NM_001365116.2(NBEAL2):c.1721G>A (p.Trp574Ter)

rs794726682

NM_015175.2(NBEAL2):c.*104del

rs397708574

NM_015175.2(NBEAL2):c.*151dup

rs886058608

NM_015175.2(NBEAL2):c.*155C>A

rs886058609

NM_015175.2(NBEAL2):c.*179C>A

rs111271184

NM_015175.2(NBEAL2):c.*216A>G

rs2305640

NM_015175.2(NBEAL2):c.*219A>C

rs1048808

NM_015175.2(NBEAL2):c.*244C>G

rs886058610

NM_015175.2(NBEAL2):c.*263C>T

rs886058611

NM_015175.2(NBEAL2):c.*37C>G

rs886058607

NM_015175.2(NBEAL2):c.*65A>G

rs538014431

NM_015175.2(NBEAL2):c.1038C>T (p.Tyr346=)

rs201015016

NM_015175.2(NBEAL2):c.1053G>A (p.Ala351=)

rs185057557

NM_015175.2(NBEAL2):c.1081A>G (p.Thr361Ala)

rs769842468

NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro)

rs387907113

NM_015175.2(NBEAL2):c.1212G>A (p.Glu404=)

rs769130047

NM_015175.2(NBEAL2):c.123C>G (p.Ser41=)

rs61734084

NM_015175.2(NBEAL2):c.1271G>A (p.Arg424Gln)

rs768145657

NM_015175.2(NBEAL2):c.1340G>A (p.Arg447His)

rs17079425

NM_015175.2(NBEAL2):c.1353G>A (p.Pro451=)

rs115611407

NM_015175.2(NBEAL2):c.1380G>A (p.Pro460=)

rs114363730

NM_015175.2(NBEAL2):c.1393G>A (p.Ala465Thr)

rs746838327

NM_015175.2(NBEAL2):c.1531C>G (p.Arg511Gly)

rs11720139

NM_015175.2(NBEAL2):c.1532G>C (p.Arg511Pro)

rs770721155

NM_015175.2(NBEAL2):c.1600C>T (p.Arg534Cys)

rs202209383

NM_015175.2(NBEAL2):c.1613G>A (p.Arg538His)

rs368310677

NM_015175.2(NBEAL2):c.1618C>T (p.Arg540Trp)

rs201777850

NM_015175.2(NBEAL2):c.1789C>T (p.Arg597Ter)

rs1172581672

NM_015175.2(NBEAL2):c.1793G>A (p.Trp598Ter)

rs1553659758

NM_015175.2(NBEAL2):c.1860del (p.Ala621fs)

rs1235183015

NM_015175.2(NBEAL2):c.1871G>A (p.Arg624Gln)

rs374527787

NM_015175.2(NBEAL2):c.1928A>T (p.Glu643Val)

rs387907114

NM_015175.2(NBEAL2):c.1948G>A (p.Gly650Arg)

rs201373710

NM_015175.2(NBEAL2):c.1975C>T (p.Arg659Trp)

rs555487179

NM_015175.2(NBEAL2):c.1976G>A (p.Arg659Gln)

rs567205565

NM_015175.2(NBEAL2):c.2195C>T (p.Thr732Met)

rs376623029

NM_015175.2(NBEAL2):c.2219C>A (p.Thr740Lys)

rs886058594

NM_015175.2(NBEAL2):c.2231C>T (p.Pro744Leu)

rs375744996

NM_015175.2(NBEAL2):c.2376G>A (p.Arg792=)

rs200489667

NM_015175.2(NBEAL2):c.2445G>A (p.Ala815=)

rs116456978

NM_015175.2(NBEAL2):c.2473+7A>G

rs886058595

NM_015175.2(NBEAL2):c.2486C>T (p.Thr829Met)

rs577957158

NM_015175.2(NBEAL2):c.2532G>A (p.Arg844=)

rs759157034

NM_015175.2(NBEAL2):c.2537T>C (p.Leu846Pro)

rs1575602690

NM_015175.2(NBEAL2):c.25575C>G

rs760228884

NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter)

rs387907112

NM_015175.2(NBEAL2):c.2887G>T (p.Gly963Cys)

rs368638331

NM_015175.2(NBEAL2):c.3036C>T (p.Ser1012=)

rs139218926

NM_015175.2(NBEAL2):c.3087C>T (p.Leu1029=)

rs373998295

NM_015175.2(NBEAL2):c.3108C>T (p.Ala1036=)

rs886058596

NM_015175.2(NBEAL2):c.3135G>A (p.Met1045Ile)

rs373596976

NM_015175.2(NBEAL2):c.3308G>A (p.Arg1103Gln)

rs374012992

NM_015175.2(NBEAL2):c.3327C>T (p.Asp1109=)

rs143491739

NM_015175.2(NBEAL2):c.3373G>A (p.Asp1125Asn)

rs373444282

NM_015175.2(NBEAL2):c.3414C>T (p.Ala1138=)

rs886058597

NM_015175.2(NBEAL2):c.3607C>T (p.Arg1203Trp)

rs769438781

NM_015175.2(NBEAL2):c.3728T>C (p.Leu1243Pro)

rs753466927

NM_015175.2(NBEAL2):c.384C>G (p.Gly128=)

rs113523265

NM_015175.2(NBEAL2):c.4000C>G (p.Pro1334Ala)

rs564781036

NM_015175.2(NBEAL2):c.4081G>T (p.Glu1361Ter)

rs1553663498

NM_015175.2(NBEAL2):c.4121G>A (p.Gly1374Asp)

rs886058598

NM_015175.2(NBEAL2):c.4123G>A (p.Gly1375Ser)

rs771754714

NM_015175.2(NBEAL2):c.4169C>T (p.Ser1390Leu)

rs569206224

NM_015175.2(NBEAL2):c.4170G>A (p.Ser1390=)

rs139822454

NM_015175.2(NBEAL2):c.4246G>A (p.Gly1416Ser)

rs781701383

NM_015175.2(NBEAL2):c.4257G>A (p.Pro1419=)

rs116791394

NM_015175.2(NBEAL2):c.430615C>G

rs886058599

NM_015175.2(NBEAL2):c.4367G>A (p.Arg1456His)

rs117340996

NM_015175.2(NBEAL2):c.440A>G (p.Asp147Gly)

rs886058591

NM_015175.2(NBEAL2):c.44858C>T

rs145760682

NM_015175.2(NBEAL2):c.4532C>T (p.Ala1511Val)

rs886058600

NM_015175.2(NBEAL2):c.4669C>G (p.Leu1557Val)

rs534419583

NM_015175.2(NBEAL2):c.4704C>T (p.Asn1568=)

rs12489851

NM_015175.2(NBEAL2):c.4744C>T

rs375726193

NM_015175.2(NBEAL2):c.4789G>A (p.Ala1597Thr)

rs147659992

NM_015175.2(NBEAL2):c.4911C>T (p.Ser1637=)

rs2305634

NM_015175.2(NBEAL2):c.4978C>T (p.Arg1660Cys)

rs142355538

NM_015175.2(NBEAL2):c.4995G>A (p.Val1665=)

rs2305635

NM_015175.2(NBEAL2):c.5103C>T (p.Phe1701=)

rs199537643

NM_015175.2(NBEAL2):c.5277C>T (p.Arg1759=)

rs370969690

NM_015175.2(NBEAL2):c.5301+11C>T

rs201354947

NM_015175.2(NBEAL2):c.530213A>T

rs11928558

NM_015175.2(NBEAL2):c.5356A>T (p.Thr1786Ser)

rs373627201

NM_015175.2(NBEAL2):c.5381C>T (p.Thr1794Met)

rs146899838

NM_015175.2(NBEAL2):c.5413dup (p.Ala1805fs)

rs794726683

NM_015175.2(NBEAL2):c.544G>A (p.Ala182Thr)

rs745890949

NM_015175.2(NBEAL2):c.5459+8G>A

rs747932446

NM_015175.2(NBEAL2):c.5661A>C (p.Pro1887=)

rs140548682

NM_015175.2(NBEAL2):c.5769G>A (p.Ser1923=)

rs200100160

NM_015175.2(NBEAL2):c.5777G>A (p.Cys1926Tyr)

rs1575619957

NM_015175.2(NBEAL2):c.5881+11G>A

rs201179667

NM_015175.2(NBEAL2):c.6054C>G (p.Pro2018=)

rs1079276

NM_015175.2(NBEAL2):c.607dup (p.Ile203fs)

rs1575592157

NM_015175.2(NBEAL2):c.6145T>C (p.Tyr2049His)

rs886058601

NM_015175.2(NBEAL2):c.6161C>T (p.Ser2054Phe)

rs2305637

NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu)

rs387907115

NM_015175.2(NBEAL2):c.6318C>T (p.Tyr2106=)

rs141569354

NM_015175.2(NBEAL2):c.634G>A (p.Gly212Arg)

rs886058592

NM_015175.2(NBEAL2):c.6359G>A (p.Arg2120Gln)

rs762258197

NM_015175.2(NBEAL2):c.6404A>G (p.Gln2135Arg)

rs886058602

NM_015175.2(NBEAL2):c.6413G>A (p.Arg2138Lys)

rs886058603

NM_015175.2(NBEAL2):c.6460T>C (p.Phe2154Leu)

rs1575623184

NM_015175.2(NBEAL2):c.6657C>A (p.Phe2219Leu)

rs749279630

NM_015175.2(NBEAL2):c.6723C>T (p.Asn2241=)

rs563986757

NM_015175.2(NBEAL2):c.690G>C (p.Leu230=)

rs181297174

NM_015175.2(NBEAL2):c.6919+9T>C

rs3816531

NM_015175.2(NBEAL2):c.713513C>T

rs767606190

NM_015175.2(NBEAL2):c.7177C>T (p.His2393Tyr)

rs886058604

NM_015175.2(NBEAL2):c.7248G>A (p.Leu2416=)

rs749025670

NM_015175.2(NBEAL2):c.7387C>T (p.Gln2463Ter)

rs1575629721

NM_015175.2(NBEAL2):c.7407G>A (p.Pro2469=)

rs568006584

NM_015175.2(NBEAL2):c.7507+6A>G

rs74418680

NM_015175.2(NBEAL2):c.7513G>A (p.Val2505Ile)

rs886058605

NM_015175.2(NBEAL2):c.7658G>A (p.Gly2553Glu)

rs144664865

NM_015175.2(NBEAL2):c.7736T>C (p.Ile2579Thr)

rs778429939

NM_015175.2(NBEAL2):c.8096G>A (p.Arg2699His)

rs376357238

NM_015175.2(NBEAL2):c.81643C>G

rs886058606

NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter)

rs372277612

NM_015175.2(NBEAL2):c.907C>G (p.Leu303Val)

rs886058593

NM_015175.3(NBEAL2):c.*225G>T


NM_015175.3(NBEAL2):c.*246T>C


NM_015175.3(NBEAL2):c.*267G>C


NM_015175.3(NBEAL2):c.*333G>A


NM_015175.3(NBEAL2):c.*375T>G


NM_015175.3(NBEAL2):c.1102G>A (p.Asp368Asn)


NM_015175.3(NBEAL2):c.11149C>T


NM_015175.3(NBEAL2):c.1134C>T (p.Asp378=)


NM_015175.3(NBEAL2):c.1156A>G (p.Arg386Gly)


NM_015175.3(NBEAL2):c.1344C>T (p.Asn448=)


NM_015175.3(NBEAL2):c.1367C>T (p.Ala456Val)


NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)


NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=)

rs371768924

NM_015175.3(NBEAL2):c.165C>T (p.Val55=)


NM_015175.3(NBEAL2):c.1687C>T (p.Arg563Cys)


NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs)


NM_015175.3(NBEAL2):c.1728T>G (p.Arg576=)


NM_015175.3(NBEAL2):c.1736G>A (p.Arg579His)


NM_015175.3(NBEAL2):c.1762G>A (p.Ala588Thr)


NM_015175.3(NBEAL2):c.1764G>A (p.Ala588=)


NM_015175.3(NBEAL2):c.187C>T (p.Leu63=)

rs80105480

NM_015175.3(NBEAL2):c.18996C>T


NM_015175.3(NBEAL2):c.1907C>T (p.Thr636Ile)


NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del)


NM_015175.3(NBEAL2):c.1985A>G (p.Tyr662Cys)


NM_015175.3(NBEAL2):c.2062C>T (p.Arg688Cys)


NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr)


NM_015175.3(NBEAL2):c.2375G>A

rs140354422

NM_015175.3(NBEAL2):c.2487G>A (p.Thr829=)


NM_015175.3(NBEAL2):c.2505G>A (p.Glu835=)


NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu)


NM_015175.3(NBEAL2):c.2556+12C>A


NM_015175.3(NBEAL2):c.26501G>A


NM_015175.3(NBEAL2):c.2686C>A (p.Leu896Met)


NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)


NM_015175.3(NBEAL2):c.277G>A (p.Glu93Lys)


NM_015175.3(NBEAL2):c.2958+3G>A


NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His)


NM_015175.3(NBEAL2):c.3106G>A (p.Ala1036Thr)


NM_015175.3(NBEAL2):c.3118+2T>G

rs1349443190

NM_015175.3(NBEAL2):c.31196G>A


NM_015175.3(NBEAL2):c.3170G>C (p.Arg1057Pro)


NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile)


NM_015175.3(NBEAL2):c.3210C>T (p.Arg1070=)


NM_015175.3(NBEAL2):c.3253G>A (p.Asp1085Asn)


NM_015175.3(NBEAL2):c.3291G>A (p.Ala1097=)


NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met)

rs202071400

NM_015175.3(NBEAL2):c.3384+5G>A

rs370559049

NM_015175.3(NBEAL2):c.3529G>A (p.Asp1177Asn)


NM_015175.3(NBEAL2):c.354416G>A


NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg)


NM_015175.3(NBEAL2):c.3789+4A>C


NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=)

rs369906164

NM_015175.3(NBEAL2):c.406C>T (p.Leu136=)


NM_015175.3(NBEAL2):c.4122C>T (p.Gly1374=)


NM_015175.3(NBEAL2):c.4126A>G (p.Ser1376Gly)


NM_015175.3(NBEAL2):c.4245C>T (p.Asp1415=)


NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys)


NM_015175.3(NBEAL2):c.4361C>T (p.Thr1454Met)


NM_015175.3(NBEAL2):c.441C>T (p.Asp147=)


NM_015175.3(NBEAL2):c.4459C>T (p.Arg1487Cys)


NM_015175.3(NBEAL2):c.44851G>T


NM_015175.3(NBEAL2):c.4526A>G (p.Lys1509Arg)


NM_015175.3(NBEAL2):c.4676G>A (p.Arg1559His)


NM_015175.3(NBEAL2):c.467G>A (p.Arg156His)

rs199797249

NM_015175.3(NBEAL2):c.4840C>A (p.Arg1614Ser)


NM_015175.3(NBEAL2):c.4841G>A (p.Arg1614His)


NM_015175.3(NBEAL2):c.4846G>A (p.Glu1616Lys)


NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs)


NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs)


NM_015175.3(NBEAL2):c.4979G>A (p.Arg1660His)


NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His)


NM_015175.3(NBEAL2):c.5082C>T (p.Ser1694=)


NM_015175.3(NBEAL2):c.5335C>T (p.Arg1779Cys)


NM_015175.3(NBEAL2):c.5413G>A (p.Ala1805Thr)


NM_015175.3(NBEAL2):c.546013G>T


NM_015175.3(NBEAL2):c.5516G>A (p.Arg1839His)


NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala)


NM_015175.3(NBEAL2):c.5664C>T (p.Pro1888=)


NM_015175.3(NBEAL2):c.5688C>T (p.Leu1896=)


NM_015175.3(NBEAL2):c.5864G>A (p.Arg1955His)


NM_015175.3(NBEAL2):c.5874C>T (p.Thr1958=)


NM_015175.3(NBEAL2):c.5900G>A (p.Arg1967Gln)


NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)


NM_015175.3(NBEAL2):c.5980G>A (p.Asp1994Asn)


NM_015175.3(NBEAL2):c.6023C>T (p.Thr2008Met)


NM_015175.3(NBEAL2):c.6157C>T (p.Arg2053Cys)


NM_015175.3(NBEAL2):c.6165C>G (p.Pro2055=)


NM_015175.3(NBEAL2):c.6173T>C (p.Met2058Thr)


NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg)


NM_015175.3(NBEAL2):c.6258G>A (p.Ala2086=)


NM_015175.3(NBEAL2):c.6351C>T (p.Ala2117=)


NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile)


NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=)

rs187781607

NM_015175.3(NBEAL2):c.6409G>A (p.Val2137Met)


NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs)

rs1575623114

NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs)


NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=)


NM_015175.3(NBEAL2):c.6706T>G (p.Cys2236Gly)


NM_015175.3(NBEAL2):c.6736G>A (p.Asp2246Asn)


NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys)


NM_015175.3(NBEAL2):c.6866G>A

rs181413143

NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys)


NM_015175.3(NBEAL2):c.6919+12G>A


NM_015175.3(NBEAL2):c.69201G>C


NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro)

rs377326649

NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=)


NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)


NM_015175.3(NBEAL2):c.72251G>C

rs1575628744

NM_015175.3(NBEAL2):c.7280G>A (p.Arg2427His)


NM_015175.3(NBEAL2):c.7453C>T (p.Arg2485Trp)


NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)


NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)


NM_015175.3(NBEAL2):c.7564C>G (p.Arg2522Gly)


NM_015175.3(NBEAL2):c.7602+10G>A

rs201513299

NM_015175.3(NBEAL2):c.7602+12G>A


NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=)

rs72909849

NM_015175.3(NBEAL2):c.7922G>A (p.Arg2641Gln)


NM_015175.3(NBEAL2):c.7923G>A (p.Arg2641=)


NM_015175.3(NBEAL2):c.792C>T (p.Ser264=)


NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro)


NM_015175.3(NBEAL2):c.7980G>A (p.Val2660=)


NM_015175.3(NBEAL2):c.808G>A (p.Gly270Ser)


NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg)

rs201641746

NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala)

rs200666191
