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
|
|