GRCh37/hg19 11p15.5(chr11:17745081785629)x3


NC_000011.10:g.1764137C>T

rs536065000

NC_000011.10:g.1764171T>C

rs144932926

NC_000011.10:g.1764217C>T

rs191726273

NM_001909.5(CTSD):c.*10C>T

rs768283127

NM_001909.5(CTSD):c.*11G>A

rs377057633

NM_001909.5(CTSD):c.*14C>T

rs556410676

NM_001909.5(CTSD):c.*15G>A

rs745784791

NM_001909.5(CTSD):c.*17G>A

rs201616935

NM_001909.5(CTSD):c.*19G>A

rs201434721

NM_001909.5(CTSD):c.*4C>G

rs1057521403

NM_001909.5(CTSD):c.24C>T

rs587780917

NM_001909.5(CTSD):c.30G>C

rs937590868

NM_001909.5(CTSD):c.32C>T

rs1057523809

NM_001909.5(CTSD):c.36G>C

rs1474705113

NM_001909.5(CTSD):c.37G>A

rs756112449

NM_001909.5(CTSD):c.40C>T

rs780212490

NM_001909.5(CTSD):c.45A>G

rs1167050955

NM_001909.5(CTSD):c.6G>T

rs951801692

NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)

rs147800688

NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)

rs779278368

NM_001909.5(CTSD):c.1010C>T (p.Ala337Val)

rs1057518324

NM_001909.5(CTSD):c.1023G>A (p.Lys341=)

rs111849172

NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu)

rs796052406

NM_001909.5(CTSD):c.1071+12A>G

rs113936232

NM_001909.5(CTSD):c.1071+12A>T

rs113936232

NM_001909.5(CTSD):c.1071+7G>A

rs374010531

NM_001909.5(CTSD):c.1071+9G>A

rs747408239

NM_001909.5(CTSD):c.107234T>C

rs112379600

NM_001909.5(CTSD):c.10727G>A

rs149019571

NM_001909.5(CTSD):c.1077G>A (p.Ser359=)

rs138940129

NM_001909.5(CTSD):c.1116C>T (p.Gly372=)

rs557342549

NM_001909.5(CTSD):c.1122C>T (p.Asp374=)

rs145821780

NM_001909.5(CTSD):c.1137C>T (p.Ser379=)

rs141981301

NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)

rs767863175

NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)

rs202073338

NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)

rs147553344

NM_001909.5(CTSD):c.1210G>T (p.Val404Leu)

rs750489880

NM_001909.5(CTSD):c.1211T>G (p.Val404Gly)

rs796052399

NM_001909.5(CTSD):c.1230C>T (p.Ala410=)

rs772742148

NM_001909.5(CTSD):c.131A>T (p.Glu44Val)

rs1554963026

NM_001909.5(CTSD):c.135C>G (p.Asp45Glu)

rs573939509

NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)

rs764386803

NM_001909.5(CTSD):c.153C>T (p.Pro51=)

rs560041488

NM_001909.5(CTSD):c.154G>A (p.Val52Ile)

rs143517230

NM_001909.5(CTSD):c.173C>T (p.Ala58Val)

rs17571

NM_001909.5(CTSD):c.174G>A (p.Ala58=)

rs565191387

NM_001909.5(CTSD):c.189C>T (p.Thr63=)

rs114051835

NM_001909.5(CTSD):c.216G>A (p.Lys72=)

rs764982673

NM_001909.5(CTSD):c.228+18G>T

rs376354665

NM_001909.5(CTSD):c.228C>T (p.Asp76=)

rs587780914

NM_001909.5(CTSD):c.22919G>A

rs368152533

NM_001909.5(CTSD):c.22925C>T

rs112184520

NM_001909.5(CTSD):c.231C>T (p.Ala77=)

rs2230067

NM_001909.5(CTSD):c.240C>T (p.Tyr80=)

rs147641822

NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)

rs199551387

NM_001909.5(CTSD):c.261G>A (p.Thr87=)

rs372181453

NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)

rs796052400

NM_001909.5(CTSD):c.267C>G (p.Pro89=)

rs139154882

NM_001909.5(CTSD):c.268dup (p.Gln90fs)

rs752612332

NM_001909.5(CTSD):c.270G>A (p.Gln90=)

rs587780915

NM_001909.5(CTSD):c.283G>A (p.Val95Ile)

rs141482597

NM_001909.5(CTSD):c.294G>A (p.Thr98=)

rs369373285

NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)

rs796052407

NM_001909.5(CTSD):c.352+10G>C

rs775828680

NM_001909.5(CTSD):c.352+42T>C

rs149907533

NM_001909.5(CTSD):c.352+48A>G

rs139068420

NM_001909.5(CTSD):c.35311G>A

rs372689713

NM_001909.5(CTSD):c.35312C>T

rs141523461

NM_001909.5(CTSD):c.35317C>T

rs7126177

NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)

rs796052401

NM_001909.5(CTSD):c.393C>T (p.Tyr131=)

rs776128996

NM_001909.5(CTSD):c.432G>A (p.Ser144=)

rs587780916

NM_001909.5(CTSD):c.443C>T (p.Ser148Phe)

rs796052402

NM_001909.5(CTSD):c.465T>C (p.Thr155=)

rs11555039

NM_001909.5(CTSD):c.471+15G>C

rs201413619

NM_001909.5(CTSD):c.47215T>C

rs758874267

NM_001909.5(CTSD):c.472161G>T

rs60582924

NM_001909.5(CTSD):c.47227G>T

rs146434428

NM_001909.5(CTSD):c.489G>A (p.Ala163=)

rs767476700

NM_001909.5(CTSD):c.492G>A (p.Ser164=)

rs577842448

NM_001909.5(CTSD):c.497C>T (p.Ala166Val)

rs796052396

NM_001909.5(CTSD):c.510C>T (p.Gly170=)

rs749196696

NM_001909.5(CTSD):c.52G>C (p.Ala18Pro)

rs796052403

NM_001909.5(CTSD):c.534C>G (p.Val178=)

rs758852382

NM_001909.5(CTSD):c.552G>A (p.Lys184=)

rs765849046

NM_001909.5(CTSD):c.561C>T (p.Gly187=)

rs796052405

NM_001909.5(CTSD):c.621C>A (p.Ser207=)

rs367978332

NM_001909.5(CTSD):c.627C>T (p.Asn209=)

rs772453588

NM_001909.5(CTSD):c.630C>T (p.Asn210=)

rs375282504

NM_001909.5(CTSD):c.636G>T (p.Leu212=)

rs567625495

NM_001909.5(CTSD):c.639C>G (p.Pro213=)

rs146073498

NM_001909.5(CTSD):c.653T>C (p.Leu218Pro)

rs1131691905

NM_001909.5(CTSD):c.68+10C>G

rs760082760

NM_001909.5(CTSD):c.68+10C>T

rs760082760

NM_001909.5(CTSD):c.68+251G>C

rs147731370

NM_001909.5(CTSD):c.6912C>T

rs764025297

NM_001909.5(CTSD):c.6916G>A

rs377703110

NM_001909.5(CTSD):c.6917C>A

rs371858126

NM_001909.5(CTSD):c.6917C>T

rs371858126

NM_001909.5(CTSD):c.6964C>T

rs116662058

NM_001909.5(CTSD):c.704+18C>T

rs371260793

NM_001909.5(CTSD):c.704+233G>A

rs2292962

NM_001909.5(CTSD):c.704+5G>A

rs1064796905

NM_001909.5(CTSD):c.704+6C>T

rs370847523

NM_001909.5(CTSD):c.7054C>T

rs1057521968

NM_001909.5(CTSD):c.70574C>T

rs2292963

NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)

rs763407972

NM_001909.5(CTSD):c.758A>G (p.Lys253Arg)

rs138191189

NM_001909.5(CTSD):c.76C>A (p.Leu26Met)

rs1029534680

NM_001909.5(CTSD):c.770G>C (p.Gly257Ala)

rs1057518289

NM_001909.5(CTSD):c.780C>T (p.Ser260=)

rs1404000220

NM_001909.5(CTSD):c.796C>T (p.Arg266Cys)

rs373621431

NM_001909.5(CTSD):c.7C>T (p.Pro3Ser)

rs952058991

NM_001909.5(CTSD):c.817C>T (p.His273Tyr)

rs145905196

NM_001909.5(CTSD):c.827+13T>C

rs369602025

NM_001909.5(CTSD):c.827+9T>A

rs757270638

NM_001909.5(CTSD):c.82814_82813del

rs796052395

NM_001909.5(CTSD):c.82818C>T

rs377228580

NM_001909.5(CTSD):c.82819A>C

rs200047861

NM_001909.5(CTSD):c.828247_828221del

rs1219998189

NM_001909.5(CTSD):c.8284G>A

rs371034011

NM_001909.5(CTSD):c.8285C>T

rs762444592

NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)

rs147278302

NM_001909.5(CTSD):c.846G>A (p.Gly282=)

rs112021026

NM_001909.5(CTSD):c.867C>T (p.Gly289=)

rs1200494428

NM_001909.5(CTSD):c.877A>C (p.Ile293Leu)

rs748185051

NM_001909.5(CTSD):c.89C>T (p.Thr30Met)

rs747274524

NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)

rs757712173

NM_001909.5(CTSD):c.90G>A (p.Thr30=)

rs368529527

NM_001909.5(CTSD):c.912G>A (p.Pro304=)

rs140238987

NM_001909.5(CTSD):c.924G>A (p.Val308=)

rs1554962286

NM_001909.5(CTSD):c.926G>A (p.Arg309His)

rs374540411

NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)

rs373699222

NM_001909.5(CTSD):c.945C>T (p.Ile315=)

rs752172496

NM_001909.5(CTSD):c.951C>T (p.Ala317=)

rs78306946

NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)

rs373170074

NM_001909.5(CTSD):c.957G>A (p.Pro319=)

rs369229897

NM_001909.5(CTSD):c.972+10G>A

rs531682785

NM_001909.5(CTSD):c.972+7G>A

rs371747998

NM_001909.5(CTSD):c.97314G>A

rs1354741089

NM_001909.5(CTSD):c.982C>G (p.Pro328Ala)

rs796052397
