ClinVar Miner

List of variants in gene COL11A1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 918
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala) rs144966407 0.00037
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726 0.00036
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly) rs139480042 0.00030
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00024
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser) rs367824632 0.00021
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro) rs371230505 0.00014
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly) rs369794634 0.00014
NM_001854.4(COL11A1):c.3492+3G>A rs372941709 0.00013
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro) rs370534700 0.00013
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr) rs1212773301 0.00012
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355 0.00011
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) rs142523692 0.00011
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00009
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748 0.00009
NM_001854.4(COL11A1):c.1690C>G (p.Arg564Gly) rs776268452 0.00008
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr) rs377044024 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys) rs372387693 0.00007
NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln) rs192313594 0.00007
NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg) rs142524348 0.00007
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn) rs572826781 0.00006
NM_001854.4(COL11A1):c.1244G>A (p.Ser415Asn) rs777310574 0.00006
NM_001854.4(COL11A1):c.1899+3A>G rs374676938 0.00006
NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu) rs776773238 0.00006
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018 0.00006
NM_001854.4(COL11A1):c.3600+8G>A rs188045535 0.00006
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 0.00006
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) rs775587076 0.00006
NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr) rs769350133 0.00006
NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro) rs578137786 0.00006
NM_001854.4(COL11A1):c.2097+3A>G rs770210430 0.00005
NM_001854.4(COL11A1):c.4177G>A (p.Gly1393Ser) rs767950147 0.00005
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His) rs752749747 0.00004
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr) rs150428394 0.00004
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224 0.00004
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu) rs534777436 0.00004
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_001854.4(COL11A1):c.2295+5C>T rs369103119 0.00004
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn) rs762668220 0.00004
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.3115G>T (p.Gly1039Cys) rs764282256 0.00004
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His) rs148464130 0.00004
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val) rs138507620 0.00004
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=) rs917541931 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_001854.4(COL11A1):c.4858+6T>C rs138202640 0.00004
NM_001854.4(COL11A1):c.510C>T (p.Ser170=) rs749497678 0.00004
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr) rs777664906 0.00004
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu) rs945959591 0.00004
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr) rs779346604 0.00004
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn) rs199942159 0.00003
NM_001854.4(COL11A1):c.1043A>T (p.Tyr348Phe) rs539811607 0.00003
NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile) rs368746938 0.00003
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser) rs1156500992 0.00003
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=) rs371490794 0.00003
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val) rs775644641 0.00003
NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys) rs756352775 0.00003
NM_001854.4(COL11A1):c.1488G>A (p.Pro496=) rs772310071 0.00003
NM_001854.4(COL11A1):c.2098-4A>T rs759906097 0.00003
NM_001854.4(COL11A1):c.2506A>G (p.Lys836Glu) rs1319482941 0.00003
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu) rs958678153 0.00003
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=) rs375400337 0.00003
NM_001854.4(COL11A1):c.3652A>G (p.Met1218Val) rs951017335 0.00003
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu) rs750838060 0.00003
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085 0.00003
NM_001854.4(COL11A1):c.4032+5G>A rs770333147 0.00003
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg) rs986400534 0.00003
NM_001854.4(COL11A1):c.4140+6A>G rs191656980 0.00003
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr) rs769920499 0.00003
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474 0.00003
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met) rs544289862 0.00002
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys) rs761451204 0.00002
NM_001854.4(COL11A1):c.1654A>G (p.Lys552Glu) rs1377225041 0.00002
NM_001854.4(COL11A1):c.194A>G (p.Lys65Arg) rs200396868 0.00002
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser) rs375314757 0.00002
NM_001854.4(COL11A1):c.2241+3A>G rs759793105 0.00002
NM_001854.4(COL11A1):c.2276C>T (p.Pro759Leu) rs749290763 0.00002
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=) rs942911563 0.00002
NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser) rs758953085 0.00002
NM_001854.4(COL11A1):c.2754+4C>T rs201183993 0.00002
NM_001854.4(COL11A1):c.2759C>G (p.Pro920Arg) rs751341336 0.00002
NM_001854.4(COL11A1):c.3170G>C (p.Gly1057Ala) rs1419574444 0.00002
NM_001854.4(COL11A1):c.3361T>G (p.Ser1121Ala) rs778937772 0.00002
NM_001854.4(COL11A1):c.3706G>A (p.Asp1236Asn) rs140292959 0.00002
NM_001854.4(COL11A1):c.4233C>T (p.Gly1411=) rs139726483 0.00002
NM_001854.4(COL11A1):c.4249G>A (p.Gly1417Arg) rs752921387 0.00002
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=) rs762511819 0.00002
NM_001854.4(COL11A1):c.4336C>T (p.Pro1446Ser) rs975763978 0.00002
NM_001854.4(COL11A1):c.4608+7A>G rs760018604 0.00002
NM_001854.4(COL11A1):c.4672A>G (p.Thr1558Ala) rs144404767 0.00002
NM_001854.4(COL11A1):c.475A>G (p.Ile159Val) rs774693614 0.00002
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser) rs377036654 0.00002
NM_001854.4(COL11A1):c.898-272A>C rs148225616 0.00002
NM_001854.4(COL11A1):c.898-285G>C rs370745781 0.00002
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg) rs751155680 0.00001
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp) rs1402379236 0.00001
NM_001854.4(COL11A1):c.105A>C (p.Gly35=) rs754255266 0.00001
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser) rs748391176 0.00001
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp) rs1402186540 0.00001
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr) rs376421641 0.00001
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp) rs748335883 0.00001
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys) rs995254814 0.00001
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.1413+6T>C rs1337013861 0.00001
NM_001854.4(COL11A1):c.1414-9T>A rs794727062 0.00001
NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu) rs371793829 0.00001
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His) rs545363972 0.00001
NM_001854.4(COL11A1):c.1537G>A (p.Glu513Lys) rs1288240581 0.00001
NM_001854.4(COL11A1):c.1571G>A (p.Arg524Gln) rs1045481406 0.00001
NM_001854.4(COL11A1):c.157G>A (p.Gly53Arg) rs1230337575 0.00001
NM_001854.4(COL11A1):c.1600A>G (p.Met534Val) rs1374892742 0.00001
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser) rs745841296 0.00001
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu) rs760689529 0.00001
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser) rs1194226000 0.00001
NM_001854.4(COL11A1):c.1742G>A (p.Arg581His) rs769449348 0.00001
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser) rs746192125 0.00001
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=) rs1211057639 0.00001
NM_001854.4(COL11A1):c.1859C>T (p.Pro620Leu) rs777479105 0.00001
NM_001854.4(COL11A1):c.1913A>C (p.Glu638Ala) rs1665410595 0.00001
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys) rs1272896075 0.00001
NM_001854.4(COL11A1):c.1999G>A (p.Gly667Ser) rs760878512 0.00001
NM_001854.4(COL11A1):c.2044-3C>A rs1429349126 0.00001
NM_001854.4(COL11A1):c.2058G>T (p.Glu686Asp) rs369536049 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2173C>T (p.Leu725Phe) rs1450257151 0.00001
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu) rs754657948 0.00001
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg) rs775660447 0.00001
NM_001854.4(COL11A1):c.2266A>G (p.Ile756Val) rs1190680048 0.00001
NM_001854.4(COL11A1):c.2270G>T (p.Gly757Val) rs1664589837 0.00001
NM_001854.4(COL11A1):c.2543G>T (p.Arg848Ile) rs781206372 0.00001
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His) rs779869745 0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602 0.00001
NM_001854.4(COL11A1):c.275G>T (p.Gly92Val) rs1372284079 0.00001
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725 0.00001
NM_001854.4(COL11A1):c.2863-3T>A rs771325957 0.00001
NM_001854.4(COL11A1):c.2926G>A (p.Gly976Ser) rs763187998 0.00001
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His) rs147271219 0.00001
NM_001854.4(COL11A1):c.3044G>T (p.Gly1015Val) rs1343845258 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys) rs377320274 0.00001
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His) rs944650989 0.00001
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu) rs773157346 0.00001
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His) rs1234848212 0.00001
NM_001854.4(COL11A1):c.319C>T (p.Pro107Ser) rs1298293526 0.00001
NM_001854.4(COL11A1):c.3241G>C (p.Gly1081Arg) rs397514455 0.00001
NM_001854.4(COL11A1):c.3271G>A (p.Ala1091Thr) rs1450713198 0.00001
NM_001854.4(COL11A1):c.3319C>G (p.Gln1107Glu) rs1011001694 0.00001
NM_001854.4(COL11A1):c.3383A>G (p.Lys1128Arg) rs1658589699 0.00001
NM_001854.4(COL11A1):c.3397G>C (p.Glu1133Gln) rs757517185 0.00001
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu) rs764478054 0.00001
NM_001854.4(COL11A1):c.3427A>G (p.Lys1143Glu) rs1182148061 0.00001
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys) rs777456846 0.00001
NM_001854.4(COL11A1):c.350C>G (p.Ser117Cys) rs143396707 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 0.00001
NM_001854.4(COL11A1):c.3816C>T (p.Gly1272=) rs973061092 0.00001
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp) rs780739712 0.00001
NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly) rs199555214 0.00001
NM_001854.4(COL11A1):c.3874C>A (p.Pro1292Thr) rs1271972029 0.00001
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu) rs769308801 0.00001
NM_001854.4(COL11A1):c.3938T>A (p.Phe1313Tyr) rs200014253 0.00001
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys) rs750014974 0.00001
NM_001854.4(COL11A1):c.4031C>T (p.Pro1344Leu) rs528959090 0.00001
NM_001854.4(COL11A1):c.4036C>T (p.Pro1346Ser) rs1233186933 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.4225C>T (p.Leu1409Phe) rs1435827751 0.00001
NM_001854.4(COL11A1):c.425A>G (p.His142Arg) rs1672171605 0.00001
NM_001854.4(COL11A1):c.4363C>T (p.Pro1455Ser) rs184965786 0.00001
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu) rs543199135 0.00001
NM_001854.4(COL11A1):c.4387C>A (p.Pro1463Thr) rs1261468907 0.00001
NM_001854.4(COL11A1):c.4390C>T (p.Pro1464Ser) rs1651475810 0.00001
NM_001854.4(COL11A1):c.4411G>A (p.Gly1471Ser) rs1057522949 0.00001
NM_001854.4(COL11A1):c.442C>G (p.Pro148Ala) rs1322123798 0.00001
NM_001854.4(COL11A1):c.4439G>T (p.Gly1480Val) rs759091446 0.00001
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) rs1057521422 0.00001
NM_001854.4(COL11A1):c.4554+3A>G rs1325395705 0.00001
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg) rs146997967 0.00001
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser) rs1374575593 0.00001
NM_001854.4(COL11A1):c.4618G>A (p.Gly1540Ser) rs933062306 0.00001
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr) rs780611200 0.00001
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly) rs756511227 0.00001
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr) rs1277867710 0.00001
NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro) rs865904271 0.00001
NM_001854.4(COL11A1):c.4750A>T (p.Asn1584Tyr) rs1470853407 0.00001
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) rs146954848 0.00001
NM_001854.4(COL11A1):c.4792G>A (p.Gly1598Ser) rs757388014 0.00001
NM_001854.4(COL11A1):c.4859-3T>C rs774985706 0.00001
NM_001854.4(COL11A1):c.4894G>A (p.Gly1632Arg) rs1650488322 0.00001
NM_001854.4(COL11A1):c.4897G>A (p.Asp1633Asn) rs1303443553 0.00001
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp) rs780211105 0.00001
NM_001854.4(COL11A1):c.502G>A (p.Ala168Thr) rs150144437 0.00001
NM_001854.4(COL11A1):c.511G>A (p.Val171Met) rs751182532 0.00001
NM_001854.4(COL11A1):c.534G>C (p.Met178Ile) rs758827956 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_001854.4(COL11A1):c.782A>G (p.Tyr261Cys) rs1204523782 0.00001
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr) rs748315186 0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00001
NM_001854.4(COL11A1):c.897+269G>T rs748058577 0.00001
NM_001854.4(COL11A1):c.898-195G>A rs774299581 0.00001
NM_001854.4(COL11A1):c.898-217A>C rs763456639 0.00001
NM_001854.4(COL11A1):c.898-263C>T rs559331475 0.00001
NM_001854.4(COL11A1):c.898-276A>C rs779058882 0.00001
NM_001854.4(COL11A1):c.947G>A (p.Ser316Asn) rs765019834 0.00001
NM_001854.4(COL11A1):c.973G>T (p.Val325Phe) rs746633493 0.00001
NM_001854.4(COL11A1):c.992C>T (p.Pro331Leu) rs148978696 0.00001
GRCh37/hg19 1p21.1(chr1:103025918-103439485)x1
GRCh37/hg19 1p21.1(chr1:103487914-103519592)x1
GRCh37/hg19 1p21.1(chr1:103487914-103601156)x3
NC_000001.10:g.(?_103345219)_(103348887_?)del
NC_000001.10:g.(?_103364202)_(103364570_?)dup
NC_000001.10:g.(?_103404571)_(103404664_?)del
NC_000001.10:g.(?_103431023)_(103431116_?)del
NC_000001.10:g.(?_103469980)_(103470237_?)dup
NC_000001.10:g.(?_103471374)_(103471891_?)dup
NC_000001.10:g.(?_103473999)_(103480170_?)del
NC_000001.10:g.(?_103473999)_(103496820_?)del
NC_000001.10:g.(?_103487243)_(103496820_?)del
NC_000001.10:g.(?_103491752)_(103491908_?)del
NC_000001.10:g.(?_103544194)_(103573734_?)dup
NM_001854.4(COL11A1):c.1030A>G (p.Thr344Ala)
NM_001854.4(COL11A1):c.1043A>G (p.Tyr348Cys)
NM_001854.4(COL11A1):c.1045G>T (p.Asp349Tyr)
NM_001854.4(COL11A1):c.1057A>G (p.Lys353Glu) rs2101946256
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.1072A>G (p.Thr358Ala)
NM_001854.4(COL11A1):c.1078T>C (p.Tyr360His)
NM_001854.4(COL11A1):c.1081G>A (p.Glu361Lys)
NM_001854.4(COL11A1):c.1087A>G (p.Lys363Glu)
NM_001854.4(COL11A1):c.1112A>G (p.Asp371Gly)
NM_001854.4(COL11A1):c.112C>T (p.Pro38Ser)
NM_001854.4(COL11A1):c.1144G>A (p.Asp382Asn) rs1667210381
NM_001854.4(COL11A1):c.1154A>C (p.Glu385Ala) rs2101945641
NM_001854.4(COL11A1):c.1155A>C (p.Glu385Asp) rs1057524404
NM_001854.4(COL11A1):c.1157A>G (p.Tyr386Cys)
NM_001854.4(COL11A1):c.1194T>A (p.Asn398Lys) rs1245661989
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.121G>A (p.Val41Ile)
NM_001854.4(COL11A1):c.1231A>G (p.Ile411Val)
NM_001854.4(COL11A1):c.1232T>C (p.Ile411Thr)
NM_001854.4(COL11A1):c.1240A>G (p.Thr414Ala)
NM_001854.4(COL11A1):c.1245+3A>C rs1295102743
NM_001854.4(COL11A1):c.1245C>A (p.Ser415Arg) rs371490794
NM_001854.4(COL11A1):c.1246A>G (p.Ile416Val) rs1667095674
NM_001854.4(COL11A1):c.1253G>A (p.Gly418Asp)
NM_001854.4(COL11A1):c.1258G>A (p.Gly420Ser) rs2101938369
NM_001854.4(COL11A1):c.125T>C (p.Leu42Pro)
NM_001854.4(COL11A1):c.1261G>A (p.Ala421Thr) rs763208504
NM_001854.4(COL11A1):c.1262C>A (p.Ala421Glu) rs775644641
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=) rs760330151
NM_001854.4(COL11A1):c.1285G>C (p.Gly429Arg) rs2101938209
NM_001854.4(COL11A1):c.1309G>A (p.Gly437Ser)
NM_001854.4(COL11A1):c.1313T>C (p.Met438Thr)
NM_001854.4(COL11A1):c.1324G>A (p.Gly442Arg)
NM_001854.4(COL11A1):c.1338_1346del (p.446PAG[1])
NM_001854.4(COL11A1):c.1343_1350+1dup rs1417844465
NM_001854.4(COL11A1):c.1345C>A (p.Pro449Thr) rs1262054654
NM_001854.4(COL11A1):c.1349C>A (p.Ala450Glu)
NM_001854.4(COL11A1):c.1350+19del
NM_001854.4(COL11A1):c.1351-3T>A rs1296607621
NM_001854.4(COL11A1):c.1351-3T>C
NM_001854.4(COL11A1):c.1358T>C (p.Met453Thr)
NM_001854.4(COL11A1):c.1359G>C (p.Met453Ile)
NM_001854.4(COL11A1):c.1360G>T (p.Gly454Cys) rs2101915053
NM_001854.4(COL11A1):c.1363C>T (p.Pro455Ser)
NM_001854.4(COL11A1):c.1367C>T (p.Pro456Leu) rs754099465
NM_001854.4(COL11A1):c.1370G>A (p.Gly457Asp)
NM_001854.4(COL11A1):c.1379G>T (p.Gly460Val)
NM_001854.4(COL11A1):c.1382C>T (p.Pro461Leu)
NM_001854.4(COL11A1):c.1388G>A (p.Gly463Glu) rs1475867666
NM_001854.4(COL11A1):c.1409A>T (p.Asp470Val)
NM_001854.4(COL11A1):c.1412G>C (p.Arg471Thr) rs2101914738
NM_001854.4(COL11A1):c.1413+3A>G
NM_001854.4(COL11A1):c.1413+6T>G
NM_001854.4(COL11A1):c.1417C>A (p.Pro473Thr) rs1180040869
NM_001854.4(COL11A1):c.1418C>T (p.Pro473Leu)
NM_001854.4(COL11A1):c.1421C>T (p.Pro474Leu) rs2101905008
NM_001854.4(COL11A1):c.1426C>A (p.Arg476Ser) rs756352775
NM_001854.4(COL11A1):c.1444G>T (p.Ala482Ser)
NM_001854.4(COL11A1):c.1449T>A (p.Asp483Glu)
NM_001854.4(COL11A1):c.1477T>A (p.Leu493Met)
NM_001854.4(COL11A1):c.1479G>T (p.Leu493Phe)
NM_001854.4(COL11A1):c.1483T>A (p.Leu495Ile)
NM_001854.4(COL11A1):c.1486C>A (p.Pro496Thr)
NM_001854.4(COL11A1):c.1488+5G>A
NM_001854.4(COL11A1):c.1488+6T>C rs1571042150
NM_001854.4(COL11A1):c.1491C>G (p.Phe497Leu) rs755704308
NM_001854.4(COL11A1):c.1514A>G (p.Lys505Arg)
NM_001854.4(COL11A1):c.151C>T (p.Pro51Ser)
NM_001854.4(COL11A1):c.1527C>G (p.Ile509Met)
NM_001854.4(COL11A1):c.1544A>G (p.Gln515Arg) rs1666402093
NM_001854.4(COL11A1):c.1545G>T (p.Gln515His)
NM_001854.4(COL11A1):c.1550A>C (p.Gln517Pro) rs2101899405
NM_001854.4(COL11A1):c.1553C>T (p.Ala518Val)
NM_001854.4(COL11A1):c.1567G>T (p.Ala523Ser)
NM_001854.4(COL11A1):c.1570C>T (p.Arg524Trp)
NM_001854.4(COL11A1):c.1573-3T>C
NM_001854.4(COL11A1):c.1576G>T (p.Ala526Ser)
NM_001854.4(COL11A1):c.1594G>T (p.Gly532Cys)
NM_001854.4(COL11A1):c.1609A>G (p.Thr537Ala)
NM_001854.4(COL11A1):c.1609A>T (p.Thr537Ser)
NM_001854.4(COL11A1):c.1612G>A (p.Gly538Arg) rs2101890546
NM_001854.4(COL11A1):c.1622G>A (p.Gly541Asp)
NM_001854.4(COL11A1):c.1628T>C (p.Val543Ala)
NM_001854.4(COL11A1):c.1633G>T (p.Gly545Trp)
NM_001854.4(COL11A1):c.1636C>A (p.Pro546Thr)
NM_001854.4(COL11A1):c.1636C>T (p.Pro546Ser)
NM_001854.4(COL11A1):c.1642T>A (p.Ser548Thr)
NM_001854.4(COL11A1):c.1646C>T (p.Ser549Phe)
NM_001854.4(COL11A1):c.1657G>T (p.Gly553Cys) rs2101869508
NM_001854.4(COL11A1):c.1663A>C (p.Ser555Arg)
NM_001854.4(COL11A1):c.1675G>A (p.Gly559Ser)
NM_001854.4(COL11A1):c.1678C>G (p.Pro560Ala)
NM_001854.4(COL11A1):c.1683+3A>G rs2101869327
NM_001854.4(COL11A1):c.1683G>T (p.Gln561His) rs2101869336
NM_001854.4(COL11A1):c.1687C>T (p.Pro563Ser)
NM_001854.4(COL11A1):c.1688C>A (p.Pro563His) rs2101854756
NM_001854.4(COL11A1):c.1688C>T (p.Pro563Leu) rs2101854756
NM_001854.4(COL11A1):c.168AAC[1] (p.Thr58del) rs1553253791
NM_001854.4(COL11A1):c.1694G>T (p.Gly565Val) rs2101854719
NM_001854.4(COL11A1):c.1701G>T (p.Gln567His)
NM_001854.4(COL11A1):c.1703G>A (p.Gly568Asp) rs1665608144
NM_001854.4(COL11A1):c.1718C>G (p.Thr573Arg)
NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met) rs202011565
NM_001854.4(COL11A1):c.1724A>G (p.Lys575Arg)
NM_001854.4(COL11A1):c.1727C>G (p.Pro576Arg)
NM_001854.4(COL11A1):c.1736G>C (p.Arg579Thr) rs1557935355
NM_001854.4(COL11A1):c.1737+3A>T
NM_001854.4(COL11A1):c.1738G>C (p.Gly580Arg) rs2101852919
NM_001854.4(COL11A1):c.1739G>A (p.Gly580Asp)
NM_001854.4(COL11A1):c.173C>A (p.Thr58Lys) rs770162224
NM_001854.4(COL11A1):c.1744C>G (p.Pro582Ala)
NM_001854.4(COL11A1):c.1745C>T (p.Pro582Leu)
NM_001854.4(COL11A1):c.175G>A (p.Gly59Arg)
NM_001854.4(COL11A1):c.1760G>A (p.Gly587Glu) rs2101852715
NM_001854.4(COL11A1):c.1778A>C (p.Glu593Ala)
NM_001854.4(COL11A1):c.1786G>T (p.Ala596Ser) rs758567291
NM_001854.4(COL11A1):c.1791+3C>A
NM_001854.4(COL11A1):c.1791+4A>G
NM_001854.4(COL11A1):c.1792-13G>T
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[13] rs71752747
NM_001854.4(COL11A1):c.179T>G (p.Phe60Cys)
NM_001854.4(COL11A1):c.1808A>G (p.Asp603Gly)
NM_001854.4(COL11A1):c.1831G>A (p.Asp611Asn)
NM_001854.4(COL11A1):c.1845+3A>T rs2101850931
NM_001854.4(COL11A1):c.1846G>A (p.Gly616Ser)
NM_001854.4(COL11A1):c.1856G>A (p.Gly619Asp)
NM_001854.4(COL11A1):c.185C>T (p.Thr62Ile)
NM_001854.4(COL11A1):c.1871C>T (p.Pro624Leu)
NM_001854.4(COL11A1):c.1879C>G (p.Pro627Ala)
NM_001854.4(COL11A1):c.1889A>T (p.Asp630Val)
NM_001854.4(COL11A1):c.1894A>G (p.Met632Val) rs2101843713
NM_001854.4(COL11A1):c.1894A>T (p.Met632Leu)
NM_001854.4(COL11A1):c.1899+4T>C
NM_001854.4(COL11A1):c.1899+4T>G
NM_001854.4(COL11A1):c.1899G>A (p.Arg633=)
NM_001854.4(COL11A1):c.1900-3C>T
NM_001854.4(COL11A1):c.1900-3_1900-2del
NM_001854.4(COL11A1):c.1900G>A (p.Gly634Arg) rs2101842703
NM_001854.4(COL11A1):c.1913A>T (p.Glu638Val)
NM_001854.4(COL11A1):c.1925G>C (p.Arg642Thr) rs1665409366
NM_001854.4(COL11A1):c.1928G>T (p.Gly643Val) rs1427555518
NM_001854.4(COL11A1):c.1945-3T>A
NM_001854.4(COL11A1):c.1946G>A (p.Gly649Asp)
NM_001854.4(COL11A1):c.1949C>A (p.Pro650Gln)
NM_001854.4(COL11A1):c.1952G>A (p.Arg651Gln)
NM_001854.4(COL11A1):c.1952G>C (p.Arg651Pro)
NM_001854.4(COL11A1):c.195G>T (p.Lys65Asn)
NM_001854.4(COL11A1):c.1961T>C (p.Leu654Pro) rs1131691449
NM_001854.4(COL11A1):c.1964G>C (p.Gly655Ala)
NM_001854.4(COL11A1):c.1973G>A (p.Gly658Glu) rs1201613198
NM_001854.4(COL11A1):c.1988C>T (p.Pro663Leu) rs1377533345
NM_001854.4(COL11A1):c.1991G>C (p.Gly664Ala)
NM_001854.4(COL11A1):c.1998+4T>G
NM_001854.4(COL11A1):c.1998+4_1998+5delinsAT rs2101835613
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr) rs767790003
NM_001854.4(COL11A1):c.2004G>A (p.Met668Ile)
NM_001854.4(COL11A1):c.2009G>C (p.Gly670Ala) rs2101833015
NM_001854.4(COL11A1):c.2011G>A (p.Val671Ile)
NM_001854.4(COL11A1):c.2011G>T (p.Val671Leu) rs201602988
NM_001854.4(COL11A1):c.2024C>T (p.Pro675Leu) rs2101832656
NM_001854.4(COL11A1):c.203A>G (p.Lys68Arg)
NM_001854.4(COL11A1):c.2040C>A (p.Asn680Lys)
NM_001854.4(COL11A1):c.2043+4T>A rs764236870
NM_001854.4(COL11A1):c.2043+5G>A
NM_001854.4(COL11A1):c.2044-5G>A
NM_001854.4(COL11A1):c.2063G>C (p.Gly688Ala)
NM_001854.4(COL11A1):c.206G>A (p.Gly69Asp)
NM_001854.4(COL11A1):c.2087C>T (p.Pro696Leu)
NM_001854.4(COL11A1):c.2097G>C (p.Gln699His) rs775800593
NM_001854.4(COL11A1):c.2098-4A>G rs759906097
NM_001854.4(COL11A1):c.209C>T (p.Ser70Leu) rs990402514
NM_001854.4(COL11A1):c.2104C>T (p.Pro702Ser)
NM_001854.4(COL11A1):c.2110C>T (p.Pro704Ser)
NM_001854.4(COL11A1):c.2131C>T (p.Pro711Ser) rs1665145505
NM_001854.4(COL11A1):c.2132C>T (p.Pro711Leu) rs2101827358
NM_001854.4(COL11A1):c.2143-3A>G rs1664822204
NM_001854.4(COL11A1):c.2143-6T>C rs768898296
NM_001854.4(COL11A1):c.2158C>G (p.Pro720Ala) rs2101807917
NM_001854.4(COL11A1):c.215C>T (p.Thr72Ile)
NM_001854.4(COL11A1):c.2176C>G (p.Pro726Ala)
NM_001854.4(COL11A1):c.2177C>T (p.Pro726Leu)
NM_001854.4(COL11A1):c.218C>T (p.Ala73Val) rs1672522063
NM_001854.4(COL11A1):c.2191C>A (p.Pro731Thr) rs753495125
NM_001854.4(COL11A1):c.2194C>T (p.Pro732Ser) rs375443900
NM_001854.4(COL11A1):c.2196+5G>A rs2101807527
NM_001854.4(COL11A1):c.2196+8A>G
NM_001854.4(COL11A1):c.2201A>G (p.His734Arg)
NM_001854.4(COL11A1):c.2202T>A (p.His734Gln)
NM_001854.4(COL11A1):c.2206G>A (p.Gly736Arg) rs1664704778
NM_001854.4(COL11A1):c.2207G>T (p.Gly736Val) rs2101800983
NM_001854.4(COL11A1):c.2215G>A (p.Gly739Ser) rs764676570
NM_001854.4(COL11A1):c.2216G>A (p.Gly739Asp) rs2101800928
NM_001854.4(COL11A1):c.2219A>G (p.Gln740Arg) rs2101800898
NM_001854.4(COL11A1):c.2225G>C (p.Gly742Ala) rs886044320
NM_001854.4(COL11A1):c.2241+5G>C rs2101800665
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
NM_001854.4(COL11A1):c.2241G>T (p.Leu747=) rs2101800693
NM_001854.4(COL11A1):c.2251G>T (p.Gly751Cys)
NM_001854.4(COL11A1):c.2260G>A (p.Gly754Ser)
NM_001854.4(COL11A1):c.2267T>C (p.Ile756Thr)
NM_001854.4(COL11A1):c.2282C>T (p.Pro761Leu)
NM_001854.4(COL11A1):c.2284C>G (p.Arg762Gly)
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2296-3C>T
NM_001854.4(COL11A1):c.2300C>G (p.Ala767Gly)
NM_001854.4(COL11A1):c.2335G>C (p.Glu779Gln)
NM_001854.4(COL11A1):c.2340G>A (p.Lys780=)
NM_001854.4(COL11A1):c.2341-11_2341-2del
NM_001854.4(COL11A1):c.2341-3T>C
NM_001854.4(COL11A1):c.2356C>G (p.Pro786Ala)
NM_001854.4(COL11A1):c.2360G>T (p.Gly787Val)
NM_001854.4(COL11A1):c.2378G>A (p.Gly793Asp) rs1663916513
NM_001854.4(COL11A1):c.2386G>T (p.Gly796Cys) rs2101750154
NM_001854.4(COL11A1):c.2395-3C>A
NM_001854.4(COL11A1):c.2395G>A (p.Gly799Arg) rs745911557
NM_001854.4(COL11A1):c.2401G>A (p.Val801Ile) rs2101738781
NM_001854.4(COL11A1):c.2414G>A (p.Gly805Asp)
NM_001854.4(COL11A1):c.2414G>T (p.Gly805Val)
NM_001854.4(COL11A1):c.2416C>G (p.Pro806Ala) rs2101738655
NM_001854.4(COL11A1):c.2423G>A (p.Gly808Glu) rs754751701
NM_001854.4(COL11A1):c.242A>G (p.Gln81Arg)
NM_001854.4(COL11A1):c.2434C>G (p.Pro812Ala) rs2101738447
NM_001854.4(COL11A1):c.2453_2454delinsAT (p.Arg818His)
NM_001854.4(COL11A1):c.2462C>G (p.Pro821Arg) rs2101738235
NM_001854.4(COL11A1):c.2470G>A (p.Asp824Asn) rs1064796668
NM_001854.4(COL11A1):c.2491G>A (p.Ala831Thr)
NM_001854.4(COL11A1):c.2491G>T (p.Ala831Ser) rs2101738084
NM_001854.4(COL11A1):c.24G>T (p.Trp8Cys)
NM_001854.4(COL11A1):c.2501A>T (p.Lys834Met)
NM_001854.4(COL11A1):c.2503-3T>C
NM_001854.4(COL11A1):c.2510T>C (p.Leu837Pro) rs2101714784
NM_001854.4(COL11A1):c.2512G>A (p.Gly838Arg)
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001854.4(COL11A1):c.2549G>C (p.Gly850Ala) rs756693376
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser)
NM_001854.4(COL11A1):c.2552C>T (p.Pro851Leu)
NM_001854.4(COL11A1):c.2556+3A>T
NM_001854.4(COL11A1):c.2573C>T (p.Pro858Leu)
NM_001854.4(COL11A1):c.257C>A (p.Thr86Lys)
NM_001854.4(COL11A1):c.2584G>A (p.Gly862Ser) rs1662819143
NM_001854.4(COL11A1):c.2590A>G (p.Asn864Asp)
NM_001854.4(COL11A1):c.2609G>A (p.Arg870Gln)
NM_001854.4(COL11A1):c.2611-12T>A
NM_001854.4(COL11A1):c.2611-19_2611-18delinsCC
NM_001854.4(COL11A1):c.2611-9C>T rs1485078930
NM_001854.4(COL11A1):c.262C>G (p.Gln88Glu)
NM_001854.4(COL11A1):c.2633C>G (p.Pro878Arg) rs370974962
NM_001854.4(COL11A1):c.2638G>A (p.Gly880Ser)
NM_001854.4(COL11A1):c.2654C>T (p.Thr885Met) rs550201657
NM_001854.4(COL11A1):c.2655+6T>A
NM_001854.4(COL11A1):c.2655G>A (p.Thr885=)
NM_001854.4(COL11A1):c.2663G>A (p.Arg888Gln)
NM_001854.4(COL11A1):c.2674G>C (p.Gly892Arg)
NM_001854.4(COL11A1):c.2689A>G (p.Thr897Ala) rs2101680384
NM_001854.4(COL11A1):c.268T>A (p.Phe90Ile)
NM_001854.4(COL11A1):c.268T>C (p.Phe90Leu)
NM_001854.4(COL11A1):c.2701G>C (p.Gly901Arg)
NM_001854.4(COL11A1):c.2709+9T>G
NM_001854.4(COL11A1):c.2720G>A (p.Gly907Asp) rs2101679173
NM_001854.4(COL11A1):c.2729G>A (p.Gly910Asp) rs2101679057
NM_001854.4(COL11A1):c.272C>G (p.Pro91Arg) rs1672517531
NM_001854.4(COL11A1):c.274+3A>G
NM_001854.4(COL11A1):c.274+5A>G rs1571238473
NM_001854.4(COL11A1):c.2741C>A (p.Pro914His) rs2101678875
NM_001854.4(COL11A1):c.2741C>T (p.Pro914Leu) rs2101678875
NM_001854.4(COL11A1):c.275-3C>T
NM_001854.4(COL11A1):c.2754+10A>G rs2101678680
NM_001854.4(COL11A1):c.2754+3A>G
NM_001854.4(COL11A1):c.2758C>A (p.Pro920Thr)
NM_001854.4(COL11A1):c.2759C>T (p.Pro920Leu)
NM_001854.4(COL11A1):c.2764G>A (p.Gly922Arg) rs2101653447
NM_001854.4(COL11A1):c.2768C>T (p.Pro923Leu) rs375398395
NM_001854.4(COL11A1):c.2771A>G (p.Gln924Arg)
NM_001854.4(COL11A1):c.2773G>A (p.Gly925Ser)
NM_001854.4(COL11A1):c.2777C>T (p.Pro926Leu)
NM_001854.4(COL11A1):c.2794C>A (p.Pro932Thr) rs2101653110
NM_001854.4(COL11A1):c.2808+5G>C
NM_001854.4(COL11A1):c.2810G>A (p.Gly937Glu)
NM_001854.4(COL11A1):c.2812C>T (p.Pro938Ser)
NM_001854.4(COL11A1):c.2834C>T (p.Pro945Leu)
NM_001854.4(COL11A1):c.2837G>A (p.Gly946Glu)
NM_001854.4(COL11A1):c.2842C>T (p.Pro948Ser)
NM_001854.4(COL11A1):c.2846G>A (p.Gly949Glu)
NM_001854.4(COL11A1):c.284T>C (p.Phe95Ser) rs2102303811
NM_001854.4(COL11A1):c.2852G>A (p.Arg951His)
NM_001854.4(COL11A1):c.2855G>A (p.Gly952Glu)
NM_001854.4(COL11A1):c.2860A>C (p.Thr954Pro)
NM_001854.4(COL11A1):c.2862+15_2862+43del
NM_001854.4(COL11A1):c.2862+5G>A rs1661827915
NM_001854.4(COL11A1):c.2881G>A (p.Gly961Ser) rs975084437
NM_001854.4(COL11A1):c.2893C>T (p.Pro965Ser)
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)
NM_001854.4(COL11A1):c.2916+6T>C rs2101594936
NM_001854.4(COL11A1):c.2921C>G (p.Pro974Arg) rs78046647
NM_001854.4(COL11A1):c.2942T>C (p.Ile981Thr)
NM_001854.4(COL11A1):c.2950C>T (p.Arg984Cys)
NM_001854.4(COL11A1):c.295T>C (p.Phe99Leu) rs2102303756
NM_001854.4(COL11A1):c.2971G>T (p.Gly991Cys)
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001854.4(COL11A1):c.2981G>A (p.Gly994Asp)
NM_001854.4(COL11A1):c.2983G>A (p.Glu995Lys) rs1661034735
NM_001854.4(COL11A1):c.2998G>A (p.Gly1000Ser) rs1661033116
NM_001854.4(COL11A1):c.29C>A (p.Thr10Lys)
NM_001854.4(COL11A1):c.3003_3020del (p.Ala1002_Ala1007del)
NM_001854.4(COL11A1):c.3005C>T (p.Ala1002Val)
NM_001854.4(COL11A1):c.3008G>C (p.Gly1003Ala)
NM_001854.4(COL11A1):c.3010A>G (p.Lys1004Glu)
NM_001854.4(COL11A1):c.3019G>A (p.Ala1007Thr)
NM_001854.4(COL11A1):c.3024+3A>G rs2101575873
NM_001854.4(COL11A1):c.3024+4C>A
NM_001854.4(COL11A1):c.3025-19T>A rs2101572940
NM_001854.4(COL11A1):c.3031C>T (p.Pro1011Ser)
NM_001854.4(COL11A1):c.3035G>A (p.Gly1012Asp)
NM_001854.4(COL11A1):c.3043G>A (p.Gly1015Ser)
NM_001854.4(COL11A1):c.3044G>A (p.Gly1015Asp)
NM_001854.4(COL11A1):c.3044G>C (p.Gly1015Ala)
NM_001854.4(COL11A1):c.3065C>G (p.Pro1022Arg)
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
NM_001854.4(COL11A1):c.3085C>T (p.Pro1029Ser)
NM_001854.4(COL11A1):c.3093A>C (p.Glu1031Asp)
NM_001854.4(COL11A1):c.3114G>A (p.Gln1038=)
NM_001854.4(COL11A1):c.3127C>A (p.Leu1043Met)
NM_001854.4(COL11A1):c.3128T>C (p.Leu1043Pro) rs886044176
NM_001854.4(COL11A1):c.3145C>T (p.Pro1049Ser)
NM_001854.4(COL11A1):c.3168+3_3168+4insAG
NM_001854.4(COL11A1):c.3168+5del
NM_001854.4(COL11A1):c.3169-3T>C
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
NM_001854.4(COL11A1):c.3179_3181del (p.Gly1060del)
NM_001854.4(COL11A1):c.3185G>T (p.Arg1062Leu)
NM_001854.4(COL11A1):c.31A>G (p.Lys11Glu)
NM_001854.4(COL11A1):c.3203C>G (p.Ala1068Gly)
NM_001854.4(COL11A1):c.3221C>T (p.Pro1074Leu)
NM_001854.4(COL11A1):c.3224G>A (p.Gly1075Glu)
NM_001854.4(COL11A1):c.3226C>T (p.Arg1076Cys) rs1659348330
NM_001854.4(COL11A1):c.3229C>G (p.Pro1077Ala) rs144562769
NM_001854.4(COL11A1):c.3229C>T (p.Pro1077Ser)
NM_001854.4(COL11A1):c.323A>G (p.Lys108Arg) rs1173736609
NM_001854.4(COL11A1):c.3251G>A (p.Gly1084Asp)
NM_001854.4(COL11A1):c.3254C>A (p.Pro1085Gln)
NM_001854.4(COL11A1):c.3263A>C (p.Glu1088Ala) rs890128212
NM_001854.4(COL11A1):c.3271G>C (p.Ala1091Pro)
NM_001854.4(COL11A1):c.3274_3276del (p.Pro1092del)
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala) rs1477374848
NM_001854.4(COL11A1):c.327A>T (p.Lys109Asn)
NM_001854.4(COL11A1):c.3280G>A (p.Glu1094Lys)
NM_001854.4(COL11A1):c.3281A>T (p.Glu1094Val)
NM_001854.4(COL11A1):c.3286G>C (p.Gly1096Arg)
NM_001854.4(COL11A1):c.3287G>A (p.Gly1096Asp)
NM_001854.4(COL11A1):c.3301G>T (p.Ala1101Ser) rs1557849897
NM_001854.4(COL11A1):c.3305G>A (p.Gly1102Glu) rs533762144
NM_001854.4(COL11A1):c.3312T>A (p.Asp1104Glu)
NM_001854.4(COL11A1):c.3335_3336inv (p.Leu1112Arg)
NM_001854.4(COL11A1):c.3337C>G (p.Pro1113Ala)
NM_001854.4(COL11A1):c.3362C>T (p.Ser1121Phe)
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3384G>A (p.Lys1128=)
NM_001854.4(COL11A1):c.3392T>C (p.Ile1131Thr)
NM_001854.4(COL11A1):c.3394G>A (p.Gly1132Ser)
NM_001854.4(COL11A1):c.3400C>A (p.Pro1134Thr)
NM_001854.4(COL11A1):c.3417C>A (p.Ser1139Arg)
NM_001854.4(COL11A1):c.3429G>C (p.Lys1143Asn)
NM_001854.4(COL11A1):c.3430G>A (p.Gly1144Arg)
NM_001854.4(COL11A1):c.3436A>G (p.Asn1146Asp)
NM_001854.4(COL11A1):c.3437A>G (p.Asn1146Ser) rs1658444521
NM_001854.4(COL11A1):c.3438+5G>A
NM_001854.4(COL11A1):c.3439G>A (p.Gly1147Ser) rs1658011510
NM_001854.4(COL11A1):c.3478G>A (p.Ala1160Thr)
NM_001854.4(COL11A1):c.3479C>A (p.Ala1160Asp) rs1658006964
NM_001854.4(COL11A1):c.3494G>T (p.Gly1165Val)
NM_001854.4(COL11A1):c.34C>T (p.Arg12Trp)
NM_001854.4(COL11A1):c.3517A>G (p.Arg1173Gly)
NM_001854.4(COL11A1):c.3521G>A (p.Gly1174Glu)
NM_001854.4(COL11A1):c.3526C>G (p.Gln1176Glu)
NM_001854.4(COL11A1):c.3529G>A (p.Gly1177Arg)
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)
NM_001854.4(COL11A1):c.3535T>C (p.Phe1179Leu) rs2101214143
NM_001854.4(COL11A1):c.3556G>T (p.Gly1186Cys) rs1657938790
NM_001854.4(COL11A1):c.3575G>T (p.Gly1192Val)
NM_001854.4(COL11A1):c.3578C>G (p.Pro1193Arg)
NM_001854.4(COL11A1):c.3580C>T (p.Pro1194Ser)
NM_001854.4(COL11A1):c.3595C>A (p.Leu1199Ile)
NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro) rs767496065
NM_001854.4(COL11A1):c.3600+6A>T
NM_001854.4(COL11A1):c.3602G>T (p.Gly1201Val) rs1016660094
NM_001854.4(COL11A1):c.3613C>G (p.Pro1205Ala)
NM_001854.4(COL11A1):c.3619G>T (p.Gly1207Cys)
NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys)
NM_001854.4(COL11A1):c.3634_3636del (p.Asn1212del)
NM_001854.4(COL11A1):c.3638G>A (p.Gly1213Glu)
NM_001854.4(COL11A1):c.3646G>A (p.Gly1216Ser) rs2101086556
NM_001854.4(COL11A1):c.3647G>C (p.Gly1216Ala) rs1570740272
NM_001854.4(COL11A1):c.364C>T (p.His122Tyr)
NM_001854.4(COL11A1):c.3653T>C (p.Met1218Thr)
NM_001854.4(COL11A1):c.3654+4dup
NM_001854.4(COL11A1):c.3655-3C>G rs372709465
NM_001854.4(COL11A1):c.3655-3C>T
NM_001854.4(COL11A1):c.366T>G (p.His122Gln)
NM_001854.4(COL11A1):c.3671C>G (p.Pro1224Arg)
NM_001854.4(COL11A1):c.3679A>G (p.Arg1227Gly)
NM_001854.4(COL11A1):c.367G>A (p.Gly123Ser)
NM_001854.4(COL11A1):c.3683G>A (p.Gly1228Asp)
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.3697A>G (p.Asn1233Asp)
NM_001854.4(COL11A1):c.3709G>A (p.Gly1237Arg) rs2101066917
NM_001854.4(COL11A1):c.3721C>T (p.Pro1241Ser)
NM_001854.4(COL11A1):c.3737G>T (p.Gly1246Val) rs2101066674
NM_001854.4(COL11A1):c.3745G>A (p.Gly1249Ser)
NM_001854.4(COL11A1):c.3748G>A (p.Gly1250Ser) rs2101066582
NM_001854.4(COL11A1):c.3751G>A (p.Val1251Ile)
NM_001854.4(COL11A1):c.3755G>C (p.Gly1252Ala)
NM_001854.4(COL11A1):c.3757G>A (p.Glu1253Lys)
NM_001854.4(COL11A1):c.3758A>G (p.Glu1253Gly) rs2101066506
NM_001854.4(COL11A1):c.3762G>A (p.Lys1254=)
NM_001854.4(COL11A1):c.3762G>T (p.Lys1254Asn) rs2101066494
NM_001854.4(COL11A1):c.3763-3T>C
NM_001854.4(COL11A1):c.3764G>A (p.Gly1255Asp) rs2101039375
NM_001854.4(COL11A1):c.3779C>T (p.Ala1260Val) rs750838060
NM_001854.4(COL11A1):c.3783G>T (p.Gly1261=) rs2101039217
NM_001854.4(COL11A1):c.3811G>A (p.Val1271Ile) rs150669855
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3817-3T>G
NM_001854.4(COL11A1):c.3843A>T (p.Lys1281Asn)
NM_001854.4(COL11A1):c.3848A>C (p.Glu1283Ala)
NM_001854.4(COL11A1):c.3871G>A (p.Gly1291Arg)
NM_001854.4(COL11A1):c.3889G>A (p.Gly1297Arg)
NM_001854.4(COL11A1):c.3895C>A (p.Pro1299Thr) rs200465040
NM_001854.4(COL11A1):c.3899G>A (p.Gly1300Asp) rs2101032411
NM_001854.4(COL11A1):c.3914A>C (p.Lys1305Thr)
NM_001854.4(COL11A1):c.3919A>G (p.Asn1307Asp)
NM_001854.4(COL11A1):c.391G>A (p.Val131Ile)
NM_001854.4(COL11A1):c.3924+4A>C rs2101032268
NM_001854.4(COL11A1):c.3924G>A (p.Pro1308=)
NM_001854.4(COL11A1):c.3925G>A (p.Gly1309Ser)
NM_001854.4(COL11A1):c.3926G>A (p.Gly1309Asp)
NM_001854.4(COL11A1):c.3928C>A (p.Pro1310Thr)
NM_001854.4(COL11A1):c.3931G>C (p.Val1311Leu)
NM_001854.4(COL11A1):c.3934G>T (p.Gly1312Cys) rs2101030448
NM_001854.4(COL11A1):c.3936_3962del (p.Phe1313_Gly1321del)
NM_001854.4(COL11A1):c.3949C>A (p.Pro1317Thr)
NM_001854.4(COL11A1):c.3949C>T (p.Pro1317Ser) rs1190686816
NM_001854.4(COL11A1):c.3950C>G (p.Pro1317Arg) rs147993467
NM_001854.4(COL11A1):c.3978+4A>G rs1255959388
NM_001854.4(COL11A1):c.3978+4_3978+7del
NM_001854.4(COL11A1):c.3978+5G>A
NM_001854.4(COL11A1):c.3978+6T>C
NM_001854.4(COL11A1):c.3978A>G (p.Ala1326=)
NM_001854.4(COL11A1):c.3985G>T (p.Asp1329Tyr)
NM_001854.4(COL11A1):c.3995G>T (p.Gly1332Val)
NM_001854.4(COL11A1):c.4009G>A (p.Glu1337Lys) rs1654969028
NM_001854.4(COL11A1):c.4028A>C (p.Gln1343Pro)
NM_001854.4(COL11A1):c.4040C>T (p.Pro1347Leu)
NM_001854.4(COL11A1):c.4043G>A (p.Gly1348Asp)
NM_001854.4(COL11A1):c.4048T>C (p.Ser1350Pro)
NM_001854.4(COL11A1):c.4052G>T (p.Gly1351Val)
NM_001854.4(COL11A1):c.4056G>T (p.Glu1352Asp)
NM_001854.4(COL11A1):c.4066C>A (p.Pro1356Thr) rs772400369
NM_001854.4(COL11A1):c.4070G>A (p.Gly1357Asp)
NM_001854.4(COL11A1):c.4070G>T (p.Gly1357Val)
NM_001854.4(COL11A1):c.4072C>T (p.Pro1358Ser) rs2101016676
NM_001854.4(COL11A1):c.4075C>T (p.Pro1359Ser)
NM_001854.4(COL11A1):c.4086+5G>A
NM_001854.4(COL11A1):c.4091C>T (p.Pro1364Leu)
NM_001854.4(COL11A1):c.4094C>T (p.Pro1365Leu) rs1652816919
NM_001854.4(COL11A1):c.4100C>T (p.Ala1367Val) rs1057518442
NM_001854.4(COL11A1):c.4113G>C (p.Glu1371Asp) rs2100925542
NM_001854.4(COL11A1):c.4127A>T (p.Glu1376Val)
NM_001854.4(COL11A1):c.4136C>T (p.Ala1379Val) rs764897552
NM_001854.4(COL11A1):c.4137T>G (p.Ala1379=) rs2100925362
NM_001854.4(COL11A1):c.4139A>G (p.Lys1380Arg)
NM_001854.4(COL11A1):c.4140+3A>G
NM_001854.4(COL11A1):c.4140+3A>T rs1553196515
NM_001854.4(COL11A1):c.4142G>T (p.Gly1381Val)
NM_001854.4(COL11A1):c.4171A>G (p.Lys1391Glu) rs2100923419
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile)
NM_001854.4(COL11A1):c.4173A>T (p.Lys1391Asn) rs753496492
NM_001854.4(COL11A1):c.4177G>T (p.Gly1393Cys)
NM_001854.4(COL11A1):c.4180C>A (p.Pro1394Thr) rs2100923228
NM_001854.4(COL11A1):c.4193A>G (p.Gln1398Arg)
NM_001854.4(COL11A1):c.4195G>C (p.Gly1399Arg)
NM_001854.4(COL11A1):c.4202C>A (p.Ala1401Glu) rs2100922988
NM_001854.4(COL11A1):c.4213G>C (p.Gly1405Arg) rs376137502
NM_001854.4(COL11A1):c.4214G>A (p.Gly1405Asp) rs1652764880
NM_001854.4(COL11A1):c.4240G>T (p.Gly1414Cys)
NM_001854.4(COL11A1):c.4243C>G (p.Pro1415Ala) rs2100922475
NM_001854.4(COL11A1):c.4247T>C (p.Val1416Ala)
NM_001854.4(COL11A1):c.4248+5G>A rs2100922391
NM_001854.4(COL11A1):c.4303-3T>G rs2100864517
NM_001854.4(COL11A1):c.4306C>T (p.Pro1436Ser)
NM_001854.4(COL11A1):c.4310C>A (p.Pro1437His)
NM_001854.4(COL11A1):c.4312G>A (p.Gly1438Ser)
NM_001854.4(COL11A1):c.4313G>C (p.Gly1438Ala)
NM_001854.4(COL11A1):c.4321G>A (p.Gly1441Ser) rs774928560
NM_001854.4(COL11A1):c.4322G>A (p.Gly1441Asp)
NM_001854.4(COL11A1):c.4324C>T (p.Leu1442Phe)
NM_001854.4(COL11A1):c.4327A>G (p.Lys1443Glu)
NM_001854.4(COL11A1):c.4335C>A (p.Asp1445Glu)
NM_001854.4(COL11A1):c.4348G>C (p.Gly1450Arg)
NM_001854.4(COL11A1):c.4356+3G>A
NM_001854.4(COL11A1):c.4363C>G (p.Pro1455Ala)
NM_001854.4(COL11A1):c.4381A>G (p.Ile1461Val) rs2100858136
NM_001854.4(COL11A1):c.4382T>C (p.Ile1461Thr) rs1651477480
NM_001854.4(COL11A1):c.4411G>T (p.Gly1471Cys) rs1057522949
NM_001854.4(COL11A1):c.4412G>T (p.Gly1471Val)
NM_001854.4(COL11A1):c.4417C>G (p.Arg1473Gly)
NM_001854.4(COL11A1):c.442C>T (p.Pro148Ser) rs1322123798
NM_001854.4(COL11A1):c.4436A>G (p.Gln1479Arg)
NM_001854.4(COL11A1):c.4453A>G (p.Lys1485Glu) rs2100857470
NM_001854.4(COL11A1):c.4465-10CT[3]
NM_001854.4(COL11A1):c.4465-1G>A
NM_001854.4(COL11A1):c.4465-5T>G
NM_001854.4(COL11A1):c.4471C>A (p.Pro1491Thr)
NM_001854.4(COL11A1):c.4493G>A (p.Gly1498Asp)
NM_001854.4(COL11A1):c.4518+4del
NM_001854.4(COL11A1):c.4518+5G>A rs2100853342
NM_001854.4(COL11A1):c.4518+5G>T
NM_001854.4(COL11A1):c.4520G>A (p.Gly1507Asp) rs1651344343
NM_001854.4(COL11A1):c.4534A>G (p.Lys1512Glu) rs1651341768
NM_001854.4(COL11A1):c.4536G>A (p.Lys1512=)
NM_001854.4(COL11A1):c.4542C>A (p.Asn1514Lys)
NM_001854.4(COL11A1):c.4544A>G (p.Lys1515Arg)
NM_001854.4(COL11A1):c.4552A>C (p.Thr1518Pro) rs1057523166
NM_001854.4(COL11A1):c.4555-4A>T rs1570635252
NM_001854.4(COL11A1):c.4561G>T (p.Ala1521Ser) rs769920499
NM_001854.4(COL11A1):c.4573G>A (p.Gly1525Ser)
NM_001854.4(COL11A1):c.4585C>A (p.Leu1529Ile) rs2100851363
NM_001854.4(COL11A1):c.4603_4604delinsCT (p.Ser1535Leu) rs2100851197
NM_001854.4(COL11A1):c.4613C>T (p.Pro1538Leu) rs1474325280
NM_001854.4(COL11A1):c.4619G>A (p.Gly1540Asp) rs1432536379
NM_001854.4(COL11A1):c.4621G>A (p.Glu1541Lys) rs2100841350
NM_001854.4(COL11A1):c.4623A>G (p.Glu1541=) rs2100841333
NM_001854.4(COL11A1):c.4633C>A (p.Pro1545Thr)
NM_001854.4(COL11A1):c.4642A>G (p.Ile1548Val) rs1557775198
NM_001854.4(COL11A1):c.4645T>A (p.Leu1549Met)
NM_001854.4(COL11A1):c.4660A>C (p.Thr1554Pro) rs2100840975
NM_001854.4(COL11A1):c.4666A>G (p.Arg1556Gly)
NM_001854.4(COL11A1):c.4667G>A (p.Arg1556Lys)
NM_001854.4(COL11A1):c.4669C>T (p.His1557Tyr)
NM_001854.4(COL11A1):c.46G>A (p.Asp16Asn)
NM_001854.4(COL11A1):c.4717T>G (p.Ser1573Ala)
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.4(COL11A1):c.4738T>C (p.Phe1580Leu)
NM_001854.4(COL11A1):c.4741G>A (p.Gly1581Ser)
NM_001854.4(COL11A1):c.4742G>T (p.Gly1581Val)
NM_001854.4(COL11A1):c.4763A>G (p.Gln1588Arg) rs747648407
NM_001854.4(COL11A1):c.4765G>A (p.Asp1589Asn)
NM_001854.4(COL11A1):c.4771G>A (p.Glu1591Lys)
NM_001854.4(COL11A1):c.4784T>C (p.Phe1595Ser)
NM_001854.4(COL11A1):c.4799A>G (p.Gln1600Arg)
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.4810G>A (p.Ala1604Thr)
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
NM_001854.4(COL11A1):c.4814G>C (p.Arg1605Pro) rs371100196
NM_001854.4(COL11A1):c.4819T>C (p.Cys1607Arg) rs2100839621
NM_001854.4(COL11A1):c.4834C>G (p.Leu1612Val)
NM_001854.4(COL11A1):c.4844C>T (p.Pro1615Leu)
NM_001854.4(COL11A1):c.4848C>A (p.Asp1616Glu) rs2100839539
NM_001854.4(COL11A1):c.4857T>C (p.Asp1619=)
NM_001854.4(COL11A1):c.4865A>G (p.Tyr1622Cys) rs2101026386
NM_001854.4(COL11A1):c.4869G>T (p.Trp1623Cys)
NM_001854.4(COL11A1):c.487A>G (p.Lys163Glu)
NM_001854.4(COL11A1):c.488+6T>C
NM_001854.4(COL11A1):c.4886G>T (p.Gly1629Val) rs372504909
NM_001854.4(COL11A1):c.4889G>A (p.Cys1630Tyr) rs983620607
NM_001854.4(COL11A1):c.489-3T>C
NM_001854.4(COL11A1):c.4903T>C (p.Phe1635Leu)
NM_001854.4(COL11A1):c.4906A>C (p.Lys1636Gln)
NM_001854.4(COL11A1):c.4913A>G (p.Tyr1638Cys)
NM_001854.4(COL11A1):c.4927T>C (p.Ser1643Pro)
NM_001854.4(COL11A1):c.4931G>A (p.Gly1644Asp)
NM_001854.4(COL11A1):c.4951C>T (p.Pro1651Ser)
NM_001854.4(COL11A1):c.4955A>G (p.Asp1652Gly)
NM_001854.4(COL11A1):c.4956C>A (p.Asp1652Glu)
NM_001854.4(COL11A1):c.4961A>C (p.Lys1654Thr) rs2101025808
NM_001854.4(COL11A1):c.4969G>A (p.Gly1657Arg)
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln) rs142753283
NM_001854.4(COL11A1):c.4990C>A (p.Pro1664Thr)
NM_001854.4(COL11A1):c.4991C>A (p.Pro1664Gln) rs1650268405
NM_001854.4(COL11A1):c.4995G>T (p.Lys1665Asn)
NM_001854.4(COL11A1):c.5013G>T (p.Trp1671Cys)
NM_001854.4(COL11A1):c.5019T>G (p.Ser1673Arg)
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)
NM_001854.4(COL11A1):c.5033G>A (p.Gly1678Glu)
NM_001854.4(COL11A1):c.5039T>G (p.Leu1680Arg) rs2101017664
NM_001854.4(COL11A1):c.510C>A (p.Ser170Arg)
NM_001854.4(COL11A1):c.517A>G (p.Lys173Glu)
NM_001854.4(COL11A1):c.5280A>T (p.Arg1760Ser)
NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys) rs1649735346
NM_001854.4(COL11A1):c.5291A>G (p.Glu1764Gly)
NM_001854.4(COL11A1):c.5292A>C (p.Glu1764Asp)
NM_001854.4(COL11A1):c.5294del (p.Lys1765fs) rs2100996466
NM_001854.4(COL11A1):c.5296A>T (p.Thr1766Ser) rs1557764324
NM_001854.4(COL11A1):c.52A>G (p.Thr18Ala) rs114630202
NM_001854.4(COL11A1):c.5303T>A (p.Ile1768Asn)
NM_001854.4(COL11A1):c.5307_5327del (p.Glu1769_Ile1775del)
NM_001854.4(COL11A1):c.5323A>C (p.Ile1775Leu)
NM_001854.4(COL11A1):c.5331A>C (p.Gln1777His)
NM_001854.4(COL11A1):c.5357dup (p.Asn1786fs)
NM_001854.4(COL11A1):c.5360A>T (p.Asp1787Val)
NM_001854.4(COL11A1):c.5372_5373delinsGC (p.Gln1791Arg) rs2100995563
NM_001854.4(COL11A1):c.5398G>A (p.Gly1800Ser) rs958368134
NM_001854.4(COL11A1):c.5398G>T (p.Gly1800Cys)
NM_001854.4(COL11A1):c.539T>C (p.Val180Ala)
NM_001854.4(COL11A1):c.53C>A (p.Thr18Asn)
NM_001854.4(COL11A1):c.53C>T (p.Thr18Ile) rs2102453221
NM_001854.4(COL11A1):c.5410T>C (p.Phe1804Leu) rs546905537
NM_001854.4(COL11A1):c.5412T>A (p.Phe1804Leu)
NM_001854.4(COL11A1):c.541G>A (p.Asp181Asn)
NM_001854.4(COL11A1):c.547A>G (p.Lys183Glu)
NM_001854.4(COL11A1):c.548A>G (p.Lys183Arg) rs1671839259
NM_001854.4(COL11A1):c.548A>T (p.Lys183Met)
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.551A>G (p.Lys184Arg) rs2102281739
NM_001854.4(COL11A1):c.556A>G (p.Thr186Ala) rs2102281711
NM_001854.4(COL11A1):c.55G>C (p.Val19Leu)
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys) rs184606223
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001854.4(COL11A1):c.565C>A (p.Pro189Thr) rs201557468
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.581A>T (p.Glu194Val) rs1671835289
NM_001854.4(COL11A1):c.590T>C (p.Ile197Thr)
NM_001854.4(COL11A1):c.611C>A (p.Thr204Lys) rs199595073
NM_001854.4(COL11A1):c.622A>C (p.Thr208Pro)
NM_001854.4(COL11A1):c.623C>T (p.Thr208Ile)
NM_001854.4(COL11A1):c.626G>A (p.Arg209Lys)
NM_001854.4(COL11A1):c.652-3C>G
NM_001854.4(COL11A1):c.656A>G (p.Asp219Gly)
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser) rs1386580787
NM_001854.4(COL11A1):c.67_74delinsCT (p.Ala23_Thr25delinsLeu) rs2102453038
NM_001854.4(COL11A1):c.688A>G (p.Lys230Glu)
NM_001854.4(COL11A1):c.695C>T (p.Ala232Val) rs2101995475
NM_001854.4(COL11A1):c.700G>A (p.Asp234Asn)
NM_001854.4(COL11A1):c.709G>A (p.Glu237Lys) rs2101995328
NM_001854.4(COL11A1):c.724G>T (p.Asp242Tyr)
NM_001854.4(COL11A1):c.740C>G (p.Ala247Gly) rs773180523
NM_001854.4(COL11A1):c.742C>T (p.Pro248Ser)
NM_001854.4(COL11A1):c.763G>C (p.Glu255Gln) rs768132080
NM_001854.4(COL11A1):c.773T>G (p.Ile258Arg) rs2101994888
NM_001854.4(COL11A1):c.778G>A (p.Glu260Lys)
NM_001854.4(COL11A1):c.77T>C (p.Phe26Ser)
NM_001854.4(COL11A1):c.781-5T>G rs1667517373
NM_001854.4(COL11A1):c.781T>C (p.Tyr261His)
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr) rs372319750
NM_001854.4(COL11A1):c.799A>G (p.Ile267Val)
NM_001854.4(COL11A1):c.79C>G (p.Leu27Val) rs2102453014
NM_001854.4(COL11A1):c.802G>A (p.Glu268Lys)
NM_001854.4(COL11A1):c.832T>C (p.Tyr278His) rs1372677796
NM_001854.4(COL11A1):c.868G>A (p.Val290Ile)
NM_001854.4(COL11A1):c.876G>T (p.Glu292Asp) rs768795702
NM_001854.4(COL11A1):c.897+3A>T
NM_001854.4(COL11A1):c.897+5A>T rs1667500095
NM_001854.4(COL11A1):c.898-186G>A rs1667461680
NM_001854.4(COL11A1):c.898-186G>T rs1667461680
NM_001854.4(COL11A1):c.898-186del rs2101962817
NM_001854.4(COL11A1):c.898-187G>T rs768645535
NM_001854.4(COL11A1):c.898-196A>G rs2101962872
NM_001854.4(COL11A1):c.898-201A>G rs138054633
NM_001854.4(COL11A1):c.898-216G>A
NM_001854.4(COL11A1):c.898-259dup rs2101963390
NM_001854.4(COL11A1):c.898-296C>G
NM_001854.4(COL11A1):c.899C>G (p.Ala300Gly) rs2101961844
NM_001854.4(COL11A1):c.914A>G (p.Asp305Gly)
NM_001854.4(COL11A1):c.940A>G (p.Met314Val)
NM_001854.4(COL11A1):c.955A>G (p.Thr319Ala) rs2101961446
NM_001854.4(COL11A1):c.961G>T (p.Ala321Ser)
NM_001854.4(COL11A1):c.977C>G (p.Ser326Cys)
NM_001854.4(COL11A1):c.982A>G (p.Thr328Ala)
NM_001854.4(COL11A1):c.983C>A (p.Thr328Lys) rs1157354380
NM_001854.4(COL11A1):c.991C>T (p.Pro331Ser)

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