ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 277
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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.4652G>A (p.Arg1551Gln) rs145343609 0.00077
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.706C>T (p.Pro236Ser) rs35116188 0.00044
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.434C>G (p.Ala145Gly) rs138305560 0.00026
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met) rs570708095 0.00026
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
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.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 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.3328C>T (p.Pro1110Ser) rs141164483 0.00012
NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu) rs150784358 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.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.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_080680.3(COL11A2):c.5071-7C>G rs200548977 0.00010
NM_080680.3(COL11A2):c.4000G>C (p.Gly1334Arg) rs200574827 0.00009
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys) rs752552097 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.2327G>A (p.Arg776His) rs748159740 0.00007
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.4057G>A (p.Val1353Met) rs752706766 0.00006
NM_080680.3(COL11A2):c.4541G>A (p.Arg1514His) rs756194499 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.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.1136G>A (p.Arg379Gln) rs150429851 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.2069C>T (p.Pro690Leu) rs144992893 0.00004
NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln) rs761524468 0.00004
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn) rs772537556 0.00004
NM_080680.3(COL11A2):c.3311A>C (p.His1104Pro) rs1175032554 0.00004
NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser) rs142500487 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.4399G>T (p.Ala1467Ser) rs779385536 0.00004
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu) rs201315111 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.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.2495G>A (p.Gly832Glu) rs750006299 0.00003
NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu) rs764307090 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.3352C>A (p.Gln1118Lys) rs369849667 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.854C>T (p.Thr285Met) rs747064765 0.00003
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.2736+6T>A rs781684563 0.00002
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser) rs768902062 0.00002
NM_080680.3(COL11A2):c.3529-3C>T rs753183777 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 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.580C>T (p.Arg194Cys) rs780110905 0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_080680.3(COL11A2):c.914C>T (p.Ser305Leu) rs1049821607 0.00002
NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val) rs534335166 0.00001
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln) rs762813373 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.182G>A (p.Arg61Gln) rs761464756 0.00001
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln) rs528989984 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.2179G>A (p.Gly727Arg) rs768569721 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.239T>C (p.Phe80Ser) rs1459651793 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.2537G>A (p.Arg846Gln) rs1184127849 0.00001
NM_080680.3(COL11A2):c.2809G>A (p.Gly937Ser) rs993223370 0.00001
NM_080680.3(COL11A2):c.2821G>A (p.Glu941Lys) rs753595762 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.3697C>T (p.Arg1233Cys) rs780613380 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 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.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.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.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.4498G>T (p.Val1500Leu) rs1769045378 0.00001
NM_080680.3(COL11A2):c.452G>A (p.Arg151His) rs775576672 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.4924C>G (p.Leu1642Val) rs770715075 0.00001
NM_080680.3(COL11A2):c.4970G>T (p.Gly1657Val) rs1300439797 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.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.798+67C>T rs772701006 0.00001
NM_080680.3(COL11A2):c.897G>T (p.Glu299Asp) rs375861604 0.00001
NM_080680.3(COL11A2):c.940-4G>T rs1397179790 0.00001
NM_080680.3(COL11A2):c.1063C>T (p.Arg355Cys) rs774410925
NM_080680.3(COL11A2):c.1090C>G (p.Leu364Val) rs770935156
NM_080680.3(COL11A2):c.1132C>A (p.Pro378Thr)
NM_080680.3(COL11A2):c.1161G>T (p.Glu387Asp) rs192219284
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.1189G>C (p.Val397Leu) rs148250300
NM_080680.3(COL11A2):c.1286G>A (p.Gly429Asp)
NM_080680.3(COL11A2):c.1292C>G (p.Pro431Arg) rs1437997364
NM_080680.3(COL11A2):c.1370G>A (p.Gly457Asp) rs1554221493
NM_080680.3(COL11A2):c.1536G>C (p.Glu512Asp)
NM_080680.3(COL11A2):c.1553C>A (p.Pro518His) rs2150579645
NM_080680.3(COL11A2):c.15C>T (p.Ser5=)
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)
NM_080680.3(COL11A2):c.1796C>G (p.Pro599Arg)
NM_080680.3(COL11A2):c.1817C>G (p.Ser606Trp) rs147328015
NM_080680.3(COL11A2):c.1872+5G>A rs727504891
NM_080680.3(COL11A2):c.187G>A (p.Ala63Thr) rs2150624994
NM_080680.3(COL11A2):c.1921C>T (p.Pro641Ser)
NM_080680.3(COL11A2):c.200A>C (p.Gln67Pro)
NM_080680.3(COL11A2):c.2020C>T (p.Pro674Ser)
NM_080680.3(COL11A2):c.2033C>A (p.Pro678Gln)
NM_080680.3(COL11A2):c.2056T>C (p.Ser686Pro) rs2150571106
NM_080680.3(COL11A2):c.2081G>A (p.Gly694Glu) rs2150570093
NM_080680.3(COL11A2):c.2103C>A (p.Thr701=)
NM_080680.3(COL11A2):c.2169+4A>G
NM_080680.3(COL11A2):c.2173G>A (p.Val725Met) rs1554219686
NM_080680.3(COL11A2):c.218G>T (p.Arg73Leu)
NM_080680.3(COL11A2):c.2206G>C (p.Gly736Arg) rs1284405190
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp) rs202032297
NM_080680.3(COL11A2):c.2252G>A (p.Gly751Asp) rs2150567279
NM_080680.3(COL11A2):c.2268+5G>A
NM_080680.3(COL11A2):c.2333G>C (p.Gly778Ala)
NM_080680.3(COL11A2):c.2356C>G (p.Pro786Ala)
NM_080680.3(COL11A2):c.2415A>G (p.Gly805=) rs2150561686
NM_080680.3(COL11A2):c.2426C>T (p.Pro809Leu)
NM_080680.3(COL11A2):c.2482C>T (p.Arg828Trp)
NM_080680.3(COL11A2):c.2583+6T>C
NM_080680.3(COL11A2):c.2614C>T (p.Pro872Ser) rs1280912715
NM_080680.3(COL11A2):c.2624A>T (p.Glu875Val) rs2150557458
NM_080680.3(COL11A2):c.2628+3delinsAA rs2150557381
NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)
NM_080680.3(COL11A2):c.2738G>A (p.Gly913Asp) rs1412836601
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.2885A>C (p.Lys962Thr)
NM_080680.3(COL11A2):c.3010A>G (p.Asn1004Asp)
NM_080680.3(COL11A2):c.3042+4A>G rs2150549308
NM_080680.3(COL11A2):c.3056A>G (p.Glu1019Gly) rs2150548250
NM_080680.3(COL11A2):c.3098G>A (p.Gly1033Glu)
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.3154G>A (p.Glu1052Lys) rs2150546921
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.32T>C (p.Leu11Pro) rs2150637209
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.3431G>T (p.Gly1144Val) rs2150543076
NM_080680.3(COL11A2):c.353G>A (p.Arg118Gln) rs41268014
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.3563C>A (p.Ala1188Asp) rs2150539389
NM_080680.3(COL11A2):c.3582+4A>G
NM_080680.3(COL11A2):c.3604G>A (p.Gly1202Ser)
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.3698G>A (p.Arg1233His)
NM_080680.3(COL11A2):c.3749C>T (p.Pro1250Leu)
NM_080680.3(COL11A2):c.3764G>A (p.Gly1255Asp) rs2150534777
NM_080680.3(COL11A2):c.3823C>G (p.Pro1275Ala)
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.3839A>T (p.Glu1280Val)
NM_080680.3(COL11A2):c.3898G>A (p.Gly1300Arg) rs2150531422
NM_080680.3(COL11A2):c.3911C>G (p.Ser1304Cys) rs1769534939
NM_080680.3(COL11A2):c.3961-7C>A rs1361986900
NM_080680.3(COL11A2):c.3992G>A (p.Arg1331Gln) rs146082418
NM_080680.3(COL11A2):c.4038C>G (p.Ala1346=) rs748527563
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313
NM_080680.3(COL11A2):c.4066G>A (p.Ala1356Thr) rs764870047
NM_080680.3(COL11A2):c.4115G>A (p.Gly1372Asp) rs2150525372
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.4344C>G (p.Ile1448Met) rs554269032
NM_080680.3(COL11A2):c.4348G>A (p.Gly1450Arg)
NM_080680.3(COL11A2):c.4357G>A (p.Gly1453Ser) rs771888326
NM_080680.3(COL11A2):c.4369C>T (p.Pro1457Ser) rs1562310536
NM_080680.3(COL11A2):c.437A>G (p.Asp146Gly)
NM_080680.3(COL11A2):c.4391C>T (p.Pro1464Leu)
NM_080680.3(COL11A2):c.4395A>G (p.Gly1465=)
NM_080680.3(COL11A2):c.4452G>T (p.Glu1484Asp)
NM_080680.3(COL11A2):c.4540C>T (p.Arg1514Cys) rs780071501
NM_080680.3(COL11A2):c.4591G>C (p.Gly1531Arg) rs566171449
NM_080680.3(COL11A2):c.4599_4600delinsGT (p.Pro1534Ser)
NM_080680.3(COL11A2):c.4612G>C (p.Gly1538Arg)
NM_080680.3(COL11A2):c.4735C>A (p.Pro1579Thr) rs1768986350
NM_080680.3(COL11A2):c.4933G>A (p.Val1645Ile) rs556677734
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.5031G>T (p.Glu1677Asp) rs1279705980
NM_080680.3(COL11A2):c.5152C>G (p.Leu1718Val) rs1413052565
NM_080680.3(COL11A2):c.533G>A (p.Ser178Asn)
NM_080680.3(COL11A2):c.559G>A (p.Gly187Arg) rs1350969247
NM_080680.3(COL11A2):c.607G>A (p.Gly203Ser) rs2150613541
NM_080680.3(COL11A2):c.630T>G (p.Ile210Met)
NM_080680.3(COL11A2):c.647C>A (p.Ala216Glu) rs1772475565
NM_080680.3(COL11A2):c.731C>T (p.Ala244Val) rs2150612823
NM_080680.3(COL11A2):c.74G>C (p.Gly25Ala)
NM_080680.3(COL11A2):c.787C>T (p.Pro263Ser)
NM_080680.3(COL11A2):c.798+56C>G rs2150612103
NM_080680.3(COL11A2):c.79G>C (p.Ala27Pro) rs1773197010
NM_080680.3(COL11A2):c.82+6_82+7del rs1241681013
NM_080680.3(COL11A2):c.847A>G (p.Met283Val)
NM_080680.3(COL11A2):c.86C>T (p.Ala29Val) rs2150625714
NM_080680.3(COL11A2):c.883A>C (p.Thr295Pro)
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491

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