ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 938
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00155
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850 0.00113
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_080680.3(COL11A2):c.-226C>T rs886061320 0.00068
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_080680.3(COL11A2):c.1720-4G>T rs369678506 0.00041
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_080680.3(COL11A2):c.1636C>G (p.Arg546Gly) rs149697159 0.00026
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00026
NM_080680.3(COL11A2):c.434C>G (p.Ala145Gly) rs138305560 0.00026
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met) rs570708095 0.00026
NM_080680.3(COL11A2):c.1819-10G>A rs3129202 0.00024
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_080680.3(COL11A2):c.4751-12C>G rs921581176 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp) rs34415548 0.00017
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_080680.3(COL11A2):c.*822C>G rs536130072 0.00015
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984 0.00014
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln) rs371674362 0.00013
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991 0.00012
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser) rs141164483 0.00012
NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu) rs150784358 0.00012
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp) rs369126897 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu) rs140266192 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_080680.3(COL11A2):c.2533C>T (p.Pro845Ser) rs200993927 0.00011
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=) rs746019545 0.00011
NM_080680.3(COL11A2):c.798+64T>C rs760322593 0.00011
NM_080680.3(COL11A2):c.1817C>T (p.Ser606Leu) rs147328015 0.00010
NM_080680.3(COL11A2):c.2417G>A (p.Arg806His) rs200552277 0.00010
NM_080680.3(COL11A2):c.2528C>T (p.Thr843Met) rs770007946 0.00010
NM_080680.3(COL11A2):c.2676A>T (p.Gly892=) rs1405058032 0.00010
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_080680.3(COL11A2):c.5071-7C>G rs200548977 0.00010
NM_080680.3(COL11A2):c.2849C>T (p.Pro950Leu) rs141465781 0.00009
NM_080680.3(COL11A2):c.4000G>C (p.Gly1334Arg) rs200574827 0.00009
NM_080680.3(COL11A2):c.4392C>T (p.Pro1464=) rs372419316 0.00009
NM_080680.3(COL11A2):c.*429G>T rs760188928 0.00008
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys) rs752552097 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_080680.3(COL11A2):c.2326C>T (p.Arg776Cys) rs776701792 0.00008
NM_080680.3(COL11A2):c.539G>A (p.Arg180His) rs142462583 0.00008
NM_080680.3(COL11A2):c.142C>T (p.Arg48Trp) rs151140273 0.00007
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser) rs747029402 0.00007
NM_080680.3(COL11A2):c.2327G>A (p.Arg776His) rs748159740 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser) rs765609390 0.00006
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.2271C>T (p.Gly757=) rs745568808 0.00006
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr) rs371864924 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.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His) rs957902805 0.00006
NM_080680.3(COL11A2):c.3365C>T (p.Ala1122Val) rs748271072 0.00006
NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp) rs768988213 0.00006
NM_080680.3(COL11A2):c.3583-3C>T rs727502939 0.00006
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro) rs145871842 0.00006
NM_080680.3(COL11A2):c.4057G>A (p.Val1353Met) rs752706766 0.00006
NM_080680.3(COL11A2):c.4541G>A (p.Arg1514His) rs756194499 0.00006
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His) rs772567850 0.00006
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His) rs749716412 0.00006
NM_080680.3(COL11A2):c.*544C>G rs199956729 0.00005
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.2591C>A (p.Ser864Tyr) rs373490721 0.00005
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) rs548592690 0.00005
NM_080680.3(COL11A2):c.3675C>T (p.Gly1225=) rs771644818 0.00005
NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln) rs184399988 0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_080680.3(COL11A2):c.579C>T (p.Ala193=) rs201054429 0.00005
NM_080680.3(COL11A2):c.*536C>T rs886061312 0.00004
NM_080680.3(COL11A2):c.1136G>A (p.Arg379Gln) rs150429851 0.00004
NM_080680.3(COL11A2):c.12C>T (p.Cys4=) rs914781832 0.00004
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.1818G>A (p.Ser606=) rs759121761 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln) rs374898022 0.00004
NM_080680.3(COL11A2):c.2069C>T (p.Pro690Leu) rs144992893 0.00004
NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln) rs761524468 0.00004
NM_080680.3(COL11A2):c.2708C>T (p.Pro903Leu) rs567206091 0.00004
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=) rs565891154 0.00004
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn) rs772537556 0.00004
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=) rs781462105 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.3679C>T (p.Pro1227Ser) rs142500487 0.00004
NM_080680.3(COL11A2):c.3751C>T (p.Pro1251Ser) rs1235422277 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_080680.3(COL11A2):c.4027G>A (p.Ala1343Thr) rs759017753 0.00004
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu) rs763995767 0.00004
NM_080680.3(COL11A2):c.431T>C (p.Leu144Pro) rs922135487 0.00004
NM_080680.3(COL11A2):c.4399G>T (p.Ala1467Ser) rs779385536 0.00004
NM_080680.3(COL11A2):c.4516A>G (p.Ile1506Val) rs772312309 0.00004
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu) rs201315111 0.00004
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln) rs774845879 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) rs150982987 0.00004
NM_080680.3(COL11A2):c.622C>T (p.Leu208=) rs200272494 0.00004
NM_080680.3(COL11A2):c.-21C>G rs767695417 0.00003
NM_080680.3(COL11A2):c.1119C>T (p.Ala373=) rs753417704 0.00003
NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp) rs144862714 0.00003
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691 0.00003
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu) rs373983482 0.00003
NM_080680.3(COL11A2):c.1557+4A>G rs956209003 0.00003
NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln) rs770888294 0.00003
NM_080680.3(COL11A2):c.2495G>A (p.Gly832Glu) rs750006299 0.00003
NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu) rs764307090 0.00003
NM_080680.3(COL11A2):c.2736G>A (p.Val912=) rs1022027047 0.00003
NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu) rs771092817 0.00003
NM_080680.3(COL11A2):c.3064G>A (p.Ala1022Thr) rs1398107304 0.00003
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp) rs773329088 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser) rs761687232 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 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.3985G>A (p.Glu1329Lys) rs774304709 0.00003
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg) rs571981688 0.00003
NM_080680.3(COL11A2):c.4255A>C (p.Ile1419Leu) rs765708674 0.00003
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=) rs528251146 0.00003
NM_080680.3(COL11A2):c.628A>G (p.Ile210Val) rs778295133 0.00003
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met) rs747064765 0.00003
NM_080680.3(COL11A2):c.-82C>G rs539232957 0.00002
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=) rs373168555 0.00002
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn) rs751888761 0.00002
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.2637T>C (p.Pro879=) rs199677738 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.2848C>T (p.Pro950Ser) rs768902062 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.3540C>T (p.Gly1180=) rs759890035 0.00002
NM_080680.3(COL11A2):c.3547G>A (p.Gly1183Arg) rs1169845250 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_080680.3(COL11A2):c.3774C>T (p.Gly1258=) rs558644599 0.00002
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln) rs372143434 0.00002
NM_080680.3(COL11A2):c.4010C>T (p.Ala1337Val) rs756855492 0.00002
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu) rs758796613 0.00002
NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu) rs764154647 0.00002
NM_080680.3(COL11A2):c.4600C>T (p.Pro1534Ser) rs774980862 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp) rs762351406 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.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_080680.3(COL11A2):c.799-7A>G rs771451654 0.00002
NM_080680.3(COL11A2):c.844G>A (p.Val282Met) rs146432857 0.00002
NM_080680.3(COL11A2):c.914C>T (p.Ser305Leu) rs1049821607 0.00002
NM_080680.3(COL11A2):c.*439C>A rs886061313 0.00001
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.1097C>T (p.Ala366Val) rs534335166 0.00001
NM_080680.3(COL11A2):c.1127A>G (p.His376Arg) rs138186336 0.00001
NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp) rs1554221958 0.00001
NM_080680.3(COL11A2):c.1284+6G>A rs763765791 0.00001
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln) rs762813373 0.00001
NM_080680.3(COL11A2):c.133G>A (p.Asp45Asn) rs776686881 0.00001
NM_080680.3(COL11A2):c.1399G>A (p.Val467Met) rs755731113 0.00001
NM_080680.3(COL11A2):c.1403C>T (p.Ala468Val) rs1475898236 0.00001
NM_080680.3(COL11A2):c.143G>A (p.Arg48Gln) rs760502556 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.1694G>A (p.Gly565Glu) rs781378391 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.1880G>A (p.Arg627Gln) rs528989984 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.2215-11A>G rs557236389 0.00001
NM_080680.3(COL11A2):c.232+3A>G rs777699755 0.00001
NM_080680.3(COL11A2):c.2346C>A (p.Asp782Glu) rs769588312 0.00001
NM_080680.3(COL11A2):c.2356C>T (p.Pro786Ser) rs997884133 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.2416C>T (p.Arg806Cys) rs376355040 0.00001
NM_080680.3(COL11A2):c.2425C>G (p.Pro809Ala) rs1483323590 0.00001
NM_080680.3(COL11A2):c.2431-4C>T rs1457746213 0.00001
NM_080680.3(COL11A2):c.2510G>A (p.Arg837Gln) rs773908748 0.00001
NM_080680.3(COL11A2):c.2518C>T (p.Arg840Trp) rs769151199 0.00001
NM_080680.3(COL11A2):c.2519G>A (p.Arg840Gln) rs538425732 0.00001
NM_080680.3(COL11A2):c.2530-4G>A rs891664323 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.2693G>A (p.Gly898Glu) rs727502941 0.00001
NM_080680.3(COL11A2):c.2809G>A (p.Gly937Ser) rs993223370 0.00001
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser) rs764935691 0.00001
NM_080680.3(COL11A2):c.2821G>A (p.Glu941Lys) rs753595762 0.00001
NM_080680.3(COL11A2):c.2989-3T>C rs775993606 0.00001
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_080680.3(COL11A2):c.3110C>T (p.Pro1037Leu) rs1048400213 0.00001
NM_080680.3(COL11A2):c.3118C>A (p.Pro1040Thr) rs759919085 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_080680.3(COL11A2):c.3326C>A (p.Pro1109His) rs751465004 0.00001
NM_080680.3(COL11A2):c.3335C>A (p.Pro1112His) rs759086485 0.00001
NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln) rs529015303 0.00001
NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser) rs754703121 0.00001
NM_080680.3(COL11A2):c.3480G>T (p.Leu1160Phe) rs927537693 0.00001
NM_080680.3(COL11A2):c.3545C>A (p.Pro1182Gln) rs1411737210 0.00001
NM_080680.3(COL11A2):c.3609T>G (p.Val1203=) rs768558233 0.00001
NM_080680.3(COL11A2):c.3664G>T (p.Gly1222Trp) rs770599645 0.00001
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys) rs780613380 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser) rs1769701069 0.00001
NM_080680.3(COL11A2):c.3799-4T>G rs1170772773 0.00001
NM_080680.3(COL11A2):c.3799-9C>G rs762361602 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.3859G>C (p.Asp1287His) rs1219133025 0.00001
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln) rs727504832 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.3992G>C (p.Arg1331Pro) rs146082418 0.00001
NM_080680.3(COL11A2):c.4001G>A (p.Gly1334Glu) rs200078912 0.00001
NM_080680.3(COL11A2):c.4174G>C (p.Val1392Leu) rs1769285590 0.00001
NM_080680.3(COL11A2):c.4208A>T (p.Asp1403Val) rs1353761128 0.00001
NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu) rs780158388 0.00001
NM_080680.3(COL11A2):c.4231-4C>G rs564087840 0.00001
NM_080680.3(COL11A2):c.4262C>T (p.Pro1421Leu) rs1266557699 0.00001
NM_080680.3(COL11A2):c.4307C>T (p.Pro1436Leu) rs1338682682 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.4482G>A (p.Pro1494=) rs142586242 0.00001
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.4498G>T (p.Val1500Leu) rs1769045378 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.452G>A (p.Arg151His) rs775576672 0.00001
NM_080680.3(COL11A2):c.453T>C (p.Arg151=) rs147115504 0.00001
NM_080680.3(COL11A2):c.4642G>A (p.Asp1548Asn) rs370282196 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.4951G>A (p.Val1651Ile) rs766589324 0.00001
NM_080680.3(COL11A2):c.4970G>T (p.Gly1657Val) rs1300439797 0.00001
NM_080680.3(COL11A2):c.4984G>A (p.Gly1662Ser) rs1377653646 0.00001
NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp) rs534700620 0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250 0.00001
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) rs142893093 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 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.689G>A (p.Gly230Glu) rs143571317 0.00001
NM_080680.3(COL11A2):c.74G>A (p.Gly25Asp) rs1482152365 0.00001
NM_080680.3(COL11A2):c.798+67C>T rs772701006 0.00001
NM_080680.3(COL11A2):c.799-3C>T rs1772340099 0.00001
NM_080680.3(COL11A2):c.897G>T (p.Glu299Asp) rs375861604 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 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
GRCh37/hg19 6p21.32(chr6:33131455-33139880)x3
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.*248C>A rs886061314
NM_080680.3(COL11A2):c.*393A>G rs1768602218
NM_080680.3(COL11A2):c.*485G>C rs1768585045
NM_080680.3(COL11A2):c.*706G>T rs548143581
NM_080680.3(COL11A2):c.*788A>C rs773303307
NM_080680.3(COL11A2):c.*819C>T rs1453667316
NM_080680.3(COL11A2):c.-79T>C rs1773232423
NM_080680.3(COL11A2):c.-92A>G rs886061319
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.1063C>T (p.Arg355Cys) rs774410925
NM_080680.3(COL11A2):c.106C>G (p.Arg36Gly) rs118097056
NM_080680.3(COL11A2):c.1071G>T (p.Glu357Asp)
NM_080680.3(COL11A2):c.1090C>G (p.Leu364Val) rs770935156
NM_080680.3(COL11A2):c.109G>A (p.Ala37Thr)
NM_080680.3(COL11A2):c.1119+1G>C rs367706373
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.1129_1130dup (p.Pro378fs)
NM_080680.3(COL11A2):c.1132C>A (p.Pro378Thr)
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.116G>A (p.Arg39Lys)
NM_080680.3(COL11A2):c.1177C>T (p.Pro393Ser) rs763252175
NM_080680.3(COL11A2):c.1179+1G>A
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.1180-4A>G rs1554221961
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.1231G>T (p.Gly411Cys) rs1771618390
NM_080680.3(COL11A2):c.1243A>G (p.Ile415Val) rs2150586428
NM_080680.3(COL11A2):c.1244T>G (p.Ile415Ser)
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.1286G>A (p.Gly429Asp)
NM_080680.3(COL11A2):c.1292C>G (p.Pro431Arg) rs1437997364
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.136G>A (p.Gly46Ser) rs886044564
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.1395T>G (p.Pro465=) rs1554221471
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.1427C>T (p.Ala476Val) rs373983482
NM_080680.3(COL11A2):c.143G>T (p.Arg48Leu)
NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val)
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.1471C>T (p.Pro491Ser)
NM_080680.3(COL11A2):c.149C>G (p.Ala50Gly) rs1772830656
NM_080680.3(COL11A2):c.1536G>C (p.Glu512Asp)
NM_080680.3(COL11A2):c.1553C>A (p.Pro518His) rs2150579645
NM_080680.3(COL11A2):c.1557+3G>A
NM_080680.3(COL11A2):c.1557+5C>T rs771087374
NM_080680.3(COL11A2):c.1570C>T (p.Pro524Ser) rs2150579159
NM_080680.3(COL11A2):c.1589C>T (p.Pro530Leu)
NM_080680.3(COL11A2):c.15C>T (p.Ser5=)
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.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)
NM_080680.3(COL11A2):c.163C>T (p.Pro55Ser) rs1772828091
NM_080680.3(COL11A2):c.1665+5C>T
NM_080680.3(COL11A2):c.1678T>G (p.Phe560Val) rs876657764
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.1697T>G (p.Leu566Arg) rs1771274896
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.1773+8T>A rs1771229712
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.1795C>T (p.Pro599Ser)
NM_080680.3(COL11A2):c.1796C>G (p.Pro599Arg)
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>A rs549588854
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.1869C>G (p.Pro623=) rs1771179784
NM_080680.3(COL11A2):c.1872+5G>A rs727504891
NM_080680.3(COL11A2):c.187G>A (p.Ala63Thr) rs2150624994
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>A (p.Pro641Thr)
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.200A>C (p.Gln67Pro)
NM_080680.3(COL11A2):c.2017G>T (p.Gly673Cys)
NM_080680.3(COL11A2):c.201G>T (p.Gln67His)
NM_080680.3(COL11A2):c.2020C>T (p.Pro674Ser)
NM_080680.3(COL11A2):c.2032C>T (p.Pro678Ser)
NM_080680.3(COL11A2):c.2033C>A (p.Pro678Gln)
NM_080680.3(COL11A2):c.2038C>T (p.Leu680Phe)
NM_080680.3(COL11A2):c.2054G>C (p.Gly685Ala) rs757431548
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.2065C>T (p.Pro689Ser) rs766440021
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.2081G>A (p.Gly694Glu) rs2150570093
NM_080680.3(COL11A2):c.2085G>T (p.Lys695Asn) rs368770525
NM_080680.3(COL11A2):c.2090G>T (p.Gly697Val)
NM_080680.3(COL11A2):c.2103C>A (p.Thr701=)
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.2128C>T (p.Pro710Ser) rs1583334125
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.2169+4A>G
NM_080680.3(COL11A2):c.2169+5C>T rs794727446
NM_080680.3(COL11A2):c.2171G>A (p.Gly724Asp)
NM_080680.3(COL11A2):c.2173G>A (p.Val725Met) rs1554219686
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.218G>T (p.Arg73Leu)
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.2220G>A (p.Glu740=) rs202032297
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp) rs202032297
NM_080680.3(COL11A2):c.2221G>C (p.Asp741His)
NM_080680.3(COL11A2):c.222G>A (p.Gln74=) rs1772815896
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.2268+5G>A
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.2295G>T (p.Arg765Ser) rs962608488
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.2333G>C (p.Gly778Ala)
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.2356C>G (p.Pro786Ala)
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.2415A>G (p.Gly805=) rs2150561686
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.2477G>C (p.Gly826Ala) rs767536947
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.2584-10C>T rs886043444
NM_080680.3(COL11A2):c.2584-3C>T
NM_080680.3(COL11A2):c.2590T>A (p.Ser864Thr)
NM_080680.3(COL11A2):c.2593G>C (p.Gly865Arg)
NM_080680.3(COL11A2):c.2596G>C (p.Gly866Arg)
NM_080680.3(COL11A2):c.2597G>A (p.Gly866Asp)
NM_080680.3(COL11A2):c.2608C>A (p.His870Asn)
NM_080680.3(COL11A2):c.2611G>T (p.Gly871Trp)
NM_080680.3(COL11A2):c.2614C>T (p.Pro872Ser) rs1280912715
NM_080680.3(COL11A2):c.2623G>A (p.Glu875Lys)
NM_080680.3(COL11A2):c.2624A>T (p.Glu875Val) rs2150557458
NM_080680.3(COL11A2):c.2627G>T (p.Arg876Met) rs745859259
NM_080680.3(COL11A2):c.2628+3delinsAA rs2150557381
NM_080680.3(COL11A2):c.2635C>T (p.Pro879Ser)
NM_080680.3(COL11A2):c.2639G>A (p.Gly880Glu)
NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)
NM_080680.3(COL11A2):c.2648G>C (p.Gly883Ala)
NM_080680.3(COL11A2):c.2666G>A (p.Gly889Glu) rs1770440344
NM_080680.3(COL11A2):c.2681C>G (p.Pro894Arg)
NM_080680.3(COL11A2):c.2682+5G>A rs1175212667
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.2709G>A (p.Pro903=) rs779878105
NM_080680.3(COL11A2):c.2738G>A (p.Gly913Asp) rs1412836601
NM_080680.3(COL11A2):c.2746G>C (p.Gly916Arg)
NM_080680.3(COL11A2):c.2755G>A (p.Gly919Ser)
NM_080680.3(COL11A2):c.2758C>A (p.Pro920Thr) rs727502940
NM_080680.3(COL11A2):c.2761C>T (p.Pro921Ser) rs1416503874
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.2813C>T (p.Pro938Leu) rs2150552323
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.2843C>A (p.Pro948Gln)
NM_080680.3(COL11A2):c.2843C>T (p.Pro948Leu) rs779187034
NM_080680.3(COL11A2):c.2851C>T (p.Pro951Ser) rs971363566
NM_080680.3(COL11A2):c.2852C>T (p.Pro951Leu) rs1770261401
NM_080680.3(COL11A2):c.2869C>A (p.Pro957Thr)
NM_080680.3(COL11A2):c.2870C>T (p.Pro957Leu) rs1554217670
NM_080680.3(COL11A2):c.2881G>A (p.Gly961Arg)
NM_080680.3(COL11A2):c.2885A>C (p.Lys962Thr)
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.2928G>C (p.Gly976=) rs147004824
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.2983A>G (p.Thr995Ala) rs1554217436
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.3010A>G (p.Asn1004Asp)
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.3031C>G (p.Pro1011Ala) rs997533180
NM_080680.3(COL11A2):c.3042+11G>C
NM_080680.3(COL11A2):c.3042+11G>T
NM_080680.3(COL11A2):c.3042+4A>G rs2150549308
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.3098G>A (p.Gly1033Glu)
NM_080680.3(COL11A2):c.3118C>G (p.Pro1040Ala) rs759919085
NM_080680.3(COL11A2):c.3118C>T (p.Pro1040Ser)
NM_080680.3(COL11A2):c.3125G>A (p.Gly1042Glu)
NM_080680.3(COL11A2):c.3134G>A (p.Gly1045Glu) rs1337293103
NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser) rs1057524643
NM_080680.3(COL11A2):c.3150+7G>T rs1327272043
NM_080680.3(COL11A2):c.3151-7C>A rs2150546958
NM_080680.3(COL11A2):c.3154G>A (p.Glu1052Lys) rs2150546921
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.3197_3202dup (p.Gly1066_Pro1067dup) rs1554216723
NM_080680.3(COL11A2):c.3199_3204del (p.Pro1067_Val1068del) rs2150546665
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.32T>C (p.Leu11Pro) rs2150637209
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.3343C>A (p.Pro1115Thr) rs372806452
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser) rs372806452
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.3413G>A (p.Gly1138Glu)
NM_080680.3(COL11A2):c.341_352del (p.Leu114_Gly117del)
NM_080680.3(COL11A2):c.3431G>T (p.Gly1144Val) rs2150543076
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.3485G>A (p.Gly1162Asp)
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.3509C>G (p.Thr1170Arg)
NM_080680.3(COL11A2):c.3518T>C (p.Val1173Ala)
NM_080680.3(COL11A2):c.3528+5G>T
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.3554G>A (p.Arg1185Gln) rs771004504
NM_080680.3(COL11A2):c.3554G>C (p.Arg1185Pro) rs771004504
NM_080680.3(COL11A2):c.3556G>A (p.Gly1186Ser) rs876657765
NM_080680.3(COL11A2):c.3562G>A (p.Ala1188Thr)
NM_080680.3(COL11A2):c.3563C>A (p.Ala1188Asp) rs2150539389
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.3582+4A>G
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.361C>T (p.Arg121Cys) rs553025178
NM_080680.3(COL11A2):c.3622C>G (p.Pro1208Ala) rs374515005
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser) rs374515005
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.3676G>A (p.Glu1226Lys) rs1259912377
NM_080680.3(COL11A2):c.3698G>A (p.Arg1233His)
NM_080680.3(COL11A2):c.3703G>A (p.Glu1235Lys)
NM_080680.3(COL11A2):c.3719G>C (p.Gly1240Ala)
NM_080680.3(COL11A2):c.3739G>C (p.Glu1247Gln) rs750311375
NM_080680.3(COL11A2):c.3743C>T (p.Pro1248Leu)
NM_080680.3(COL11A2):c.3748C>T (p.Pro1250Ser)
NM_080680.3(COL11A2):c.3749C>T (p.Pro1250Leu)
NM_080680.3(COL11A2):c.3752C>T (p.Pro1251Leu)
NM_080680.3(COL11A2):c.3764G>A (p.Gly1255Asp) rs2150534777
NM_080680.3(COL11A2):c.3776A>C (p.Asp1259Ala)
NM_080680.3(COL11A2):c.3777T>A (p.Asp1259Glu)
NM_080680.3(COL11A2):c.3778G>C (p.Asp1260His) rs1769705019
NM_080680.3(COL11A2):c.3798+12G>T
NM_080680.3(COL11A2):c.3823C>G (p.Pro1275Ala)
NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)
NM_080680.3(COL11A2):c.3829C>G (p.Pro1277Ala)
NM_080680.3(COL11A2):c.3830C>A (p.Pro1277His) rs777156156
NM_080680.3(COL11A2):c.3830C>G (p.Pro1277Arg) rs777156156
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.3898G>A (p.Gly1300Arg) rs2150531422
NM_080680.3(COL11A2):c.389G>A (p.Arg130Gln)
NM_080680.3(COL11A2):c.3906+7G>A
NM_080680.3(COL11A2):c.3907-5C>T rs1194309539
NM_080680.3(COL11A2):c.3911C>G (p.Ser1304Cys) rs1769534939
NM_080680.3(COL11A2):c.3919C>A (p.Pro1307Thr) rs2150530638
NM_080680.3(COL11A2):c.392C>T (p.Pro131Leu)
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.3961-7C>A rs1361986900
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.3992G>A (p.Arg1331Gln) rs146082418
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.4038C>G (p.Ala1346=) rs748527563
NM_080680.3(COL11A2):c.403T>C (p.Ser135Pro)
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313
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>A (p.Gly1372Asp) rs2150525372
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.4166C>T (p.Pro1389Leu)
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.4280A>G (p.Glu1427Gly)
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.4344C>G (p.Ile1448Met) rs554269032
NM_080680.3(COL11A2):c.4348G>A (p.Gly1450Arg)
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.437A>G (p.Asp146Gly)
NM_080680.3(COL11A2):c.4387C>T (p.Leu1463Phe)
NM_080680.3(COL11A2):c.4391C>A (p.Pro1464His) rs944163816
NM_080680.3(COL11A2):c.4391C>G (p.Pro1464Arg) rs944163816
NM_080680.3(COL11A2):c.4391C>T (p.Pro1464Leu)
NM_080680.3(COL11A2):c.4395A>G (p.Gly1465=)
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.4452G>T (p.Glu1484Asp)
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.460G>A (p.Val154Met)
NM_080680.3(COL11A2):c.4610C>T (p.Pro1537Leu) rs1554212071
NM_080680.3(COL11A2):c.4612G>C (p.Gly1538Arg)
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.4735C>A (p.Pro1579Thr) rs1768986350
NM_080680.3(COL11A2):c.4741C>T (p.Leu1581Phe)
NM_080680.3(COL11A2):c.4753G>C (p.Glu1585Gln)
NM_080680.3(COL11A2):c.4766A>G (p.Asp1589Gly)
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=) rs886044178
NM_080680.3(COL11A2):c.4777G>A (p.Gly1593Ser) rs1369015834
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp) rs778962979
NM_080680.3(COL11A2):c.4787G>A (p.Arg1596Gln)
NM_080680.3(COL11A2):c.4816A>G (p.Thr1606Ala)
NM_080680.3(COL11A2):c.4826G>A (p.Gly1609Asp) rs779957849
NM_080680.3(COL11A2):c.4831A>T (p.Thr1611Ser) rs2150513407
NM_080680.3(COL11A2):c.4832C>A (p.Thr1611Asn)
NM_080680.3(COL11A2):c.4837G>T (p.Val1613Leu)
NM_080680.3(COL11A2):c.4843C>T (p.Pro1615Ser)
NM_080680.3(COL11A2):c.4847G>A (p.Arg1616Lys)
NM_080680.3(COL11A2):c.4847G>T (p.Arg1616Met) rs1366292773
NM_080680.3(COL11A2):c.484A>T (p.Thr162Ser)
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.4933G>A (p.Val1645Ile) rs556677734
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.5014G>A (p.Asp1672Asn) rs2150510495
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.5031G>T (p.Glu1677Asp) rs1279705980
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.5102G>A (p.Arg1701Gln)
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.5150A>T (p.Asp1717Val) rs1554210895
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.5195T>C (p.Val1732Ala)
NM_080680.3(COL11A2):c.5210A>G (p.Ter1737Trp)
NM_080680.3(COL11A2):c.533G>A (p.Ser178Asn)
NM_080680.3(COL11A2):c.539G>C (p.Arg180Pro)
NM_080680.3(COL11A2):c.544G>T (p.Val182Leu) rs375937729
NM_080680.3(COL11A2):c.559G>A (p.Gly187Arg) rs1350969247
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.607G>A (p.Gly203Ser) rs2150613541
NM_080680.3(COL11A2):c.625G>A (p.Ala209Thr)
NM_080680.3(COL11A2):c.630T>G (p.Ile210Met)
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.679G>A (p.Glu227Lys)
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.731C>T (p.Ala244Val) rs2150612823
NM_080680.3(COL11A2):c.74G>C (p.Gly25Ala)
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.787C>T (p.Pro263Ser)
NM_080680.3(COL11A2):c.798+56C>G rs2150612103
NM_080680.3(COL11A2):c.79G>A (p.Ala27Thr) rs1773197010
NM_080680.3(COL11A2):c.79G>C (p.Ala27Pro) rs1773197010
NM_080680.3(COL11A2):c.808_813delinsATTGGGCTCG (p.Ser270fs) rs1554224412
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.830C>A (p.Pro277His) rs886061318
NM_080680.3(COL11A2):c.847A>G (p.Met283Val)
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.883A>C (p.Thr295Pro)
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.920T>A (p.Leu307His) rs1772205515
NM_080680.3(COL11A2):c.939+8T>C rs1554223902
NM_080680.3(COL11A2):c.939G>C (p.Glu313Asp) rs886061317
NM_080680.3(COL11A2):c.94G>A (p.Val32Met)
NM_080680.3(COL11A2):c.965C>T (p.Pro322Leu)
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080680.3(COL11A2):c.96G>A (p.Val32=)
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491
NM_080680.3(COL11A2):c.975C>T (p.Asp325=)
NM_080680.3(COL11A2):c.977G>A (p.Arg326Lys)
NM_080680.3(COL11A2):c.997G>A (p.Gly333Arg) rs2150601430

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