs1347650453
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
NM_147127.5(EVC2):c.1563C>T (p.Asp521=)
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
NM_147127.5(EVC2):c.1578C>T (p.His526=)
NM_147127.5(EVC2):c.159T>C (p.Ala53=) rs2151749984
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
NM_147127.5(EVC2):c.1614C>T (p.His538=)
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
NM_147127.5(EVC2):c.1659A>G (p.Glu553=)
NM_147127.5(EVC2):c.1671G>A (p.Glu557=) rs2108851360
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
NM_147127.5(EVC2):c.1686G>T (p.Leu562=) rs1236419324
NM_147127.5(EVC2):c.1689G>A (p.Leu563=) rs2108851319
NM_147127.5(EVC2):c.1710+12G>A
NM_147127.5(EVC2):c.1710+14C>T
NM_147127.5(EVC2):c.1710+17G>A
NM_147127.5(EVC2):c.1710+17G>T
NM_147127.5(EVC2):c.1710+7C>T rs2108851268
NM_147127.5(EVC2):c.1710+8A>C
NM_147127.5(EVC2):c.1710+8A>G
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-14T>C
NM_147127.5(EVC2):c.1711-18T>G
NM_147127.5(EVC2):c.1711-19T>A
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.1711-9A>C rs1716315517
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
NM_147127.5(EVC2):c.174C>T (p.Pro58=) rs1317163956
NM_147127.5(EVC2):c.1752G>A (p.Lys584=) rs762593768
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
NM_147127.5(EVC2):c.1767T>C (p.Ser589=) rs2108847209
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
NM_147127.5(EVC2):c.1788A>G (p.Glu596=) rs2108847187
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=) rs1716303868
NM_147127.5(EVC2):c.1794G>T (p.Leu598=) rs1577179214
NM_147127.5(EVC2):c.1797C>T (p.Val599=) rs2108847158
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
NM_147127.5(EVC2):c.1812A>G (p.Ser604=) rs781487000
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
NM_147127.5(EVC2):c.1833C>A (p.Gly611=) rs879125910
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
NM_147127.5(EVC2):c.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1854C>T (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1857G>A (p.Gln619=) rs2108847045
NM_147127.5(EVC2):c.1860G>C (p.Leu620=) rs763402206
NM_147127.5(EVC2):c.1866C>T (p.His622=) rs1300374301
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
NM_147127.5(EVC2):c.1878G>A (p.Lys626=) rs1001648119
NM_147127.5(EVC2):c.1886+10A>C rs2108846937
NM_147127.5(EVC2):c.1886+13A>G
NM_147127.5(EVC2):c.1886+16G>A
NM_147127.5(EVC2):c.1886+9C>G
NM_147127.5(EVC2):c.1886+9C>T
NM_147127.5(EVC2):c.1887-12C>T
NM_147127.5(EVC2):c.1887-15A>G
NM_147127.5(EVC2):c.1887-16C>T
NM_147127.5(EVC2):c.1887-17A>C
NM_147127.5(EVC2):c.1887-18T>C
NM_147127.5(EVC2):c.1887-19T>G
NM_147127.5(EVC2):c.1887-4C>G rs376809175
NM_147127.5(EVC2):c.1887-4C>T
NM_147127.5(EVC2):c.1893G>A (p.Gly631=) rs1363412492
NM_147127.5(EVC2):c.1923A>T (p.Leu641=) rs1193715900
NM_147127.5(EVC2):c.1924T>C (p.Leu642=) rs2108843348
NM_147127.5(EVC2):c.1932G>A (p.Arg644=) rs1577175315
NM_147127.5(EVC2):c.1935T>C (p.Ala645=) rs2108843316
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
NM_147127.5(EVC2):c.1941A>G (p.Thr647=) rs2108843302
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
NM_147127.5(EVC2):c.1959G>A (p.Lys653=) rs2108843274
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
NM_147127.5(EVC2):c.2001C>G (p.Leu667=) rs756855227
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
NM_147127.5(EVC2):c.2019T>C (p.Thr673=) rs2108843154
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
NM_147127.5(EVC2):c.2031A>G (p.Arg677=) rs1577175103
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
NM_147127.5(EVC2):c.2046+10G>A
NM_147127.5(EVC2):c.2046+13T>C
NM_147127.5(EVC2):c.2046+14del
NM_147127.5(EVC2):c.2046+7A>G rs769477288
NM_147127.5(EVC2):c.2047-10G>A rs2108839481
NM_147127.5(EVC2):c.2047-17C>G
NM_147127.5(EVC2):c.2047-4C>G rs2108839468
NM_147127.5(EVC2):c.2047-4C>T
NM_147127.5(EVC2):c.2047-9A>C rs73198154
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
NM_147127.5(EVC2):c.2067G>A (p.Glu689=) rs201506848
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2139G>C (p.Leu713=) rs1420713271
NM_147127.5(EVC2):c.213C>A (p.Pro71=) rs956555128
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
NM_147127.5(EVC2):c.2181T>A (p.Arg727=) rs2108839127
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
NM_147127.5(EVC2):c.2208C>A (p.Leu736=) rs762567213
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
NM_147127.5(EVC2):c.2217G>T (p.Leu739=) rs2108839042
NM_147127.5(EVC2):c.2220C>A (p.Thr740=) rs1322356357
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
NM_147127.5(EVC2):c.2241C>T (p.Ala747=) rs2108838978
NM_147127.5(EVC2):c.2256G>T (p.Arg752=) rs745815880
NM_147127.5(EVC2):c.225G>A (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
NM_147127.5(EVC2):c.225G>T (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.2260C>T (p.Leu754=) rs994924513
NM_147127.5(EVC2):c.2262G>C (p.Leu754=) rs1715799265
NM_147127.5(EVC2):c.228+11C>T
NM_147127.5(EVC2):c.228+13C>T
NM_147127.5(EVC2):c.228+14G>A
NM_147127.5(EVC2):c.228+16C>T
NM_147127.5(EVC2):c.228+17C>A
NM_147127.5(EVC2):c.228+18C>G
NM_147127.5(EVC2):c.228+20A>C
NM_147127.5(EVC2):c.228+8G>A rs965425013
NM_147127.5(EVC2):c.228+9G>T
NM_147127.5(EVC2):c.229-14C>G
NM_147127.5(EVC2):c.229-18G>C
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
NM_147127.5(EVC2):c.2301G>A (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2301G>C (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
NM_147127.5(EVC2):c.2319G>A (p.Leu773=) rs775800077
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
NM_147127.5(EVC2):c.2328C>T (p.Ile776=) rs2108838807
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
NM_147127.5(EVC2):c.2346G>A (p.Lys782=) rs2108838756
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
NM_147127.5(EVC2):c.2358A>G (p.Ala786=) rs903048338
NM_147127.5(EVC2):c.2359C>A (p.Arg787=) rs776830520
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
NM_147127.5(EVC2):c.2361G>T (p.Arg787=) rs1041638769
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
NM_147127.5(EVC2):c.2373G>T (p.Leu791=) rs762295916
NM_147127.5(EVC2):c.237C>G (p.Pro79=) rs1721565602
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
NM_147127.5(EVC2):c.2412G>A (p.Gln804=) rs1715777770
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
NM_147127.5(EVC2):c.2433G>A (p.Lys811=) rs2108838539
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
NM_147127.5(EVC2):c.2451C>G (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
NM_147127.5(EVC2):c.2473C>T (p.Leu825=) rs774185697
NM_147127.5(EVC2):c.2481C>T (p.Arg827=) rs1577169762
NM_147127.5(EVC2):c.2490C>T (p.His830=) rs944565097
NM_147127.5(EVC2):c.2493G>A (p.Leu831=) rs369796222
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
NM_147127.5(EVC2):c.24G>A (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.24G>T (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.2501+14C>T
NM_147127.5(EVC2):c.2501+15G>A
NM_147127.5(EVC2):c.2501+17G>T rs755613338
NM_147127.5(EVC2):c.2501+19C>T
NM_147127.5(EVC2):c.2501+20G>C
NM_147127.5(EVC2):c.2501+7G>A
NM_147127.5(EVC2):c.2502-11C>G
NM_147127.5(EVC2):c.2502-12T>G
NM_147127.5(EVC2):c.2502-18C>G
NM_147127.5(EVC2):c.2502-20G>A
NM_147127.5(EVC2):c.2502-20G>C
NM_147127.5(EVC2):c.2502-7C>T
NM_147127.5(EVC2):c.2505G>A (p.Lys835=) rs527993206
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
NM_147127.5(EVC2):c.2514C>A (p.Ser838=) rs1715456441
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
NM_147127.5(EVC2):c.2544G>A (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2544G>C (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2568T>C (p.His856=)
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
NM_147127.5(EVC2):c.258G>A (p.Val86=)
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
NM_147127.5(EVC2):c.2616G>C (p.Arg872=) rs1715442469
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
NM_147127.5(EVC2):c.261A>G (p.Glu87=) rs1721564411
NM_147127.5(EVC2):c.2620C>A (p.Arg874=) rs760382778
NM_147127.5(EVC2):c.2631G>T (p.Leu877=) rs2108833246
NM_147127.5(EVC2):c.2649G>T (p.Ala883=) rs751714104
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
NM_147127.5(EVC2):c.2658A>G (p.Glu886=) rs2108833172
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
NM_147127.5(EVC2):c.2676G>A (p.Leu892=) rs2108833128
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
NM_147127.5(EVC2):c.2682G>A (p.Gln894=) rs772672973
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
NM_147127.5(EVC2):c.2703G>A (p.Leu901=) rs902054124
NM_147127.5(EVC2):c.2706+10A>G
NM_147127.5(EVC2):c.2706+11C>G
NM_147127.5(EVC2):c.2706+13T>A
NM_147127.5(EVC2):c.2706+16C>G
NM_147127.5(EVC2):c.2707-11C>T
NM_147127.5(EVC2):c.2707-15C>G rs2108829132
NM_147127.5(EVC2):c.2707-15C>T
NM_147127.5(EVC2):c.2707-4C>G rs1368840473
NM_147127.5(EVC2):c.2707-6C>T rs2108829097
NM_147127.5(EVC2):c.2707-7_2707-6insA
NM_147127.5(EVC2):c.2712G>A (p.Gln904=) rs2108829070
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
NM_147127.5(EVC2):c.273T>C (p.Phe91=) rs2151739532
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
NM_147127.5(EVC2):c.2757G>A (p.Glu919=) rs2108828983
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
NM_147127.5(EVC2):c.2775C>A (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2775C>T (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2781C>T (p.Asp927=) rs1193965705
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
NM_147127.5(EVC2):c.27C>G (p.Arg9=) rs2151750187
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
NM_147127.5(EVC2):c.2820G>C (p.Leu940=) rs145709352
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
NM_147127.5(EVC2):c.2829+11C>G
NM_147127.5(EVC2):c.2829+12T>G
NM_147127.5(EVC2):c.283+15T>C
NM_147127.5(EVC2):c.283+15del
NM_147127.5(EVC2):c.283+17G>A
NM_147127.5(EVC2):c.2830-10C>T
NM_147127.5(EVC2):c.2830-15C>A
NM_147127.5(EVC2):c.2830-18A>C
NM_147127.5(EVC2):c.2830-19C>T
NM_147127.5(EVC2):c.2830-5C>G rs1712137643
NM_147127.5(EVC2):c.2830-5C>T
NM_147127.5(EVC2):c.2830-7C>T
NM_147127.5(EVC2):c.2830-8C>T rs548370448
NM_147127.5(EVC2):c.2830-9C>T rs1414864322
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
NM_147127.5(EVC2):c.2838T>C (p.Gly946=) rs764538071
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.284-11T>C
NM_147127.5(EVC2):c.284-14T>C
NM_147127.5(EVC2):c.284-14T>G
NM_147127.5(EVC2):c.284-15GTT[2]
NM_147127.5(EVC2):c.284-16T>C
NM_147127.5(EVC2):c.284-19G>A
NM_147127.5(EVC2):c.284-20G>T
NM_147127.5(EVC2):c.284-5T>C rs994568319
NM_147127.5(EVC2):c.2842T>C (p.Leu948=) rs2108788809
NM_147127.5(EVC2):c.2847G>C (p.Leu949=) rs763331726
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
NM_147127.5(EVC2):c.2880G>A (p.Glu960=) rs903682822
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
NM_147127.5(EVC2):c.2898G>T (p.Ser966=) rs150055324
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
NM_147127.5(EVC2):c.2919G>A (p.Gln973=) rs759657816
NM_147127.5(EVC2):c.291A>C (p.Ala97=) rs752850734
NM_147127.5(EVC2):c.2928C>A (p.Ser976=) rs2108788636
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
NM_147127.5(EVC2):c.2937C>A (p.Thr979=) rs750126669
NM_147127.5(EVC2):c.2940G>A (p.Glu980=) rs2108788600
NM_147127.5(EVC2):c.2943T>C (p.Thr981=) rs2108788584
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2946G>A (p.Leu982=) rs2108788572
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=) rs2108788542
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
NM_147127.5(EVC2):c.2967C>T (p.Leu989=) rs2108788495
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
NM_147127.5(EVC2):c.2980T>C (p.Leu994=) rs2108788479
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=) rs1577118232
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=) rs1577118206
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val) rs2108788322
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=) rs182310332
NM_147127.5(EVC2):c.3051C>T (p.His1017=) rs2108788303
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
NM_147127.5(EVC2):c.3057+10G>T rs2108788255
NM_147127.5(EVC2):c.3057+11G>A
NM_147127.5(EVC2):c.3057+11G>T
NM_147127.5(EVC2):c.3057+12C>T
NM_147127.5(EVC2):c.3057+14_3057+16del
NM_147127.5(EVC2):c.3057+15T>C
NM_147127.5(EVC2):c.3057+9A>C rs774288170
NM_147127.5(EVC2):c.3057+9A>T
NM_147127.5(EVC2):c.3058-17G>A
NM_147127.5(EVC2):c.3058-20T>C
NM_147127.5(EVC2):c.3058-4G>T rs1490949079
NM_147127.5(EVC2):c.3058-7T>C
NM_147127.5(EVC2):c.3058-9C>T rs1722942659
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=) rs2108778947
NM_147127.5(EVC2):c.306A>G (p.Lys102=) rs2151736755
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=) rs1208477150
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=) rs1429408396
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=) rs2108778905
NM_147127.5(EVC2):c.3099G>A (p.Val1033=) rs2108778897
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
NM_147127.5(EVC2):c.30C>A (p.Pro10=) rs1193570001
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=) rs767047805
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=) rs770163191
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=) rs778954685
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=) rs2108778699
NM_147127.5(EVC2):c.3210C>G (p.Val1070=) rs1722925677
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=) rs2108778665
NM_147127.5(EVC2):c.3225C>T (p.His1075=) rs2108778650
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=) rs779116122
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=) rs1235779972
NM_147127.5(EVC2):c.3272+20G>A
NM_147127.5(EVC2):c.3272+20G>T
NM_147127.5(EVC2):c.3272+8G>T
NM_147127.5(EVC2):c.3273-19T>C
NM_147127.5(EVC2):c.3273-6C>T
NM_147127.5(EVC2):c.3273-7A>C
NM_147127.5(EVC2):c.3273-7A>G rs1382818953
NM_147127.5(EVC2):c.3273-7dup rs2108777051
NM_147127.5(EVC2):c.3273-8C>A
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=) rs1462214483
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=) rs1722813978
NM_147127.5(EVC2):c.3360+16del
NM_147127.5(EVC2):c.3361-10T>C rs2108771027
NM_147127.5(EVC2):c.3361-11G>A rs369005788
NM_147127.5(EVC2):c.3361-14G>A
NM_147127.5(EVC2):c.3361-18C>T
NM_147127.5(EVC2):c.3361-20C>T
NM_147127.5(EVC2):c.3361-7C>T rs772860972
NM_147127.5(EVC2):c.3361-8T>A rs1358459718
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=) rs1722461930
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=) rs2108770980
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=) rs752793772
NM_147127.5(EVC2):c.339C>G (p.Leu113=)
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=) rs1577099807
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=) rs2108770885
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=) rs1722452266
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=) rs2108770821
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=) rs1722451421
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=) rs760612657
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=) rs767393828
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3546G>A (p.Val1182=)
NM_147127.5(EVC2):c.3546G>C (p.Val1182=) rs2108770634
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=) rs1376155432
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=) rs545528367
NM_147127.5(EVC2):c.3557+10G>T
NM_147127.5(EVC2):c.3557+15G>A
NM_147127.5(EVC2):c.3557+15G>C
NM_147127.5(EVC2):c.3557+18G>A
NM_147127.5(EVC2):c.3557+18G>T
NM_147127.5(EVC2):c.3557+20T>C
NM_147127.5(EVC2):c.3557+9C>G
NM_147127.5(EVC2):c.3558-12T>C
NM_147127.5(EVC2):c.3558-19A>G
NM_147127.5(EVC2):c.3558-19A>T
NM_147127.5(EVC2):c.3558-4G>A rs746098929
NM_147127.5(EVC2):c.3558-4G>T
NM_147127.5(EVC2):c.3558-6C>G
NM_147127.5(EVC2):c.3558-7C>T rs2108767379
NM_147127.5(EVC2):c.3558-9del rs2108767385
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=) rs1485389885
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=) rs754595798
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=) rs1392499941
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
NM_147127.5(EVC2):c.3659+10G>T
NM_147127.5(EVC2):c.3659+12C>T
NM_147127.5(EVC2):c.3659+13A>G
NM_147127.5(EVC2):c.3659+14C>G
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
NM_147127.5(EVC2):c.3659+20C>T
NM_147127.5(EVC2):c.3660-12C>A
NM_147127.5(EVC2):c.3660-12C>T
NM_147127.5(EVC2):c.3660-15T>C
NM_147127.5(EVC2):c.3660-18C>G
NM_147127.5(EVC2):c.3660-18C>T
NM_147127.5(EVC2):c.3660-5T>C rs2108765328
NM_147127.5(EVC2):c.3660-6C>T rs1722062295
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=) rs1722060400
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=) rs1157926409
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=) rs150551872
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=) rs375566943
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=) rs2108765239
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=) rs1260164978
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
NM_147127.5(EVC2):c.3774A>T (p.Val1258=) rs2108765124
NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=) rs2108764998
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=) rs1722042643
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=) rs2108764900
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
NM_147127.5(EVC2):c.399C>T (p.Ser133=) rs2151736611
NM_147127.5(EVC2):c.417A>G (p.Leu139=) rs2151736587
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
NM_147127.5(EVC2):c.450+10_450+14del rs2151736515
NM_147127.5(EVC2):c.450+12G>A
NM_147127.5(EVC2):c.450+15C>A
NM_147127.5(EVC2):c.450+15C>G
NM_147127.5(EVC2):c.450+15C>T
NM_147127.5(EVC2):c.450+16A>G
NM_147127.5(EVC2):c.450+17A>T rs370958428
NM_147127.5(EVC2):c.450+18T>C
NM_147127.5(EVC2):c.450+8T>C
NM_147127.5(EVC2):c.450+9T>C rs2151736518
NM_147127.5(EVC2):c.451-13C>T
NM_147127.5(EVC2):c.451-16T>C
NM_147127.5(EVC2):c.451-17T>C
NM_147127.5(EVC2):c.451-18T>G
NM_147127.5(EVC2):c.451-7dup
NM_147127.5(EVC2):c.451-8T>C rs1721108385
NM_147127.5(EVC2):c.451-9T>C
NM_147127.5(EVC2):c.45C>G (p.Ala15=) rs1285560156
NM_147127.5(EVC2):c.465A>C (p.Ser155=) rs1001393610
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
NM_147127.5(EVC2):c.489A>G (p.Glu163=) rs2151733929
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
NM_147127.5(EVC2):c.498A>T (p.Val166=)
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
NM_147127.5(EVC2):c.517C>T (p.Leu173=) rs2151733903
NM_147127.5(EVC2):c.519+20G>A
NM_147127.5(EVC2):c.519+7T>G
NM_147127.5(EVC2):c.520-10_520-8del
NM_147127.5(EVC2):c.520-13C>T
NM_147127.5(EVC2):c.520-14T>G
NM_147127.5(EVC2):c.520-18C>T rs2151731962
NM_147127.5(EVC2):c.520-19C>G
NM_147127.5(EVC2):c.520-19C>T
NM_147127.5(EVC2):c.520-4C>G
NM_147127.5(EVC2):c.520-4C>T rs764449545
NM_147127.5(EVC2):c.520-5C>T
NM_147127.5(EVC2):c.520-8T>C rs2151731945
NM_147127.5(EVC2):c.520-9C>G
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
NM_147127.5(EVC2):c.531G>T (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
NM_147127.5(EVC2):c.594C>A (p.Ala198=) rs1482138140
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
NM_147127.5(EVC2):c.627T>A (p.Ile209=) rs1415784175
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
NM_147127.5(EVC2):c.639C>G (p.Thr213=) rs1323570343
NM_147127.5(EVC2):c.648C>T (p.Asp216=) rs1720936758
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
NM_147127.5(EVC2):c.666C>T (p.Thr222=) rs372079686
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
NM_147127.5(EVC2):c.684T>G (p.Ala228=) rs2151731613
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
NM_147127.5(EVC2):c.6C>T (p.Asp2=) rs939013967
NM_147127.5(EVC2):c.706+12G>A
NM_147127.5(EVC2):c.706+14G>A
NM_147127.5(EVC2):c.707-10C>G
NM_147127.5(EVC2):c.707-10C>T
NM_147127.5(EVC2):c.707-15C>G
NM_147127.5(EVC2):c.707-15C>T
NM_147127.5(EVC2):c.707-17T>G
NM_147127.5(EVC2):c.707-20A>G
NM_147127.5(EVC2):c.707-20A>T
NM_147127.5(EVC2):c.707-4G>T rs113806963
NM_147127.5(EVC2):c.707-6G>A rs2151728173
NM_147127.5(EVC2):c.707-7T>G
NM_147127.5(EVC2):c.714T>C (p.Asp238=) rs977594999
NM_147127.5(EVC2):c.717C>A (p.Ala239=) rs2151728147
NM_147127.5(EVC2):c.726C>T (p.Val242=)
NM_147127.5(EVC2):c.72G>C (p.Ala24=) rs2151750115
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser) rs530937415
NM_147127.5(EVC2):c.735A>G (p.Ala245=) rs2151728120
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
NM_147127.5(EVC2):c.777C>T (p.Leu259=) rs754899418
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
NM_147127.5(EVC2):c.789C>T (p.Ala263=) rs2151728052
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.810G>T (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.816+13T>C
NM_147127.5(EVC2):c.816+14T>A
NM_147127.5(EVC2):c.816+19T>C
NM_147127.5(EVC2):c.816+8C>G rs2151727996
NM_147127.5(EVC2):c.817-10C>A rs750153523
NM_147127.5(EVC2):c.817-12T>C
NM_147127.5(EVC2):c.817-15T>G
NM_147127.5(EVC2):c.817-17C>T
NM_147127.5(EVC2):c.817-19T>C
NM_147127.5(EVC2):c.817-19_817-18del
NM_147127.5(EVC2):c.817-5T>A
NM_147127.5(EVC2):c.817-5T>C rs2151724161
NM_147127.5(EVC2):c.817-6T>G
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
NM_147127.5(EVC2):c.829C>T (p.Leu277=) rs2151724132
NM_147127.5(EVC2):c.831G>A (p.Leu277=) rs376314429
NM_147127.5(EVC2):c.852A>C (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.870+10A>G rs779971622
NM_147127.5(EVC2):c.870+14C>G
NM_147127.5(EVC2):c.870+15A>G
NM_147127.5(EVC2):c.870+20C>G
NM_147127.5(EVC2):c.870+7G>A
NM_147127.5(EVC2):c.871-10G>A
NM_147127.5(EVC2):c.871-10G>T rs1474138185
NM_147127.5(EVC2):c.871-19T>A
NM_147127.5(EVC2):c.871-4A>G
NM_147127.5(EVC2):c.871-6C>T
NM_147127.5(EVC2):c.871-9T>C
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
NM_147127.5(EVC2):c.879G>T (p.Pro293=) rs150699446
NM_147127.5(EVC2):c.87C>T (p.Gly29=) rs2151750094
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
NM_147127.5(EVC2):c.897A>C (p.Ala299=) rs763124334
NM_147127.5(EVC2):c.897A>G (p.Ala299=)
NM_147127.5(EVC2):c.903G>A (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.90T>C (p.Cys30=) rs1722360264
NM_147127.5(EVC2):c.927C>G (p.Ser309=) rs2108900060
NM_147127.5(EVC2):c.930T>G (p.Leu310=)
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
NM_147127.5(EVC2):c.939C>T (p.Thr313=) rs1322685892
NM_147127.5(EVC2):c.93C>G (p.Leu31=)
NM_147127.5(EVC2):c.951C>T (p.Leu317=)
NM_147127.5(EVC2):c.954C>T (p.Phe318=)
NM_147127.5(EVC2):c.957C>G (p.Leu319=)
NM_147127.5(EVC2):c.966C>T (p.Arg322=)
NM_147127.5(EVC2):c.96C>T (p.Gly32=) rs1722358000
NM_147127.5(EVC2):c.981G>A (p.Lys327=) rs2108899931
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
NM_147127.5(EVC2):c.987C>T (p.Asn329=) rs2108899904
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
NM_147127.5(EVC2):c.996C>T (p.Thr332=)
NM_153717.3(EVC):c.1005C>T (p.Ser335=) rs895165309
NM_153717.3(EVC):c.1008C>T (p.Ser336=)
NM_153717.3(EVC):c.1017C>T (p.Ala339=)
NM_153717.3(EVC):c.1018C>A (p.Arg340=) rs121908425
NM_153717.3(EVC):c.1020A>G (p.Arg340=)
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
NM_153717.3(EVC):c.102G>C (p.Leu34=)
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=)
NM_153717.3(EVC):c.105C>T (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1089G>A (p.Leu363=)
NM_153717.3(EVC):c.1089G>C (p.Leu363=)
NM_153717.3(EVC):c.1098+12G>C
NM_153717.3(EVC):c.1098+13G>C
NM_153717.3(EVC):c.1098+16G>A
NM_153717.3(EVC):c.1098+16G>T
NM_153717.3(EVC):c.1098+17C>T
NM_153717.3(EVC):c.1098+18G>T
NM_153717.3(EVC):c.1098+20G>C
NM_153717.3(EVC):c.1098+20G>T
NM_153717.3(EVC):c.1098+8T>C
NM_153717.3(EVC):c.1099-10C>A rs1465530933
NM_153717.3(EVC):c.1099-14G>A
NM_153717.3(EVC):c.1099-20C>T
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC rs2152075906
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
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=)
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
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=)
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=)
NM_153717.3(EVC):c.1176G>A (p.Glu392=) rs752626166
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
NM_153717.3(EVC):c.117C>A (p.Gly39=)
NM_153717.3(EVC):c.1189C>T (p.Leu397=)
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>T (p.Ser401=) rs867155796
NM_153717.3(EVC):c.120C>A (p.Leu40=) rs1407286365
NM_153717.3(EVC):c.120C>G (p.Leu40=)
NM_153717.3(EVC):c.120C>T (p.Leu40=)
NM_153717.3(EVC):c.1210C>T (p.Leu404=) rs2152076460
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
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=)
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
NM_153717.3(EVC):c.123C>A (p.Gly41=)
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=)
NM_153717.3(EVC):c.126C>T (p.Leu42=)
NM_153717.3(EVC):c.1287C>T (p.Phe429=) rs2152076737
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
NM_153717.3(EVC):c.1315+11G>C
NM_153717.3(EVC):c.1315+14A>G
NM_153717.3(EVC):c.1315+16_1315+27del
NM_153717.3(EVC):c.1315+8G>T
NM_153717.3(EVC):c.1316-14T>C
NM_153717.3(EVC):c.1316-20G>A
NM_153717.3(EVC):c.1316-20G>T
NM_153717.3(EVC):c.1316-4C>T
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
NM_153717.3(EVC):c.1344C>T (p.Val448=) rs2152081344
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
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=)
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
NM_153717.3(EVC):c.1437G>A (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1437G>T (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
NM_153717.3(EVC):c.1464+12C>A
NM_153717.3(EVC):c.1464+12C>G rs753296851
NM_153717.3(EVC):c.1464+19C>T
NM_153717.3(EVC):c.1464+7C>G
NM_153717.3(EVC):c.1464+8A>T rs116236414
NM_153717.3(EVC):c.1465-12T>G
NM_153717.3(EVC):c.1465-13G>A
NM_153717.3(EVC):c.1465-15_1465-14del
NM_153717.3(EVC):c.1465-15_1465-14dup
NM_153717.3(EVC):c.1465-18C>T
NM_153717.3(EVC):c.1465-4A>G
NM_153717.3(EVC):c.1465-5C>A
NM_153717.3(EVC):c.1465-7C>T
NM_153717.3(EVC):c.1465-8C>T
NM_153717.3(EVC):c.1465-9T>C
NM_153717.3(EVC):c.1473T>C (p.His491=)
NM_153717.3(EVC):c.1479C>T (p.Val493=)
NM_153717.3(EVC):c.147C>A (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
NM_153717.3(EVC):c.150G>C (p.Ala50=) rs1257185745
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
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.1531A>C (p.Arg511=) rs2152094988
NM_153717.3(EVC):c.1563+10C>T rs2152095141
NM_153717.3(EVC):c.1563+13T>C
NM_153717.3(EVC):c.1563+14G>A
NM_153717.3(EVC):c.1563+15T>G
NM_153717.3(EVC):c.1563+16G>A
NM_153717.3(EVC):c.1563+7G>A
NM_153717.3(EVC):c.1564-10T>G
NM_153717.3(EVC):c.1564-15G>T
NM_153717.3(EVC):c.1564-19C>G
NM_153717.3(EVC):c.1564-7G>C
NM_153717.3(EVC):c.1564-7G>T
NM_153717.3(EVC):c.1564-9C>T rs1361893356
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
NM_153717.3(EVC):c.1572C>T (p.Tyr524=) rs1735952327
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
NM_153717.3(EVC):c.1593C>T (p.Phe531=) rs771775185
NM_153717.3(EVC):c.1605G>A (p.Val535=)
NM_153717.3(EVC):c.1611C>T (p.Ala537=) rs765193502
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
NM_153717.3(EVC):c.1623G>A (p.Gln541=) rs2152288778
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
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=)
NM_153717.3(EVC):c.1650C>A (p.Pro550=) rs1187336928
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
NM_153717.3(EVC):c.1662T>C (p.Cys554=) rs2152288989
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
NM_153717.3(EVC):c.1683C>A (p.Val561=)
NM_153717.3(EVC):c.1683C>G (p.Val561=) rs913909906
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
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=)
NM_153717.3(EVC):c.1737G>A (p.Gln579=) rs768788576
NM_153717.3(EVC):c.174+11C>G
NM_153717.3(EVC):c.174+12G>A
NM_153717.3(EVC):c.174+14G>A
NM_153717.3(EVC):c.174+16_174+30del
NM_153717.3(EVC):c.174+7C>G
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.174+8G>C
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
NM_153717.3(EVC):c.1746C>A (p.Leu582=) rs1029833383
NM_153717.3(EVC):c.175-19C>G
NM_153717.3(EVC):c.175-19C>T
NM_153717.3(EVC):c.175-20T>C
NM_153717.3(EVC):c.175-9G>C rs753317536
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
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
NM_153717.3(EVC):c.1776+9A>G rs2152289531
NM_153717.3(EVC):c.1777-13G>C
NM_153717.3(EVC):c.1777-15C>G
NM_153717.3(EVC):c.1777-17C>G
NM_153717.3(EVC):c.1777-19C>T
NM_153717.3(EVC):c.1777-9C>G
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1779G>A (p.Val593=)
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.1800G>T (p.Leu600=)
NM_153717.3(EVC):c.1803C>T (p.Ser601=) rs2152326514
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
NM_153717.3(EVC):c.1821C>T (p.His607=) rs779056864
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
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
NM_153717.3(EVC):c.1886+13C>T
NM_153717.3(EVC):c.1886+16T>C
NM_153717.3(EVC):c.1886+17G>C
NM_153717.3(EVC):c.1886+7A>G rs2152326793
NM_153717.3(EVC):c.1887-19T>G
NM_153717.3(EVC):c.1887-4A>C rs2152340153
NM_153717.3(EVC):c.1887-5C>T
NM_153717.3(EVC):c.1890C>T (p.Ser630=) rs2152340181
NM_153717.3(EVC):c.1893G>A (p.Thr631=) rs1017858503
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=)
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.1938C>T (p.Leu646=)
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.195G>T (p.Leu65=)
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=)
NM_153717.3(EVC):c.1971C>T (p.Ala657=) rs2152340517
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
NM_153717.3(EVC):c.198C>T (p.Leu66=)
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.2013G>A (p.Leu671=)
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
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=)
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
NM_153717.3(EVC):c.205T>C (p.Leu69=)
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=)
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
NM_153717.3(EVC):c.2097+10G>T
NM_153717.3(EVC):c.2097+12A>G rs112766640
NM_153717.3(EVC):c.2098-13C>G
NM_153717.3(EVC):c.2098-20C>T
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.2112G>A (p.Leu704=)
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
NM_153717.3(EVC):c.213T>C (p.Ser71=)
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=)
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.2187C>A (p.Ala729=)
NM_153717.3(EVC):c.2196G>A (p.Val732=)
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
NM_153717.3(EVC):c.219G>T (p.Ala73=)
NM_153717.3(EVC):c.21C>G (p.Ala7=)
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)
NM_153717.3(EVC):c.222G>A (p.Gln74=)
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
NM_153717.3(EVC):c.2256A>G (p.Ala752=) rs746682279
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
NM_153717.3(EVC):c.225C>A (p.Thr75=)
NM_153717.3(EVC):c.225C>G (p.Thr75=)
NM_153717.3(EVC):c.2262T>C (p.Asn754=) rs1714441484
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
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=)
NM_153717.3(EVC):c.2295T>C (p.Asp765=) rs2152346059
NM_153717.3(EVC):c.2304+10G>C
NM_153717.3(EVC):c.2304+10G>T
NM_153717.3(EVC):c.2304+15_2304+16del
NM_153717.3(EVC):c.2304+19C>T
NM_153717.3(EVC):c.2304+8C>G
NM_153717.3(EVC):c.2304+9T>A rs2152346132
NM_153717.3(EVC):c.2305-13T>C
NM_153717.3(EVC):c.2305-15C>T
NM_153717.3(EVC):c.2305-17T>C
NM_153717.3(EVC):c.2305-19C>A
NM_153717.3(EVC):c.2305-19C>T
NM_153717.3(EVC):c.2305-8_2305-7delinsCT rs2152361700
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
NM_153717.3(EVC):c.2311C>T (p.Leu771=) rs763546632
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
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.2340C>T (p.Tyr780=)
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
NM_153717.3(EVC):c.2361C>T (p.Ser787=) rs1412709981
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
NM_153717.3(EVC):c.2370G>A (p.Val790=)
NM_153717.3(EVC):c.2376G>C (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
NM_153717.3(EVC):c.2434C>T (p.Leu812=) rs1161329338
NM_153717.3(EVC):c.243C>G (p.Ser81=)
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>G
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2449+13C>G
NM_153717.3(EVC):c.2449+13C>T
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+15C>G
NM_153717.3(EVC):c.2449+15_2449+16insA
NM_153717.3(EVC):c.2449+9C>A
NM_153717.3(EVC):c.2450-16G>A
NM_153717.3(EVC):c.2450-18C>T
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.24C>T (p.Cys8=)
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
NM_153717.3(EVC):c.2520G>C (p.Thr840=) rs187406722
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
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=)
NM_153717.3(EVC):c.2561+10C>A
NM_153717.3(EVC):c.2561+11A>C
NM_153717.3(EVC):c.2561+12A>C
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+13C>A
NM_153717.3(EVC):c.2561+18G>A
NM_153717.3(EVC):c.2561+8C>T
NM_153717.3(EVC):c.2562-13_2562-12delinsCC rs2152387572
NM_153717.3(EVC):c.2562-18del
NM_153717.3(EVC):c.2562-19C>G
NM_153717.3(EVC):c.2562-20G>T
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.2562-6C>T rs1480753304
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
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.2601A>C (p.Pro867=)
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=)
NM_153717.3(EVC):c.2619T>A (p.Arg873=) rs1716320466
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
NM_153717.3(EVC):c.2622G>T (p.Leu874=) rs1399378301
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
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
NM_153717.3(EVC):c.2688+11C>T
NM_153717.3(EVC):c.2688+19G>A
NM_153717.3(EVC):c.2688+8_2688+13del rs2152388021
NM_153717.3(EVC):c.2689-11_2689-8del
NM_153717.3(EVC):c.2689-16T>C
NM_153717.3(EVC):c.2689-19C>T
NM_153717.3(EVC):c.2689-20C>A
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=)
NM_153717.3(EVC):c.2733A>C (p.Arg911=) rs1478690927
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
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=)
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
NM_153717.3(EVC):c.2782+12A>G
NM_153717.3(EVC):c.2782+13T>A rs2152392158
NM_153717.3(EVC):c.2782+15C>T
NM_153717.3(EVC):c.2782+15_2782+18dup
NM_153717.3(EVC):c.2782+19A>T
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
NM_153717.3(EVC):c.2783-11del
NM_153717.3(EVC):c.2783-4A>G
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
NM_153717.3(EVC):c.279G>C (p.Ser93=)
NM_153717.3(EVC):c.27G>A (p.Lys9=)
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
NM_153717.3(EVC):c.2817G>T (p.Leu939=) rs1716697966
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
NM_153717.3(EVC):c.2835C>T (p.Asp945=) rs2152394497
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
NM_153717.3(EVC):c.2844G>T (p.Val948=)
NM_153717.3(EVC):c.2853T>C (p.Asn951=) rs371561252
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
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.2889A>G (p.Ser963=) rs2152394684
NM_153717.3(EVC):c.288G>A (p.Lys96=) rs1577324357
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
NM_153717.3(EVC):c.2894+11G>T
NM_153717.3(EVC):c.2894+12C>T
NM_153717.3(EVC):c.2894+14C>T
NM_153717.3(EVC):c.2894+15C>T
NM_153717.3(EVC):c.2894+16G>A
NM_153717.3(EVC):c.2894+18A>T
NM_153717.3(EVC):c.2894+7C>G rs2152394737
NM_153717.3(EVC):c.2894+8T>C
NM_153717.3(EVC):c.2895-12C>G
NM_153717.3(EVC):c.2895-12_2895-10del
NM_153717.3(EVC):c.2895-16del rs761097524
NM_153717.3(EVC):c.2895-20C>A
NM_153717.3(EVC):c.2895-20C>T
NM_153717.3(EVC):c.2895-8_2895-4del
NM_153717.3(EVC):c.2898C>T (p.Ser966=) rs1716824868
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784
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=)
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
NM_153717.3(EVC):c.2934C>T (p.Asp978=) rs1241792860
NM_153717.3(EVC):c.2946A>G (p.Ser982=) rs1388651029
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
NM_153717.3(EVC):c.2976G>A (p.Leu992=) rs1577673719
NM_153717.3(EVC):c.2979G>A (p.Ter993=) rs767957964
NM_153717.3(EVC):c.297T>G (p.Val99=)
NM_153717.3(EVC):c.300+14T>G
NM_153717.3(EVC):c.300+17T>G
NM_153717.3(EVC):c.300+19T>C
NM_153717.3(EVC):c.300+20T>C
NM_153717.3(EVC):c.300+24_300+27del
NM_153717.3(EVC):c.300+7T>A
NM_153717.3(EVC):c.301-10dup
NM_153717.3(EVC):c.301-13C>G
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=)
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
NM_153717.3(EVC):c.333A>G (p.Thr111=)
NM_153717.3(EVC):c.333A>T (p.Thr111=)
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.37C>T (p.Arg13Trp)
NM_153717.3(EVC):c.384+10_384+12dup rs2151919610
NM_153717.3(EVC):c.384+10del
NM_153717.3(EVC):c.384+12G>C rs1192867917
NM_153717.3(EVC):c.384+15C>G
NM_153717.3(EVC):c.385-13A>G
NM_153717.3(EVC):c.385-20G>A
NM_153717.3(EVC):c.385-20G>T
NM_153717.3(EVC):c.385-6C>T rs1167563102
NM_153717.3(EVC):c.385-7A>T
NM_153717.3(EVC):c.390G>T (p.Leu130=) rs2151934901
NM_153717.3(EVC):c.393C>G (p.Ala131=)
NM_153717.3(EVC):c.393C>T (p.Ala131=) rs374197757
NM_153717.3(EVC):c.399C>T (p.Gly133=)
NM_153717.3(EVC):c.39G>A (p.Arg13=) rs1479357518
NM_153717.3(EVC):c.402C>T (p.Ser134=)
NM_153717.3(EVC):c.405C>T (p.Ser135=) rs2151934982
NM_153717.3(EVC):c.411G>T (p.Pro137=)
NM_153717.3(EVC):c.414T>C (p.Ser138=)
NM_153717.3(EVC):c.417G>T (p.Leu139=)
NM_153717.3(EVC):c.42G>A (p.Leu14=) rs1213156946
NM_153717.3(EVC):c.435G>A (p.Gln145=)
NM_153717.3(EVC):c.438T>C (p.Ala146=)
NM_153717.3(EVC):c.438T>G (p.Ala146=) rs200690823
NM_153717.3(EVC):c.441T>G (p.Val147=) rs1192506036
NM_153717.3(EVC):c.456G>C (p.Pro152=)
NM_153717.3(EVC):c.456G>T (p.Pro152=)
NM_153717.3(EVC):c.459A>G (p.Val153=)
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=)
NM_153717.3(EVC):c.48G>A (p.Leu16=)
NM_153717.3(EVC):c.492G>A (p.Leu164=)
NM_153717.3(EVC):c.507G>A (p.Lys169=)
NM_153717.3(EVC):c.528C>G (p.Ser176=)
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=)
NM_153717.3(EVC):c.540G>T (p.Ser180=)
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=)
NM_153717.3(EVC):c.573C>G (p.Thr191=)
NM_153717.3(EVC):c.579C>T (p.Leu193=)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.594C>T (p.Phe198=) rs1224007808
NM_153717.3(EVC):c.597T>C (p.Pro199=)
NM_153717.3(EVC):c.603G>A (p.Val201=) rs2151936107
NM_153717.3(EVC):c.604C>T (p.Leu202=)
NM_153717.3(EVC):c.609C>T (p.Ala203=) rs2151936137
NM_153717.3(EVC):c.60G>C (p.Ala20=)
NM_153717.3(EVC):c.617+11C>T
NM_153717.3(EVC):c.617+12G>A
NM_153717.3(EVC):c.617+14G>T
NM_153717.3(EVC):c.617+15C>A
NM_153717.3(EVC):c.617+15C>T
NM_153717.3(EVC):c.617+18T>C
NM_153717.3(EVC):c.617+18T>G
NM_153717.3(EVC):c.617+19G>A
NM_153717.3(EVC):c.617+20G>T
NM_153717.3(EVC):c.618-13T>A
NM_153717.3(EVC):c.618-14A>C rs767274362
NM_153717.3(EVC):c.618-15C>T
NM_153717.3(EVC):c.618-18T>G
NM_153717.3(EVC):c.618-19T>C
NM_153717.3(EVC):c.618-9A>T rs2151945814
NM_153717.3(EVC):c.630C>T (p.Asp210=) rs1339867475
NM_153717.3(EVC):c.633G>T (p.Leu211=)
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=)
NM_153717.3(EVC):c.666G>A (p.Leu222=) rs1560299816
NM_153717.3(EVC):c.66G>A (p.Arg22=)
NM_153717.3(EVC):c.66G>C (p.Arg22=)
NM_153717.3(EVC):c.678G>A (p.Thr226=)
NM_153717.3(EVC):c.678G>C (p.Thr226=) rs772621806
NM_153717.3(EVC):c.681A>G (p.Ala227=)
NM_153717.3(EVC):c.69G>A (p.Pro23=) rs1722996127
NM_153717.3(EVC):c.702+12T>C
NM_153717.3(EVC):c.702+13G>A
NM_153717.3(EVC):c.702+15T>C
NM_153717.3(EVC):c.702+17G>A
NM_153717.3(EVC):c.702+18C>T
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
NM_153717.3(EVC):c.703-15C>T
NM_153717.3(EVC):c.703-17T>C
NM_153717.3(EVC):c.703-19T>G
NM_153717.3(EVC):c.703-20C>T
NM_153717.3(EVC):c.703-5_703-4dup
NM_153717.3(EVC):c.703-7G>A rs2152000339
NM_153717.3(EVC):c.703-8G>C
NM_153717.3(EVC):c.729C>T (p.Cys243=)
NM_153717.3(EVC):c.72G>C (p.Ala24=)
NM_153717.3(EVC):c.72G>T (p.Ala24=)
NM_153717.3(EVC):c.732C>T (p.Leu244=) rs1035355173
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
NM_153717.3(EVC):c.747T>A (p.Pro249=)
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=)
NM_153717.3(EVC):c.792A>G (p.Lys264=) rs2152001052
NM_153717.3(EVC):c.801+12A>G
NM_153717.3(EVC):c.801+13C>T rs545838582
NM_153717.3(EVC):c.801+14C>A
NM_153717.3(EVC):c.801+16A>T
NM_153717.3(EVC):c.801+16_801+17del
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.802-18T>C
NM_153717.3(EVC):c.802-19T>C
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=)
NM_153717.3(EVC):c.813A>G (p.Glu271=)
NM_153717.3(EVC):c.81G>T (p.Leu27=) rs2151767494
NM_153717.3(EVC):c.822G>A (p.Lys274=)
NM_153717.3(EVC):c.82C>T (p.Leu28=)
NM_153717.3(EVC):c.831G>A (p.Gln277=) rs2152027341
NM_153717.3(EVC):c.834C>T (p.Val278=) rs575589201
NM_153717.3(EVC):c.843A>G (p.Ser281=) rs2152027396
NM_153717.3(EVC):c.846C>T (p.Asn282=)
NM_153717.3(EVC):c.84G>A (p.Leu28=)
NM_153717.3(EVC):c.858G>T (p.Ser286=)
NM_153717.3(EVC):c.861G>A (p.Gly287=)
NM_153717.3(EVC):c.870C>T (p.Asp290=)
NM_153717.3(EVC):c.873T>A (p.Ser291=) rs1577407384
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
NM_153717.3(EVC):c.87C>G (p.Ala29=)
NM_153717.3(EVC):c.87C>T (p.Ala29=)
NM_153717.3(EVC):c.891T>A (p.Ala297=)
NM_153717.3(EVC):c.903G>A (p.Lys301=) rs2152027698
NM_153717.3(EVC):c.90C>T (p.Pro30=)
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.933C>T (p.Ile311=) rs759718572
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
NM_153717.3(EVC):c.939+13C>A
NM_153717.3(EVC):c.939+16T>A
NM_153717.3(EVC):c.939+16T>C
NM_153717.3(EVC):c.939+17C>T
NM_153717.3(EVC):c.939+20T>A
NM_153717.3(EVC):c.939+9_939+10inv
NM_153717.3(EVC):c.93C>T (p.Ala31=) rs866226288
NM_153717.3(EVC):c.940-14T>C
NM_153717.3(EVC):c.940-15G>A
NM_153717.3(EVC):c.940-15G>T
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=)
NM_153717.3(EVC):c.990C>T (p.Asp330=) rs2152045173
NM_153717.3(EVC):c.999G>A (p.Lys333=) rs1729659333
NM_153717.3(EVC):c.9C>A (p.Arg3=) rs1330946337

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