COL2A1, 1BP DEL, EX40


COL2A1, 1BP DEL, EX50


COL2A1, IVS17, AG, 2


NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs)

rs1555168309

NM_001844.5(COL2A1):c.*120C>G

rs886049443

NM_001844.5(COL2A1):c.*131C>T

rs886049442

NM_001844.5(COL2A1):c.*136C>T

rs41272777

NM_001844.5(COL2A1):c.*158C>A

rs867067070

NM_001844.5(COL2A1):c.*28C>T

rs41272775

NM_001844.5(COL2A1):c.*295C>T

rs41272781

NM_001844.5(COL2A1):c.*305G>A

rs532700241

NM_001844.5(COL2A1):c.*331G>A


NM_001844.5(COL2A1):c.*373G>C


NM_001844.5(COL2A1):c.*406A>G

rs886049441

NM_001844.5(COL2A1):c.*4C>T

rs41272773

NM_001844.5(COL2A1):c.119C>T

rs3803182

NM_001844.5(COL2A1):c.15G>T

rs886049450

NM_001844.5(COL2A1):c.1023+3G>A

rs374570848

NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu)

rs886049448

NM_001844.5(COL2A1):c.1077C>G (p.Val359=)

rs202002349

NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)


NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)

rs1025202963

NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)

rs150865922

NM_001844.5(COL2A1):c.1266+7G>A

rs41317915

NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)

rs35012272

NM_001844.5(COL2A1):c.12C>T (p.Leu4=)

rs886049449

NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)

rs140985224

NM_001844.5(COL2A1):c.136611C>T

rs10875714

NM_001844.5(COL2A1):c.136613C>A

rs200984998

NM_001844.5(COL2A1):c.1452C>T (p.Pro484=)

rs755093756

NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)

rs768110640

NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)

rs41317925

NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)

rs1246771678

NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)

rs145042175

NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)

rs186233557

NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)

rs756360655

NM_001844.5(COL2A1):c.1680+1G>A

rs1057524696

NM_001844.5(COL2A1):c.1680+8G>T

rs754310324

NM_001844.5(COL2A1):c.1680+9C>A

rs371857655

NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)

rs121912884

NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp)

rs369359592

NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)


NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)

rs41317939

NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)

rs41263847

NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)

rs368641858

NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)

rs121912893

NM_001844.5(COL2A1):c.195C>T (p.Asp65=)

rs202210896

NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)

rs1269619781

NM_001844.5(COL2A1):c.1995+5G>A


NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)

rs121912885

NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)

rs1565679039

NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)

rs41263851

NM_001844.5(COL2A1):c.2049+1G>A

rs1555166658

NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)


NM_001844.5(COL2A1):c.2094+12G>C

rs17122510

NM_001844.5(COL2A1):c.2094+7A>G

rs17801742

NM_001844.5(COL2A1):c.20954G>A

rs111570218

NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)

rs1555166555

NM_001844.5(COL2A1):c.2130C>T (p.Pro710=)

rs35656892

NM_001844.5(COL2A1):c.213C>T (p.Asp71=)

rs112469769

NM_001844.5(COL2A1):c.2163C>T (p.Leu721=)

rs141375467

NM_001844.5(COL2A1):c.219455T>C

rs3829737

NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)

rs751436440

NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)

rs371835359

NM_001844.5(COL2A1):c.2295C>T (p.Gly765=)

rs2276454

NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)

rs35504014

NM_001844.5(COL2A1):c.2355+2del

rs1555166295

NM_001844.5(COL2A1):c.2381del (p.Pro794fs)

rs1555166218

NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)

rs1635553

NM_001844.5(COL2A1):c.241011C>T

rs886049447

NM_001844.5(COL2A1):c.241013T>G


NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)


NM_001844.5(COL2A1):c.246C>T (p.Phe82=)

rs142161948

NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)

rs1793940

NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)

rs141423593

NM_001844.5(COL2A1):c.2594del (p.Pro865fs)


NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)

rs1592206729

NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)

rs3803183

NM_001844.5(COL2A1):c.2625+9C>T

rs41272027

NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)


NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)

rs41272029

NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)


NM_001844.5(COL2A1):c.2679+1G>A

rs1592205758

NM_001844.5(COL2A1):c.2679+69dup

rs11443755

NM_001844.5(COL2A1):c.26809C>T

rs369022247

NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)

rs121912866

NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)


NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)

rs1057524114

NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)

rs533540496

NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)

rs140740708

NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)

rs1592202517

NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)


NM_001844.5(COL2A1):c.2949C>T (p.Val983=)

rs201719788

NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)

rs1793947

NM_001844.5(COL2A1):c.3003+9G>A

rs200403247

NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)

rs753342774

NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)

rs146046296

NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=)

rs1793948

NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)

rs748459670

NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)

rs367982631

NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)

rs121912873

NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)

rs41272041

NM_001844.5(COL2A1):c.3165+2_316684del


NM_001844.5(COL2A1):c.31661G>A

rs1555165204

NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala)

rs886049446

NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)


NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)


NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)

rs886043356

NM_001844.5(COL2A1):c.3327+3G>A

rs192229438

NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)

rs145884117

NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)

rs745633496

NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)

rs374156023

NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)


NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=)

rs34613777

NM_001844.5(COL2A1):c.35981G>A

rs1592196867

NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala)

rs1555164786

NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)

rs1592196744

NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr)

rs886049445

NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)


NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)


NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)

rs200993187

NM_001844.5(COL2A1):c.3731del (p.Ala1244fs)

rs1555164735

NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)

rs147569641

NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)

rs139114389

NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys)

rs886049444

NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)


NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile)

rs12721427

NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)

rs201646745

NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=)

rs17122498

NM_001844.5(COL2A1):c.4074+12G>T


NM_001844.5(COL2A1):c.407514C>G

rs12721425

NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)


NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)

rs12721379

NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)

rs150237416

NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)

rs778382364

NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser)

rs2070739

NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)

rs537186508

NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)

rs754466377

NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp)

rs34392760

NM_001844.5(COL2A1):c.4317+9G>C


NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)

rs1481212897

NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)

rs200214562

NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)


NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)

rs148838496

NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)


NM_001844.5(COL2A1):c.491del (p.Pro164fs)

rs1592235241

NM_001844.5(COL2A1):c.504C>A (p.Gly168=)

rs3737548

NM_001844.5(COL2A1):c.507C>T (p.Pro169=)

rs143851987

NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg)


NM_001844.5(COL2A1):c.512G>T (p.Gly171Val)


NM_001844.5(COL2A1):c.5323C>A

rs755887776

NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)

rs201817670

NM_001844.5(COL2A1):c.580_581del (p.Ala194fs)

rs1592233968

NM_001844.5(COL2A1):c.609+4del

rs1555168965

NM_001844.5(COL2A1):c.61017_617del


NM_001844.5(COL2A1):c.6107G>A

rs7967258

NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)

rs121912869

NM_001844.5(COL2A1):c.654+15T>G

rs1034762

NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)

rs1131691822

NM_001844.5(COL2A1):c.708+14C>T


NM_001844.5(COL2A1):c.708+8C>T

rs41317893

NM_001844.5(COL2A1):c.7092A>G

rs1592232116

NM_001844.5(COL2A1):c.7098G>T

rs200757693

NM_001844.5(COL2A1):c.711T>A (p.Gly237=)


NM_001844.5(COL2A1):c.762+15G>A

rs10875716

NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)


NM_001844.5(COL2A1):c.798G>A (p.Arg266=)

rs376753701

NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)

rs142770543

NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)

rs121912876

NM_001844.5(COL2A1):c.85+10C>G

rs769941617

NM_001844.5(COL2A1):c.924+14A>C

