NC_000002.11:g.(?_152420500_152423885del


NC_000002.11:g.(?_152511637_152512693del


NC_000002.11:g.(?_152541945_152544192del


NM_001164508.2(NEB):c.101442A>G


NM_001164508.2(NEB):c.12330+5G>A


NM_001164508.2(NEB):c.1257+2T>G


NM_001164508.2(NEB):c.126401G>A


NM_001164508.2(NEB):c.127481_12761del


NM_001164508.2(NEB):c.134772A>G


NM_001164508.2(NEB):c.15702del


NM_001164508.2(NEB):c.184721G>C


NM_001164508.2(NEB):c.20262+2T>G


NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)

rs1553603400

NM_001164508.2(NEB):c.23556+1G>T


NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs)

rs1057516938

NM_001164508.2(NEB):c.239291G>C


NM_001164508.2(NEB):c.241152A>G


NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)

rs1266535163

NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs)

rs1553551650

NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)

rs752582527

NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)

rs776059611

NM_001164508.2(NEB):c.24765+1G>A


NM_001164508.2(NEB):c.28362A>G


NM_001164508.2(NEB):c.45071G>A


NM_001164508.2(NEB):c.45072A>C


NM_001164508.2(NEB):c.4611+1G>A


NM_001164508.2(NEB):c.6131G>A


NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)

rs1180339426

NM_001164508.2(NEB):c.8994+1G>A


NM_001164508.2(NEB):c.9281G>A


NM_001164508.2(NEB):c.9723+1G>A


NM_001271208.1(NEB):c.21103delG (p.Val7035Terfs)

rs1553686994

NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]


NM_001271208.2(NEB):c.10560+1G>A

rs1553915731

NM_001271208.2(NEB):c.10612C>T (p.Arg3538Ter)

rs779909544

NM_001271208.2(NEB):c.11076+1G>A

rs1460365350

NM_001271208.2(NEB):c.110771G>A

rs1458096844

NM_001271208.2(NEB):c.11181+2T>C

rs1553904694

NM_001271208.2(NEB):c.11289+1G>C

rs1553901249

NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp)

rs533027587

NM_001271208.2(NEB):c.11532A>G

rs1553609515

NM_001271208.2(NEB):c.116022A>C

rs1553891733

NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter)

rs776569219

NM_001271208.2(NEB):c.118061G>A

rs886041851

NM_001271208.2(NEB):c.11909_11910+4del

rs1553886582

NM_001271208.2(NEB):c.11910+1G>A

rs774495973

NM_001271208.2(NEB):c.12018+1G>A

rs762278237

NM_001271208.2(NEB):c.12330+2T>C

rs1374971806

NM_001271208.2(NEB):c.12582A>G

rs1553608621

NM_001271208.2(NEB):c.130602A>G


NM_001271208.2(NEB):c.13130_13131del (p.Met4377fs)

rs1490309743

NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter)

rs1212374733

NM_001271208.2(NEB):c.133696_13372delinsGGCATT


NM_001271208.2(NEB):c.13476+1G>A

rs1578868550

NM_001271208.2(NEB):c.1365+2T>C

rs770797137

NM_001271208.2(NEB):c.13662A>G

rs1553607505

NM_001271208.2(NEB):c.1470+1G>A

rs1220787593

NM_001271208.2(NEB):c.1569+1G>A

rs1553605553

NM_001271208.2(NEB):c.15702A>G

rs1553603958

NM_001271208.2(NEB):c.15702_1574del

rs1553603933

NM_001271208.2(NEB):c.1672_1674+2del

rs1057516739

NM_001271208.2(NEB):c.1674+1G>T

rs750585238

NM_001271208.2(NEB):c.1674+2T>C

rs1553603437

NM_001271208.2(NEB):c.17953_1847256del


NM_001271208.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)

rs1553601066

NM_001271208.2(NEB):c.18261+1G>T

rs112544116

NM_001271208.2(NEB):c.183671_18367delinsAA

rs1553770178

NM_001271208.2(NEB):c.183671_18370del

rs1553770146

NM_001271208.2(NEB):c.18471+1G>C

rs1553769576

NM_001271208.2(NEB):c.186942del

rs1553763404

NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter)

rs539819851

NM_001271208.2(NEB):c.18891+1G>A

rs1443738549

NM_001271208.2(NEB):c.18971G>A

rs1553593177

NM_001271208.2(NEB):c.18981C>G (p.Tyr6327Ter)

rs761964375

NM_001271208.2(NEB):c.18996+2T>C

rs1577636079

NM_001271208.2(NEB):c.19101+5G>A

rs374929094

NM_001271208.2(NEB):c.1910210_191024del

rs1577576425

NM_001271208.2(NEB):c.19126_19151del (p.Gln6376fs)

rs1553757097

NM_001271208.2(NEB):c.192071G>A

rs1553755829

NM_001271208.2(NEB):c.19405C>T (p.Arg6469Ter)

rs1553740233

NM_001271208.2(NEB):c.19626+1G>A

rs756352186

NM_001271208.2(NEB):c.19836+1G>T

rs1446930968

NM_001271208.2(NEB):c.19944G>A (p.Ser6648=)

rs201553266

NM_001271208.2(NEB):c.20157+2T>C

rs1553717306

NM_001271208.2(NEB):c.201581G>C

rs1553715579

NM_001271208.2(NEB):c.20390_20412del (p.Gln6797fs)

rs1553710982

NM_001271208.2(NEB):c.20401G>T (p.Gly6801Ter)

rs1405498595

NM_001271208.2(NEB):c.204671G>T

rs760082702

NM_001271208.2(NEB):c.20514C>A (p.Tyr6838Ter)

rs1242775893

NM_001271208.2(NEB):c.20577+2T>C

rs1185654671

NM_001271208.2(NEB):c.20659C>T (p.Arg6887Ter)

rs749452641

NM_001271208.2(NEB):c.20682+1G>A

rs1576819152

NM_001271208.2(NEB):c.20787+2T>C

rs1337287633

NM_001271208.2(NEB):c.207881G>A

rs1553695557

NM_001271208.2(NEB):c.20889dup (p.Asp6964Ter)

rs1553694860

NM_001271208.2(NEB):c.21093_21094del (p.Val7032fs)

rs1553688242

NM_001271208.2(NEB):c.21312+1G>A

rs1553682994

NM_001271208.2(NEB):c.21321C>G (p.Tyr7107Ter)

rs1553679273

NM_001271208.2(NEB):c.21358del (p.Leu7120fs)

rs1553678967

NM_001271208.2(NEB):c.21735+1G>A

rs1446706909

NM_001271208.2(NEB):c.2184113_21848del

rs767772838

NM_001271208.2(NEB):c.218412A>G

rs1389892619

NM_001271208.2(NEB):c.2211+1G>A

rs1553586486

NM_001271208.2(NEB):c.2211+5G>T

rs797045736

NM_001271208.2(NEB):c.22122A>G

rs1553580540

NM_001271208.2(NEB):c.22192C>T (p.Gln7398Ter)

rs1553646540

NM_001271208.2(NEB):c.22243del (p.Glu7415fs)

rs1235589246

NM_001271208.2(NEB):c.222675_222672del

rs1553644243

NM_001271208.2(NEB):c.223781G>A

rs1553642332

NM_001271208.2(NEB):c.22584+1del

rs1488066635

NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter)

rs760935667

NM_001271208.2(NEB):c.22695+2T>C

rs200449517

NM_001271208.2(NEB):c.226961G>C

rs757157808

NM_001271208.2(NEB):c.228011G>A

rs745511810

NM_001271208.2(NEB):c.22853C>G (p.Pro7618Arg)

rs1575897069

NM_001271208.2(NEB):c.22905+1G>A

rs1302373559

NM_001271208.2(NEB):c.22905+2T>G

rs1553627466

NM_001271208.2(NEB):c.23010+2T>C

rs1553623367

NM_001271208.2(NEB):c.2310+2T>A

rs1553579092

NM_001271208.2(NEB):c.23232+2T>C

rs112610938

NM_001271208.2(NEB):c.23346+2T>A

rs1553615846

NM_001271208.2(NEB):c.23483del (p.Met7828fs)

rs1553603690

NM_001271208.2(NEB):c.23520dup (p.Gln7841fs)

rs1553603438

NM_001271208.2(NEB):c.23556+1G>C

rs1011425121

NM_001271208.2(NEB):c.23556+1G>T

rs1011425121

NM_001271208.2(NEB):c.23847+2T>C

rs545937015

NM_001271208.2(NEB):c.238481G>C

rs797045098

NM_001271208.2(NEB):c.2385del (p.Gln795fs)

rs1553568167

NM_001271208.2(NEB):c.23939C>A (p.Ser7980Ter)

rs755970391

NM_001271208.2(NEB):c.23940+1G>A

rs781120931

NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter)

rs549794342

NM_001271208.2(NEB):c.241271G>A

rs1553561697

NM_001271208.2(NEB):c.241271G>C

rs1553561697

NM_001271208.2(NEB):c.241271_24134del

rs1423137705

NM_001271208.2(NEB):c.24128_24131dup (p.Leu8044fs)

rs1553561665

NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs)

rs772009599

NM_001271208.2(NEB):c.24144del (p.Asn8048fs)

rs1553561525

NM_001271208.2(NEB):c.2415+2T>C

rs1057517399

NM_001271208.2(NEB):c.24161G>C

rs1553565278

NM_001271208.2(NEB):c.24201_24204dup (p.Glu8069fs)

rs1553561211

NM_001271208.2(NEB):c.24219+1G>A

rs755239192

NM_001271208.2(NEB):c.24232_24235dup (p.Asn8079fs)

rs1553556275

NM_001271208.2(NEB):c.24312+2T>C

rs1553555768

NM_001271208.2(NEB):c.24313_24317dup (p.Tyr8107fs)

rs1553552413

NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs)

rs781667543

NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs)

rs1553552384

NM_001271208.2(NEB):c.24317T>A (p.Leu8106Ter)

rs756726488

NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter)

rs1218073575

NM_001271208.2(NEB):c.24380_24383dup (p.His8128fs)

rs1553551748

NM_001271208.2(NEB):c.24405+1G>A

rs1366853918

NM_001271208.2(NEB):c.24406_24410dup (p.Tyr8138fs)

rs1553548771

NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs)

rs1344099907

NM_001271208.2(NEB):c.24410T>A (p.Leu8137Ter)

rs1553548752

NM_001271208.2(NEB):c.24414C>A (p.Tyr8138Ter)

rs1332061304

NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs)

rs1257495033

NM_001271208.2(NEB):c.24473_24476dup (p.His8159fs)

rs1553548207

NM_001271208.2(NEB):c.24482_24488del (p.Gln8161fs)

rs1553548018

NM_001271208.2(NEB):c.24498+1G>A

rs775631800

NM_001271208.2(NEB):c.244991G>A

rs1421095081

NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter)

rs763364977

NM_001271208.2(NEB):c.24582_24585dup (p.Ser8196delinsTyrTer)

rs797044606

NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs)

rs1553537512

NM_001271208.2(NEB):c.246851G>C

rs1574772311

NM_001271208.2(NEB):c.246852A>G

rs113290650

NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter)

rs754272530

NM_001271208.2(NEB):c.2472_2638455del


NM_001271208.2(NEB):c.24742G>T (p.Glu8248Ter)

rs1553536267

NM_001271208.2(NEB):c.24744_24745del (p.Arg8249fs)

rs1357811155

NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer)

rs794727136

NM_001271208.2(NEB):c.24771del (p.Phe8257fs)

rs794727136

NM_001271208.2(NEB):c.247781G>A

rs1574741105

NM_001271208.2(NEB):c.247782A>C

rs112687345

NM_001271208.2(NEB):c.248719_24872del

rs1553530144

NM_001271208.2(NEB):c.2499del (p.Ala834fs)

rs1553564693

NM_001271208.2(NEB):c.25093C>T (p.Arg8365Ter)

rs767709270

NM_001271208.2(NEB):c.25117delinsTA (p.Glu8373Ter)

rs1553526619

NM_001271208.2(NEB):c.25162+1G>A

rs1191429915

NM_001271208.2(NEB):c.25162+1G>C

rs1191429915

NM_001271208.2(NEB):c.251632A>C

rs866309952

NM_001271208.2(NEB):c.2523+2T>A


NM_001271208.2(NEB):c.252561G>T

rs1553520609

NM_001271208.2(NEB):c.25402+1G>A

rs113525641

NM_001271208.2(NEB):c.25402+2del

rs1553519860

NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter)

rs200731870

NM_001271208.2(NEB):c.25445C>A (p.Ser8482Ter)

rs1553519124

NM_001271208.2(NEB):c.25509+1_25509+2insATGGA

rs1357452519

NM_001271208.2(NEB):c.25509+2T>A

rs1553518813

NM_001271208.2(NEB):c.2659G>T (p.Glu887Ter)

rs1553558398

NM_001271208.2(NEB):c.2751del (p.Asp916_Tyr917insTer)

rs1553557405

NM_001271208.2(NEB):c.2784del (p.Asp929fs)

rs786204430

NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter)

rs1553548666

NM_001271208.2(NEB):c.294+2T>C

rs773952935

NM_001271208.2(NEB):c.29441G>A

rs1553542669

NM_001271208.2(NEB):c.2951G>T

rs111300270

NM_001271208.2(NEB):c.3042+1G>A


NM_001271208.2(NEB):c.30431G>A

rs113326313

NM_001271208.2(NEB):c.3147+1del

rs1553539777

NM_001271208.2(NEB):c.3255+1G>C

rs375628303

NM_001271208.2(NEB):c.3255+1G>T

rs375628303

NM_001271208.2(NEB):c.3255+1del

rs1553538835

NM_001271208.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)

rs1159756073

NM_001271208.2(NEB):c.3567+1G>A

rs587780399

NM_001271208.2(NEB):c.3567+1G>C

rs587780399

NM_001271208.2(NEB):c.36+1G>C


NM_001271208.2(NEB):c.371G>A

rs1428597732

NM_001271208.2(NEB):c.371G>C

rs1428597732

NM_001271208.2(NEB):c.3774+2T>C

rs1553531049

NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly)

rs1553521537

NM_001271208.2(NEB):c.3879+1G>A

rs746999970

NM_001271208.2(NEB):c.38801G>T

rs1057516381

NM_001271208.2(NEB):c.38802A>G

rs1342507012

NM_001271208.2(NEB):c.3987+1_3987+2delinsTG

rs786204576

NM_001271208.2(NEB):c.39881G>A

rs1553517128

NM_001271208.2(NEB):c.4036_405del

rs1553689774

NM_001271208.2(NEB):c.412C>T (p.Arg138Ter)

rs1057517360

NM_001271208.2(NEB):c.4299+4A>G

rs781754253

NM_001271208.2(NEB):c.43002A>C

rs1553512813

NM_001271208.2(NEB):c.4506+1G>A

rs112517981

NM_001271208.2(NEB):c.45072A>G

rs1575668113

NM_001271208.2(NEB):c.4719+2T>C

rs1553501889

NM_001271208.2(NEB):c.5031+1G>A

rs1553495140

NM_001271208.2(NEB):c.507+1G>A

rs1553689057

NM_001271208.2(NEB):c.53441G>A

rs1197561990

NM_001271208.2(NEB):c.53441G>C

rs1197561990

NM_001271208.2(NEB):c.5451+2_5451+11del

rs1553487838

NM_001271208.2(NEB):c.54522A>G

rs1057517317

NM_001271208.2(NEB):c.6075+1G>A

rs1553472127

NM_001271208.2(NEB):c.60761G>T

rs1553469502

NM_001271208.2(NEB):c.60762A>C

rs1553469514

NM_001271208.2(NEB):c.60762A>G

rs1553469514

NM_001271208.2(NEB):c.6078del (p.Lys2026fs)

rs1057516758

NM_001271208.2(NEB):c.6131G>C

rs767693366

NM_001271208.2(NEB):c.6132A>G

rs752893483

NM_001271208.2(NEB):c.6183+1G>A

rs557870969

NM_001271208.2(NEB):c.6183+1del

rs1553468960

NM_001271208.2(NEB):c.6183+2T>A

rs1553468939

NM_001271208.2(NEB):c.68082A>T

rs1553457607

NM_001271208.2(NEB):c.6937C>T (p.Arg2313Ter)

rs756363951

NM_001271208.2(NEB):c.717+1G>A

rs1577833924

NM_001271208.2(NEB):c.7227+2T>C

rs1553448527

NM_001271208.2(NEB):c.72281G>A

rs1057516996

NM_001271208.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)

rs1057516348

NM_001271208.2(NEB):c.74322A>G

rs1553990438

NM_001271208.2(NEB):c.7647C>G (p.Tyr2549Ter)

rs1373493309

NM_001271208.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer)

rs1553983416

NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs)

rs398124172

NM_001271208.2(NEB):c.8038C>T (p.Arg2680Ter)

rs1057516676

NM_001271208.2(NEB):c.822+1G>A


NM_001271208.2(NEB):c.8232A>G

rs1553642811

NM_001271208.2(NEB):c.83741G>A

rs1180407562

NM_001271208.2(NEB):c.8392_8395dup (p.Arg2799fs)

rs765403861

NM_001271208.2(NEB):c.8860del (p.Ala2954fs)

rs1553964158

NM_001271208.2(NEB):c.8887A>T (p.Lys2963Ter)

rs1553963973

NM_001271208.2(NEB):c.8889+1G>A

rs1553963960

NM_001271208.2(NEB):c.8994+2T>C

rs1553962493

NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter)

rs1057517977

NM_001271208.2(NEB):c.9102+1G>A

rs143644938

NM_001271208.2(NEB):c.9108del (p.Lys3036fs)

rs1553948395

NM_001271208.2(NEB):c.9246G>A (p.Trp3082Ter)

rs1553947423

NM_001271208.2(NEB):c.927+1G>A

rs374562457

NM_001271208.2(NEB):c.9346G>T (p.Glu3116Ter)

rs193042896

NM_001271208.2(NEB):c.9414+1G>A

rs1255445731

NM_001271208.2(NEB):c.9414+1G>T

rs1255445731

NM_001271208.2(NEB):c.9428C>G (p.Ser3143Ter)

rs1553939806

NM_001271208.2(NEB):c.9440G>A (p.Trp3147Ter)

rs1553939774

NM_001271208.2(NEB):c.9457dup (p.Trp3153fs)

rs1553939660

NM_001271208.2(NEB):c.9459G>A (p.Trp3153Ter)

rs1553939648

NM_001271208.2(NEB):c.9465del (p.Ile3156fs)

rs1553939600

NM_001271208.2(NEB):c.9485del (p.Val3162fs)

rs1553939284

NM_001271208.2(NEB):c.9576del (p.Glu3193fs)

rs1553938571

NM_001271208.2(NEB):c.96191G>A

rs1390379576

NM_001271208.2(NEB):c.96192A>G

rs375145370

NM_001271208.2(NEB):c.97241G>A

rs1553934586

NM_001271208.2(NEB):c.97242A>G

rs1553934597

NM_001271208.2(NEB):c.9831+1G>A

rs1553933986

NM_001271208.2(NEB):c.9943del (p.Asp3315fs)

rs1553930053
