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)
|
|
|