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
|
|