ClinVar Miner

List of variants in gene COL11A2

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ClinVar version:
Total variants: 406
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HGVS dbSNP
COL11A2, 9-BP DEL, NT2899
COL11A2, IVS18, 1-BP INS, +3
NC_000006.12:g.33163768C>A
NC_000006.12:g.33165754C>T
NC_000006.12:g.33170693del
NC_000006.12:g.33171170G>A
NC_000006.12:g.33174012G>A
NC_000006.12:g.33176295G>A
NC_000006.12:g.33178704C>T
NC_000006.12:g.33189446G>A
NC_000006.12:g.33192648G>T
NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_001163771.2(COL11A2):c.865C>T (p.Pro289Ser) rs772701006
NM_080679.2(COL11A2):c.*119G>A rs183458493
NM_080679.2(COL11A2):c.*128C>G rs528560777
NM_080679.2(COL11A2):c.*248C>A rs886061314
NM_080679.2(COL11A2):c.*439C>A rs886061313
NM_080679.2(COL11A2):c.*4C>T rs186720023
NM_080679.2(COL11A2):c.*536C>T rs886061312
NM_080679.2(COL11A2):c.*544C>G rs199956729
NM_080679.2(COL11A2):c.*706G>T rs548143581
NM_080679.2(COL11A2):c.*822C>G rs536130072
NM_080679.2(COL11A2):c.*925G>A rs117470046
NM_080679.2(COL11A2):c.-174C>A rs138299820
NM_080679.2(COL11A2):c.-200G>A rs144092339
NM_080679.2(COL11A2):c.-21C>G rs767695417
NM_080679.2(COL11A2):c.-226C>T rs886061320
NM_080679.2(COL11A2):c.-44G>A rs750744838
NM_080679.2(COL11A2):c.-92A>G rs886061319
NM_080679.2(COL11A2):c.1038+17del rs765250820
NM_080679.2(COL11A2):c.1039-7A>C rs3129201
NM_080679.2(COL11A2):c.1042C>T (p.Arg348Trp) rs144862714
NM_080679.2(COL11A2):c.1049G>A (p.Gly350Asp) rs1554221493
NM_080679.2(COL11A2):c.1059G>A (p.Gly353=) rs373168555
NM_080679.2(COL11A2):c.1060G>T (p.Gly354Cys) rs764998691
NM_080679.2(COL11A2):c.1061G>A (p.Gly354Asp) rs141140798
NM_080679.2(COL11A2):c.1074T>G (p.Pro358=) rs1554221471
NM_080679.2(COL11A2):c.109G>T (p.Ala37Ser) rs606231410
NM_080679.2(COL11A2):c.1106C>A (p.Ala369Glu) rs373983482
NM_080679.2(COL11A2):c.1106C>T (p.Ala369Val) rs373983482
NM_080679.2(COL11A2):c.1125+19C>T
NM_080679.2(COL11A2):c.1130C>T (p.Ala377Val) rs143965711
NM_080679.2(COL11A2):c.1158A>T (p.Gly386=) rs1554221287
NM_080679.2(COL11A2):c.1168C>T (p.Arg390Cys) rs752552097
NM_080679.2(COL11A2):c.1177C>T (p.Pro393Ser)
NM_080679.2(COL11A2):c.1203C>T (p.Gly401=) rs1465511059
NM_080679.2(COL11A2):c.1236+19T>C rs374716901
NM_080679.2(COL11A2):c.1236+5C>T rs771087374
NM_080679.2(COL11A2):c.1286G>A (p.Arg429Gln) rs770888294
NM_080679.2(COL11A2):c.1291-10G>C rs182657680
NM_080679.2(COL11A2):c.1291-16T>A
NM_080679.2(COL11A2):c.1294C>T (p.Arg432Trp) rs145499142
NM_080679.2(COL11A2):c.12C>T (p.Cys4=) rs914781832
NM_080679.2(COL11A2):c.1316G>A (p.Arg439Gln) rs199866657
NM_080679.2(COL11A2):c.1344+15C>A rs781663197
NM_080679.2(COL11A2):c.1344+17C>T
NM_080679.2(COL11A2):c.1345-11CCT[2] rs147815324
NM_080679.2(COL11A2):c.1345-9T>G rs181999673
NM_080679.2(COL11A2):c.1357T>G (p.Phe453Val) rs876657764
NM_080679.2(COL11A2):c.136G>A (p.Gly46Ser) rs886044564
NM_080679.2(COL11A2):c.1395T>C (p.His465=) rs533884328
NM_080679.2(COL11A2):c.1398+19G>A rs752762822
NM_080679.2(COL11A2):c.1398+3dup rs1554220864
NM_080679.2(COL11A2):c.1399-4G>T rs369678506
NM_080679.2(COL11A2):c.1453-9C>T rs148243956
NM_080679.2(COL11A2):c.1461C>T (p.Asp487=) rs41266697
NM_080679.2(COL11A2):c.1485G>A (p.Leu495=)
NM_080679.2(COL11A2):c.1496C>G (p.Ser499Trp) rs147328015
NM_080679.2(COL11A2):c.1496C>T (p.Ser499Leu) rs147328015
NM_080679.2(COL11A2):c.1497+15G>A rs549588854
NM_080679.2(COL11A2):c.1497+42G>A
NM_080679.2(COL11A2):c.1498-10G>A rs3129202
NM_080679.2(COL11A2):c.1498-18_1498-9del rs767645840
NM_080679.2(COL11A2):c.1530A>G (p.Pro510=) rs768060130
NM_080679.2(COL11A2):c.1540C>A (p.Pro514Thr) rs121912952
NM_080679.2(COL11A2):c.1551+5G>A rs727504891
NM_080679.2(COL11A2):c.1552-14A>G rs149099562
NM_080679.2(COL11A2):c.1554C>T (p.Gly518=) rs141815296
NM_080679.2(COL11A2):c.1558C>T (p.Arg520Ter) rs374156844
NM_080679.2(COL11A2):c.1559G>A (p.Arg520Gln) rs528989984
NM_080679.2(COL11A2):c.1596+70G>T
NM_080679.2(COL11A2):c.1647C>T (p.Thr549=) rs766534015
NM_080679.2(COL11A2):c.1650+12C>T rs201383281
NM_080679.2(COL11A2):c.1650+20C>T
NM_080679.2(COL11A2):c.1651-16C>T rs117435723
NM_080679.2(COL11A2):c.1659C>T (p.Pro553=) rs2229786
NM_080679.2(COL11A2):c.1660G>A (p.Gly554Arg) rs121912945
NM_080679.2(COL11A2):c.1696-5T>G rs200523422
NM_080679.2(COL11A2):c.1733G>C (p.Gly578Ala) rs757431548
NM_080679.2(COL11A2):c.1743A>G (p.Gly581=) rs753871660
NM_080679.2(COL11A2):c.1744C>T (p.Pro582Ser) rs766440021
NM_080679.2(COL11A2):c.1748C>T (p.Pro583Leu) rs144992893
NM_080679.2(COL11A2):c.1760_1764delinsA (p.Gly587fs) rs886044584
NM_080679.2(COL11A2):c.1764G>A (p.Lys588=)
NM_080679.2(COL11A2):c.1778G>C (p.Gly593Ala) rs558103710
NM_080679.2(COL11A2):c.1794+32G>T
NM_080679.2(COL11A2):c.1794+7T>C rs186051366
NM_080679.2(COL11A2):c.1795-8T>C
NM_080679.2(COL11A2):c.1815A>C (p.Gly605=) rs1799908
NM_080679.2(COL11A2):c.1815A>T (p.Gly605=) rs1799908
NM_080679.2(COL11A2):c.1848+5C>T rs794727446
NM_080679.2(COL11A2):c.1852G>A (p.Val618Met) rs1554219686
NM_080679.2(COL11A2):c.1858G>T (p.Gly620Ter) rs768569721
NM_080679.2(COL11A2):c.1861A>T (p.Ile621Phe) rs188490457
NM_080679.2(COL11A2):c.1865G>A (p.Arg622Gln) rs61730262
NM_080679.2(COL11A2):c.1866G>C (p.Arg622=)
NM_080679.2(COL11A2):c.1893+19G>A rs370515541
NM_080679.2(COL11A2):c.1893+88G>C
NM_080679.2(COL11A2):c.1894-11A>G rs557236389
NM_080679.2(COL11A2):c.1894-9C>G rs373659846
NM_080679.2(COL11A2):c.1899G>A (p.Glu633=) rs202032297
NM_080679.2(COL11A2):c.190C>T (p.Arg64Ter) rs1554226209
NM_080679.2(COL11A2):c.1933G>A (p.Val645Met)
NM_080679.2(COL11A2):c.1947+1G>T rs797044915
NM_080679.2(COL11A2):c.1947+37T>C
NM_080679.2(COL11A2):c.1947+8G>A rs373463428
NM_080679.2(COL11A2):c.1950C>T (p.Gly650=) rs745568808
NM_080679.2(COL11A2):c.1974G>T (p.Arg658Ser) rs962608488
NM_080679.2(COL11A2):c.1979A>G (p.Glu660Gly) rs775641112
NM_080679.2(COL11A2):c.2015C>T (p.Pro672Leu) rs150877886
NM_080679.2(COL11A2):c.2095C>T (p.Arg699Cys) rs376355040
NM_080679.2(COL11A2):c.2102G>A (p.Gly701Glu) rs121912948
NM_080679.2(COL11A2):c.2109+15C>T rs1471667955
NM_080679.2(COL11A2):c.2109+19C>T rs764083806
NM_080679.2(COL11A2):c.2109+51G>C
NM_080679.2(COL11A2):c.2110-11G>A rs368695514
NM_080679.2(COL11A2):c.2110-18del rs9280359
NM_080679.2(COL11A2):c.2163+13del rs55730247
NM_080679.2(COL11A2):c.2163+22C>G rs2744512
NM_080679.2(COL11A2):c.2171C>A (p.Ser724Ter) rs121912949
NM_080679.2(COL11A2):c.2174G>A (p.Gly725Glu) rs750006299
NM_080679.2(COL11A2):c.2199G>A (p.Arg733=) rs117237998
NM_080679.2(COL11A2):c.2208+13del rs763299239
NM_080679.2(COL11A2):c.2215C>T (p.Arg739Trp) rs149071920
NM_080679.2(COL11A2):c.2234G>A (p.Arg745Gln) rs147927477
NM_080679.2(COL11A2):c.2239G>A (p.Ala747Thr) rs371864924
NM_080679.2(COL11A2):c.2262+1G>A rs1554218503
NM_080679.2(COL11A2):c.2263-10C>T rs886043444
NM_080679.2(COL11A2):c.2263-5del rs555657704
NM_080679.2(COL11A2):c.2268A>C (p.Thr756=) rs1398934546
NM_080679.2(COL11A2):c.2307+14G>A rs559123089
NM_080679.2(COL11A2):c.2307+3G>A rs970901
NM_080679.2(COL11A2):c.2308-20dup rs727502942
NM_080679.2(COL11A2):c.2308-57G>A
NM_080679.2(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080679.2(COL11A2):c.2316T>C (p.Pro772=)
NM_080679.2(COL11A2):c.232+19G>A rs766263650
NM_080679.2(COL11A2):c.233-8G>T rs375268140
NM_080679.2(COL11A2):c.2341C>A (p.Pro781Thr) rs864309523
NM_080679.2(COL11A2):c.2360C>T (p.Pro787Leu) rs2855430
NM_080679.2(COL11A2):c.2361+26A>C rs9277932
NM_080679.2(COL11A2):c.2361G>A (p.Pro787=) rs113067047
NM_080679.2(COL11A2):c.2363G>C (p.Gly788Ala) rs555936455
NM_080679.2(COL11A2):c.2372G>A (p.Gly791Glu) rs727502941
NM_080679.2(COL11A2):c.2379T>C (p.Asp793=) rs2229785
NM_080679.2(COL11A2):c.2388G>A (p.Pro796=) rs779878105
NM_080679.2(COL11A2):c.2409A>G (p.Gly803=) rs1554218154
NM_080679.2(COL11A2):c.2414T>C (p.Val805Ala) rs548592690
NM_080679.2(COL11A2):c.2416-93T>C
NM_080679.2(COL11A2):c.2433del (p.Gly812fs) rs1562336726
NM_080679.2(COL11A2):c.2436C>T (p.Gly812=) rs34478777
NM_080679.2(COL11A2):c.2437C>A (p.Pro813Thr) rs727502940
NM_080679.2(COL11A2):c.2440C>T (p.Pro814Ser) rs1416503874
NM_080679.2(COL11A2):c.2476G>A (p.Ala826Thr) rs886043811
NM_080679.2(COL11A2):c.2487C>T (p.Thr829=) rs775487504
NM_080679.2(COL11A2):c.2488G>A (p.Gly830Ser) rs993223370
NM_080679.2(COL11A2):c.2501_2527del (p.Glu834_Pro843delinsAla) rs864309477
NM_080679.2(COL11A2):c.2520C>T (p.Pro840=) rs565891154
NM_080679.2(COL11A2):c.2527C>T (p.Pro843Ser) rs768902062
NM_080679.2(COL11A2):c.2549C>T (p.Pro850Leu) rs1554217670
NM_080679.2(COL11A2):c.2578-9del rs397517477
NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val) rs376797260
NM_080679.2(COL11A2):c.2607G>A (p.Gly869=) rs147004824
NM_080679.2(COL11A2):c.2611G>A (p.Asp871Asn) rs772537556
NM_080679.2(COL11A2):c.2662A>G (p.Thr888Ala) rs1554217436
NM_080679.2(COL11A2):c.2667+14C>G rs1554217416
NM_080679.2(COL11A2):c.2667+57A>C
NM_080679.2(COL11A2):c.2710C>G (p.Pro904Ala) rs997533180
NM_080679.2(COL11A2):c.2722-10G>A
NM_080679.2(COL11A2):c.2722-65T>C
NM_080679.2(COL11A2):c.2737C>T (p.Arg913Ter) rs911722283
NM_080679.2(COL11A2):c.2771C>T (p.Pro924Leu) rs528009333
NM_080679.2(COL11A2):c.2779C>T (p.Arg927Cys) rs121912947
NM_080679.2(COL11A2):c.2790G>A (p.Pro930=) rs146093235
NM_080679.2(COL11A2):c.2790G>T (p.Pro930=) rs146093235
NM_080679.2(COL11A2):c.2795G>T (p.Gly932Val) rs1554216943
NM_080679.2(COL11A2):c.2797C>G (p.Pro933Ala) rs759919085
NM_080679.2(COL11A2):c.2821G>A (p.Gly941Ser) rs1057524643
NM_080679.2(COL11A2):c.2829+15A>C rs2855436
NM_080679.2(COL11A2):c.2852C>T (p.Pro951Leu) rs562253142
NM_080679.2(COL11A2):c.2853G>A (p.Pro951=) rs1799910
NM_080679.2(COL11A2):c.2861G>A (p.Arg954Gln) rs528982644
NM_080679.2(COL11A2):c.2876_2881dup (p.Gly959_Pro960dup) rs1554216723
NM_080679.2(COL11A2):c.2937+60C>G
NM_080679.2(COL11A2):c.2946G>A (p.Val982=) rs781462105
NM_080679.2(COL11A2):c.2968A>C (p.Thr990Pro) rs138045609
NM_080679.2(COL11A2):c.2992-11C>T rs2855437
NM_080679.2(COL11A2):c.2992-20_2992-17del rs574904915
NM_080679.2(COL11A2):c.3004C>T (p.Pro1002Ser) rs761687232
NM_080679.2(COL11A2):c.3007C>T (p.Pro1003Ser) rs141164483
NM_080679.2(COL11A2):c.3031C>A (p.Gln1011Lys) rs369849667
NM_080679.2(COL11A2):c.3045+21del rs764291451
NM_080679.2(COL11A2):c.3046-53del
NM_080679.2(COL11A2):c.3049G>A (p.Ala1017Thr) rs886061316
NM_080679.2(COL11A2):c.3060G>C (p.Glu1020Asp) rs768988213
NM_080679.2(COL11A2):c.3063C>T (p.Pro1021=) rs1799911
NM_080679.2(COL11A2):c.3153+89A>G
NM_080679.2(COL11A2):c.3154-19G>A
NM_080679.2(COL11A2):c.3159G>T (p.Leu1053Phe) rs927537693
NM_080679.2(COL11A2):c.3207+8_3207+9del rs1343647230
NM_080679.2(COL11A2):c.3208-3C>T rs753183777
NM_080679.2(COL11A2):c.3208-44A>G
NM_080679.2(COL11A2):c.3210A>C (p.Gly1070=) rs530771165
NM_080679.2(COL11A2):c.3210A>G (p.Gly1070=) rs530771165
NM_080679.2(COL11A2):c.3222C>T (p.Pro1074=) rs1554215751
NM_080679.2(COL11A2):c.3235G>A (p.Gly1079Ser) rs876657765
NM_080679.2(COL11A2):c.324T>C (p.Gly108=) rs935876736
NM_080679.2(COL11A2):c.3255C>T (p.Gly1085=) rs138380958
NM_080679.2(COL11A2):c.3261+88A>G
NM_080679.2(COL11A2):c.3262-3C>T rs727502939
NM_080679.2(COL11A2):c.3262-5T>C rs183536190
NM_080679.2(COL11A2):c.3294C>A (p.Asn1098Lys) rs141967872
NM_080679.2(COL11A2):c.3295C>T (p.Leu1099=) rs147576338
NM_080679.2(COL11A2):c.329G>A (p.Arg110Gln) rs145960317
NM_080679.2(COL11A2):c.3301C>T (p.Pro1101Ser) rs374515005
NM_080679.2(COL11A2):c.3315+74G>C
NM_080679.2(COL11A2):c.3316-19G>T rs1427818109
NM_080679.2(COL11A2):c.3316-66G>A
NM_080679.2(COL11A2):c.3333A>G (p.Ser1111=) rs146962984
NM_080679.2(COL11A2):c.3341C>T (p.Pro1114Leu) rs1562323483
NM_080679.2(COL11A2):c.3358C>T (p.Pro1120Ser) rs142500487
NM_080679.2(COL11A2):c.3369+9C>T
NM_080679.2(COL11A2):c.3378C>T (p.Arg1126=) rs151098305
NM_080679.2(COL11A2):c.338G>T (p.Gly113Val) rs199946338
NM_080679.2(COL11A2):c.339_340delinsG (p.Leu114fs) rs1554225999
NM_080679.2(COL11A2):c.3404C>T (p.Ser1135Leu) rs534570825
NM_080679.2(COL11A2):c.3477+99G>A
NM_080679.2(COL11A2):c.3478-9C>G rs762361602
NM_080679.2(COL11A2):c.3510C>T (p.Pro1170=) rs1007732519
NM_080679.2(COL11A2):c.3529C>T (p.Arg1177Trp) rs886061315
NM_080679.2(COL11A2):c.3531+94C>T
NM_080679.2(COL11A2):c.3532-39G>A
NM_080679.2(COL11A2):c.3539A>G (p.Asp1180Gly) rs142962835
NM_080679.2(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080679.2(COL11A2):c.3556C>T (p.Arg1186Ter) rs746754428
NM_080679.2(COL11A2):c.3557G>A (p.Arg1186Gln) rs727504832
NM_080679.2(COL11A2):c.3562G>A (p.Glu1188Lys) rs758507327
NM_080679.2(COL11A2):c.3611A>G (p.Asn1204Ser) rs727504460
NM_080679.2(COL11A2):c.361C>T (p.Arg121Cys) rs553025178
NM_080679.2(COL11A2):c.3624G>A (p.Gly1208=) rs1321962760
NM_080679.2(COL11A2):c.3625C>A (p.Pro1209Thr) rs2229784
NM_080679.2(COL11A2):c.3629T>C (p.Leu1210Pro) rs145871842
NM_080679.2(COL11A2):c.3639+235G>A
NM_080679.2(COL11A2):c.3653C>T (p.Ser1218Leu) rs543145528
NM_080679.2(COL11A2):c.3654G>A (p.Ser1218=)
NM_080679.2(COL11A2):c.3670C>T (p.Arg1224Ter) rs121912951
NM_080679.2(COL11A2):c.3678A>G (p.Gly1226=)
NM_080679.2(COL11A2):c.3678_3679delinsGC (p.Gly1227Arg) rs797044765
NM_080679.2(COL11A2):c.3679G>C (p.Gly1227Arg) rs200574827
NM_080679.2(COL11A2):c.3694-81G>A
NM_080679.2(COL11A2):c.3694-82T>C
NM_080679.2(COL11A2):c.3694-8T>C rs377001136
NM_080679.2(COL11A2):c.3705C>T (p.Gly1235=) rs778423110
NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln) rs142890313
NM_080679.2(COL11A2):c.3719C>T (p.Pro1240Leu) rs142890313
NM_080679.2(COL11A2):c.3720G>A (p.Pro1240=) rs139283268
NM_080679.2(COL11A2):c.3734C>T (p.Pro1245Leu) rs763995767
NM_080679.2(COL11A2):c.3759G>A (p.Gly1253=) rs537455619
NM_080679.2(COL11A2):c.3814C>T (p.Arg1272Ter) rs121912950
NM_080679.2(COL11A2):c.3828A>G (p.Thr1276=) rs746019545
NM_080679.2(COL11A2):c.3869T>G (p.Leu1290Arg) rs571981688
NM_080679.2(COL11A2):c.3885C>T (p.Gly1295=) rs201642192
NM_080679.2(COL11A2):c.388C>T (p.Arg130Trp) rs144363465
NM_080679.2(COL11A2):c.3899del (p.Lys1300fs) rs1562312539
NM_080679.2(COL11A2):c.3909+13C>G rs200051654
NM_080679.2(COL11A2):c.390G>C (p.Arg130=) rs149638770
NM_080679.2(COL11A2):c.3944C>T (p.Pro1315Leu) rs555936333
NM_080679.2(COL11A2):c.3970C>T (p.Arg1324Trp) rs369126897
NM_080679.2(COL11A2):c.4001G>A (p.Gly1334Glu) rs121912946
NM_080679.2(COL11A2):c.4017+19C>A rs1554212804
NM_080679.2(COL11A2):c.4018-49G>T
NM_080679.2(COL11A2):c.4023C>A (p.Ile1341=)
NM_080679.2(COL11A2):c.4035C>T (p.Ser1345=) rs199515114
NM_080679.2(COL11A2):c.4048C>T (p.Pro1350Ser) rs1562310536
NM_080679.2(COL11A2):c.4062C>T (p.Pro1354=) rs148262058
NM_080679.2(COL11A2):c.4071+12C>T rs117267045
NM_080679.2(COL11A2):c.4071+1G>A rs750995470
NM_080679.2(COL11A2):c.4072-28C>T
NM_080679.2(COL11A2):c.4109G>T (p.Gly1370Val) rs745434198
NM_080679.2(COL11A2):c.4137T>A (p.Gly1379=) rs143186319
NM_080679.2(COL11A2):c.4161G>A (p.Pro1387=) rs142586242
NM_080679.2(COL11A2):c.4174G>A (p.Glu1392Lys) rs727504543
NM_080679.2(COL11A2):c.4200G>A (p.Gln1400=) rs114580597
NM_080679.2(COL11A2):c.4238G>A (p.Arg1413His) rs772567850
NM_080679.2(COL11A2):c.4265C>T (p.Pro1422Leu) rs201315111
NM_080679.2(COL11A2):c.4269C>T (p.Thr1423=) rs375329541
NM_080679.2(COL11A2):c.4289C>T (p.Pro1430Leu) rs1554212071
NM_080679.2(COL11A2):c.4320C>T (p.Leu1440=) rs758306963
NM_080679.2(COL11A2):c.4330C>T (p.Arg1444Trp) rs141254777
NM_080679.2(COL11A2):c.4331G>A (p.Arg1444Gln) rs145343609
NM_080679.2(COL11A2):c.4341C>T (p.Ile1447=) rs375518774
NM_080679.2(COL11A2):c.4354C>T (p.Arg1452Trp) rs370966667
NM_080679.2(COL11A2):c.4355G>A (p.Arg1452Gln) rs774845879
NM_080679.2(COL11A2):c.4362A>G (p.Thr1454=) rs34055850
NM_080679.2(COL11A2):c.4368C>T (p.Thr1456=) rs1057523656
NM_080679.2(COL11A2):c.4384C>T (p.Arg1462Cys) rs727504458
NM_080679.2(COL11A2):c.4429+19G>T rs1046161149
NM_080679.2(COL11A2):c.4429+286C>T
NM_080679.2(COL11A2):c.4430-9A>G rs555680585
NM_080679.2(COL11A2):c.4434G>C (p.Glu1478Asp) rs140553708
NM_080679.2(COL11A2):c.4446C>T (p.Asp1482=) rs886044178
NM_080679.2(COL11A2):c.4465C>T (p.Arg1489Trp) rs778962979
NM_080679.2(COL11A2):c.4478G>A (p.Arg1493Gln) rs1799912
NM_080679.2(COL11A2):c.4500A>C (p.Ala1500=)
NM_080679.2(COL11A2):c.4533C>G (p.Asp1511Glu) rs151319255
NM_080679.2(COL11A2):c.453T>C (p.Arg151=) rs147115504
NM_080679.2(COL11A2):c.4542+7G>A rs200947059
NM_080679.2(COL11A2):c.4543-32_4543-7del
NM_080679.2(COL11A2):c.4543-64C>T
NM_080679.2(COL11A2):c.4543-88C>T
NM_080679.2(COL11A2):c.4551C>T (p.Tyr1517=) rs372250466
NM_080679.2(COL11A2):c.4563G>C (p.Glu1521Asp) rs2229790
NM_080679.2(COL11A2):c.4603C>G (p.Leu1535Val) rs770715075
NM_080679.2(COL11A2):c.4622A>T (p.His1541Leu) rs1487325262
NM_080679.2(COL11A2):c.4629C>T (p.Asp1543=) rs372110441
NM_080679.2(COL11A2):c.4630G>A (p.Val1544Ile) rs766589324
NM_080679.2(COL11A2):c.4638C>T (p.Tyr1546=) rs140017436
NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) rs146555195
NM_080679.2(COL11A2):c.4750-10C>T rs771886624
NM_080679.2(COL11A2):c.4750-5T>G rs368309085
NM_080679.2(COL11A2):c.4750-7C>G rs200548977
NM_080679.2(COL11A2):c.4762C>T (p.Arg1588Trp) rs534700620
NM_080679.2(COL11A2):c.4763G>A (p.Arg1588Gln) rs781633250
NM_080679.2(COL11A2):c.4767G>A (p.Thr1589=) rs142893093
NM_080679.2(COL11A2):c.4785G>A (p.Thr1595=) rs752823488
NM_080679.2(COL11A2):c.480T>G (p.Ser160=) rs142969513
NM_080679.2(COL11A2):c.4829A>T (p.Asp1610Val) rs1554210895
NM_080679.2(COL11A2):c.4831C>A (p.Leu1611Met) rs1413052565
NM_080679.2(COL11A2):c.4839C>G (p.Ala1613=) rs139647701
NM_080679.2(COL11A2):c.4844C>T (p.Pro1615Leu) rs2229792
NM_080679.2(COL11A2):c.4845G>A (p.Pro1615=) rs768399249
NM_080679.2(COL11A2):c.4849C>T (p.Arg1617Trp) rs762351406
NM_080679.2(COL11A2):c.517C>T (p.Arg173Trp) rs146522169
NM_080679.2(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
NM_080679.2(COL11A2):c.539G>A (p.Arg180His) rs142462583
NM_080679.2(COL11A2):c.544G>A (p.Val182Ile) rs375937729
NM_080679.2(COL11A2):c.579C>T (p.Ala193=)
NM_080679.2(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080679.2(COL11A2):c.5A>G (p.Glu2Gly) rs568840295
NM_080679.2(COL11A2):c.606+11C>T
NM_080679.2(COL11A2):c.628A>G (p.Ile210Val) rs778295133
NM_080679.2(COL11A2):c.654T>A (p.Tyr218Ter) rs786205578
NM_080679.2(COL11A2):c.678G>A (p.Leu226=) rs1477141287
NM_080679.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080679.2(COL11A2):c.752A>T (p.Gln251Leu) rs201399429
NM_080679.2(COL11A2):c.789C>T (p.Pro263=) rs1480123800
NM_080679.2(COL11A2):c.798+1054T>C
NM_080679.2(COL11A2):c.798+1282G>C
NM_080679.2(COL11A2):c.798+1539C>T
NM_080679.2(COL11A2):c.798+1569T>A rs1799907
NM_080679.2(COL11A2):c.798+1578C>T
NM_080679.2(COL11A2):c.798+1585G>A rs139116571
NM_080679.2(COL11A2):c.798+1635G>C rs886061317
NM_080679.2(COL11A2):c.798+1636G>A rs750173113
NM_080679.2(COL11A2):c.798+1643T>C rs1554223902
NM_080679.2(COL11A2):c.798+2323dup rs748440351
NM_080679.2(COL11A2):c.798+2329C>A rs147527758
NM_080679.2(COL11A2):c.798+2345C>T rs1554223504
NM_080679.2(COL11A2):c.798+2368T>A rs1288780147
NM_080679.2(COL11A2):c.798+2461G>A rs73741539
NM_080679.2(COL11A2):c.798+2483G>C rs367706373
NM_080679.2(COL11A2):c.798+2496G>A rs1554223383
NM_080679.2(COL11A2):c.798+2524G>T
NM_080679.2(COL11A2):c.798+38C>A rs200989046
NM_080679.2(COL11A2):c.798+571T>C
NM_080679.2(COL11A2):c.798+836C>T rs876657443
NM_080679.2(COL11A2):c.798+845C>A rs111227109
NM_080679.2(COL11A2):c.798+858_798+863delinsATTGGGCTCG rs1554224412
NM_080679.2(COL11A2):c.798+863C>T
NM_080679.2(COL11A2):c.798+876G>A rs9277934
NM_080679.2(COL11A2):c.798+880C>A rs886061318
NM_080679.2(COL11A2):c.798+894G>A rs146432857
NM_080679.2(COL11A2):c.798+904C>T rs747064765
NM_080679.2(COL11A2):c.798+957C>T
NM_080679.2(COL11A2):c.815G>A (p.Arg272Gln) rs150429851
NM_080679.2(COL11A2):c.83-55A>T
NM_080679.2(COL11A2):c.840G>T (p.Glu280Asp)
NM_080679.2(COL11A2):c.857C>T (p.Pro286Leu) rs140266192
NM_080679.2(COL11A2):c.858+10G>A rs2744507
NM_080679.2(COL11A2):c.858+8A>T rs773318336
NM_080679.2(COL11A2):c.859-4A>G rs1554221961
NM_080679.2(COL11A2):c.860G>A (p.Gly287Asp) rs1554221958
NM_080679.2(COL11A2):c.867C>T (p.Leu289=) rs532305958
NM_080679.2(COL11A2):c.887C>T (p.Pro296Leu) rs201179101
NM_080679.2(COL11A2):c.900G>A (p.Ala300=) rs1554221935
NM_080679.2(COL11A2):c.915C>G (p.Pro305=) rs541288921
NM_080679.2(COL11A2):c.91C>T (p.Pro31Ser) rs1554226286
NM_080679.2(COL11A2):c.939C>T (p.Gly313=) rs779224706
NM_080679.2(COL11A2):c.963+15T>C rs1057524527
NM_080679.2(COL11A2):c.963+8G>A rs1161495896
NM_080679.2(COL11A2):c.964-58A>G
NM_080679.2(COL11A2):c.966C>T (p.Gly322=) rs549704545
NM_080679.2(COL11A2):c.977G>A (p.Arg326Gln) rs762813373
NM_080679.2(COL11A2):c.97G>A (p.Asp33Asn)
NM_080680.2(COL11A2):c.-241G>A rs533843327
NM_080680.2(COL11A2):c.3962delG (p.Gly1321Valfs) rs1562315748

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