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

rs113728951 
NM_153717.3(EVC):c.*1248T>G

rs559890176 
NM_153717.3(EVC):c.*1374G>C

rs549720489 
NM_153717.3(EVC):c.*1428C>G

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

rs188270163 
NM_153717.3(EVC):c.*1512T>C

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

rs545639856 
NM_153717.3(EVC):c.*1592C>T

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

rs371788560 
NM_153717.3(EVC):c.*1700C>T

rs74690944 
NM_153717.3(EVC):c.*1871C>T

rs150764469 
NM_153717.3(EVC):c.*198G>A

rs181401771 
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.*2277G>C

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

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

rs539844915 
NM_153717.3(EVC):c.*2361C>T

rs570533057 
NM_153717.3(EVC):c.*2465C>T

rs555611922 
NM_153717.3(EVC):c.*2493A>G

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

rs557237233 
NM_153717.3(EVC):c.*2686G>A

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

rs79112570 
NM_153717.3(EVC):c.*302G>A

rs560005309 
NM_153717.3(EVC):c.*492G>A

rs530991301 
NM_153717.3(EVC):c.*615C>T

rs73079505 
NM_153717.3(EVC):c.*922G>A

rs71599840 
NM_153717.3(EVC):c.35C>A

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

rs577263762 
NM_153717.3(EVC):c.36_35delinsAA

rs1064796174 
NM_153717.3(EVC):c.100C>T (p.Leu34=)


NM_153717.3(EVC):c.1018C>A (p.Arg340=)

rs121908425 
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.1059C>T (p.Ala353=)


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

rs745558003 
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn)

rs150923920 
NM_153717.3(EVC):c.1101C>T (p.Asp367=)


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.1149G>A (p.Glu383=)


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


NM_153717.3(EVC):c.1159C>T (p.Leu387=)


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


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


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

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

rs550411377 
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)

rs116952023 
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.1462G>A (p.Glu488Lys)

rs146232611 
NM_153717.3(EVC):c.1464+20T>C

rs886038740 
NM_153717.3(EVC):c.1464+5C>T


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


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

rs149898884 
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)

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


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

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


NM_153717.3(EVC):c.1602C>T (p.Phe534=)


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


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

rs112608085 
NM_153717.3(EVC):c.1653G>A (p.Pro551=)

rs151293705 
NM_153717.3(EVC):c.1692C>T (p.Asn564=)


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

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


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

rs144637923 
NM_153717.3(EVC):c.174+7C>T


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


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


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


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


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


NM_153717.3(EVC):c.1791G>A (p.Glu597=)


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.1854C>A (p.Gly618=)


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.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.2041G>A (p.Glu681Lys)


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


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


NM_153717.3(EVC):c.219G>A (p.Ala73=)


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

rs142094016 
NM_153717.3(EVC):c.2250G>A (p.Val750=)


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


NM_153717.3(EVC):c.2274G>A (p.Lys758=)


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.230558G>A


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

rs781705295 
NM_153717.3(EVC):c.231G>A (p.Ser77=)


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


NM_153717.3(EVC):c.2331G>A (p.Glu777=)


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.2412C>T (p.His804=)


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.2454G>A (p.Glu818=)


NM_153717.3(EVC):c.2457G>A (p.Arg819=)


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

rs115976359 
NM_153717.3(EVC):c.2520G>A (p.Thr840=)


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


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

rs375960614 
NM_153717.3(EVC):c.25624C>A


NM_153717.3(EVC):c.25625C>A


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


NM_153717.3(EVC):c.2649C>T (p.Val883=)


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

rs146829332 
NM_153717.3(EVC):c.2733A>C (p.Arg911=)


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


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.289510_28959del

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


NM_153717.3(EVC):c.2913G>A (p.Gln971=)


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

rs749142395 
NM_153717.3(EVC):c.2961G>A (p.Lys987=)

rs138808610 
NM_153717.3(EVC):c.3015C>T


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


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


NM_153717.3(EVC):c.42G>A (p.Leu14=)


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

rs139931919 
NM_153717.3(EVC):c.450C>T (p.His150=)


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.57C>T (p.Asp19=)


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


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

rs553634958 
NM_153717.3(EVC):c.677C>T (p.Thr226Met)

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


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


NM_153717.3(EVC):c.801+13C>T

rs545838582 
NM_153717.3(EVC):c.80212_8028del


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


NM_153717.3(EVC):c.873T>A (p.Ser291=)


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


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

rs149529742 
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)

rs756852655 
NM_153717.3(EVC):c.930A>G (p.Leu310=)

rs776792609 
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+50G>A


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

rs201282320 
NM_153717.3(EVC):c.939+9_939+10inv


NM_153717.3(EVC):c.945A>G (p.Glu315=)

rs1057523442 
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)

rs199916502 