ClinVar Miner

List of variants in gene COL11A2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 569
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_080680.3(COL11A2):c.3960+151C>T rs986521 0.81243
NM_080680.3(COL11A2):c.4015-82T>C rs2855449 0.79000
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_080680.3(COL11A2):c.1872+199T>C rs2855423 0.78474
NM_080680.3(COL11A2):c.2988+57A>C rs973233 0.77898
NM_080680.3(COL11A2):c.3150+15A>C rs2855436 0.77853
NM_080680.3(COL11A2):c.3691-136G>A rs2855442 0.77803
NM_080680.3(COL11A2):c.2484+22C>G rs2744512 0.77793
NM_080680.3(COL11A2):c.2116-110C>T rs2855425 0.77762
NM_080680.3(COL11A2):c.2737-93T>C rs2855432 0.77323
NM_080680.3(COL11A2):c.2430+51G>C rs2855428 0.77298
NM_080680.3(COL11A2):c.3474+89A>G rs2855440 0.75007
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_080680.3(COL11A2):c.3367-53del rs9280358 0.73546
NM_080680.3(COL11A2):c.3852+94C>T rs2855446 0.72286
NM_080680.3(COL11A2):c.4864-88C>T rs2744514 0.67153
NM_080680.3(COL11A2):c.5071-139T>C rs2257126 0.66945
NM_080680.3(COL11A2):c.4393-119A>G rs3116955 0.66864
NM_080680.3(COL11A2):c.4751-190G>A rs2855455 0.66821
NM_080680.3(COL11A2):c.4339-49G>T rs2855453 0.66736
NM_080680.3(COL11A2):c.4015-81G>A rs2855450 0.66232
NM_080680.3(COL11A2):c.3853-39G>A rs2855448 0.64558
NM_080680.3(COL11A2):c.3637-66G>A rs2855441 0.59077
NM_080680.3(COL11A2):c.2629-57G>A rs970902 0.58137
NM_080680.3(COL11A2):c.2377-182C>T rs3762013 0.58076
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910 0.50179
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908 0.46292
NM_080680.3(COL11A2):c.1917+70G>T rs2076311 0.31477
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_080680.3(COL11A2):c.2268+37T>C rs2071025 0.28622
NM_001424111.1(COL11A2):c.-765+377C>A rs9277935 0.23780
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911 0.22509
NM_080680.3(COL11A2):c.5070+151G>A rs9405002 0.21681
NM_080680.3(COL11A2):c.2376+215C>T rs2855426 0.19591
NC_000006.12:g.33162653G>A rs2235498 0.19140
NM_080680.3(COL11A2):c.3366+52T>A rs2855438 0.15227
NM_080680.3(COL11A2):c.1119+250A>T rs116626305 0.14838
NM_080680.3(COL11A2):c.877-34C>T rs116165521 0.14216
NM_080680.3(COL11A2):c.1119+134A>G rs116015488 0.14176
NM_080680.3(COL11A2):c.940-247C>A rs115052745 0.14176
NM_080680.3(COL11A2):c.940-286T>C rs114128868 0.14170
NM_080680.3(COL11A2):c.2115+32G>T rs41317098 0.11537
NM_080680.3(COL11A2):c.3582+88A>G rs41317094 0.11515
NM_080680.3(COL11A2):c.799-278T>C rs3129200 0.11294
NM_080680.3(COL11A2):c.4864-115A>G rs28711386 0.10735
NM_080680.3(COL11A2):c.798+355C>T rs12526336 0.10708
NM_080680.3(COL11A2):c.4864-64C>T rs73408005 0.10695
NM_080680.3(COL11A2):c.1119+42G>T rs41317102 0.10656
NM_080680.3(COL11A2):c.877-135T>G rs115879584 0.10571
NM_080680.3(COL11A2):c.1179+10G>A rs2744507 0.09775
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430 0.09772
NM_080680.3(COL11A2):c.607-61C>T rs2855459 0.09764
NM_080680.3(COL11A2):c.1818+32G>C rs2855422 0.09655
NM_080680.3(COL11A2):c.3960+220C>T rs115641163 0.09440
NM_080680.3(COL11A2):c.3690+38G>A rs78244274 0.08975
NM_080680.3(COL11A2):c.3582+82C>T rs9368758 0.08969
NM_080680.3(COL11A2):c.3637-28G>A rs9277929 0.08449
NM_080680.3(COL11A2):c.4230+47C>T rs73408007 0.07485
NM_080680.3(COL11A2):c.4750+286C>T rs79131379 0.05857
NM_080680.3(COL11A2):c.3043-38T>G rs73741526 0.05248
NM_080680.3(COL11A2):c.3529-44A>G rs16868900 0.04873
NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr) rs2229784 0.04406
NM_080680.3(COL11A2):c.3960+235G>A rs73741509 0.04202
NM_080680.3(COL11A2):c.3258+60C>G rs73741524 0.04034
NM_080680.3(COL11A2):c.82+272A>G rs9469378 0.03705
NM_080680.3(COL11A2):c.939+26C>T rs6910886 0.03527
NM_080680.3(COL11A2):c.1360-145C>T rs16868943 0.02957
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02950
NM_080680.3(COL11A2):c.-174C>A rs138299820 0.02580
NM_080680.3(COL11A2):c.3798+99G>A rs115196704 0.02565
NM_080680.3(COL11A2):c.4751-194A>T rs114840990 0.02039
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_080680.3(COL11A2):c.83-55A>T rs56297647 0.01649
NM_080680.3(COL11A2):c.2737-86A>G rs73741531 0.01055
NM_080680.3(COL11A2):c.876+128T>C rs139969885 0.01010
NM_080680.3(COL11A2):c.1285-58A>G rs115849873 0.00926
NM_080680.3(COL11A2):c.3636+74G>C rs45596935 0.00915
NM_080680.3(COL11A2):c.607-103C>G rs2855458 0.00840
NM_080680.3(COL11A2):c.4015-86C>T rs146288830 0.00832
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_080680.3(COL11A2):c.1818+42G>A rs73741534 0.00665
NM_080680.3(COL11A2):c.876+31C>T rs113453266 0.00655
NM_080680.3(COL11A2):c.5070+30T>G rs368369144 0.00573
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_080680.3(COL11A2):c.3798+147C>T rs186104309 0.00553
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00515
NM_080680.3(COL11A2):c.1665+78A>C rs116702160 0.00436
NM_080680.3(COL11A2):c.4393-28C>T rs144062635 0.00399
NM_080680.3(COL11A2):c.1222-45C>T rs116879480 0.00350
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_080680.3(COL11A2):c.1665+46C>T rs117200425 0.00233
NM_080680.3(COL11A2):c.*4C>T rs186720023 0.00230
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268 0.00212
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_080680.3(COL11A2):c.1971+66G>C rs534413262 0.00188
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_080680.3(COL11A2):c.1972-16C>T rs117435723 0.00181
NM_080680.3(COL11A2):c.1917+21C>T rs117126784 0.00179
NM_080680.3(COL11A2):c.1774-9C>T rs148243956 0.00178
NM_080680.3(COL11A2):c.233-47C>T rs55726242 0.00175
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
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.2336C>T (p.Pro779Leu) rs150877886 0.00153
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.2116-34G>A rs74591914 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_080680.3(COL11A2):c.4015-48C>T rs370994730 0.00097
NM_080680.3(COL11A2):c.2989-37C>T rs367736116 0.00094
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=) rs139647701 0.00083
NM_080680.3(COL11A2):c.4015-8T>C rs377001136 0.00082
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_080680.3(COL11A2):c.2266A>C (p.Arg756=) rs138083769 0.00071
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_080680.3(COL11A2):c.4863+23C>T rs201638200 0.00059
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431 0.00053
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_080680.3(COL11A2):c.1504-21A>T rs199869383 0.00051
NM_080680.3(COL11A2):c.1719+51G>A rs370055023 0.00051
NM_080680.3(COL11A2):c.1971+45T>C rs377409299 0.00051
NM_080680.3(COL11A2):c.2170-39C>T rs375287016 0.00051
NM_080680.3(COL11A2):c.2583+31C>T rs369777341 0.00051
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_080680.3(COL11A2):c.2431-11G>A rs368695514 0.00048
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.2064A>G (p.Gly688=) rs753871660 0.00038
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333 0.00036
NM_080680.3(COL11A2):c.2187G>C (p.Arg729=) rs551411073 0.00032
NM_080680.3(COL11A2):c.882C>T (p.Pro294=) rs566296770 0.00032
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_080680.3(COL11A2):c.1875C>T (p.Gly625=) rs141815296 0.00029
NM_080680.3(COL11A2):c.1998C>T (p.Ile666=) rs373989427 0.00029
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.2757C>T (p.Gly919=) rs34478777 0.00026
NM_080680.3(COL11A2):c.434C>G (p.Ala145Gly) rs138305560 0.00026
NM_080680.3(COL11A2):c.5071-5T>G rs368309085 0.00026
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met) rs570708095 0.00026
NM_080680.3(COL11A2):c.1504-9C>T rs367757994 0.00024
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.4950C>T (p.Asp1650=) rs372110441 0.00024
NM_080680.3(COL11A2):c.1819-18_1819-9del rs767645840 0.00022
NM_080680.3(COL11A2):c.1560C>A (p.Gly520=) rs370680294 0.00021
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.4230+13C>G rs200051654 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.2085G>A (p.Lys695=) rs368770525 0.00016
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.4860G>A (p.Thr1620=) rs200099239 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.2928G>A (p.Gly976=) rs147004824 0.00013
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.813C>T (p.Leu271=) rs143505163 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.4080G>A (p.Gly1360=) rs537455619 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.798+38C>A rs200989046 0.00010
NM_080680.3(COL11A2):c.1666-9T>G rs181999673 0.00009
NM_080680.3(COL11A2):c.2628+14G>A rs559123089 0.00009
NM_080680.3(COL11A2):c.3021G>A (p.Pro1007=) rs370652074 0.00009
NM_080680.3(COL11A2):c.3999A>G (p.Gly1333=) rs201392156 0.00009
NM_080680.3(COL11A2):c.4000G>C (p.Gly1334Arg) rs200574827 0.00009
NM_080680.3(COL11A2):c.483C>T (p.Val161=) rs754610645 0.00009
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466 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.4821A>C (p.Ala1607=) rs749261447 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.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.4056G>A (p.Pro1352=) rs769169475 0.00007
NM_080680.3(COL11A2):c.1188C>T (p.Leu396=) rs532305958 0.00006
NM_080680.3(COL11A2):c.1236C>G (p.Pro412=) rs541288921 0.00006
NM_080680.3(COL11A2):c.1971+6C>T rs746341530 0.00006
NM_080680.3(COL11A2):c.2268+8G>A rs373463428 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.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.291A>G (p.Gln97=) rs538869102 0.00005
NM_080680.3(COL11A2):c.3675C>T (p.Gly1225=) rs771644818 0.00005
NM_080680.3(COL11A2):c.4545G>A (p.Ser1515=) rs367885056 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.-44G>A rs750744838 0.00004
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.1665+17C>T rs543296211 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.2433G>C (p.Gly811=) rs780265815 0.00004
NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln) rs761524468 0.00004
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=) rs565891154 0.00004
NM_080680.3(COL11A2):c.2899-11T>C rs932914745 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.3974C>T (p.Ser1325Leu) rs543145528 0.00004
NM_080680.3(COL11A2):c.4026C>T (p.Gly1342=) rs778423110 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.5028G>A (p.Pro1676=) rs144290562 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.1971+20C>T rs770912127 0.00003
NM_080680.3(COL11A2):c.2214+19G>A rs370515541 0.00003
NM_080680.3(COL11A2):c.2430+19C>T rs764083806 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.324T>C (p.Gly108=) rs935876736 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.4206C>T (p.Gly1402=) rs201642192 0.00003
NM_080680.3(COL11A2):c.4356C>T (p.Ser1452=) rs199515114 0.00003
NM_080680.3(COL11A2):c.606+11C>T rs368302768 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.1557+19T>C rs374716901 0.00002
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn) rs751888761 0.00002
NM_080680.3(COL11A2):c.1971+12C>T rs201383281 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.3058C>T (p.Arg1020Ter) rs911722283 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.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5113C>T (p.Leu1705=) rs367748056 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.1260C>T (p.Gly420=) rs779224706 0.00001
NM_080680.3(COL11A2):c.1284+15T>C rs1057524527 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.144G>A (p.Arg48=) rs373983197 0.00001
NM_080680.3(COL11A2):c.1524C>T (p.Gly508=) rs1465511059 0.00001
NM_080680.3(COL11A2):c.1665+15C>A rs781663197 0.00001
NM_080680.3(COL11A2):c.1719+19G>A rs752762822 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.2116-8T>C rs778098198 0.00001
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg) rs768569721 0.00001
NM_080680.3(COL11A2):c.232+19G>A rs766263650 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.2718A>C (p.Pro906=) rs769310840 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.300C>G (p.Leu100=) rs773467866 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.3637-19G>T rs1427818109 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.4392+1G>A rs750995470 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.5071-10C>T rs771886624 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.678G>A (p.Leu226=) rs1477141287 0.00001
NM_080680.3(COL11A2):c.689G>A (p.Gly230Glu) rs143571317 0.00001
NM_080680.3(COL11A2):c.789C>T (p.Pro263=) rs1480123800 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.*7CT[1] rs748994421
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.1119+14G>A rs1554223383
NM_080680.3(COL11A2):c.1119+217_1119+219del rs144322229
NM_080680.3(COL11A2):c.1120-200del rs56076919
NM_080680.3(COL11A2):c.1120-205G>C rs2855416
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.1221G>A (p.Ala407=) rs1554221935
NM_080680.3(COL11A2):c.1286G>A (p.Gly429Asp)
NM_080680.3(COL11A2):c.1292C>G (p.Pro431Arg) rs1437997364
NM_080680.3(COL11A2):c.1359+17del rs765250820
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.1606C>T (p.Arg536Ter)
NM_080680.3(COL11A2):c.1612-3C>T
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)
NM_080680.3(COL11A2):c.1666-11CCT[2] rs147815324
NM_080680.3(COL11A2):c.1796C>G (p.Pro599Arg)
NM_080680.3(COL11A2):c.1806G>A (p.Leu602=) rs1583343003
NM_080680.3(COL11A2):c.1817C>G (p.Ser606Trp) rs147328015
NM_080680.3(COL11A2):c.1851A>G (p.Pro617=) rs768060130
NM_080680.3(COL11A2):c.1872+5G>A rs727504891
NM_080680.3(COL11A2):c.187G>A (p.Ala63Thr) rs2150624994
NM_080680.3(COL11A2):c.190C>T (p.Arg64Ter) rs1554226209
NM_080680.3(COL11A2):c.1921C>T (p.Pro641Ser)
NM_080680.3(COL11A2):c.1980C>T (p.Pro660=) rs2229786
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.2136A>C (p.Gly712=) rs1799908
NM_080680.3(COL11A2):c.2169+1G>T rs2150568816
NM_080680.3(COL11A2):c.2169+4A>G
NM_080680.3(COL11A2):c.2173G>A (p.Val725Met) rs1554219686
NM_080680.3(COL11A2):c.2179G>T (p.Gly727Ter) rs768569721
NM_080680.3(COL11A2):c.218G>T (p.Arg73Leu)
NM_080680.3(COL11A2):c.2206G>C (p.Gly736Arg) rs1284405190
NM_080680.3(COL11A2):c.2214+88G>C rs2254287
NM_080680.3(COL11A2):c.2215-9C>G rs373659846
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.2430+142G>T rs2076312
NM_080680.3(COL11A2):c.2430+15C>T rs1471667955
NM_080680.3(COL11A2):c.2431-18del rs9280359
NM_080680.3(COL11A2):c.2431-68C>G rs541250351
NM_080680.3(COL11A2):c.2482C>T (p.Arg828Trp)
NM_080680.3(COL11A2):c.2484+13del rs55730247
NM_080680.3(COL11A2):c.2583+1G>A rs1554218503
NM_080680.3(COL11A2):c.2583+6T>C
NM_080680.3(COL11A2):c.2584-5del rs555657704
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.2658G>A (p.Gly886=) rs762110287
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) rs779878105
NM_080680.3(COL11A2):c.2730A>G (p.Gly910=) rs1554218154
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.2899-9del rs397517477
NM_080680.3(COL11A2):c.2988+14C>G rs1554217416
NM_080680.3(COL11A2):c.2988+53C>A rs10428747
NM_080680.3(COL11A2):c.3010A>G (p.Asn1004Asp)
NM_080680.3(COL11A2):c.3042+4A>G rs2150549308
NM_080680.3(COL11A2):c.3043-10G>A rs1583313311
NM_080680.3(COL11A2):c.3043-65T>C rs2855434
NM_080680.3(COL11A2):c.3056A>G (p.Glu1019Gly) rs2150548250
NM_080680.3(COL11A2):c.3098G>A (p.Gly1033Glu)
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3111G>A (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3133G>T (p.Gly1045Ter)
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.3313-20_3313-17del rs574904915
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.3366+21del rs764291451
NM_080680.3(COL11A2):c.339_340delinsG (p.Leu114fs) rs1554225999
NM_080680.3(COL11A2):c.3431G>T (p.Gly1144Val) rs2150543076
NM_080680.3(COL11A2):c.3475-83del rs145273015
NM_080680.3(COL11A2):c.3528+8_3528+9del rs1343647230
NM_080680.3(COL11A2):c.353G>A (p.Arg118Gln) rs41268014
NM_080680.3(COL11A2):c.3543C>T (p.Pro1181=) rs1554215751
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.3690+9C>T rs1397368233
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.3831C>T (p.Pro1277=) rs1007732519
NM_080680.3(COL11A2):c.3839A>T (p.Glu1280Val)
NM_080680.3(COL11A2):c.3852+50dup rs113461359
NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter) rs746754428
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.4135C>T (p.Arg1379Ter) rs121912950
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.4338+19C>A rs1554212804
NM_080680.3(COL11A2):c.4344C>A (p.Ile1448=) rs554269032
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.4425C>A (p.Ala1475=) rs2150519879
NM_080680.3(COL11A2):c.4452G>T (p.Glu1484Asp)
NM_080680.3(COL11A2):c.4482+5G>C
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.4689C>T (p.Thr1563=) rs1057523656
NM_080680.3(COL11A2):c.4735C>A (p.Pro1579Thr) rs1768986350
NM_080680.3(COL11A2):c.4854C>T (p.Asp1618=) rs151319255
NM_080680.3(COL11A2):c.4864-32_4864-7del rs767389906
NM_080680.3(COL11A2):c.4864-58CCCTCTGAGGCCAGCCCTCTCTCTCC[3] rs767389906
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.508C>T (p.Arg170Ter)
NM_080680.3(COL11A2):c.5152C>G (p.Leu1718Val) rs1413052565
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
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.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.83-24_83-22del rs755962760
NM_080680.3(COL11A2):c.847A>G (p.Met283Val)
NM_080680.3(COL11A2):c.86C>T (p.Ala29Val) rs2150625714
NM_080680.3(COL11A2):c.877-291G>C rs2744505
NM_080680.3(COL11A2):c.883A>C (p.Thr295Pro)
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491

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