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

rs6446393

0.95639

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

rs1031919

0.72106

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

rs6414624

0.72068

NM_153717.3(EVC):c.2894+18A>G

rs2279250

0.71871

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

rs2286342

0.67122

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

rs4689313

0.60798

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

rs4688962

0.52761

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

rs4688963

0.40746

NM_153717.3(EVC):c.109919T>C

rs899691

0.37351

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

rs2286343

0.33466

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

rs33929747

0.26691

NM_153717.3(EVC):c.80215del

rs369153323

0.10885

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

rs35870680

0.09998

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

rs2291157

0.07908

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

rs35953626

0.07232

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

rs28483498

0.06438

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

rs16837598

0.05943

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

rs6854138

0.03243

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

rs55955937

0.02788

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

rs2279252

0.01416

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

rs116236414

0.01163

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

rs73795089

0.01161

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

rs73795088

0.01159

NM_153717.3(EVC):c.38516C>T

rs113571700

0.00995

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

rs35287723

0.00977

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

rs115976359

0.00969

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

rs60582583

0.00733

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

rs41269555

0.00676

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

rs41269547

0.00561

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

rs146729456

0.00451

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

rs111293777

0.00354

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

rs142535134

0.00309

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

rs144897690

0.00243

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

rs112608085

0.00209

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

rs201282320

0.00205

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

rs41269557

0.00201

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.1369G>A (p.Glu457Lys)

rs141859946

0.00188

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

rs149344570

0.00177

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

rs115275195

0.00171

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

rs149898884

0.00163

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

rs116952023

0.00150

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.89C>T (p.Pro30Leu)

rs886044558

0.00121

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

rs369734950

0.00120

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

rs143678893

0.00093

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

rs147772724

0.00085

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

rs375960614

0.00084

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

rs141755737

0.00079

NM_153717.3(EVC):c.80215_80212del

rs386671011

0.00069

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

rs150373930

0.00067

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

rs751678723

0.00066

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

rs111234281

0.00055

NM_153717.3(EVC):c.569G>T (p.Arg190Leu)

rs113002470

0.00051

NM_153717.3(EVC):c.17518C>G

rs114621329

0.00047

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

rs151293705

0.00044

NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)

rs141896077

0.00042

NM_153717.3(EVC):c.1892C>T (p.Thr631Met)

rs139481521

0.00041

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

rs142897994

0.00038

NM_153717.3(EVC):c.2782+15C>G

rs373862588

0.00037

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

rs143631233

0.00037

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

rs202150959

0.00036

NM_153717.3(EVC):c.1886+5G>T

rs794726665

0.00036

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

rs146829332

0.00034

NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)

rs373726507

0.00033

NM_153717.3(EVC):c.1928G>A (p.Arg643His)

rs144906677

0.00029

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

rs61514191

0.00027

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

rs199875230

0.00026

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

rs201776972

0.00025

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

rs149537641

0.00024

NM_153717.3(EVC):c.2519C>T (p.Thr840Met)

rs143464806

0.00024

NM_153717.3(EVC):c.174+16A>G

rs1049950431

0.00023

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

rs139931919

0.00022

NM_153717.3(EVC):c.617+17A>G

rs113726930

0.00019

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

rs368554773

0.00016

NM_153717.3(EVC):c.702+16C>T

rs180960931

0.00016

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

rs745558003

0.00015

NM_153717.3(EVC):c.1777G>A (p.Val593Met)

rs150535483

0.00014

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

rs202093497

0.00014

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

rs774109576

0.00014

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

rs142094016

0.00014

NM_153717.3(EVC):c.2768A>C (p.Lys923Thr)

rs748268896

0.00014

NM_153717.3(EVC):c.702+17G>T

rs559719173

0.00014

NM_153717.3(EVC):c.94012C>G

rs200707006

0.00014

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

rs370721640

0.00013

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

rs113406354

0.00013

NM_153717.3(EVC):c.2449+4C>T

rs753679138

0.00013

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

rs753014919

0.00012

NM_153717.3(EVC):c.2583G>A (p.Arg861=)

rs145317746

0.00012

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

rs575586341

0.00011

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

rs140546984

0.00011

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

rs370514515

0.00011

NM_153717.3(EVC):c.299A>G (p.Asp100Gly)

rs1282571678

0.00011

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

rs150284356

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_153717.3(EVC):c.1102G>A (p.Ala368Thr)

rs145645536

0.00010

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

rs201583621

0.00010

NM_153717.3(EVC):c.1744C>G (p.Leu582Val)

rs367863826

0.00009

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

rs200479973

0.00009

NM_153717.3(EVC):c.2392G>A (p.Gly798Arg)

rs142738089

0.00009

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

rs780968816

0.00009

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

rs201105095

0.00009

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

rs149529742

0.00009

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

rs188245524

0.00008

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

rs571809727

0.00008

NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)

rs752020764

0.00008

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

rs775049818

0.00008

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

rs201877358

0.00007

NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)

rs540660500

0.00007

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

rs769206763

0.00006

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

rs752575646

0.00006

NM_153717.3(EVC):c.15648C>T

rs373957181

0.00006

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

rs138242443

0.00006

NM_153717.3(EVC):c.1807G>A (p.Val603Met)

rs886042994

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.940150T>C

rs576076928

0.00006

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.1865G>A (p.Arg622Gln)

rs767013073

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_153717.3(EVC):c.1075G>A (p.Asp359Asn)

rs150923920

0.00004

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

rs551881521

0.00004

NM_153717.3(EVC):c.1825C>T (p.Arg609Trp)

rs748220728

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.23056C>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.455C>T (p.Pro152Leu)

rs371671127

0.00004

NM_153717.3(EVC):c.580C>T (p.Arg194Trp)

rs757990300

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_153717.3(EVC):c.1018C>T (p.Arg340Ter)

rs121908425

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.1574T>G (p.Phe525Cys)

rs771560788

0.00003

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

rs371682994

0.00003

NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)

rs765269619

0.00003

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

rs144637923

0.00003

NM_153717.3(EVC):c.1752A>G

rs767186464

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_153717.3(EVC):c.2731C>T (p.Arg911Ter)

rs767400887

0.00003

NM_153717.3(EVC):c.461A>G (p.Glu154Gly)

rs1386247667

0.00003

NM_153717.3(EVC):c.625G>A (p.Val209Ile)

rs202026284

0.00003

NM_153717.3(EVC):c.771A>G (p.Leu257=)

rs756340487

0.00003

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

rs372548610

0.00003

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.1303C>T (p.Arg435Cys)

rs756430334

0.00002

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

rs373718642

0.00002

NM_153717.3(EVC):c.1389G>A (p.Thr463=)

rs765596595

0.00002

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

rs376440801

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.187C>G (p.Gln63Glu)

rs371329240

0.00002

NM_153717.3(EVC):c.188A>G (p.Gln63Arg)

rs772017175

0.00002

NM_153717.3(EVC):c.20984C>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.2516G>A (p.Arg839Lys)

rs745451709

0.00002

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

rs1293098417

0.00002

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

rs121908424

0.00002

NM_153717.3(EVC):c.2770C>T (p.Arg924Cys)

rs772327981

0.00002

NM_153717.3(EVC):c.2782+1G>T

rs1007534611

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.409C>A (p.Pro137Thr)

rs752906200

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.626T>C (p.Val209Ala)

rs1230866971

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_153717.3(EVC):c.100C>T (p.Leu34=)

rs1577297567

0.00001

NM_153717.3(EVC):c.1021C>T (p.Gln341Ter)

rs1729663828

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.1247G>A (p.Arg416Gln)

rs745640537

0.00001

NM_153717.3(EVC):c.1283C>T (p.Ala428Val)

rs1409088904

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.131610T>A

rs1730755993

0.00001

NM_153717.3(EVC):c.1323C>T (p.Val441=)

rs201393812

0.00001

NM_153717.3(EVC):c.1324C>T (p.Gln442Ter)

rs753152908

0.00001

NM_153717.3(EVC):c.136C>T (p.Leu46Phe)

rs1246844384

0.00001

NM_153717.3(EVC):c.1387dup (p.Thr463fs)

rs1317662938

0.00001

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

rs571637567

0.00001

NM_153717.3(EVC):c.1461C>T (p.Leu487=)

rs1414243707

0.00001

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

rs146232611

0.00001

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

rs764556070

0.00001

NM_153717.3(EVC):c.1479C>G (p.Val493=)

rs751325286

0.00001

NM_153717.3(EVC):c.1489C>T (p.Gln497Ter)

rs1460597472

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.15647G>A

rs201739032

0.00001

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

rs766294209

0.00001

NM_153717.3(EVC):c.1638G>T (p.Met546Ile)

rs1225766769

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.1693G>A (p.Ala565Thr)

rs926749491

0.00001

NM_153717.3(EVC):c.1698C>T (p.Ala566=)

rs911132556

0.00001

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

rs1373148885

0.00001

NM_153717.3(EVC):c.1759G>A

rs753317536

0.00001

NM_153717.3(EVC):c.1764G>A (p.Glu588=)

rs1736003433

0.00001

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

rs1262933856

0.00001

NM_153717.3(EVC):c.17772A>G

rs909612975

0.00001

NM_153717.3(EVC):c.17778G>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.1868T>C (p.Leu623Pro)

rs1373632260

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.1955G>A (p.Arg652His)

rs765024763

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.2014C>T (p.Gln672Ter)

rs774949132

0.00001

NM_153717.3(EVC):c.2026G>A (p.Glu676Lys)

rs367968708

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.2078G>A (p.Trp693Ter)

rs1714132239

0.00001

NM_153717.3(EVC):c.2088C>T (p.Leu696=)

rs761661473

0.00001

NM_153717.3(EVC):c.20981G>A

rs773019082

0.00001

NM_153717.3(EVC):c.20985C>T

rs747808287

0.00001

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

rs766383397

0.00001

NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)

rs765248751

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.2236C>T (p.Gln746Ter)

rs1446547358

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.2446C>T (p.Gln816Ter)

rs374752679

0.00001

NM_153717.3(EVC):c.24507G>T

rs769527486

0.00001

NM_153717.3(EVC):c.2500C>T (p.Pro834Ser)

rs1395596111

0.00001

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

rs187406722

0.00001

NM_153717.3(EVC):c.25625C>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.2732G>A (p.Arg911Gln)

rs930402783

0.00001

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

rs370825749

0.00001

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

rs771505230

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.278318T>G

rs544186339

0.00001

NM_153717.3(EVC):c.27838C>T

rs905232607

0.00001

NM_153717.3(EVC):c.2790C>T (p.Pro930=)

rs747237758

0.00001

NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)

rs896581899

0.00001

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

rs1424976594

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.30113C>T

rs1478477072

0.00001

NM_153717.3(EVC):c.3015C>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.340G>A (p.Ala114Thr)

rs756208272

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.38510G>A

rs766423757

0.00001

NM_153717.3(EVC):c.3855C>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.49G>A (p.Gly17Arg)

rs1722991667

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.568C>T (p.Arg190Cys)

rs1286815295

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.617G>A (p.Ser206Asn)

rs1017946059

0.00001

NM_153717.3(EVC):c.624C>T (p.Asp208=)

rs187457187

0.00001

NM_153717.3(EVC):c.773dup (p.Tyr258Ter)

rs748201094

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.853A>G (p.Met285Val)

rs1464387798

0.00001

NM_153717.3(EVC):c.858G>A (p.Ser286=)

rs752988350

0.00001

NM_153717.3(EVC):c.86C>T (p.Ala29Val)

rs1314509668

0.00001

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

rs527255616

0.00001

NM_153717.3(EVC):c.876G>A (p.Glu292=)

rs902304992

0.00001

NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)

rs1252316234

0.00001

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

rs375414448

0.00001

NM_153717.3(EVC):c.884C>G (p.Thr295Ser)

rs754532508

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.918C>A (p.Tyr306Ter)

rs1560323242

0.00001

NM_153717.3(EVC):c.919T>C (p.Ser307Pro)

rs121908426

0.00001

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

rs145300726

0.00001

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

rs776792609

0.00001

NM_153717.3(EVC):c.9409A>C

rs1241925243

0.00001

NM_153717.3(EVC):c.99G>A (p.Leu33=)

rs1723007488

0.00001

NC_000004.11:g.(?_5711924)_(5817031_?)del



NC_000004.11:g.(?_5713108)_(5714221_?)del



NC_000004.11:g.(?_5720955)_(5721120_?)del



NC_000004.11:g.(?_5733142)_(5735172_?)del



NC_000004.11:g.(?_5749725)_(5755670_?)del



NC_000004.11:g.(?_5754553)_(5755670_?)del



NC_000004.11:g.(?_5754553)_(5758099_?)del



NC_000004.11:g.(?_5754553)_(5785501_?)del



NC_000004.11:g.(?_5785269)_(5803831_?)dup



NC_000004.11:g.(?_5785269)_(5812774_?)del



NC_000004.11:g.(?_5798739)_(5798969_?)del



NC_000004.11:g.(?_5803667)_(5806578_?)del



NC_000004.11:g.(?_5809918)_(5811348_?)del



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



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



NC_000004.12:g.5719249_5719252del



NC_000004.12:g.5729307del



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.1031T>C (p.Met344Thr)



NM_153717.3(EVC):c.1035T>C (p.Thr345=)

rs2152045460


NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)

rs767913372


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.1047_1048del (p.Arg349fs)

rs745627738


NM_153717.3(EVC):c.104G>A (p.Gly35Asp)

rs1560259105


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

rs1729670311


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

rs1553873969


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



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

rs745558003


NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)



NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)

rs779915989


NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)



NM_153717.3(EVC):c.1086del (p.Glu362fs)



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+1G>A



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.109910C>A

rs1465530933


NM_153717.3(EVC):c.109914G>A



NM_153717.3(EVC):c.10991G>A



NM_153717.3(EVC):c.109920C>T



NM_153717.3(EVC):c.109921_109919delinsGTC

rs2152075906


NM_153717.3(EVC):c.109921_109920delinsGT



NM_153717.3(EVC):c.10992A>C



NM_153717.3(EVC):c.10994G>A

rs2152076013


NM_153717.3(EVC):c.10995T>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.1114del (p.Thr372fs)



NM_153717.3(EVC):c.1116G>A (p.Thr372=)

rs781636545


NM_153717.3(EVC):c.1119G>A (p.Met373Ile)

rs1397539769


NM_153717.3(EVC):c.1122dup (p.Arg375fs)



NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)



NM_153717.3(EVC):c.1136_1563+515del



NM_153717.3(EVC):c.1141G>A (p.Val381Met)

rs2152076238


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.114CGGCCT[1] (p.39GL[1])

rs1164121689


NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])

rs1164121689


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

rs1577439719


NM_153717.3(EVC):c.1161G>T (p.Leu387=)



NM_153717.3(EVC):c.1168C>T (p.Gln390Ter)

rs1560340266


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.1186C>G (p.Arg396Gly)



NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)



NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)



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.1207G>A (p.Gly403Ser)



NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)



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.1226G>T (p.Gly409Val)

rs1577440027


NM_153717.3(EVC):c.1228G>T (p.Glu410Ter)

rs2152076522


NM_153717.3(EVC):c.1230G>A (p.Glu410=)



NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)



NM_153717.3(EVC):c.1233dup (p.Lys412fs)



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.1257_1259delinsAGTT (p.Glu420fs)

rs1730623318


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.1268C>T (p.Thr423Met)



NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)



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.1290_1291delinsAA (p.Trp430_Gln431delinsTer)

rs2152076745


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.1312C>T (p.Arg438Trp)



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

rs1560340993


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.131614T>C



NM_153717.3(EVC):c.131620G>A



NM_153717.3(EVC):c.131620G>T



NM_153717.3(EVC):c.13164C>T



NM_153717.3(EVC):c.1327C>A (p.Arg443=)



NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)

rs1730760070


NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)



NM_153717.3(EVC):c.1344C>T (p.Val448=)

rs2152081344


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

rs2302075


NM_153717.3(EVC):c.1347G>A (p.Thr449=)



NM_153717.3(EVC):c.1373del (p.Gly458fs)

rs760607210


NM_153717.3(EVC):c.1379C>T (p.Ala460Val)

rs1309149029


NM_153717.3(EVC):c.1383A>G (p.Lys461=)



NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)



NM_153717.3(EVC):c.1398A>G (p.Gln466=)



NM_153717.3(EVC):c.1404G>A (p.Glu468=)



NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs)

rs1553876034


NM_153717.3(EVC):c.1407A>G (p.Glu469=)

rs755691949


NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)



NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)



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.1441G>C (p.Ala481Pro)



NM_153717.3(EVC):c.1449G>A (p.Pro483=)



NM_153717.3(EVC):c.1452A>G (p.Glu484=)



NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)



NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)



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.146512T>G



NM_153717.3(EVC):c.146513G>A



NM_153717.3(EVC):c.146515_146514del



NM_153717.3(EVC):c.146515_146514dup



NM_153717.3(EVC):c.146518C>T



NM_153717.3(EVC):c.14654A>G



NM_153717.3(EVC):c.14655C>A



NM_153717.3(EVC):c.14657C>T



NM_153717.3(EVC):c.14658C>T



NM_153717.3(EVC):c.14659T>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.1481T>C (p.Leu494Pro)



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



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

rs1577453796


NM_153717.3(EVC):c.1494del (p.Arg498fs)

rs2152094799


NM_153717.3(EVC):c.1495C>G (p.Leu499Val)



NM_153717.3(EVC):c.1501C>T (p.Gln501Ter)

rs373088008


NM_153717.3(EVC):c.150G>C (p.Ala50=)

rs1257185745


NM_153717.3(EVC):c.1512G>A (p.Leu504=)



NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)



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.1528G>C (p.Val510Leu)

rs143971158


NM_153717.3(EVC):c.1531A>C (p.Arg511=)

rs2152094988


NM_153717.3(EVC):c.1539del (p.Glu514fs)

rs759106605


NM_153717.3(EVC):c.153_174+42del

rs1723019796


NM_153717.3(EVC):c.154C>T (p.Arg52Cys)



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

rs1439712140


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.156410T>G



NM_153717.3(EVC):c.156415G>T



NM_153717.3(EVC):c.156419C>G



NM_153717.3(EVC):c.15647G>C



NM_153717.3(EVC):c.15647G>T



NM_153717.3(EVC):c.15649C>T

rs1361893356


NM_153717.3(EVC):c.1569G>C (p.Leu523=)



NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)



NM_153717.3(EVC):c.1572C>T (p.Tyr524=)

rs1735952327


NM_153717.3(EVC):c.1578C>T (p.Ser526=)



NM_153717.3(EVC):c.157C>T (p.Gln53Ter)



NM_153717.3(EVC):c.1593C>T (p.Phe531=)

rs771775185


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

rs753720935


NM_153717.3(EVC):c.1605G>A (p.Val535=)



NM_153717.3(EVC):c.1607A>T (p.Asp536Val)



NM_153717.3(EVC):c.1611C>T (p.Ala537=)

rs765193502


NM_153717.3(EVC):c.1612C>T (p.Leu538=)



NM_153717.3(EVC):c.1618del (p.Leu540fs)



NM_153717.3(EVC):c.1623G>A (p.Gln541=)

rs2152288778


NM_153717.3(EVC):c.1623G>T (p.Gln541His)



NM_153717.3(EVC):c.1625C>T (p.Thr542Met)



NM_153717.3(EVC):c.1626G>A (p.Thr542=)



NM_153717.3(EVC):c.1629C>G (p.Leu543=)

rs1735963741


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

rs1305323625


NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)



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.1648C>G (p.Pro550Ala)



NM_153717.3(EVC):c.1650C>A (p.Pro550=)

rs1187336928


NM_153717.3(EVC):c.1652C>G (p.Pro551Arg)

rs371682994


NM_153717.3(EVC):c.1652del (p.Pro551fs)

rs1312383000


NM_153717.3(EVC):c.1652dup (p.Glu552fs)



NM_153717.3(EVC):c.1656A>G (p.Glu552=)



NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)



NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)



NM_153717.3(EVC):c.1662T>C (p.Cys554=)

rs2152288989


NM_153717.3(EVC):c.1665C>T (p.Asp555=)



NM_153717.3(EVC):c.1673G>T (p.Arg558Met)



NM_153717.3(EVC):c.1677G>A (p.Gln559=)



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

rs764397417


NM_153717.3(EVC):c.1683C>A (p.Val561=)



NM_153717.3(EVC):c.1683C>G (p.Val561=)

rs913909906


NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)

rs751772225


NM_153717.3(EVC):c.1687G>A (p.Glu563Lys)

rs539010490


NM_153717.3(EVC):c.1687G>T (p.Glu563Ter)

rs539010490


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.1720C>G (p.Arg574Gly)

rs141820870


NM_153717.3(EVC):c.1725C>T (p.Phe575=)



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

rs1383180


NM_153717.3(EVC):c.1727G>T (p.Arg576Leu)

rs1383180


NM_153717.3(EVC):c.1737G>A (p.Gln579=)

rs768788576


NM_153717.3(EVC):c.1737G>T (p.Gln579His)



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+1G>T

rs2151768710


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.1746_1747del (p.Phe583fs)

rs2152289369


NM_153717.3(EVC):c.17519C>G



NM_153717.3(EVC):c.17519C>T



NM_153717.3(EVC):c.17520T>C



NM_153717.3(EVC):c.1759G>C

rs753317536


NM_153717.3(EVC):c.1750del (p.Gln584fs)

rs1736000365


NM_153717.3(EVC):c.1750dup (p.Gln584fs)



NM_153717.3(EVC):c.1761A>C (p.Leu587=)



NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)

rs1736003818


NM_153717.3(EVC):c.1776+2T>C



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.177713G>C



NM_153717.3(EVC):c.177715C>G



NM_153717.3(EVC):c.177717C>G



NM_153717.3(EVC):c.177719C>T



NM_153717.3(EVC):c.17772A>C



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

rs565093715


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



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

rs113468936


NM_153717.3(EVC):c.1779G>A (p.Val593=)



NM_153717.3(EVC):c.1783_1886+40del

rs2152326431


NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)



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.1802C>T (p.Ser601Phe)

rs1713205522


NM_153717.3(EVC):c.1803C>T (p.Ser601=)

rs2152326514


NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)



NM_153717.3(EVC):c.1812G>A (p.Leu604=)



NM_153717.3(EVC):c.1818_1821del (p.His607fs)

rs2152326544


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.1844C>A (p.Thr615Asn)



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.1854C>T (p.Gly618=)

rs11737221


NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)



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.1864C>T (p.Arg622Ter)

rs1329006994


NM_153717.3(EVC):c.186_187del (p.Gln63fs)



NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs)

rs2152326770


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+1G>C

rs753679094


NM_153717.3(EVC):c.1886+2T>G

rs1713228964


NM_153717.3(EVC):c.1886+5G>A

rs794726665


NM_153717.3(EVC):c.1886+7A>G

rs2152326793


NM_153717.3(EVC):c.188719T>G



NM_153717.3(EVC):c.18872A>T



NM_153717.3(EVC):c.18874A>C

rs2152340153


NM_153717.3(EVC):c.18875C>T



NM_153717.3(EVC):c.18875_1904del

rs779275317


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.1894C>T (p.Arg632Trp)



NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)



NM_153717.3(EVC):c.1895G>C (p.Arg632Pro)

rs535632933


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

rs758327867


NM_153717.3(EVC):c.1900del (p.Val634fs)



NM_153717.3(EVC):c.1905G>T (p.Leu635=)

rs777640312


NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)

rs757227773


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.1939C>T (p.Arg647Trp)



NM_153717.3(EVC):c.193C>A (p.Leu65Met)



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

rs35401386


NM_153717.3(EVC):c.1940G>C (p.Arg647Pro)

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.1949C>T (p.Ala650Val)



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.1971del (p.Thr658fs)

rs2152340509


NM_153717.3(EVC):c.1972A>T (p.Thr658Ser)

rs1577616840


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.2009T>A (p.Leu670His)



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.2029C>T (p.Gln677Ter)



NM_153717.3(EVC):c.203del (p.Asn68fs)

rs1560274093


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.2068G>A (p.Glu690Lys)



NM_153717.3(EVC):c.2076G>A (p.Gln692=)

rs1714131544


NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)



NM_153717.3(EVC):c.207G>A (p.Leu69=)

rs2151841946


NM_153717.3(EVC):c.2085G>C (p.Leu695=)



NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)



NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)



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.2096T>C (p.Leu699Pro)

rs2152340934


NM_153717.3(EVC):c.2097+10G>T



NM_153717.3(EVC):c.2097+12A>G

rs112766640


NM_153717.3(EVC):c.2097+1G>A



NM_153717.3(EVC):c.2097+1G>T

rs1553891368


NM_153717.3(EVC):c.2097+2del

rs2152340942


NM_153717.3(EVC):c.209813C>G



NM_153717.3(EVC):c.209820C>T



NM_153717.3(EVC):c.20982A>G

rs1714398710


NM_153717.3(EVC):c.20985C>G

rs747808287


NM_153717.3(EVC):c.20987C>G

rs1448028337


NM_153717.3(EVC):c.20988C>T

rs1560427583


NM_153717.3(EVC):c.2104C>G (p.Arg702Gly)

rs545087909


NM_153717.3(EVC):c.2105G>A (p.Arg702His)



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.2126_2129dup (p.Glu711fs)



NM_153717.3(EVC):c.2127G>A (p.Arg709=)



NM_153717.3(EVC):c.2131G>C (p.Glu711Gln)

rs1430134537


NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)



NM_153717.3(EVC):c.213T>C (p.Ser71=)



NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs)

rs2152345583


NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)

rs1714412021


NM_153717.3(EVC):c.2152C>A (p.Arg718=)

rs778287269


NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)



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.2164C>T (p.Gln722Ter)

rs1553891936


NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)



NM_153717.3(EVC):c.2187C>A (p.Ala729=)



NM_153717.3(EVC):c.218C>T (p.Ala73Val)

rs1361442490


NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)



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.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.2227G>A (p.Ala743Thr)



NM_153717.3(EVC):c.222G>A (p.Gln74=)



NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)



NM_153717.3(EVC):c.2238G>A (p.Gln746=)



NM_153717.3(EVC):c.2240C>T (p.Ala747Val)



NM_153717.3(EVC):c.2247G>A (p.Leu749=)



NM_153717.3(EVC):c.2256A>G (p.Ala752=)

rs746682279


NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)



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.226C>G (p.Pro76Ala)



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.2274G>C (p.Lys758Asn)



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+2T>C

rs1553892090


NM_153717.3(EVC):c.2304+8C>G



NM_153717.3(EVC):c.2304+9T>A

rs2152346132


NM_153717.3(EVC):c.230513T>C



NM_153717.3(EVC):c.230515C>T



NM_153717.3(EVC):c.230517T>C



NM_153717.3(EVC):c.230519C>A



NM_153717.3(EVC):c.230519C>T



NM_153717.3(EVC):c.23058_23057delinsCT

rs2152361700


NM_153717.3(EVC):c.2307G>A (p.Arg769=)



NM_153717.3(EVC):c.230C>T (p.Ser77Leu)



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.2321C>T (p.Ala774Val)



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.2339A>C (p.Tyr780Ser)

rs773252806


NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)



NM_153717.3(EVC):c.2340C>T (p.Tyr780=)



NM_153717.3(EVC):c.2346C>T (p.Thr782=)



NM_153717.3(EVC):c.2350G>T (p.Ala784Ser)

rs149537641


NM_153717.3(EVC):c.235A>G (p.Thr79Ala)



NM_153717.3(EVC):c.2361C>T (p.Ser787=)

rs1412709981


NM_153717.3(EVC):c.2365del (p.Leu789fs)



NM_153717.3(EVC):c.2367G>A (p.Leu789=)



NM_153717.3(EVC):c.2368G>A (p.Val790Met)



NM_153717.3(EVC):c.2370G>A (p.Val790=)



NM_153717.3(EVC):c.2375C>T (p.Ala792Val)



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

rs1005244629


NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)



NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)



NM_153717.3(EVC):c.2388A>G (p.Gln796=)



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

rs202236029


NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)



NM_153717.3(EVC):c.2409C>T (p.Asp803=)



NM_153717.3(EVC):c.241dup (p.Ser81fs)



NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)



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+15del

rs398092136


NM_153717.3(EVC):c.2449+15dup

rs398092136


NM_153717.3(EVC):c.2449+16del



NM_153717.3(EVC):c.2449+1G>A

rs1553893423


NM_153717.3(EVC):c.2449+2T>C



NM_153717.3(EVC):c.2449+5G>A



NM_153717.3(EVC):c.2449+9C>A



NM_153717.3(EVC):c.245016G>A



NM_153717.3(EVC):c.245018C>T



NM_153717.3(EVC):c.24504C>T

rs1273594861


NM_153717.3(EVC):c.24507_24505dup

rs2152375058


NM_153717.3(EVC):c.24508T>C

rs1715583083


NM_153717.3(EVC):c.2454G>A (p.Glu818=)

rs775144960


NM_153717.3(EVC):c.2457del (p.Met820fs)

rs794726666


NM_153717.3(EVC):c.2463A>G (p.Glu821=)

rs762865760


NM_153717.3(EVC):c.2472dup (p.Leu825fs)



NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)



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.2488G>T (p.Glu830Ter)

rs2152375194


NM_153717.3(EVC):c.248C>G (p.Ser83Ter)



NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)



NM_153717.3(EVC):c.2499C>T (p.Asn833=)

rs2152375210


NM_153717.3(EVC):c.2508G>A (p.Ser836=)



NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)



NM_153717.3(EVC):c.2514C>T (p.Ser838=)



NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)



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

rs187406722


NM_153717.3(EVC):c.2523A>C (p.Ala841=)



NM_153717.3(EVC):c.2524G>A (p.Gly842Ser)

rs1446692986


NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)



NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)



NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)



NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)

rs561852174


NM_153717.3(EVC):c.2547G>A (p.Gln849=)

rs2152375378


NM_153717.3(EVC):c.2549C>T (p.Ala850Val)



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+1dup

rs2152375437


NM_153717.3(EVC):c.2561+8C>T



NM_153717.3(EVC):c.256213_256212delinsCC

rs2152387572


NM_153717.3(EVC):c.256218del



NM_153717.3(EVC):c.256219C>G



NM_153717.3(EVC):c.256220G>T



NM_153717.3(EVC):c.25623_2584del

rs1577663625


NM_153717.3(EVC):c.25623del



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

rs60082311


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

rs60082311


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

rs60082311


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

rs747812027


NM_153717.3(EVC):c.25626C>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.2580G>C (p.Lys860Asn)



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.2617C>T (p.Arg873Cys)



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.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer)

rs2152387847


NM_153717.3(EVC):c.2637G>A (p.Gln879=)



NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)



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.2662G>T (p.Glu888Ter)



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.2677_2688+7del

rs2152387946


NM_153717.3(EVC):c.267_274del (p.Glu89fs)

rs2151842413


NM_153717.3(EVC):c.2685A>G (p.Leu895=)

rs2152387981


NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)



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+1G>C

rs1553895776


NM_153717.3(EVC):c.2688+2T>G



NM_153717.3(EVC):c.2688+8_2688+13del

rs2152388021


NM_153717.3(EVC):c.268911_26898del



NM_153717.3(EVC):c.268916T>C



NM_153717.3(EVC):c.268919C>T



NM_153717.3(EVC):c.268920C>A



NM_153717.3(EVC):c.26898C>G



NM_153717.3(EVC):c.2698C>T (p.Gln900Ter)

rs1039706882


NM_153717.3(EVC):c.2705del (p.Phe902fs)

rs2152391901


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.2714A>G (p.Glu905Gly)



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.2743G>C (p.Ala915Pro)



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+1del

rs1169539647


NM_153717.3(EVC):c.2782+7C>A

rs1241416600


NM_153717.3(EVC):c.2782+8A>G

rs760124824


NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)

rs1489027267


NM_153717.3(EVC):c.278311G>A



NM_153717.3(EVC):c.278311del



NM_153717.3(EVC):c.27833C>A



NM_153717.3(EVC):c.27834A>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.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.2842G>A (p.Val948Met)



NM_153717.3(EVC):c.2842del (p.Val948fs)



NM_153717.3(EVC):c.2844G>T (p.Val948=)



NM_153717.3(EVC):c.2853T>C (p.Asn951=)

rs371561252


NM_153717.3(EVC):c.2858A>T (p.Asp953Val)



NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)



NM_153717.3(EVC):c.2859C>T (p.Asp953=)



NM_153717.3(EVC):c.2862T>A (p.Leu954=)

rs2152394578


NM_153717.3(EVC):c.2863G>T (p.Ala955Ser)

rs2152394584


NM_153717.3(EVC):c.2865C>T (p.Ala955=)

rs1333691963


NM_153717.3(EVC):c.286A>T (p.Lys96Ter)

rs2151842550


NM_153717.3(EVC):c.2878A>G (p.Thr960Ala)

rs2152394644


NM_153717.3(EVC):c.2879C>G (p.Thr960Ser)

rs780548102


NM_153717.3(EVC):c.2883A>G (p.Ser961=)

rs1248488328


NM_153717.3(EVC):c.2885G>T (p.Gly962Val)



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+18_2894+19delinsGA



NM_153717.3(EVC):c.2894+4T>A

rs746636411


NM_153717.3(EVC):c.2894+7C>G

rs2152394737


NM_153717.3(EVC):c.2894+8T>C



NM_153717.3(EVC):c.289510_28959del

rs371125826


NM_153717.3(EVC):c.289512C>G



NM_153717.3(EVC):c.289512_289510del



NM_153717.3(EVC):c.289516_289513del

rs773917688


NM_153717.3(EVC):c.289516del

rs761097524


NM_153717.3(EVC):c.289520C>A



NM_153717.3(EVC):c.289520C>T



NM_153717.3(EVC):c.28958_28954del



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.2927C>T (p.Ala976Val)



NM_153717.3(EVC):c.2928T>A (p.Ala976=)



NM_153717.3(EVC):c.2931G>T (p.Gly977=)



NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)



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

rs150173231


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.2964AAG[1] (p.Arg989del)



NM_153717.3(EVC):c.2970C>A (p.Ser990Arg)

rs1716842535


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+1G>T



NM_153717.3(EVC):c.300+20T>C



NM_153717.3(EVC):c.300+24_300+27del



NM_153717.3(EVC):c.300+3A>G



NM_153717.3(EVC):c.300+7T>A



NM_153717.3(EVC):c.30110dup



NM_153717.3(EVC):c.30113C>G



NM_153717.3(EVC):c.3011G>A

rs1363547577


NM_153717.3(EVC):c.3017C>T

rs764925850


NM_153717.3(EVC):c.3019C>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.338dup (p.Ala114fs)

rs2151919221


NM_153717.3(EVC):c.34G>C (p.Ala12Pro)

rs1369066723


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.363C>A (p.Tyr121Ter)

rs748523193


NM_153717.3(EVC):c.369del (p.Asn124fs)



NM_153717.3(EVC):c.37C>T (p.Arg13Trp)



NM_153717.3(EVC):c.37_38del (p.Arg13fs)

rs1722986802


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.38513A>G



NM_153717.3(EVC):c.3851G>A



NM_153717.3(EVC):c.38520G>A



NM_153717.3(EVC):c.38520G>T



NM_153717.3(EVC):c.3853C>T

rs2151934859


NM_153717.3(EVC):c.3856C>T

rs1167563102


NM_153717.3(EVC):c.3857A>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.393del (p.Asp132fs)

rs1437174284


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.410C>T (p.Pro137Leu)



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.437C>G (p.Ala146Gly)

rs2151935147


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.478_481del (p.Ser160fs)

rs2151935449


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.499G>A (p.Gly167Ser)



NM_153717.3(EVC):c.49G>T (p.Gly17Trp)



NM_153717.3(EVC):c.507G>A (p.Lys169=)



NM_153717.3(EVC):c.511G>A (p.Asp171Asn)



NM_153717.3(EVC):c.528C>G (p.Ser176=)



NM_153717.3(EVC):c.528C>T (p.Ser176=)

rs532386294


NM_153717.3(EVC):c.528del (p.Ser177fs)

rs1381525157


NM_153717.3(EVC):c.531C>T (p.Ser177=)

rs542910336


NM_153717.3(EVC):c.535C>T (p.His179Tyr)



NM_153717.3(EVC):c.537C>T (p.His179=)



NM_153717.3(EVC):c.539C>A (p.Ser180Ter)

rs762136199


NM_153717.3(EVC):c.53G>T (p.Arg18Leu)



NM_153717.3(EVC):c.540G>T (p.Ser180=)



NM_153717.3(EVC):c.547A>G (p.Ser183Gly)



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.568dup (p.Arg190fs)



NM_153717.3(EVC):c.56_174+42del



NM_153717.3(EVC):c.573C>G (p.Thr191=)



NM_153717.3(EVC):c.579C>T (p.Leu193=)



NM_153717.3(EVC):c.581G>C (p.Arg194Pro)

rs777256784


NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer)

rs2151935987


NM_153717.3(EVC):c.587A>G (p.Asn196Ser)



NM_153717.3(EVC):c.589G>A (p.Ala197Thr)



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

rs115507440


NM_153717.3(EVC):c.58G>C (p.Ala20Pro)

rs1359522467


NM_153717.3(EVC):c.594C>T (p.Phe198=)

rs1224007808


NM_153717.3(EVC):c.596del (p.Pro199fs)



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.612C>A (p.Cys204Ter)

rs553634958


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

rs553634958


NM_153717.3(EVC):c.613G>T (p.Glu205Ter)



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+1G>A

rs1726841476


NM_153717.3(EVC):c.617+20G>T



NM_153717.3(EVC):c.617+2T>A



NM_153717.3(EVC):c.61813T>A



NM_153717.3(EVC):c.61814A>C

rs767274362


NM_153717.3(EVC):c.61815C>T



NM_153717.3(EVC):c.61818T>G



NM_153717.3(EVC):c.61819T>C



NM_153717.3(EVC):c.6182A>G



NM_153717.3(EVC):c.6189A>T

rs2151945814


NM_153717.3(EVC):c.62_68dup (p.Pro25fs)



NM_153717.3(EVC):c.630C>T (p.Asp210=)

rs1339867475


NM_153717.3(EVC):c.632T>A (p.Leu211Gln)



NM_153717.3(EVC):c.633G>T (p.Leu211=)



NM_153717.3(EVC):c.635del (p.Cys212fs)

rs2151945937


NM_153717.3(EVC):c.636T>C (p.Cys212=)

rs2151945944


NM_153717.3(EVC):c.641dup (p.Tyr214Ter)



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.653T>G (p.Leu218Ter)



NM_153717.3(EVC):c.65G>C (p.Arg22Pro)

rs2151767266


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.673del (p.Asp225fs)

rs2151946081


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.696G>C (p.Lys232Asn)

rs371664035


NM_153717.3(EVC):c.698A>C (p.His233Pro)



NM_153717.3(EVC):c.698A>G (p.His233Arg)

rs769431829


NM_153717.3(EVC):c.698dup (p.His233fs)

rs1553867117


NM_153717.3(EVC):c.69G>A (p.Pro23=)

rs1722996127


NM_153717.3(EVC):c.700A>G (p.Met234Val)



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.70310T>G

rs1231822006


NM_153717.3(EVC):c.70313T>A



NM_153717.3(EVC):c.70315C>T



NM_153717.3(EVC):c.70317T>C



NM_153717.3(EVC):c.70319T>G



NM_153717.3(EVC):c.7031G>C

rs1485152854


NM_153717.3(EVC):c.70320C>T



NM_153717.3(EVC):c.7035_7034dup



NM_153717.3(EVC):c.7037G>A

rs2152000339


NM_153717.3(EVC):c.7038G>C



NM_153717.3(EVC):c.708dup (p.Ile237fs)



NM_153717.3(EVC):c.719T>G (p.Phe240Cys)

rs2152000493


NM_153717.3(EVC):c.71C>A (p.Ala24Glu)



NM_153717.3(EVC):c.720dup (p.Lys241Ter)

rs1553871764


NM_153717.3(EVC):c.721A>T (p.Lys241Ter)

rs2152000498


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

rs1577395250


NM_153717.3(EVC):c.726G>A (p.Met242Ile)



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.731_757del (p.Leu244_Ser253delinsPro)

rs529818833


NM_153717.3(EVC):c.732C>T (p.Leu244=)

rs1035355173


NM_153717.3(EVC):c.734T>A (p.Leu245His)



NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)



NM_153717.3(EVC):c.73C>T (p.Pro25Ser)



NM_153717.3(EVC):c.747T>A (p.Pro249=)



NM_153717.3(EVC):c.752dup (p.Lys252fs)

rs1553871792


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.76G>T (p.Ala26Ser)



NM_153717.3(EVC):c.784del (p.Leu262fs)

rs1560315890


NM_153717.3(EVC):c.784dup (p.Leu262fs)



NM_153717.3(EVC):c.786T>C (p.Leu262=)



NM_153717.3(EVC):c.788C>G (p.Ser263Ter)

rs2152001027


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.801+1G>T



NM_153717.3(EVC):c.801+2T>C



NM_153717.3(EVC):c.80212_80211del

rs372546602


NM_153717.3(EVC):c.80212_8028del

rs753304898


NM_153717.3(EVC):c.80217TTC[3]

rs370315662


NM_153717.3(EVC):c.80217TTC[4]

rs370315662


NM_153717.3(EVC):c.80218T>C



NM_153717.3(EVC):c.80219T>C



NM_153717.3(EVC):c.8022A>G



NM_153717.3(EVC):c.8026C>T

rs773954366


NM_153717.3(EVC):c.8029C>A

rs1309092985


NM_153717.3(EVC):c.8029C>T

rs1309092985


NM_153717.3(EVC):c.807G>A (p.Leu269=)



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

rs1428021249


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.823G>A (p.Gly275Arg)



NM_153717.3(EVC):c.829C>T (p.Gln277Ter)

rs1251648799


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.857C>G (p.Ser286Trp)

rs139263450


NM_153717.3(EVC):c.858G>T (p.Ser286=)



NM_153717.3(EVC):c.861G>A (p.Gly287=)



NM_153717.3(EVC):c.866G>A (p.Gly289Asp)



NM_153717.3(EVC):c.870C>T (p.Asp290=)



NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)



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.901AAG[1] (p.Lys302del)

rs755381180


NM_153717.3(EVC):c.903G>A (p.Lys301=)

rs2152027698


NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)

rs1729197529


NM_153717.3(EVC):c.90C>T (p.Pro30=)



NM_153717.3(EVC):c.90del (p.Ala31fs)

rs1196950486


NM_153717.3(EVC):c.910dup (p.Arg304fs)

rs1428798262


NM_153717.3(EVC):c.91G>A (p.Ala31Thr)



NM_153717.3(EVC):c.922_923del (p.Glu308fs)

rs1729200967


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.935A>G (p.Asp312Gly)



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+1G>A

rs1553873138


NM_153717.3(EVC):c.939+20T>A



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



NM_153717.3(EVC):c.939T>A (p.Asn313Lys)

rs764394644


NM_153717.3(EVC):c.93C>T (p.Ala31=)

rs866226288


NM_153717.3(EVC):c.94014T>C



NM_153717.3(EVC):c.940150T>G

rs576076928


NM_153717.3(EVC):c.94015G>A



NM_153717.3(EVC):c.94015G>T



NM_153717.3(EVC):c.9406T>C

rs2152044901


NM_153717.3(EVC):c.9409A>G

rs1241925243


NM_153717.3(EVC):c.940A>G (p.Met314Val)

rs557010916


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.958C>T (p.Gln320Ter)



NM_153717.3(EVC):c.96G>A (p.Val32=)

rs2151767783


NM_153717.3(EVC):c.973C>T (p.Gln325Ter)

rs1729654379


NM_153717.3(EVC):c.986_987del (p.Val329fs)



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

