ClinVar Miner

List of variants in gene COL11A1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 446
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HGVS dbSNP
COL11A1, 1-BP INS, 3816T
COL11A1, 4-BP DEL, EX50/IVS50
COL11A1, 54-BP EX DEL, AS, AG-TG
GRCh37/hg19 1p21.1(chr1:103155605-103510258)x3
GRCh37/hg19 1p21.1(chr1:103230040-103510097)x3
GRCh37/hg19 1p21.1(chr1:103277571-103510258)x3
GRCh37/hg19 1p21.1(chr1:103277571-103548497)x3
GRCh37/hg19 1p21.1(chr1:103328723-103384168)x3
GRCh37/hg19 1p21.1(chr1:103328723-103391806)x3
GRCh37/hg19 1p21.1(chr1:103328723-103498007)x3
GRCh37/hg19 1p21.1(chr1:103328723-103548505)x3
GRCh37/hg19 1p21.1(chr1:103328723-103548782)x3
GRCh37/hg19 1p21.1(chr1:103328723-103569945)x3
GRCh37/hg19 1p21.1(chr1:103342392-103391715)x3
GRCh37/hg19 1p21.1(chr1:103342392-103497583)x3
GRCh37/hg19 1p21.1(chr1:103342392-103497951)x3
GRCh37/hg19 1p21.1(chr1:103342392-103507254)x3
GRCh37/hg19 1p21.1(chr1:103342392-103507742)x3
GRCh37/hg19 1p21.1(chr1:103342392-103508817)x3
GRCh37/hg19 1p21.1(chr1:103342392-103510258)x3
GRCh37/hg19 1p21.1(chr1:103342392-103510756)x3
GRCh37/hg19 1p21.1(chr1:103342392-103548505)x3
GRCh37/hg19 1p21.1(chr1:103342392-103548782)x3
GRCh37/hg19 1p21.1(chr1:103343421-103482614)x3
GRCh37/hg19 1p21.1(chr1:103343421-103510258)x3
GRCh37/hg19 1p21.1(chr1:103343583-103510097)x3
GRCh37/hg19 1p21.1(chr1:103343583-103510258)x3
GRCh37/hg19 1p21.1(chr1:103343583-103548497)x3
GRCh37/hg19 1p21.1(chr1:103346245-103482614)x3
GRCh37/hg19 1p21.1(chr1:103346245-103550401)x3
GRCh37/hg19 1p21.1(chr1:103350881-103548497)x3
GRCh37/hg19 1p21.1(chr1:103351323-103375747)x3
GRCh37/hg19 1p21.1(chr1:103351323-103510097)x1
GRCh37/hg19 1p21.1(chr1:103351323-103539196)x3
GRCh37/hg19 1p21.1(chr1:103351323-103548497)x3
GRCh37/hg19 1p21.1(chr1:103351323-103567908)x3
GRCh37/hg19 1p21.1(chr1:103353792-103391621)x3
GRCh37/hg19 1p21.1(chr1:103487914-103601156)x3
GRCh37/hg19 1p21.1(chr1:103517472-103548497)x3
GRCh37/hg19 1p21.1(chr1:103517755-103539196)x3
GRCh37/hg19 1p21.1(chr1:103530782-103539196)x4
GRCh37/hg19 1p21.1(chr1:103530782-103548497)x3
GRCh37/hg19 1p21.1(chr1:103530782-103548782)x3
GRCh37/hg19 1p21.1(chr1:103530782-103550401)x3
GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1
NC_000001.11:g.102897895dup
NC_000001.11:g.102915337_102915340del
NC_000001.11:g.102921104G>A
NC_000001.11:g.102923244_102923245del
NC_000001.11:g.102934362del
NC_000001.11:g.102934855_102934858del
NC_000001.11:g.102995952T>A
NC_000001.11:g.103004916_103004919del
NC_000001.11:g.103012270dup
NC_000001.11:g.103018051del
NC_000001.11:g.103023047_103023048del
NC_000001.11:g.103026623_103026624del
NC_000001.11:g.103082607_103082611del
NC_000001.11:g.103082763C>G
NM_001854.3(COL11A1):c.1792-12_1792-10dupATG rs71752747
NM_001854.3(COL11A1):c.1792-15_1792-10delATGATG rs71752747
NM_001854.3(COL11A1):c.1792-15_1792-10dupATGATG rs71752747
NM_001854.3(COL11A1):c.3817-13delT rs34228277
NM_001854.3(COL11A1):c.4303-13delT rs35232764
NM_001854.3(COL11A1):c.4303-13dupT rs35232764
NM_001854.3(COL11A1):c.4357-16dupT rs748850423
NM_001854.3(COL11A1):c.652-6dupT rs36076089
NM_001854.3(COL11A1):c.652-7_652-6delTT rs36076089
NM_001854.3(COL11A1):c.652-7_652-6dupTT rs36076089
NM_001854.3(COL11A1):c.991-14delA rs768258098
NM_001854.4(COL11A1):c.*105C>T rs1031820
NM_001854.4(COL11A1):c.*1091A>T rs41292523
NM_001854.4(COL11A1):c.*1105C>T rs12073619
NM_001854.4(COL11A1):c.*1183A>G rs9659030
NM_001854.4(COL11A1):c.*1203G>A rs190577885
NM_001854.4(COL11A1):c.*1227T>A rs538679983
NM_001854.4(COL11A1):c.*1239T>C rs886044969
NM_001854.4(COL11A1):c.*1488G>C rs886044968
NM_001854.4(COL11A1):c.*17A>G rs190728953
NM_001854.4(COL11A1):c.*240A>G rs886044972
NM_001854.4(COL11A1):c.*301A>G rs12731575
NM_001854.4(COL11A1):c.*508G>A rs3088150
NM_001854.4(COL11A1):c.*579A>G rs536837264
NM_001854.4(COL11A1):c.*628dup rs532806397
NM_001854.4(COL11A1):c.*632G>A rs74108029
NM_001854.4(COL11A1):c.*687C>T rs186072680
NM_001854.4(COL11A1):c.*715A>G rs886044971
NM_001854.4(COL11A1):c.*809C>T rs143875783
NM_001854.4(COL11A1):c.*953G>C rs886044970
NM_001854.4(COL11A1):c.-188G>A rs372541219
NM_001854.4(COL11A1):c.-198_-195del rs886044981
NM_001854.4(COL11A1):c.-220T>C rs886044982
NM_001854.4(COL11A1):c.-231dup rs886044983
NM_001854.4(COL11A1):c.-258C>A rs886044984
NM_001854.4(COL11A1):c.-50A>G rs369810404
NM_001854.4(COL11A1):c.-75C>T rs886044980
NM_001854.4(COL11A1):c.-78T>A rs12025921
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter) rs776004614
NM_001854.4(COL11A1):c.1011A>T (p.Ile337=) rs563115409
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn) rs199942159
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=)
NM_001854.4(COL11A1):c.106+138T>C
NM_001854.4(COL11A1):c.106+82C>T
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.107-12C>T rs200564243
NM_001854.4(COL11A1):c.1155A>C (p.Glu385Asp) rs1057524404
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) rs538837278
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=) rs371490794
NM_001854.4(COL11A1):c.1308+19A>G rs34587338
NM_001854.4(COL11A1):c.1308+20C>A
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594
NM_001854.4(COL11A1):c.1350+11G>A
NM_001854.4(COL11A1):c.1351-76G>A
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663
NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile)
NM_001854.4(COL11A1):c.1413+156T>A
NM_001854.4(COL11A1):c.1413+18A>T rs17461252
NM_001854.4(COL11A1):c.1413+47A>G
NM_001854.4(COL11A1):c.1414-226A>G
NM_001854.4(COL11A1):c.1414-9T>A rs794727062
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr) rs150428394
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429
NM_001854.4(COL11A1):c.1488G>A (p.Pro496=) rs772310071
NM_001854.4(COL11A1):c.1489-5C>A rs370997745
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly) rs771139447
NM_001854.4(COL11A1):c.1573-15T>C rs772291375
NM_001854.4(COL11A1):c.1629+150T>C
NM_001854.4(COL11A1):c.1629+1G>A rs1553234339
NM_001854.4(COL11A1):c.1630-13T>C rs370547604
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1635G>A (p.Gly545=) rs746478999
NM_001854.4(COL11A1):c.1683+20C>G rs373143275
NM_001854.4(COL11A1):c.1684-7G>C rs201494436
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp) rs886039743
NM_001854.4(COL11A1):c.168_170AAC[1] (p.Thr58del) rs1553253791
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del) rs1557932876
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) rs199835797
NM_001854.4(COL11A1):c.1899+16T>G rs767808576
NM_001854.4(COL11A1):c.1899+3A>G rs374676938
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)
NM_001854.4(COL11A1):c.1944+11T>C rs71664954
NM_001854.4(COL11A1):c.1945-19C>T
NM_001854.4(COL11A1):c.1945-7C>A rs201424786
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg) rs199875795
NM_001854.4(COL11A1):c.1961T>C (p.Leu654Pro) rs1131691449
NM_001854.4(COL11A1):c.1998+11C>T rs375664445
NM_001854.4(COL11A1):c.1998+4T>A rs12136577
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653
NM_001854.4(COL11A1):c.2043+8G>A rs2622875
NM_001854.4(COL11A1):c.2097+18C>A rs75124465
NM_001854.4(COL11A1):c.2097+3A>G rs770210430
NM_001854.4(COL11A1):c.2098-90G>A
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655
NM_001854.4(COL11A1):c.2142+258A>G
NM_001854.4(COL11A1):c.2142+263G>A
NM_001854.4(COL11A1):c.2143-15T>C rs886044979
NM_001854.4(COL11A1):c.2143-291A>G
NM_001854.4(COL11A1):c.2143-315A>G
NM_001854.4(COL11A1):c.2143-57C>A
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601
NM_001854.4(COL11A1):c.2196+183G>A
NM_001854.4(COL11A1):c.2196+303A>T
NM_001854.4(COL11A1):c.2197-10C>T rs1057521170
NM_001854.4(COL11A1):c.2197-240C>T
NM_001854.4(COL11A1):c.2241+6T>C rs374197371
NM_001854.4(COL11A1):c.2241+89C>T
NM_001854.4(COL11A1):c.2295+37A>T rs2622867
NM_001854.4(COL11A1):c.2295+5C>T rs369103119
NM_001854.4(COL11A1):c.2296-19C>T rs776330050
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.4(COL11A1):c.2341-90G>A
NM_001854.4(COL11A1):c.2470G>A (p.Asp824Asn) rs1064796668
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu) rs1252968708
NM_001854.4(COL11A1):c.2485_2486insAAG (p.Gly829_Gln830insGlu) rs1553227204
NM_001854.4(COL11A1):c.2502+317A>G
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu) rs1308067070
NM_001854.4(COL11A1):c.2556+14A>G rs1365339245
NM_001854.4(COL11A1):c.2556+239C>A
NM_001854.4(COL11A1):c.2556+293del
NM_001854.4(COL11A1):c.2556+92T>A rs550991929
NM_001854.4(COL11A1):c.2556+96C>G
NM_001854.4(COL11A1):c.2557-138G>A
NM_001854.4(COL11A1):c.2557-14T>C rs546175264
NM_001854.4(COL11A1):c.2557-8T>C
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164
NM_001854.4(COL11A1):c.2610+18G>A
NM_001854.4(COL11A1):c.2611-19A>C rs11164649
NM_001854.4(COL11A1):c.2611-4C>T rs79505593
NM_001854.4(COL11A1):c.2655+3A>G rs886044978
NM_001854.4(COL11A1):c.2656-12T>C rs769091234
NM_001854.4(COL11A1):c.2656-20T>C rs886038501
NM_001854.4(COL11A1):c.2656-28T>C rs1903787
NM_001854.4(COL11A1):c.2656-4G>T rs1553224423
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602
NM_001854.4(COL11A1):c.2739C>T (p.Gly913=) rs1553224335
NM_001854.4(COL11A1):c.274+42G>C rs11164662
NM_001854.4(COL11A1):c.274+5A>G
NM_001854.4(COL11A1):c.275-14C>T rs370321983
NM_001854.4(COL11A1):c.275-17del rs3841819
NM_001854.4(COL11A1):c.275-7T>C rs12136865
NM_001854.4(COL11A1):c.2754+139T>G
NM_001854.4(COL11A1):c.2754+4C>T
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu) rs1557891760
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725
NM_001854.4(COL11A1):c.2808+14C>G rs1015791965
NM_001854.4(COL11A1):c.2808+1G>A rs1553223152
NM_001854.4(COL11A1):c.2809-107A>G
NM_001854.4(COL11A1):c.2809-313T>C
NM_001854.4(COL11A1):c.2862+200G>C
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015
NM_001854.4(COL11A1):c.2916+3A>G rs200515572
NM_001854.4(COL11A1):c.2917-197C>G
NM_001854.4(COL11A1):c.2917-73C>T
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.4(COL11A1):c.2927G>T (p.Gly976Val) rs121912944
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp) rs1557877041
NM_001854.4(COL11A1):c.3024+13T>C rs201141572
NM_001854.4(COL11A1):c.3025-23A>T rs55682104
NM_001854.4(COL11A1):c.3025-6C>T rs780046337
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220
NM_001854.4(COL11A1):c.3168+15A>G rs1012281
NM_001854.4(COL11A1):c.3168+277G>A
NM_001854.4(COL11A1):c.3168+41T>C rs1012282
NM_001854.4(COL11A1):c.3168+9G>A rs1553218164
NM_001854.4(COL11A1):c.3169-16T>C rs76379510
NM_001854.4(COL11A1):c.3189G>A (p.Gly1063=) rs75915098
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
NM_001854.4(COL11A1):c.3276+334C>A
NM_001854.4(COL11A1):c.3277-13A>C rs371455495
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg) rs141978499
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.4(COL11A1):c.3294A>G (p.Gln1098=) rs1553210866
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001854.4(COL11A1):c.3301G>T (p.Ala1101Ser) rs1557849897
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3384+18G>A rs200425985
NM_001854.4(COL11A1):c.3385-292T>A
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=) rs763588142
NM_001854.4(COL11A1):c.3438+11T>C rs765352070
NM_001854.4(COL11A1):c.3438+268T>C
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=) rs1553208812
NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro) rs767496065
NM_001854.4(COL11A1):c.3600+8G>A rs188045535
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097
NM_001854.4(COL11A1):c.3652A>G (p.Met1218Val) rs951017335
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240
NM_001854.4(COL11A1):c.3708+182G>T
NM_001854.4(COL11A1):c.3708+267G>A
NM_001854.4(COL11A1):c.3708+414C>T
NM_001854.4(COL11A1):c.3709-180G>C
NM_001854.4(COL11A1):c.3709-565A>G
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062
NM_001854.4(COL11A1):c.3762+76G>C
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.3817-17_3817-16insC rs773173330
NM_001854.4(COL11A1):c.3817-25_3817-24dup rs34228277
NM_001854.4(COL11A1):c.3817-25dup rs34228277
NM_001854.4(COL11A1):c.3817-5T>C rs201155391
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp) rs780739712
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085
NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=)
NM_001854.4(COL11A1):c.3924+19C>T rs77901108
NM_001854.4(COL11A1):c.3925-11C>T rs192518657
NM_001854.4(COL11A1):c.3925-16C>T rs201491791
NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter) rs1557812993
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841
NM_001854.4(COL11A1):c.3978+38T>G rs28648038
NM_001854.4(COL11A1):c.3979-10C>T rs1553200898
NM_001854.4(COL11A1):c.3979-14A>T rs186245518
NM_001854.4(COL11A1):c.3979-259G>A
NM_001854.4(COL11A1):c.3979-278A>G
NM_001854.4(COL11A1):c.3979-299T>A
NM_001854.4(COL11A1):c.3979-302T>C
NM_001854.4(COL11A1):c.3979-3T>C rs138464908
NM_001854.4(COL11A1):c.4032+18T>C rs190625412
NM_001854.4(COL11A1):c.4032+204T>A
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.4(COL11A1):c.4033-10C>T rs763204252
NM_001854.4(COL11A1):c.4033-12C>T rs745961028
NM_001854.4(COL11A1):c.4033-295C>A
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) rs755987732
NM_001854.4(COL11A1):c.4086+174C>G
NM_001854.4(COL11A1):c.4087-4A>G rs137999403
NM_001854.4(COL11A1):c.4100C>T (p.Ala1367Val) rs1057518442
NM_001854.4(COL11A1):c.4140+10A>G
NM_001854.4(COL11A1):c.4140+10A>T rs187171126
NM_001854.4(COL11A1):c.4140+13T>A rs374901069
NM_001854.4(COL11A1):c.4140+13del rs781736900
NM_001854.4(COL11A1):c.4141-8T>A rs373760183
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207
NM_001854.4(COL11A1):c.4248+1G>T rs1557789724
NM_001854.4(COL11A1):c.426C>T (p.His142=) rs561435432
NM_001854.4(COL11A1):c.4302+219T>G
NM_001854.4(COL11A1):c.4302+303C>T
NM_001854.4(COL11A1):c.4302+305T>C
NM_001854.4(COL11A1):c.4302+48A>T rs114611626
NM_001854.4(COL11A1):c.4303-100G>A
NM_001854.4(COL11A1):c.4303-312T>C
NM_001854.4(COL11A1):c.4303-47T>C rs11164634
NM_001854.4(COL11A1):c.4357-335C>G
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=)
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)
NM_001854.4(COL11A1):c.4411G>A (p.Gly1471Ser) rs1057522949
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) rs1057521422
NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp) rs1553193913
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.4552A>C (p.Thr1518Pro) rs1057523166
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549
NM_001854.4(COL11A1):c.4608+18A>G rs17127203
NM_001854.4(COL11A1):c.4608+266G>A
NM_001854.4(COL11A1):c.4608+34A>G rs199597559
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172
NM_001854.4(COL11A1):c.4642A>G (p.Ile1548Val) rs1557775198
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=) rs138691968
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=) rs3753842
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.483C>T (p.Asp161=) rs557000127
NM_001854.4(COL11A1):c.4858+287G>A
NM_001854.4(COL11A1):c.4859-19A>G rs146179957
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser) rs377036654
NM_001854.4(COL11A1):c.488+23G>A rs6668897
NM_001854.4(COL11A1):c.488+281T>A
NM_001854.4(COL11A1):c.489-302A>G
NM_001854.4(COL11A1):c.489-7T>G rs372555374
NM_001854.4(COL11A1):c.489-92A>G
NM_001854.4(COL11A1):c.4906A>G (p.Lys1636Glu) rs886044973
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=) rs369265343
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421
NM_001854.4(COL11A1):c.4971+295T>A
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.5041-272G>C
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) rs202065765
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=) rs770392400
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500
NM_001854.4(COL11A1):c.651+14C>T rs1553252290
NM_001854.4(COL11A1):c.651+16A>G rs116303092
NM_001854.4(COL11A1):c.652-17T>G rs555770298
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474
NM_001854.4(COL11A1):c.780+52C>A
NM_001854.4(COL11A1):c.781-380C>A
NM_001854.4(COL11A1):c.781-70T>G rs587782990
NM_001854.4(COL11A1):c.81C>T (p.Leu27=) rs1027288806
NM_001854.4(COL11A1):c.828A>G (p.Ala276=) rs764926559
NM_001854.4(COL11A1):c.828A>T (p.Ala276=) rs764926559
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580
NM_001854.4(COL11A1):c.882A>G (p.Thr294=)
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652
NM_001854.4(COL11A1):c.898-15T>C rs200242905
NM_001854.4(COL11A1):c.898-292A>C
NM_001854.4(COL11A1):c.898-38T>A
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519
NM_001854.4(COL11A1):c.926A>T (p.Tyr309Phe) rs766508371
NM_001854.4(COL11A1):c.973G>T (p.Val325Phe) rs746633493
NM_001854.4(COL11A1):c.990+11T>G rs750665036
NM_001854.4(COL11A1):c.990+69C>T
NM_001854.4(COL11A1):c.990+7C>T rs137867554
NM_080629.2(COL11A1):c.1001C>T (p.Pro334Leu) rs183130583
NM_080629.2(COL11A1):c.1088A>G (p.Gln363Arg) rs751155680
NM_080629.2(COL11A1):c.1226dup (p.Pro409_Asn410insTer) rs1343199316
NM_080629.2(COL11A1):c.1237T>C (p.Phe413Leu) rs141817156
NM_080629.2(COL11A1):c.1345-7G>A rs748684225
NM_080629.2(COL11A1):c.1395G>A (p.Met465Ile) rs755173952
NM_080629.2(COL11A1):c.1573G>C (p.Glu525Gln) rs1288240581
NM_080629.2(COL11A1):c.1778G>A (p.Arg593His) rs769449348
NM_080629.2(COL11A1):c.1822dup (p.Ala608fs) rs730882190
NM_080629.2(COL11A1):c.1828-39ATG[13] rs71752747
NM_080629.2(COL11A1):c.2050G>A (p.Asp684Asn) rs143663917
NM_080629.2(COL11A1):c.2134-4A>T rs759906097
NM_080629.2(COL11A1):c.2179-10dupT rs747240373
NM_080629.2(COL11A1):c.2232+15C>T rs768084384
NM_080629.2(COL11A1):c.2261G>C (p.Gly754Ala) rs886044320
NM_080629.2(COL11A1):c.2386G>C (p.Gly796Arg) rs387906611
NM_080629.2(COL11A1):c.2405G>A (p.Gly802Asp) rs886044242
NM_080629.2(COL11A1):c.2459G>A (p.Gly820Glu) rs754751701
NM_080629.2(COL11A1):c.2646+9T>C rs754222130
NM_080629.2(COL11A1):c.3012T>C (p.Pro1004=) rs368868551
NM_080629.2(COL11A1):c.3164T>C (p.Leu1055Pro) rs886044176
NM_080629.2(COL11A1):c.3204+1G>T rs886042653
NM_080629.2(COL11A1):c.3277G>C (p.Gly1093Arg) rs397514455
NM_080629.2(COL11A1):c.3393C>T (p.Ala1131=) rs375400337
NM_080629.2(COL11A1):c.3463A>C (p.Lys1155Gln)
NM_080629.2(COL11A1):c.3474+2_3474+3delTG rs1557847904
NM_080629.2(COL11A1):c.3529-17T>C rs776451100
NM_080629.2(COL11A1):c.3604T>C (p.Phe1202Leu) rs1377819809
NM_080629.2(COL11A1):c.3683G>A (p.Gly1228Asp)
NM_080629.2(COL11A1):c.3745-1G>A rs727503881
NM_080629.2(COL11A1):c.3815C>A (p.Ala1272Glu) rs750838060
NM_080629.2(COL11A1):c.4020A>G (p.Gln1340=) rs767276283
NM_080629.2(COL11A1):c.4034_4045del (p.Gly1345_Gly1348del) rs886042660
NM_080629.2(COL11A1):c.4068+1G>A rs1553200868
NM_080629.2(COL11A1):c.4084_4101del (p.Ser1362_Pro1367del) rs1553200431
NM_080629.2(COL11A1):c.4176+3A>T rs1553196515
NM_080629.2(COL11A1):c.4338+2T>C rs1553196233
NM_080629.2(COL11A1):c.4356T>C (p.Pro1452=) rs762511819
NM_080629.2(COL11A1):c.4500+17G>A
NM_080629.2(COL11A1):c.4590+1G>C rs886044244
NM_080629.2(COL11A1):c.4591-4A>T
NM_080629.2(COL11A1):c.4895-3T>C rs774985706
NM_080629.2(COL11A1):c.5106C>T (p.Ser1702=) rs1047706446
NM_080629.2(COL11A1):c.510C>T (p.Ser170=) rs749497678
NM_080629.2(COL11A1):c.652-11_652-10insTTG rs776283234
NM_080629.2(COL11A1):c.652-1G>C rs1064797115
NM_080629.2(COL11A1):c.652-2A>C
NM_080629.2(COL11A1):c.652-6delT rs36076089
NM_080629.2(COL11A1):c.781-294del
NM_080629.2(COL11A1):c.781-397T>G rs1553239331

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