NC_000004.12:g.(?_5729297)_(5758135_?)del


NC_000004.12:g.(?_5797002)_(5797252_?)del


NM_153717.3(EVC):c.*104G>A

rs753484436 
NM_153717.3(EVC):c.*1060A>C

rs71599848 
NM_153717.3(EVC):c.*1069A>G

rs13147953 
NM_153717.3(EVC):c.*1083T>G

rs71599850 
NM_153717.3(EVC):c.*1176C>A

rs13121710 
NM_153717.3(EVC):c.*1185A>G

rs113728951 
NM_153717.3(EVC):c.*1218C>T

rs12501119 
NM_153717.3(EVC):c.*1248T>G

rs559890176 
NM_153717.3(EVC):c.*1318G>C

rs67547790 
NM_153717.3(EVC):c.*1374G>C

rs549720489 
NM_153717.3(EVC):c.*1375A>G

rs114994758 
NM_153717.3(EVC):c.*1395C>T

rs886059513 
NM_153717.3(EVC):c.*1403C>T

rs547015924 
NM_153717.3(EVC):c.*1428C>G

rs574764934 
NM_153717.3(EVC):c.*1439C>T

rs188270163 
NM_153717.3(EVC):c.*14G>A

rs2291151 
NM_153717.3(EVC):c.*1512T>C

rs576620294 
NM_153717.3(EVC):c.*1515A>T

rs545639856 
NM_153717.3(EVC):c.*1568C>T

rs886059514 
NM_153717.3(EVC):c.*1592C>T

rs193184679 
NM_153717.3(EVC):c.*1648T>C

rs371788560 
NM_153717.3(EVC):c.*1684A>G

rs886059515 
NM_153717.3(EVC):c.*1700C>T

rs74690944 
NM_153717.3(EVC):c.*1845del

rs397690241 
NM_153717.3(EVC):c.*1849C>G

rs75438311 
NM_153717.3(EVC):c.*1871C>T

rs150764469 
NM_153717.3(EVC):c.*1981A>G

rs886059516 
NM_153717.3(EVC):c.*198G>A

rs181401771 
NM_153717.3(EVC):c.*2009T>C

rs79152885 
NM_153717.3(EVC):c.*210C>A

rs16837692 
NM_153717.3(EVC):c.*2125T>G

rs139771274 
NM_153717.3(EVC):c.*2126T>G

rs191415414 
NM_153717.3(EVC):c.*2132A>G

rs11939264 
NM_153717.3(EVC):c.*2268G>A

rs4261923 
NM_153717.3(EVC):c.*2277G>C

rs28452978 
NM_153717.3(EVC):c.*2285C>G

rs145479436 
NM_153717.3(EVC):c.*2310G>A

rs539844915 
NM_153717.3(EVC):c.*2349T>C

rs886059517 
NM_153717.3(EVC):c.*2361C>T

rs570533057 
NM_153717.3(EVC):c.*2417T>C

rs6848370 
NM_153717.3(EVC):c.*2465C>T

rs555611922 
NM_153717.3(EVC):c.*2490C>T

rs145238482 
NM_153717.3(EVC):c.*2493A>G

rs188345323 
NM_153717.3(EVC):c.*254G>A

rs557237233 
NM_153717.3(EVC):c.*2617G>A

rs3733186 
NM_153717.3(EVC):c.*263T>C

rs575488876 
NM_153717.3(EVC):c.*2680G>A

rs3733187 
NM_153717.3(EVC):c.*2686G>A

rs545215581 
NM_153717.3(EVC):c.*2708G>A

rs79112570 
NM_153717.3(EVC):c.*2713C>T

rs3733188 
NM_153717.3(EVC):c.*274C>G

rs758225073 
NM_153717.3(EVC):c.*2871C>T

rs3733189 
NM_153717.3(EVC):c.*2922A>C

rs886059518 
NM_153717.3(EVC):c.*302G>A

rs560005309 
NM_153717.3(EVC):c.*3161A>C

rs550678702 
NM_153717.3(EVC):c.*3165T>C

rs3755847 
NM_153717.3(EVC):c.*3170T>C

rs886059519 
NM_153717.3(EVC):c.*367C>T

rs886059510 
NM_153717.3(EVC):c.*492G>A

rs530991301 
NM_153717.3(EVC):c.*53T>C

rs7676531 
NM_153717.3(EVC):c.*615C>T

rs73079505 
NM_153717.3(EVC):c.*662G>A

rs866110948 
NM_153717.3(EVC):c.*704_*705insTT

rs886059511 
NM_153717.3(EVC):c.*748T>C

rs62297707 
NM_153717.3(EVC):c.*820C>T

rs137860758 
NM_153717.3(EVC):c.*869A>G

rs79612644 
NM_153717.3(EVC):c.*877C>T

rs886059512 
NM_153717.3(EVC):c.*907C>T

rs71599839 
NM_153717.3(EVC):c.*908G>A

rs13119698 
NM_153717.3(EVC):c.*922G>A

rs71599840 
NM_153717.3(EVC):c.*931T>C

rs6840435 
NM_153717.3(EVC):c.138_137GA[1]

rs886059494 
NM_153717.3(EVC):c.139G>A

rs779841092 
NM_153717.3(EVC):c.35C>A

rs546318095 
NM_153717.3(EVC):c.36G>A

rs577263762 
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)

rs121908425 
NM_153717.3(EVC):c.1026G>C (p.Leu342=)

rs4688962 
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)

rs34947207 
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.104G>A (p.Gly35Asp)

rs1560259105 
NM_153717.3(EVC):c.1050G>C (p.Met350Ile)


NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)

rs1553873969 
NM_153717.3(EVC):c.1059C>T (p.Ala353=)


NM_153717.3(EVC):c.105C>A (p.Gly35=)

rs745558003 
NM_153717.3(EVC):c.1068A>G (p.Leu356=)

rs33929747 
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn)

rs150923920 
NM_153717.3(EVC):c.1096C>T (p.Leu366=)

rs6854138 
NM_153717.3(EVC):c.1101C>T (p.Asp367=)


NM_153717.3(EVC):c.1115C>T (p.Thr372Met)

rs28483498 
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)

rs142535134 
NM_153717.3(EVC):c.1128G>A (p.Ala376=)

rs111234281 
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr)

rs886059505 
NM_153717.3(EVC):c.114C>T (p.Leu38=)


NM_153717.3(EVC):c.1206C>T (p.His402=)


NM_153717.3(EVC):c.1226G>T (p.Gly409Val)


NM_153717.3(EVC):c.1242C>T (p.Ser414=)


NM_153717.3(EVC):c.1258G>A (p.Glu420Lys)

rs373502728 
NM_153717.3(EVC):c.1269G>A (p.Thr423=)


NM_153717.3(EVC):c.1312del (p.Arg438fs)

rs1560340993 
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)

rs373718642 
NM_153717.3(EVC):c.1315+8G>A

rs550411377 
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)

rs60582583 
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)


NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)

rs35953626 
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)

rs116952023 
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)

rs2302075 
NM_153717.3(EVC):c.1350G>A (p.Ala450=)


NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)

rs141859946 
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)

rs571637567 
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)

rs376440801 
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)

rs146232611 
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)

rs764556070 
NM_153717.3(EVC):c.1464+5C>T


NM_153717.3(EVC):c.1464+8A>G

rs116236414 
NM_153717.3(EVC):c.1482G>A (p.Leu494=)


NM_153717.3(EVC):c.1493G>T (p.Arg498Met)


NM_153717.3(EVC):c.1500G>A (p.Met500Ile)

rs149898884 
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)

rs370721640 
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)

rs143971158 
NM_153717.3(EVC):c.1536C>T (p.Ala512=)


NM_153717.3(EVC):c.155del (p.Arg52fs)


NM_153717.3(EVC):c.15646C>T

rs188245524 
NM_153717.3(EVC):c.15647G>A


NM_153717.3(EVC):c.1603G>A (p.Val535Met)

rs753720935 
NM_153717.3(EVC):c.1612C>G (p.Leu538Val)


NM_153717.3(EVC):c.162C>T (p.Arg54=)


NM_153717.3(EVC):c.1636A>G (p.Met546Val)

rs112608085 
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)

rs371682994 
NM_153717.3(EVC):c.1653G>A (p.Pro551=)

rs151293705 
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)

rs764397417 
NM_153717.3(EVC):c.1692C>T (p.Asn564=)


NM_153717.3(EVC):c.1694del (p.Ala565fs)

rs753014919 
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)

rs144943762 
NM_153717.3(EVC):c.1707G>C (p.Leu569=)


NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)


NM_153717.3(EVC):c.1722C>T (p.Arg574=)

rs144637923 
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)

rs1383180 
NM_153717.3(EVC):c.174+7C>T


NM_153717.3(EVC):c.17510C>T


NM_153717.3(EVC):c.1770C>T (p.Asp590=)

rs141755737 
NM_153717.3(EVC):c.1776+7G>A


NM_153717.3(EVC):c.1776+7del


NM_153717.3(EVC):c.17771G>A

rs1262933856 
NM_153717.3(EVC):c.17776G>A

rs565093715 
NM_153717.3(EVC):c.17778G>A


NM_153717.3(EVC):c.17779C>T


NM_153717.3(EVC):c.1797G>A (p.Ala599=)

rs199875230 
NM_153717.3(EVC):c.180C>T (p.Asp60=)


NM_153717.3(EVC):c.1818A>C (p.Thr606=)

rs202093497 
NM_153717.3(EVC):c.1821C>G (p.His607Gln)

rs779056864 
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)

rs41269557 
NM_153717.3(EVC):c.1851C>G (p.Arg617=)

rs967986192 
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)

rs777024713 
NM_153717.3(EVC):c.1854C>A (p.Gly618=)


NM_153717.3(EVC):c.1854C>T (p.Gly618=)

rs11737221 
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)

rs111293777 
NM_153717.3(EVC):c.1878C>T (p.Leu626=)

rs375743004 
NM_153717.3(EVC):c.1886+1G>C


NM_153717.3(EVC):c.1896G>T (p.Arg632=)


NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)

rs35401386 
NM_153717.3(EVC):c.1944G>A (p.Arg648=)


NM_153717.3(EVC):c.1956C>T (p.Arg652=)

rs535012160 
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)

rs149344570 
NM_153717.3(EVC):c.1980G>A (p.Thr660=)


NM_153717.3(EVC):c.1995G>A (p.Ser665=)

rs142897994 
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)


NM_153717.3(EVC):c.2041G>A (p.Glu681Lys)


NM_153717.3(EVC):c.209810T>C


NM_153717.3(EVC):c.2102C>T (p.Ala701Val)

rs571809727 
NM_153717.3(EVC):c.2103G>A (p.Ala701=)


NM_153717.3(EVC):c.2104C>T (p.Arg702Cys)

rs545087909 
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)

rs1553891936 
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)

rs2291157 
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)

rs1446547358 
NM_153717.3(EVC):c.2241G>A (p.Ala747=)

rs142094016 
NM_153717.3(EVC):c.225C>T (p.Thr75=)


NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)

rs201776972 
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp)

rs200479973 
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)

rs2279252 
NM_153717.3(EVC):c.2298C>T (p.Asp766=)

rs140546984 
NM_153717.3(EVC):c.23055C>G

rs760071065 
NM_153717.3(EVC):c.23056C>T

rs781705295 
NM_153717.3(EVC):c.23058T>C

rs1031919 
NM_153717.3(EVC):c.2322G>A (p.Ala774=)


NM_153717.3(EVC):c.2322G>C (p.Ala774=)

rs150373930 
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)


NM_153717.3(EVC):c.2341G>A (p.Val781Met)

rs370514515 
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)

rs149537641 
NM_153717.3(EVC):c.2363G>A (p.Arg788His)

rs73795088 
NM_153717.3(EVC):c.2373G>A (p.Gln791=)

rs73795089 
NM_153717.3(EVC):c.2376G>A (p.Ala792=)


NM_153717.3(EVC):c.2391C>T (p.Ile797=)

rs202236029 
NM_153717.3(EVC):c.2412C>T (p.His804=)


NM_153717.3(EVC):c.2415G>T (p.Glu805Asp)

rs886059506 
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)


NM_153717.3(EVC):c.2449+10C>A

rs758387379 
NM_153717.3(EVC):c.2449+10C>T


NM_153717.3(EVC):c.2449+12C>G

rs751678723 
NM_153717.3(EVC):c.2449+15del

rs398092136 
NM_153717.3(EVC):c.2449+8del

rs886059507 
NM_153717.3(EVC):c.248C>T (p.Ser83Leu)

rs886059495 
NM_153717.3(EVC):c.249A>G (p.Ser83=)

rs35870680 
NM_153717.3(EVC):c.2505G>A (p.Ser835=)

rs115976359 
NM_153717.3(EVC):c.2550G>A (p.Ala850=)


NM_153717.3(EVC):c.25622A>G


NM_153717.3(EVC):c.25623C>T

rs375960614 
NM_153717.3(EVC):c.25623_2584del


NM_153717.3(EVC):c.25624C>A


NM_153717.3(EVC):c.25624C>G

rs60082311 
NM_153717.3(EVC):c.2624A>T (p.His875Leu)


NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)

rs121908424 
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)


NM_153717.3(EVC):c.2712C>T (p.Ser904=)

rs146829332 
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)


NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)

rs370825749 
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu)

rs780968816 
NM_153717.3(EVC):c.2757G>T (p.Leu919=)


NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)


NM_153717.3(EVC):c.2782+9C>T


NM_153717.3(EVC):c.2805G>A (p.Arg935=)


NM_153717.3(EVC):c.284A>G (p.Asp95Gly)

rs41269547 
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)

rs35926225 
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)

rs35287723 
NM_153717.3(EVC):c.2894+13C>T

rs886059508 
NM_153717.3(EVC):c.2894+3A>G

rs1424976594 
NM_153717.3(EVC):c.289510_28959del

rs371125826 
NM_153717.3(EVC):c.28954T>C


NM_153717.3(EVC):c.2930G>A (p.Gly977Glu)

rs749142395 
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)

rs150173231 
NM_153717.3(EVC):c.2961G>A (p.Lys987=)

rs138808610 
NM_153717.3(EVC):c.312G>A (p.Pro104=)


NM_153717.3(EVC):c.339C>T (p.Phe113=)


NM_153717.3(EVC):c.341C>T (p.Ala114Val)

rs16837598 
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)

rs748523193 
NM_153717.3(EVC):c.388C>T (p.Leu130=)

rs886059496 
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)

rs752906200 
NM_153717.3(EVC):c.442T>C (p.Leu148=)

rs139931919 
NM_153717.3(EVC):c.462G>A (p.Glu154=)


NM_153717.3(EVC):c.469C>G (p.Pro157Ala)

rs146729456 
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)

rs150284356 
NM_153717.3(EVC):c.510C>T (p.Asp170=)


NM_153717.3(EVC):c.532G>A (p.Val178Ile)

rs144897690 
NM_153717.3(EVC):c.534C>A (p.Val178=)


NM_153717.3(EVC):c.549C>T (p.Ser183=)

rs201071908 
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)

rs41269549 
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)


NM_153717.3(EVC):c.612C>T (p.Cys204=)

rs553634958 
NM_153717.3(EVC):c.617+1G>A


NM_153717.3(EVC):c.617G>A (p.Ser206Asn)

rs1017946059 
NM_153717.3(EVC):c.677C>T (p.Thr226Met)

rs201583621 
NM_153717.3(EVC):c.717T>A (p.Ile239=)


NM_153717.3(EVC):c.724dup (p.Met242fs)


NM_153717.3(EVC):c.759A>G (p.Ser253=)


NM_153717.3(EVC):c.769C>T (p.Leu257=)

rs6446393 
NM_153717.3(EVC):c.772T>C (p.Tyr258His)

rs6414624 
NM_153717.3(EVC):c.780G>A (p.Lys260=)

rs41269555 
NM_153717.3(EVC):c.80212C>T

rs61514191 
NM_153717.3(EVC):c.80215C>T

rs4689313 
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)


NM_153717.3(EVC):c.867T>G (p.Gly289=)


NM_153717.3(EVC):c.873dup (p.Glu292Ter)

rs527255616 
NM_153717.3(EVC):c.882C>T (p.Ile294=)


NM_153717.3(EVC):c.899A>C (p.Glu300Ala)

rs149529742 
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)

rs886044558 
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)

rs756852655 
NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del)

rs755381180 
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)

rs372548610 
NM_153717.3(EVC):c.928C>G (p.Leu310Val)

rs145300726 
NM_153717.3(EVC):c.933C>T (p.Ile311=)


NM_153717.3(EVC):c.934G>A (p.Asp312Asn)

rs115275195 
NM_153717.3(EVC):c.939+10A>G

rs2286342 
NM_153717.3(EVC):c.939+11G>T

rs55955937 
NM_153717.3(EVC):c.939+4C>T

rs2286343 
NM_153717.3(EVC):c.939+9C>T

rs201282320 
NM_153717.3(EVC):c.969T>C (p.Asn323=)

rs4688963 
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)

rs199916502 