ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 555
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu) rs140266192 0.00011
NM_080680.3(COL11A2):c.1817C>T (p.Ser606Leu) rs147328015 0.00010
NM_080680.3(COL11A2):c.2528C>T (p.Thr843Met) rs770007946 0.00010
NM_080680.3(COL11A2):c.4392C>T (p.Pro1464=) rs372419316 0.00009
NM_080680.3(COL11A2):c.539G>A (p.Arg180His) rs142462583 0.00008
NM_080680.3(COL11A2):c.1971+6C>T rs746341530 0.00006
NM_080680.3(COL11A2):c.2016G>A (p.Lys672=) rs890593189 0.00006
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala) rs555936455 0.00006
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_080680.3(COL11A2):c.3365C>T (p.Ala1122Val) rs748271072 0.00006
NM_080680.3(COL11A2):c.3583-3C>T rs727502939 0.00006
NM_080680.3(COL11A2):c.2016+5G>A rs931061964 0.00005
NM_080680.3(COL11A2):c.2484+6C>G rs554710956 0.00005
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) rs548592690 0.00005
NM_080680.3(COL11A2):c.1818G>A (p.Ser606=) rs759121761 0.00004
NM_080680.3(COL11A2):c.2069C>T (p.Pro690Leu) rs144992893 0.00004
NM_080680.3(COL11A2):c.3311A>C (p.His1104Pro) rs1175032554 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3751C>T (p.Pro1251Ser) rs1235422277 0.00004
NM_080680.3(COL11A2):c.431T>C (p.Leu144Pro) rs922135487 0.00004
NM_080680.3(COL11A2):c.1119C>T (p.Ala373=) rs753417704 0.00003
NM_080680.3(COL11A2):c.1557+4A>G rs956209003 0.00003
NM_080680.3(COL11A2):c.2495G>A (p.Gly832Glu) rs750006299 0.00003
NM_080680.3(COL11A2):c.2736G>A (p.Val912=) rs1022027047 0.00003
NM_080680.3(COL11A2):c.3464T>C (p.Ile1155Thr) rs377230752 0.00003
NM_080680.3(COL11A2):c.3882C>T (p.Gly1294=) rs752282200 0.00003
NM_080680.3(COL11A2):c.388C>T (p.Arg130Trp) rs144363465 0.00003
NM_080680.3(COL11A2):c.4255A>C (p.Ile1419Leu) rs765708674 0.00003
NM_080680.3(COL11A2):c.1783G>A (p.Gly595Arg) rs377233986 0.00002
NM_080680.3(COL11A2):c.2044G>A (p.Gly682Ser) rs781407891 0.00002
NM_080680.3(COL11A2):c.2736+6T>A rs781684563 0.00002
NM_080680.3(COL11A2):c.283G>C (p.Gly95Arg) rs139813387 0.00002
NM_080680.3(COL11A2):c.2899G>A (p.Gly967Ser) rs1292684133 0.00002
NM_080680.3(COL11A2):c.3300C>A (p.Asn1100Lys) rs894604176 0.00002
NM_080680.3(COL11A2):c.338G>T (p.Gly113Val) rs199946338 0.00002
NM_080680.3(COL11A2):c.3529-3C>T rs753183777 0.00002
NM_080680.3(COL11A2):c.3547G>A (p.Gly1183Arg) rs1169845250 0.00002
NM_080680.3(COL11A2):c.3774C>T (p.Gly1258=) rs558644599 0.00002
NM_080680.3(COL11A2):c.538C>T (p.Arg180Cys) rs775636045 0.00002
NM_080680.3(COL11A2):c.580C>T (p.Arg194Cys) rs780110905 0.00002
NM_080680.3(COL11A2):c.799-7A>G rs771451654 0.00002
NM_080680.3(COL11A2):c.1019C>A (p.Pro340His) rs760905455 0.00001
NM_080680.3(COL11A2):c.107G>A (p.Arg36Gln) rs757584689 0.00001
NM_080680.3(COL11A2):c.1127A>G (p.His376Arg) rs138186336 0.00001
NM_080680.3(COL11A2):c.1284+6G>A rs763765791 0.00001
NM_080680.3(COL11A2):c.133G>A (p.Asp45Asn) rs776686881 0.00001
NM_080680.3(COL11A2):c.1403C>T (p.Ala468Val) rs1475898236 0.00001
NM_080680.3(COL11A2):c.1558-3C>T rs1771346587 0.00001
NM_080680.3(COL11A2):c.1664A>G (p.Lys555Arg) rs756619652 0.00001
NM_080680.3(COL11A2):c.1696C>T (p.Leu566Phe) rs953245426 0.00001
NM_080680.3(COL11A2):c.1744C>T (p.Pro582Ser) rs147517796 0.00001
NM_080680.3(COL11A2):c.1773G>A (p.Arg591=) rs1771231847 0.00001
NM_080680.3(COL11A2):c.1818+3G>C rs765851027 0.00001
NM_080680.3(COL11A2):c.182G>A (p.Arg61Gln) rs761464756 0.00001
NM_080680.3(COL11A2):c.1922C>A (p.Pro641His) rs1771085146 0.00001
NM_080680.3(COL11A2):c.1936G>A (p.Gly646Arg) rs1383709560 0.00001
NM_080680.3(COL11A2):c.197C>T (p.Ala66Val) rs1772821440 0.00001
NM_080680.3(COL11A2):c.1999G>A (p.Gly667Ser) rs1322629595 0.00001
NM_080680.3(COL11A2):c.2099G>C (p.Gly700Ala) rs558103710 0.00001
NM_080680.3(COL11A2):c.2176G>T (p.Asp726Tyr) rs748424898 0.00001
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg) rs768569721 0.00001
NM_080680.3(COL11A2):c.2185C>T (p.Arg729Trp) rs1180335400 0.00001
NM_080680.3(COL11A2):c.232+3A>G rs777699755 0.00001
NM_080680.3(COL11A2):c.2365A>T (p.Met789Leu) rs757671138 0.00001
NM_080680.3(COL11A2):c.2387G>C (p.Gly796Ala) rs1361979037 0.00001
NM_080680.3(COL11A2):c.239T>C (p.Phe80Ser) rs1459651793 0.00001
NM_080680.3(COL11A2):c.2537G>A (p.Arg846Gln) rs1184127849 0.00001
NM_080680.3(COL11A2):c.2678C>A (p.Pro893His) rs1415750932 0.00001
NM_080680.3(COL11A2):c.2809G>A (p.Gly937Ser) rs993223370 0.00001
NM_080680.3(COL11A2):c.2989-3T>C rs775993606 0.00001
NM_080680.3(COL11A2):c.3110C>T (p.Pro1037Leu) rs1048400213 0.00001
NM_080680.3(COL11A2):c.3480G>T (p.Leu1160Phe) rs927537693 0.00001
NM_080680.3(COL11A2):c.3664G>T (p.Gly1222Trp) rs770599645 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3799-4T>G rs1170772773 0.00001
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315 0.00001
NM_080680.3(COL11A2):c.3851G>A (p.Arg1284Gln) rs773296454 0.00001
NM_080680.3(COL11A2):c.3925G>A (p.Gly1309Arg) rs779569420 0.00001
NM_080680.3(COL11A2):c.3960+5G>A rs1253796267 0.00001
NM_080680.3(COL11A2):c.3967G>A (p.Ala1323Thr) rs1769404565 0.00001
NM_080680.3(COL11A2):c.4001G>A (p.Gly1334Glu) rs200078912 0.00001
NM_080680.3(COL11A2):c.4208A>T (p.Asp1403Val) rs1353761128 0.00001
NM_080680.3(COL11A2):c.4337T>C (p.Met1446Thr) rs781001180 0.00001
NM_080680.3(COL11A2):c.4384G>A (p.Gly1462Ser) rs550330978 0.00001
NM_080680.3(COL11A2):c.443+4A>C rs1189655931 0.00001
NM_080680.3(COL11A2):c.449A>G (p.His150Arg) rs763176333 0.00001
NM_080680.3(COL11A2):c.451C>T (p.Arg151Cys) rs1443532726 0.00001
NM_080680.3(COL11A2):c.4663G>A (p.Glu1555Lys) rs772829153 0.00001
NM_080680.3(COL11A2):c.4748A>G (p.Asp1583Gly) rs779832829 0.00001
NM_080680.3(COL11A2):c.4755G>C (p.Glu1585Asp) rs140553708 0.00001
NM_080680.3(COL11A2):c.485C>T (p.Thr162Ile) rs1310968912 0.00001
NM_080680.3(COL11A2):c.4924C>G (p.Leu1642Val) rs770715075 0.00001
NM_080680.3(COL11A2):c.4984G>A (p.Gly1662Ser) rs1377653646 0.00001
NM_080680.3(COL11A2):c.5152C>A (p.Leu1718Met) rs1413052565 0.00001
NM_080680.3(COL11A2):c.606+3A>G rs775089162 0.00001
NM_080680.3(COL11A2):c.897G>T (p.Glu299Asp) rs375861604 0.00001
NM_080680.3(COL11A2):c.940-4G>T rs1397179790 0.00001
NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn) rs1268538634 0.00001
NC_000006.11:g.(?_33131455)_(33139900_?)dup
NC_000006.11:g.(?_33140817)_(33141352_?)dup
NC_000006.11:g.(?_33141105)_(33141352_?)dup
NM_080680.3(COL11A2):c.1019C>T (p.Pro340Leu)
NM_080680.3(COL11A2):c.1040C>T (p.Thr347Ile) rs2150601146
NM_080680.3(COL11A2):c.1043A>G (p.Tyr348Cys) rs1024797774
NM_080680.3(COL11A2):c.106C>G (p.Arg36Gly) rs118097056
NM_080680.3(COL11A2):c.109G>A (p.Ala37Thr)
NM_080680.3(COL11A2):c.1119C>G (p.Ala373=)
NM_080680.3(COL11A2):c.1120-10T>G rs773140106
NM_080680.3(COL11A2):c.1121_1129dup (p.His376_Gly377insAlaAlaHis)
NM_080680.3(COL11A2):c.1133C>T (p.Pro378Leu)
NM_080680.3(COL11A2):c.1147G>A (p.Gly383Arg)
NM_080680.3(COL11A2):c.1161G>T (p.Glu387Asp) rs192219284
NM_080680.3(COL11A2):c.1163C>T (p.Pro388Leu)
NM_080680.3(COL11A2):c.1179+3A>C rs2150588225
NM_080680.3(COL11A2):c.1179T>C (p.Pro393=)
NM_080680.3(COL11A2):c.1180-31_1180-12del
NM_080680.3(COL11A2):c.1180G>C (p.Gly394Arg)
NM_080680.3(COL11A2):c.1189G>A (p.Val397Met) rs148250300
NM_080680.3(COL11A2):c.1189G>C (p.Val397Leu) rs148250300
NM_080680.3(COL11A2):c.1198C>T (p.Pro400Ser)
NM_080680.3(COL11A2):c.121C>T (p.Pro41Ser)
NM_080680.3(COL11A2):c.1220C>A (p.Ala407Glu) rs201981435
NM_080680.3(COL11A2):c.1221+3_1221+4del
NM_080680.3(COL11A2):c.1223G>A (p.Gly408Glu) rs1399095431
NM_080680.3(COL11A2):c.1243A>G (p.Ile415Val) rs2150586428
NM_080680.3(COL11A2):c.1255C>A (p.Pro419Thr)
NM_080680.3(COL11A2):c.1259G>C (p.Gly420Ala) rs2150586335
NM_080680.3(COL11A2):c.125C>G (p.Ser42Cys) rs2150625417
NM_080680.3(COL11A2):c.1271A>G (p.Asp424Gly)
NM_080680.3(COL11A2):c.1284+5G>A
NM_080680.3(COL11A2):c.1333C>G (p.Pro445Ala) rs1261759387
NM_080680.3(COL11A2):c.1333C>T (p.Pro445Ser) rs1261759387
NM_080680.3(COL11A2):c.1334C>G (p.Pro445Arg) rs2150584234
NM_080680.3(COL11A2):c.1343C>T (p.Thr448Ile)
NM_080680.3(COL11A2):c.1359+4A>G
NM_080680.3(COL11A2):c.1359A>G (p.Pro453=) rs2150584115
NM_080680.3(COL11A2):c.1360T>C (p.Phe454Leu) rs2150582563
NM_080680.3(COL11A2):c.1364G>C (p.Arg455Pro) rs781138300
NM_080680.3(COL11A2):c.1370G>A (p.Gly457Asp) rs1554221493
NM_080680.3(COL11A2):c.1378G>A (p.Gly460Arg)
NM_080680.3(COL11A2):c.1378G>C (p.Gly460Arg)
NM_080680.3(COL11A2):c.1396G>A (p.Val466Met)
NM_080680.3(COL11A2):c.1403C>A (p.Ala468Glu)
NM_080680.3(COL11A2):c.1406C>T (p.Ala469Val)
NM_080680.3(COL11A2):c.1425G>C (p.Gln475His)
NM_080680.3(COL11A2):c.143G>T (p.Arg48Leu)
NM_080680.3(COL11A2):c.1446+3G>A
NM_080680.3(COL11A2):c.1446+6T>C rs1771471522
NM_080680.3(COL11A2):c.1456C>G (p.Arg486Gly)
NM_080680.3(COL11A2):c.149C>G (p.Ala50Gly) rs1772830656
NM_080680.3(COL11A2):c.1557+3G>A
NM_080680.3(COL11A2):c.1570C>T (p.Pro524Ser) rs2150579159
NM_080680.3(COL11A2):c.1589C>T (p.Pro530Leu)
NM_080680.3(COL11A2):c.1622G>A (p.Gly541Asp) rs746757128
NM_080680.3(COL11A2):c.1622G>C (p.Gly541Ala) rs746757128
NM_080680.3(COL11A2):c.1627G>A (p.Asp543Asn) rs2150578552
NM_080680.3(COL11A2):c.163C>T (p.Pro55Ser) rs1772828091
NM_080680.3(COL11A2):c.1665+5C>T
NM_080680.3(COL11A2):c.1681G>A (p.Asp561Asn)
NM_080680.3(COL11A2):c.1683T>A (p.Asp561Glu)
NM_080680.3(COL11A2):c.1696C>A (p.Leu566Ile)
NM_080680.3(COL11A2):c.16C>A (p.Arg6Ser)
NM_080680.3(COL11A2):c.16C>G (p.Arg6Gly) rs1773212111
NM_080680.3(COL11A2):c.1703G>C (p.Gly568Ala) rs2150577386
NM_080680.3(COL11A2):c.1719G>C (p.Arg573Ser)
NM_080680.3(COL11A2):c.1727C>G (p.Thr576Ser)
NM_080680.3(COL11A2):c.1729G>C (p.Gly577Arg)
NM_080680.3(COL11A2):c.1750C>T (p.Pro584Ser) rs1227766373
NM_080680.3(COL11A2):c.1750_1758del (p.Pro584_Gly586del) rs2150576462
NM_080680.3(COL11A2):c.176C>T (p.Ala59Val) rs1240969348
NM_080680.3(COL11A2):c.1773+5G>A
NM_080680.3(COL11A2):c.1773+6T>C rs2150576368
NM_080680.3(COL11A2):c.1773G>T (p.Arg591Ser)
NM_080680.3(COL11A2):c.1777G>A (p.Asp593Asn) rs2150576059
NM_080680.3(COL11A2):c.1780G>A (p.Asp594Asn)
NM_080680.3(COL11A2):c.1807C>T (p.Pro603Ser)
NM_080680.3(COL11A2):c.1811G>C (p.Gly604Ala)
NM_080680.3(COL11A2):c.1817C>G (p.Ser606Trp) rs147328015
NM_080680.3(COL11A2):c.1818+15G>T
NM_080680.3(COL11A2):c.1831C>G (p.Leu611Val)
NM_080680.3(COL11A2):c.185T>C (p.Val62Ala) rs1177392089
NM_080680.3(COL11A2):c.1867C>A (p.Pro623Thr)
NM_080680.3(COL11A2):c.1867C>T (p.Pro623Ser) rs553386615
NM_080680.3(COL11A2):c.1912A>G (p.Ser638Gly)
NM_080680.3(COL11A2):c.1917+12A>G
NM_080680.3(COL11A2):c.1919G>T (p.Gly640Val)
NM_080680.3(COL11A2):c.1921C>T (p.Pro641Ser)
NM_080680.3(COL11A2):c.193C>T (p.Pro65Ser)
NM_080680.3(COL11A2):c.1952A>G (p.Gln651Arg)
NM_080680.3(COL11A2):c.1960C>T (p.Pro654Ser)
NM_080680.3(COL11A2):c.1971+10_1971+11delinsTT
NM_080680.3(COL11A2):c.1971+3G>A
NM_080680.3(COL11A2):c.1990G>A (p.Gly664Ser)
NM_080680.3(COL11A2):c.1997T>C (p.Ile666Thr)
NM_080680.3(COL11A2):c.201G>T (p.Gln67His)
NM_080680.3(COL11A2):c.2032C>T (p.Pro678Ser)
NM_080680.3(COL11A2):c.2038C>T (p.Leu680Phe)
NM_080680.3(COL11A2):c.2056T>C (p.Ser686Pro) rs2150571106
NM_080680.3(COL11A2):c.2059G>T (p.Asp687Tyr) rs2228549
NM_080680.3(COL11A2):c.2063G>A (p.Gly688Glu)
NM_080680.3(COL11A2):c.206G>A (p.Ser69Asn)
NM_080680.3(COL11A2):c.2070+3G>A
NM_080680.3(COL11A2):c.2070G>A (p.Pro690=)
NM_080680.3(COL11A2):c.2071-3C>G rs1770965376
NM_080680.3(COL11A2):c.2085G>T (p.Lys695Asn) rs368770525
NM_080680.3(COL11A2):c.2090G>T (p.Gly697Val)
NM_080680.3(COL11A2):c.2107G>A (p.Gly703Arg) rs1770959145
NM_080680.3(COL11A2):c.2112C>A (p.Asn704Lys)
NM_080680.3(COL11A2):c.2123C>T (p.Ser708Phe)
NM_080680.3(COL11A2):c.2129C>A (p.Pro710His) rs2150568988
NM_080680.3(COL11A2):c.2138C>T (p.Pro713Leu) rs2150568918
NM_080680.3(COL11A2):c.2150C>G (p.Pro717Arg)
NM_080680.3(COL11A2):c.215C>T (p.Thr72Ile) rs2150624787
NM_080680.3(COL11A2):c.2164G>T (p.Val722Phe)
NM_080680.3(COL11A2):c.2171G>A (p.Gly724Asp)
NM_080680.3(COL11A2):c.2179G>C (p.Gly727Arg) rs768569721
NM_080680.3(COL11A2):c.217C>T (p.Arg73Cys)
NM_080680.3(COL11A2):c.218G>A (p.Arg73His)
NM_080680.3(COL11A2):c.2206G>C (p.Gly736Arg) rs1284405190
NM_080680.3(COL11A2):c.2215-9C>A
NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)
NM_080680.3(COL11A2):c.221A>C (p.Gln74Pro)
NM_080680.3(COL11A2):c.2221G>C (p.Asp741His)
NM_080680.3(COL11A2):c.2240A>G (p.Lys747Arg) rs2150567302
NM_080680.3(COL11A2):c.2252G>A (p.Gly751Asp) rs2150567279
NM_080680.3(COL11A2):c.2268+4A>G
NM_080680.3(COL11A2):c.2269-3C>A rs2150565971
NM_080680.3(COL11A2):c.2275G>T (p.Val759Phe)
NM_080680.3(COL11A2):c.2291C>T (p.Ser764Phe)
NM_080680.3(COL11A2):c.2293A>G (p.Arg765Gly)
NM_080680.3(COL11A2):c.2297G>C (p.Gly766Ala)
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080680.3(COL11A2):c.233-3T>C
NM_080680.3(COL11A2):c.2332G>A (p.Gly778Arg)
NM_080680.3(COL11A2):c.2335C>T (p.Pro779Ser)
NM_080680.3(COL11A2):c.2347C>A (p.Pro783Thr)
NM_080680.3(COL11A2):c.2348C>T (p.Pro783Leu)
NM_080680.3(COL11A2):c.2353C>T (p.Pro785Ser) rs1244982404
NM_080680.3(COL11A2):c.2362C>G (p.Leu788Val)
NM_080680.3(COL11A2):c.2376+6G>A
NM_080680.3(COL11A2):c.237A>T (p.Gly79=)
NM_080680.3(COL11A2):c.2408A>G (p.Tyr803Cys) rs1770639119
NM_080680.3(COL11A2):c.2411C>T (p.Pro804Leu)
NM_080680.3(COL11A2):c.2417G>T (p.Arg806Leu) rs200552277
NM_080680.3(COL11A2):c.241C>T (p.Pro81Ser)
NM_080680.3(COL11A2):c.2423G>C (p.Gly808Ala) rs121912948
NM_080680.3(COL11A2):c.2426C>T (p.Pro809Leu)
NM_080680.3(COL11A2):c.2431G>T (p.Gly811Trp)
NM_080680.3(COL11A2):c.2447C>T (p.Pro816Leu) rs2150560204
NM_080680.3(COL11A2):c.2458G>A (p.Gly820Ser)
NM_080680.3(COL11A2):c.2459G>A (p.Gly820Asp)
NM_080680.3(COL11A2):c.2461G>T (p.Ala821Ser)
NM_080680.3(COL11A2):c.2464A>C (p.Ser822Arg)
NM_080680.3(COL11A2):c.2465G>C (p.Ser822Thr)
NM_080680.3(COL11A2):c.2480C>G (p.Ala827Gly) rs1770563308
NM_080680.3(COL11A2):c.2482C>T (p.Arg828Trp)
NM_080680.3(COL11A2):c.2483G>A (p.Arg828Gln)
NM_080680.3(COL11A2):c.2485-3C>A
NM_080680.3(COL11A2):c.2516A>T (p.Glu839Val) rs1770531178
NM_080680.3(COL11A2):c.2529G>A (p.Thr843=)
NM_080680.3(COL11A2):c.2551C>A (p.Pro851Thr) rs2150558490
NM_080680.3(COL11A2):c.2571G>T (p.Lys857Asn)
NM_080680.3(COL11A2):c.2572T>C (p.Ser858Pro) rs2150558401
NM_080680.3(COL11A2):c.2583+3G>A
NM_080680.3(COL11A2):c.2583+5A>G
NM_080680.3(COL11A2):c.2583+6T>C
NM_080680.3(COL11A2):c.2584-3C>T
NM_080680.3(COL11A2):c.2590T>A (p.Ser864Thr)
NM_080680.3(COL11A2):c.2596G>C (p.Gly866Arg)
NM_080680.3(COL11A2):c.2608C>A (p.His870Asn)
NM_080680.3(COL11A2):c.2611G>T (p.Gly871Trp)
NM_080680.3(COL11A2):c.2627G>T (p.Arg876Met) rs745859259
NM_080680.3(COL11A2):c.2635C>T (p.Pro879Ser)
NM_080680.3(COL11A2):c.2639G>A (p.Gly880Glu)
NM_080680.3(COL11A2):c.2648G>C (p.Gly883Ala)
NM_080680.3(COL11A2):c.2681C>G (p.Pro894Arg)
NM_080680.3(COL11A2):c.2690C>T (p.Pro897Leu)
NM_080680.3(COL11A2):c.2698G>C (p.Asp900His)
NM_080680.3(COL11A2):c.269T>G (p.Val90Gly)
NM_080680.3(COL11A2):c.26_28dup (p.Arg9dup) rs1270100405
NM_080680.3(COL11A2):c.2700T>G (p.Asp900Glu)
NM_080680.3(COL11A2):c.2700_2701delinsCC (p.Gly901Arg) rs2150555407
NM_080680.3(COL11A2):c.2700_2701inv (p.Gly901Arg)
NM_080680.3(COL11A2):c.2746G>C (p.Gly916Arg)
NM_080680.3(COL11A2):c.2774G>C (p.Gly925Ala)
NM_080680.3(COL11A2):c.2790+5G>A
NM_080680.3(COL11A2):c.2795C>G (p.Ala932Gly)
NM_080680.3(COL11A2):c.2797G>A (p.Ala933Thr) rs886043811
NM_080680.3(COL11A2):c.27CCT[6] (p.Leu14dup) rs754766796
NM_080680.3(COL11A2):c.2817G>A (p.Met939Ile)
NM_080680.3(COL11A2):c.2817G>C (p.Met939Ile) rs536659371
NM_080680.3(COL11A2):c.2817G>T (p.Met939Ile)
NM_080680.3(COL11A2):c.2819G>A (p.Gly940Glu)
NM_080680.3(COL11A2):c.2827G>A (p.Gly943Ser)
NM_080680.3(COL11A2):c.2852C>T (p.Pro951Leu) rs1770261401
NM_080680.3(COL11A2):c.2869C>A (p.Pro957Thr)
NM_080680.3(COL11A2):c.2881G>A (p.Gly961Arg)
NM_080680.3(COL11A2):c.2894C>G (p.Thr965Arg)
NM_080680.3(COL11A2):c.2896A>G (p.Lys966Glu)
NM_080680.3(COL11A2):c.28C>T (p.Leu10Phe)
NM_080680.3(COL11A2):c.2902G>A (p.Asp968Asn)
NM_080680.3(COL11A2):c.2933A>C (p.Asp978Ala)
NM_080680.3(COL11A2):c.295C>A (p.Pro99Thr) rs1772781423
NM_080680.3(COL11A2):c.2962G>A (p.Gly988Arg)
NM_080680.3(COL11A2):c.2989-7T>G
NM_080680.3(COL11A2):c.2998G>A (p.Gly1000Ser)
NM_080680.3(COL11A2):c.29T>G (p.Leu10Arg) rs2150637256
NM_080680.3(COL11A2):c.2T>C (p.Met1Thr)
NM_080680.3(COL11A2):c.3003G>A (p.Leu1001=)
NM_080680.3(COL11A2):c.3005A>G (p.Lys1002Arg)
NM_080680.3(COL11A2):c.3013G>A (p.Glu1005Lys)
NM_080680.3(COL11A2):c.3015A>T (p.Glu1005Asp) rs1770170594
NM_080680.3(COL11A2):c.3021G>T (p.Pro1007=)
NM_080680.3(COL11A2):c.3028C>T (p.Pro1010Ser)
NM_080680.3(COL11A2):c.3031C>A (p.Pro1011Thr) rs997533180
NM_080680.3(COL11A2):c.3042+11G>C
NM_080680.3(COL11A2):c.3042+11G>T
NM_080680.3(COL11A2):c.3047C>A (p.Ser1016Tyr)
NM_080680.3(COL11A2):c.3055G>C (p.Glu1019Gln) rs749200697
NM_080680.3(COL11A2):c.3056A>G (p.Glu1019Gly) rs2150548250
NM_080680.3(COL11A2):c.3083C>A (p.Pro1028His) rs549544364
NM_080680.3(COL11A2):c.3092C>G (p.Pro1031Arg)
NM_080680.3(COL11A2):c.3118C>T (p.Pro1040Ser)
NM_080680.3(COL11A2):c.3134G>A (p.Gly1045Glu) rs1337293103
NM_080680.3(COL11A2):c.3151-7C>A rs2150546958
NM_080680.3(COL11A2):c.3184G>A (p.Asp1062Asn) rs2150546768
NM_080680.3(COL11A2):c.3194A>G (p.Gln1065Arg) rs1405415074
NM_080680.3(COL11A2):c.3220G>C (p.Ala1074Pro)
NM_080680.3(COL11A2):c.3251G>A (p.Gly1084Glu)
NM_080680.3(COL11A2):c.3258+3G>A
NM_080680.3(COL11A2):c.3272A>G (p.Asp1091Gly) rs2150545796
NM_080680.3(COL11A2):c.3274C>T (p.Pro1092Ser)
NM_080680.3(COL11A2):c.3280C>G (p.Gln1094Glu)
NM_080680.3(COL11A2):c.329G>C (p.Arg110Pro)
NM_080680.3(COL11A2):c.3309A>G (p.Glu1103=)
NM_080680.3(COL11A2):c.3313-11_3313-10delinsTA
NM_080680.3(COL11A2):c.3313-3C>T rs755108811
NM_080680.3(COL11A2):c.3316C>T (p.Pro1106Ser)
NM_080680.3(COL11A2):c.3365C>G (p.Ala1122Gly) rs748271072
NM_080680.3(COL11A2):c.3366G>A (p.Ala1122=)
NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr) rs886061316
NM_080680.3(COL11A2):c.341_352del (p.Leu114_Gly117del)
NM_080680.3(COL11A2):c.3439G>A (p.Gly1147Arg) rs2150542965
NM_080680.3(COL11A2):c.3463A>G (p.Ile1155Val)
NM_080680.3(COL11A2):c.3474+3G>A
NM_080680.3(COL11A2):c.3475G>C (p.Gly1159Arg)
NM_080680.3(COL11A2):c.3494G>A (p.Gly1165Glu) rs2150541078
NM_080680.3(COL11A2):c.349G>C (p.Gly117Arg)
NM_080680.3(COL11A2):c.3507_3515del (p.Glu1169_Gly1171del)
NM_080680.3(COL11A2):c.3518T>C (p.Val1173Ala)
NM_080680.3(COL11A2):c.3529-3_3529-2insG
NM_080680.3(COL11A2):c.352C>G (p.Arg118Gly) rs1433241638
NM_080680.3(COL11A2):c.3532C>T (p.Pro1178Ser) rs1769860121
NM_080680.3(COL11A2):c.3535C>T (p.Pro1179Ser) rs2150539654
NM_080680.3(COL11A2):c.3536C>G (p.Pro1179Arg) rs2150539639
NM_080680.3(COL11A2):c.353G>A (p.Arg118Gln) rs41268014
NM_080680.3(COL11A2):c.353G>T (p.Arg118Leu)
NM_080680.3(COL11A2):c.3541C>T (p.Pro1181Ser)
NM_080680.3(COL11A2):c.3545C>G (p.Pro1182Arg) rs1411737210
NM_080680.3(COL11A2):c.3545C>T (p.Pro1182Leu)
NM_080680.3(COL11A2):c.3562G>A (p.Ala1188Thr)
NM_080680.3(COL11A2):c.3568C>T (p.Pro1190Ser)
NM_080680.3(COL11A2):c.356C>T (p.Pro119Leu)
NM_080680.3(COL11A2):c.3575G>A (p.Gly1192Asp)
NM_080680.3(COL11A2):c.3577G>A (p.Ala1193Thr)
NM_080680.3(COL11A2):c.3582+3G>A
NM_080680.3(COL11A2):c.358G>A (p.Val120Ile)
NM_080680.3(COL11A2):c.3604G>A (p.Gly1202Ser)
NM_080680.3(COL11A2):c.3608T>C (p.Val1203Ala)
NM_080680.3(COL11A2):c.3623C>A (p.Pro1208His)
NM_080680.3(COL11A2):c.3636+13G>T
NM_080680.3(COL11A2):c.3662C>T (p.Pro1221Leu) rs1562323483
NM_080680.3(COL11A2):c.3703G>A (p.Glu1235Lys)
NM_080680.3(COL11A2):c.3739G>C (p.Glu1247Gln) rs750311375
NM_080680.3(COL11A2):c.3776A>C (p.Asp1259Ala)
NM_080680.3(COL11A2):c.3777T>A (p.Asp1259Glu)
NM_080680.3(COL11A2):c.3798+12G>T
NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)
NM_080680.3(COL11A2):c.3829C>G (p.Pro1277Ala)
NM_080680.3(COL11A2):c.3832C>T (p.Pro1278Ser)
NM_080680.3(COL11A2):c.3839A>T (p.Glu1280Val)
NM_080680.3(COL11A2):c.3842G>T (p.Gly1281Val)
NM_080680.3(COL11A2):c.3851G>T (p.Arg1284Leu)
NM_080680.3(COL11A2):c.3852G>A (p.Arg1284=)
NM_080680.3(COL11A2):c.3878G>C (p.Arg1293Pro)
NM_080680.3(COL11A2):c.389G>A (p.Arg130Gln)
NM_080680.3(COL11A2):c.3906+7G>A
NM_080680.3(COL11A2):c.3919C>A (p.Pro1307Thr) rs2150530638
NM_080680.3(COL11A2):c.3933T>G (p.Asn1311Lys)
NM_080680.3(COL11A2):c.3937C>A (p.Pro1313Thr)
NM_080680.3(COL11A2):c.3940C>T (p.Pro1314Ser) rs1480175398
NM_080680.3(COL11A2):c.3943G>A (p.Gly1315Arg)
NM_080680.3(COL11A2):c.3944G>A (p.Gly1315Glu)
NM_080680.3(COL11A2):c.3946C>T (p.Pro1316Ser) rs2229784
NM_080680.3(COL11A2):c.3959G>T (p.Arg1320Leu) rs372143434
NM_080680.3(COL11A2):c.3960+13G>A
NM_080680.3(COL11A2):c.3960+14_3960+15insT
NM_080680.3(COL11A2):c.3964C>T (p.Pro1322Ser)
NM_080680.3(COL11A2):c.3965C>T (p.Pro1322Leu)
NM_080680.3(COL11A2):c.3983C>A (p.Ser1328Tyr)
NM_080680.3(COL11A2):c.3995_3997del (p.Gln1332_Gly1333delinsArg) rs2150527286
NM_080680.3(COL11A2):c.3999_4000delinsGC (p.Gly1334Arg) rs797044765
NM_080680.3(COL11A2):c.4015-3C>A
NM_080680.3(COL11A2):c.4030A>G (p.Ile1344Val)
NM_080680.3(COL11A2):c.403T>C (p.Ser135Pro)
NM_080680.3(COL11A2):c.4064C>T (p.Pro1355Leu)
NM_080680.3(COL11A2):c.4066G>A (p.Ala1356Thr) rs764870047
NM_080680.3(COL11A2):c.406C>A (p.Gln136Lys) rs2150622896
NM_080680.3(COL11A2):c.4070G>T (p.Gly1357Val)
NM_080680.3(COL11A2):c.4115G>C (p.Gly1372Ala)
NM_080680.3(COL11A2):c.4121T>C (p.Val1374Ala)
NM_080680.3(COL11A2):c.4154A>G (p.Gln1385Arg)
NM_080680.3(COL11A2):c.4193C>T (p.Pro1398Leu)
NM_080680.3(COL11A2):c.419G>A (p.Arg140Gln)
NM_080680.3(COL11A2):c.4207G>A (p.Asp1403Asn)
NM_080680.3(COL11A2):c.4221G>C (p.Lys1407Asn)
NM_080680.3(COL11A2):c.4229A>C (p.Lys1410Thr)
NM_080680.3(COL11A2):c.4230+3G>C
NM_080680.3(COL11A2):c.4240G>A (p.Gly1414Ser)
NM_080680.3(COL11A2):c.4241G>T (p.Gly1414Val)
NM_080680.3(COL11A2):c.4247T>C (p.Ile1416Thr) rs1428147039
NM_080680.3(COL11A2):c.4261C>T (p.Pro1421Ser)
NM_080680.3(COL11A2):c.426_431dup (p.Ser143_Leu144dup) rs765753806
NM_080680.3(COL11A2):c.4273C>G (p.Gln1425Glu)
NM_080680.3(COL11A2):c.4284G>T (p.Lys1428Asn)
NM_080680.3(COL11A2):c.4288G>A (p.Asp1430Asn)
NM_080680.3(COL11A2):c.4288G>T (p.Asp1430Tyr) rs985479138
NM_080680.3(COL11A2):c.4289A>T (p.Asp1430Val)
NM_080680.3(COL11A2):c.4304G>C (p.Gly1435Ala) rs2150522387
NM_080680.3(COL11A2):c.4311G>C (p.Gln1437His)
NM_080680.3(COL11A2):c.4338+5G>A rs2150522213
NM_080680.3(COL11A2):c.4339G>A (p.Gly1447Ser)
NM_080680.3(COL11A2):c.4352C>T (p.Ala1451Val) rs1769174538
NM_080680.3(COL11A2):c.4357G>A (p.Gly1453Ser) rs771888326
NM_080680.3(COL11A2):c.4364T>C (p.Ile1455Thr)
NM_080680.3(COL11A2):c.4366G>C (p.Gly1456Arg) rs2150521401
NM_080680.3(COL11A2):c.4369C>T (p.Pro1457Ser) rs1562310536
NM_080680.3(COL11A2):c.4376G>C (p.Gly1459Ala)
NM_080680.3(COL11A2):c.4376_4378dup (p.Gly1459_Pro1460insArg)
NM_080680.3(COL11A2):c.4378C>A (p.Pro1460Thr)
NM_080680.3(COL11A2):c.4378C>T (p.Pro1460Ser)
NM_080680.3(COL11A2):c.437A>C (p.Asp146Ala)
NM_080680.3(COL11A2):c.4391C>G (p.Pro1464Arg) rs944163816
NM_080680.3(COL11A2):c.4399G>A (p.Ala1467Thr)
NM_080680.3(COL11A2):c.4408A>G (p.Lys1470Glu) rs2150520058
NM_080680.3(COL11A2):c.4409A>C (p.Lys1470Thr) rs897406698
NM_080680.3(COL11A2):c.4409A>G (p.Lys1470Arg) rs897406698
NM_080680.3(COL11A2):c.4415C>G (p.Ala1472Gly)
NM_080680.3(COL11A2):c.443+4A>G
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg) rs1172866556
NM_080680.3(COL11A2):c.4469C>T (p.Pro1490Leu)
NM_080680.3(COL11A2):c.4487C>G (p.Pro1496Arg) rs2150518104
NM_080680.3(COL11A2):c.4503C>G (p.Ile1501Met) rs2150517917
NM_080680.3(COL11A2):c.451C>A (p.Arg151Ser)
NM_080680.3(COL11A2):c.4540C>T (p.Arg1514Cys) rs780071501
NM_080680.3(COL11A2):c.4550A>G (p.Asp1517Gly) rs1769033329
NM_080680.3(COL11A2):c.4580C>T (p.Ala1527Val) rs1769028634
NM_080680.3(COL11A2):c.4591G>C (p.Gly1531Arg) rs566171449
NM_080680.3(COL11A2):c.4594G>A (p.Gly1532Arg) rs2150517329
NM_080680.3(COL11A2):c.4599_4600delinsGT (p.Pro1534Ser)
NM_080680.3(COL11A2):c.4603G>C (p.Gly1535Arg)
NM_080680.3(COL11A2):c.4604G>T (p.Gly1535Val)
NM_080680.3(COL11A2):c.4612G>T (p.Gly1538Trp)
NM_080680.3(COL11A2):c.4621GAG[1] (p.Glu1542del)
NM_080680.3(COL11A2):c.4652G>C (p.Arg1551Pro)
NM_080680.3(COL11A2):c.4678C>G (p.Pro1560Ala)
NM_080680.3(COL11A2):c.4702G>A (p.Ala1568Thr)
NM_080680.3(COL11A2):c.4709C>G (p.Thr1570Ser)
NM_080680.3(COL11A2):c.4709C>T (p.Thr1570Ile) rs2150516466
NM_080680.3(COL11A2):c.4741C>T (p.Leu1581Phe)
NM_080680.3(COL11A2):c.4766A>G (p.Asp1589Gly)
NM_080680.3(COL11A2):c.4777G>A (p.Gly1593Ser) rs1369015834
NM_080680.3(COL11A2):c.4787G>A (p.Arg1596Gln)
NM_080680.3(COL11A2):c.4826G>A (p.Gly1609Asp) rs779957849
NM_080680.3(COL11A2):c.4832C>A (p.Thr1611Asn)
NM_080680.3(COL11A2):c.4843C>T (p.Pro1615Ser)
NM_080680.3(COL11A2):c.4847G>A (p.Arg1616Lys)
NM_080680.3(COL11A2):c.4854C>A (p.Asp1618Glu)
NM_080680.3(COL11A2):c.4862A>G (p.Gln1621Arg) rs2150513204
NM_080680.3(COL11A2):c.4863+3G>A
NM_080680.3(COL11A2):c.4873G>C (p.Val1625Leu)
NM_080680.3(COL11A2):c.4879T>G (p.Ser1627Ala) rs2150511349
NM_080680.3(COL11A2):c.4921C>T (p.Arg1641Trp) rs2150511088
NM_080680.3(COL11A2):c.4934T>C (p.Val1645Ala)
NM_080680.3(COL11A2):c.4951G>T (p.Val1651Phe) rs766589324
NM_080680.3(COL11A2):c.4952T>C (p.Val1651Ala) rs1350210126
NM_080680.3(COL11A2):c.4963T>G (p.Cys1655Gly)
NM_080680.3(COL11A2):c.4991T>G (p.Leu1664Arg)
NM_080680.3(COL11A2):c.4994G>A (p.Arg1665Lys)
NM_080680.3(COL11A2):c.4999C>A (p.Arg1667Ser) rs759322344
NM_080680.3(COL11A2):c.4G>A (p.Glu2Lys)
NM_080680.3(COL11A2):c.5011G>A (p.Glu1671Lys) rs1562301463
NM_080680.3(COL11A2):c.5027C>A (p.Pro1676Gln) rs769990941
NM_080680.3(COL11A2):c.502A>G (p.Lys168Glu) rs2150620648
NM_080680.3(COL11A2):c.5032_5044del (p.Thr1678fs)
NM_080680.3(COL11A2):c.5035A>G (p.Ser1679Gly)
NM_080680.3(COL11A2):c.5070+5G>A
NM_080680.3(COL11A2):c.5070+5G>C rs1310527404
NM_080680.3(COL11A2):c.5070+6A>T
NM_080680.3(COL11A2):c.5071-1G>A
NM_080680.3(COL11A2):c.5083C>G (p.Arg1695Gly)
NM_080680.3(COL11A2):c.5111T>G (p.Val1704Gly)
NM_080680.3(COL11A2):c.5116G>A (p.Glu1706Lys) rs2150508180
NM_080680.3(COL11A2):c.511G>C (p.Val171Leu) rs1018328130
NM_080680.3(COL11A2):c.5125C>T (p.Pro1709Ser) rs1184038252
NM_080680.3(COL11A2):c.5152C>G (p.Leu1718Val) rs1413052565
NM_080680.3(COL11A2):c.5179G>A (p.Val1727Met) rs746315682
NM_080680.3(COL11A2):c.5179G>T (p.Val1727Leu)
NM_080680.3(COL11A2):c.518G>A (p.Arg173Gln)
NM_080680.3(COL11A2):c.5194G>C (p.Val1732Leu)
NM_080680.3(COL11A2):c.5210A>G (p.Ter1737Trp)
NM_080680.3(COL11A2):c.539G>C (p.Arg180Pro)
NM_080680.3(COL11A2):c.544G>T (p.Val182Leu) rs375937729
NM_080680.3(COL11A2):c.55G>C (p.Gly19Arg) rs1773202958
NM_080680.3(COL11A2):c.572T>G (p.Phe191Cys)
NM_080680.3(COL11A2):c.574G>T (p.Gly192Cys)
NM_080680.3(COL11A2):c.581G>A (p.Arg194His)
NM_080680.3(COL11A2):c.588G>A (p.Leu196=) rs1162181057
NM_080680.3(COL11A2):c.599T>G (p.Val200Gly)
NM_080680.3(COL11A2):c.625G>A (p.Ala209Thr)
NM_080680.3(COL11A2):c.63C>A (p.Ser21Arg)
NM_080680.3(COL11A2):c.646G>T (p.Ala216Ser)
NM_080680.3(COL11A2):c.647C>A (p.Ala216Glu) rs1772475565
NM_080680.3(COL11A2):c.653A>T (p.Tyr218Phe)
NM_080680.3(COL11A2):c.687G>C (p.Glu229Asp)
NM_080680.3(COL11A2):c.688G>A (p.Gly230Arg) rs141430703
NM_080680.3(COL11A2):c.710A>C (p.Gln237Pro)
NM_080680.3(COL11A2):c.751C>A (p.Gln251Lys) rs2150612780
NM_080680.3(COL11A2):c.772C>G (p.Pro258Ala)
NM_080680.3(COL11A2):c.77_78delinsTT (p.Trp26Phe)
NM_080680.3(COL11A2):c.79G>A (p.Ala27Thr) rs1773197010
NM_080680.3(COL11A2):c.80C>T (p.Ala27Val)
NM_080680.3(COL11A2):c.82+4A>G
NM_080680.3(COL11A2):c.82+6A>G
NM_080680.3(COL11A2):c.82+6_82+7del rs1241681013
NM_080680.3(COL11A2):c.826_827delinsAG (p.Glu276Arg)
NM_080680.3(COL11A2):c.83-17A>G
NM_080680.3(COL11A2):c.850A>G (p.Thr284Ala)
NM_080680.3(COL11A2):c.851C>T (p.Thr284Ile)
NM_080680.3(COL11A2):c.865C>G (p.Pro289Ala) rs1772325749
NM_080680.3(COL11A2):c.86C>T (p.Ala29Val) rs2150625714
NM_080680.3(COL11A2):c.874C>G (p.Gln292Glu)
NM_080680.3(COL11A2):c.876+4A>C
NM_080680.3(COL11A2):c.877G>A (p.Asp293Asn) rs1772218331
NM_080680.3(COL11A2):c.89C>T (p.Pro30Leu)
NM_080680.3(COL11A2):c.910G>C (p.Glu304Gln)
NM_080680.3(COL11A2):c.919C>T (p.Leu307Phe)
NM_080680.3(COL11A2):c.94G>A (p.Val32Met)
NM_080680.3(COL11A2):c.965C>T (p.Pro322Leu)
NM_080680.3(COL11A2):c.96G>A (p.Val32=)
NM_080680.3(COL11A2):c.975C>T (p.Asp325=)
NM_080680.3(COL11A2):c.977G>A (p.Arg326Lys)
NM_080680.3(COL11A2):c.997G>A (p.Gly333Arg) rs2150601430

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