Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33164852C>ACA363617361COL11A2n.669G>T
c.4863G>T (p.Gln1621His)
c.4542G>T (p.Gln1514His)
c.4605G>T (p.Gln1535His)
n.653G>T
c.4017G>T (p.Gln1339His)
c.4149G>T (p.Gln1383His)
c.3969G>T (p.Gln1323His)
c.3906G>T (p.Gln1302His)
c.3750G>T (p.Gln1250His)
c.3681G>T (p.Gln1227His)
 gnomAD v4
6g.33164852C>GCA363617363COL11A2n.669G>C
c.4863G>C (p.Gln1621His)
c.4542G>C (p.Gln1514His)
c.4605G>C (p.Gln1535His)
n.653G>C
c.4017G>C (p.Gln1339His)
c.4149G>C (p.Gln1383His)
c.3969G>C (p.Gln1323His)
c.3906G>C (p.Gln1302His)
c.3750G>C (p.Gln1250His)
c.3681G>C (p.Gln1227His)
6g.33164852C>TCA449867219COL11A2n.669G>A
c.4863G>A (p.Gln1621=)
c.4542G>A (p.Gln1514=)
c.4605G>A (p.Gln1535=)
n.653G>A
c.4017G>A (p.Gln1339=)
c.4149G>A (p.Gln1383=)
c.3969G>A (p.Gln1323=)
c.3906G>A (p.Gln1302=)
c.3750G>A (p.Gln1250=)
c.3681G>A (p.Gln1227=)
6g.33164853T>ACA363617365COL11A2n.668A>T
c.4862A>T (p.Gln1621Leu)
c.4541A>T (p.Gln1514Leu)
c.4604A>T (p.Gln1535Leu)
n.652A>T
c.4016A>T (p.Gln1339Leu)
c.4148A>T (p.Gln1383Leu)
c.3968A>T (p.Gln1323Leu)
c.3905A>T (p.Gln1302Leu)
c.3749A>T (p.Gln1250Leu)
c.3680A>T (p.Gln1227Leu)
6g.33164853T>CCA363617367COL11A2n.668A>G
c.4862A>G (p.Gln1621Arg)
c.4541A>G (p.Gln1514Arg)
c.4604A>G (p.Gln1535Arg)
n.652A>G
c.4016A>G (p.Gln1339Arg)
c.4148A>G (p.Gln1383Arg)
c.3968A>G (p.Gln1323Arg)
c.3905A>G (p.Gln1302Arg)
c.3749A>G (p.Gln1250Arg)
c.3680A>G (p.Gln1227Arg)
 ClinVar dbSNP
6g.33164853T>GCA363617369COL11A2n.668A>C
c.4862A>C (p.Gln1621Pro)
c.4541A>C (p.Gln1514Pro)
c.4604A>C (p.Gln1535Pro)
n.652A>C
c.4016A>C (p.Gln1339Pro)
c.4148A>C (p.Gln1383Pro)
c.3968A>C (p.Gln1323Pro)
c.3905A>C (p.Gln1302Pro)
c.3749A>C (p.Gln1250Pro)
c.3680A>C (p.Gln1227Pro)
6g.33164854G>ACA363617370COL11A2n.667C>T
c.4861C>T (p.Gln1621Ter)
c.4540C>T (p.Gln1514Ter)
c.4603C>T (p.Gln1535Ter)
n.651C>T
c.4015C>T (p.Gln1339Ter)
c.4147C>T (p.Gln1383Ter)
c.3967C>T (p.Gln1323Ter)
c.3904C>T (p.Gln1302Ter)
c.3748C>T (p.Gln1250Ter)
c.3679C>T (p.Gln1227Ter)
6g.33164854G>CCA363617372COL11A2n.667C>G
c.4861C>G (p.Gln1621Glu)
c.4540C>G (p.Gln1514Glu)
c.4603C>G (p.Gln1535Glu)
n.651C>G
c.4015C>G (p.Gln1339Glu)
c.4147C>G (p.Gln1383Glu)
c.3967C>G (p.Gln1323Glu)
c.3904C>G (p.Gln1302Glu)
c.3748C>G (p.Gln1250Glu)
c.3679C>G (p.Gln1227Glu)
6g.33164854G>TCA363617374COL11A2n.667C>A
c.4861C>A (p.Gln1621Lys)
c.4540C>A (p.Gln1514Lys)
c.4603C>A (p.Gln1535Lys)
n.651C>A
c.4015C>A (p.Gln1339Lys)
c.4147C>A (p.Gln1383Lys)
c.3967C>A (p.Gln1323Lys)
c.3904C>A (p.Gln1302Lys)
c.3748C>A (p.Gln1250Lys)
c.3679C>A (p.Gln1227Lys)
 gnomAD v4
6g.33164855C>ACA449867223COL11A2n.666G>T
c.4860G>T (p.Thr1620=)
c.4539G>T (p.Thr1513=)
c.4602G>T (p.Thr1534=)
n.650G>T
c.4014G>T (p.Thr1338=)
c.4146G>T (p.Thr1382=)
c.3966G>T (p.Thr1322=)
c.3903G>T (p.Thr1301=)
c.3747G>T (p.Thr1249=)
c.3678G>T (p.Thr1226=)
 dbSNP gnomAD v4
6g.33164855C=CA1619890404COL11A2n.666G=
c.4860G= (p.Thr1620=)
c.4539G= (p.Thr1513=)
c.4602G= (p.Thr1534=)
n.650G=
c.4014G= (p.Thr1338=)
c.4146G= (p.Thr1382=)
c.3966G= (p.Thr1322=)
c.3903G= (p.Thr1301=)
c.3747G= (p.Thr1249=)
c.3678G= (p.Thr1226=)
6g.33164855C>GCA449867224COL11A2n.666G>C
c.4860G>C (p.Thr1620=)
c.4539G>C (p.Thr1513=)
c.4602G>C (p.Thr1534=)
n.650G>C
c.4014G>C (p.Thr1338=)
c.4146G>C (p.Thr1382=)
c.3966G>C (p.Thr1322=)
c.3903G>C (p.Thr1301=)
c.3747G>C (p.Thr1249=)
c.3678G>C (p.Thr1226=)
6g.33164855C>TCA3749985COL11A2n.666G>A
c.4860G>A (p.Thr1620=)
c.4539G>A (p.Thr1513=)
c.4602G>A (p.Thr1534=)
n.650G>A
c.4014G>A (p.Thr1338=)
c.4146G>A (p.Thr1382=)
c.3966G>A (p.Thr1322=)
c.3903G>A (p.Thr1301=)
c.3747G>A (p.Thr1249=)
c.3678G>A (p.Thr1226=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164856G>ACA3749986COL11A2n.665C>T
c.4859C>T (p.Thr1620Met)
c.4538C>T (p.Thr1513Met)
c.4601C>T (p.Thr1534Met)
n.649C>T
c.4013C>T (p.Thr1338Met)
c.4145C>T (p.Thr1382Met)
c.3965C>T (p.Thr1322Met)
c.3902C>T (p.Thr1301Met)
c.3746C>T (p.Thr1249Met)
c.3677C>T (p.Thr1226Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164856G>CCA363617377COL11A2n.665C>G
c.4859C>G (p.Thr1620Arg)
c.4538C>G (p.Thr1513Arg)
c.4601C>G (p.Thr1534Arg)
n.649C>G
c.4013C>G (p.Thr1338Arg)
c.4145C>G (p.Thr1382Arg)
c.3965C>G (p.Thr1322Arg)
c.3902C>G (p.Thr1301Arg)
c.3746C>G (p.Thr1249Arg)
c.3677C>G (p.Thr1226Arg)
6g.33164856G=CA1619890409COL11A2n.665C=
c.4859C= (p.Thr1620=)
c.4538C= (p.Thr1513=)
c.4601C= (p.Thr1534=)
n.649C=
c.4013C= (p.Thr1338=)
c.4145C= (p.Thr1382=)
c.3965C= (p.Thr1322=)
c.3902C= (p.Thr1301=)
c.3746C= (p.Thr1249=)
c.3677C= (p.Thr1226=)
6g.33164856G>TCA363617380COL11A2n.665C>A
c.4859C>A (p.Thr1620Lys)
c.4538C>A (p.Thr1513Lys)
c.4601C>A (p.Thr1534Lys)
n.649C>A
c.4013C>A (p.Thr1338Lys)
c.4145C>A (p.Thr1382Lys)
c.3965C>A (p.Thr1322Lys)
c.3902C>A (p.Thr1301Lys)
c.3746C>A (p.Thr1249Lys)
c.3677C>A (p.Thr1226Lys)
 dbSNP gnomAD v4
6g.33164857T>ACA363617382COL11A2n.664A>T
c.4858A>T (p.Thr1620Ser)
c.4537A>T (p.Thr1513Ser)
c.4600A>T (p.Thr1534Ser)
n.648A>T
c.4012A>T (p.Thr1338Ser)
c.4144A>T (p.Thr1382Ser)
c.3964A>T (p.Thr1322Ser)
c.3901A>T (p.Thr1301Ser)
c.3745A>T (p.Thr1249Ser)
c.3676A>T (p.Thr1226Ser)
6g.33164857T>CCA363617383COL11A2n.664A>G
c.4858A>G (p.Thr1620Ala)
c.4537A>G (p.Thr1513Ala)
c.4600A>G (p.Thr1534Ala)
n.648A>G
c.4012A>G (p.Thr1338Ala)
c.4144A>G (p.Thr1382Ala)
c.3964A>G (p.Thr1322Ala)
c.3901A>G (p.Thr1301Ala)
c.3745A>G (p.Thr1249Ala)
c.3676A>G (p.Thr1226Ala)
6g.33164857T>GCA363617385COL11A2n.664A>C
c.4858A>C (p.Thr1620Pro)
c.4537A>C (p.Thr1513Pro)
c.4600A>C (p.Thr1534Pro)
n.648A>C
c.4012A>C (p.Thr1338Pro)
c.4144A>C (p.Thr1382Pro)
c.3964A>C (p.Thr1322Pro)
c.3901A>C (p.Thr1301Pro)
c.3745A>C (p.Thr1249Pro)
c.3676A>C (p.Thr1226Pro)
6g.33164858G>ACA449867229COL11A2n.663C>T
c.4857C>T (p.Val1619=)
c.4536C>T (p.Val1512=)
c.4599C>T (p.Val1533=)
n.647C>T
c.4011C>T (p.Val1337=)
c.4143C>T (p.Val1381=)
c.3963C>T (p.Val1321=)
c.3900C>T (p.Val1300=)
c.3744C>T (p.Val1248=)
c.3675C>T (p.Val1225=)
6g.33164858G>CCA449867231COL11A2n.663C>G
c.4857C>G (p.Val1619=)
c.4536C>G (p.Val1512=)
c.4599C>G (p.Val1533=)
n.647C>G
c.4011C>G (p.Val1337=)
c.4143C>G (p.Val1381=)
c.3963C>G (p.Val1321=)
c.3900C>G (p.Val1300=)
c.3744C>G (p.Val1248=)
c.3675C>G (p.Val1225=)
 gnomAD v3 gnomAD v4
6g.33164858G>TCA449867230COL11A2n.663C>A
c.4857C>A (p.Val1619=)
c.4536C>A (p.Val1512=)
c.4599C>A (p.Val1533=)
n.647C>A
c.4011C>A (p.Val1337=)
c.4143C>A (p.Val1381=)
c.3963C>A (p.Val1321=)
c.3900C>A (p.Val1300=)
c.3744C>A (p.Val1248=)
c.3675C>A (p.Val1225=)
6g.33164859A=CA1619890415COL11A2n.662T=
c.4856T= (p.Val1619=)
c.4535T= (p.Val1512=)
c.4598T= (p.Val1533=)
n.646T=
c.4010T= (p.Val1337=)
c.4142T= (p.Val1381=)
c.3962T= (p.Val1321=)
c.3899T= (p.Val1300=)
c.3743T= (p.Val1248=)
c.3674T= (p.Val1225=)
6g.33164859A>CCA363617391COL11A2n.662T>G
c.4856T>G (p.Val1619Gly)
c.4535T>G (p.Val1512Gly)
c.4598T>G (p.Val1533Gly)
n.646T>G
c.4010T>G (p.Val1337Gly)
c.4142T>G (p.Val1381Gly)
c.3962T>G (p.Val1321Gly)
c.3899T>G (p.Val1300Gly)
c.3743T>G (p.Val1248Gly)
c.3674T>G (p.Val1225Gly)
6g.33164859A>GCA3749987COL11A2n.662T>C
c.4856T>C (p.Val1619Ala)
c.4535T>C (p.Val1512Ala)
c.4598T>C (p.Val1533Ala)
n.646T>C
c.4010T>C (p.Val1337Ala)
c.4142T>C (p.Val1381Ala)
c.3962T>C (p.Val1321Ala)
c.3899T>C (p.Val1300Ala)
c.3743T>C (p.Val1248Ala)
c.3674T>C (p.Val1225Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164859A>TCA363617387COL11A2n.662T>A
c.4856T>A (p.Val1619Asp)
c.4535T>A (p.Val1512Asp)
c.4598T>A (p.Val1533Asp)
n.646T>A
c.4010T>A (p.Val1337Asp)
c.4142T>A (p.Val1381Asp)
c.3962T>A (p.Val1321Asp)
c.3899T>A (p.Val1300Asp)
c.3743T>A (p.Val1248Asp)
c.3674T>A (p.Val1225Asp)
 dbSNP gnomAD v2
6g.33164860C>ACA363617394COL11A2n.661G>T
c.4855G>T (p.Val1619Phe)
c.4534G>T (p.Val1512Phe)
c.4597G>T (p.Val1533Phe)
n.645G>T
c.4009G>T (p.Val1337Phe)
c.4141G>T (p.Val1381Phe)
c.3961G>T (p.Val1321Phe)
c.3898G>T (p.Val1300Phe)
c.3742G>T (p.Val1248Phe)
c.3673G>T (p.Val1225Phe)
6g.33164860C=CA1619890421COL11A2n.661G=
c.4855G= (p.Val1619=)
c.4534G= (p.Val1512=)
c.4597G= (p.Val1533=)
n.645G=
c.4009G= (p.Val1337=)
c.4141G= (p.Val1381=)
c.3961G= (p.Val1321=)
c.3898G= (p.Val1300=)
c.3742G= (p.Val1248=)
c.3673G= (p.Val1225=)
6g.33164860C>GCA363617395COL11A2n.661G>C
c.4855G>C (p.Val1619Leu)
c.4534G>C (p.Val1512Leu)
c.4597G>C (p.Val1533Leu)
n.645G>C
c.4009G>C (p.Val1337Leu)
c.4141G>C (p.Val1381Leu)
c.3961G>C (p.Val1321Leu)
c.3898G>C (p.Val1300Leu)
c.3742G>C (p.Val1248Leu)
c.3673G>C (p.Val1225Leu)
6g.33164860C>TCA363617396COL11A2n.661G>A
c.4855G>A (p.Val1619Ile)
c.4534G>A (p.Val1512Ile)
c.4597G>A (p.Val1533Ile)
n.645G>A
c.4009G>A (p.Val1337Ile)
c.4141G>A (p.Val1381Ile)
c.3961G>A (p.Val1321Ile)
c.3898G>A (p.Val1300Ile)
c.3742G>A (p.Val1248Ile)
c.3673G>A (p.Val1225Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164861G>ACA3749988COL11A2n.660C>T
c.4854C>T (p.Asp1618=)
c.4533C>T (p.Asp1511=)
c.4596C>T (p.Asp1532=)
n.644C>T
c.4008C>T (p.Asp1336=)
c.4140C>T (p.Asp1380=)
c.3960C>T (p.Asp1320=)
c.3897C>T (p.Asp1299=)
c.3741C>T (p.Asp1247=)
c.3672C>T (p.Asp1224=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33164861G>CCA3749989COL11A2n.660C>G
c.4854C>G (p.Asp1618Glu)
c.4533C>G (p.Asp1511Glu)
c.4596C>G (p.Asp1532Glu)
n.644C>G
c.4008C>G (p.Asp1336Glu)
c.4140C>G (p.Asp1380Glu)
c.3960C>G (p.Asp1320Glu)
c.3897C>G (p.Asp1299Glu)
c.3741C>G (p.Asp1247Glu)
c.3672C>G (p.Asp1224Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33164861G=CA1619890425COL11A2n.660C=
c.4854C= (p.Asp1618=)
c.4533C= (p.Asp1511=)
c.4596C= (p.Asp1532=)
n.644C=
c.4008C= (p.Asp1336=)
c.4140C= (p.Asp1380=)
c.3960C= (p.Asp1320=)
c.3897C= (p.Asp1299=)
c.3741C= (p.Asp1247=)
c.3672C= (p.Asp1224=)
6g.33164861G>TCA363617400COL11A2n.660C>A
c.4854C>A (p.Asp1618Glu)
c.4533C>A (p.Asp1511Glu)
c.4596C>A (p.Asp1532Glu)
n.644C>A
c.4008C>A (p.Asp1336Glu)
c.4140C>A (p.Asp1380Glu)
c.3960C>A (p.Asp1320Glu)
c.3897C>A (p.Asp1299Glu)
c.3741C>A (p.Asp1247Glu)
c.3672C>A (p.Asp1224Glu)
 ClinVar
6g.33164862T>ACA363617401COL11A2n.659A>T
c.4853A>T (p.Asp1618Val)
c.4532A>T (p.Asp1511Val)
c.4595A>T (p.Asp1532Val)
n.643A>T
c.4007A>T (p.Asp1336Val)
c.4139A>T (p.Asp1380Val)
c.3959A>T (p.Asp1320Val)
c.3896A>T (p.Asp1299Val)
c.3740A>T (p.Asp1247Val)
c.3671A>T (p.Asp1224Val)
6g.33164862T>CCA363617405COL11A2n.659A>G
c.4853A>G (p.Asp1618Gly)
c.4532A>G (p.Asp1511Gly)
c.4595A>G (p.Asp1532Gly)
n.643A>G
c.4007A>G (p.Asp1336Gly)
c.4139A>G (p.Asp1380Gly)
c.3959A>G (p.Asp1320Gly)
c.3896A>G (p.Asp1299Gly)
c.3740A>G (p.Asp1247Gly)
c.3671A>G (p.Asp1224Gly)
6g.33164862T>GCA363617403COL11A2n.659A>C
c.4853A>C (p.Asp1618Ala)
c.4532A>C (p.Asp1511Ala)
c.4595A>C (p.Asp1532Ala)
n.643A>C
c.4007A>C (p.Asp1336Ala)
c.4139A>C (p.Asp1380Ala)
c.3959A>C (p.Asp1320Ala)
c.3896A>C (p.Asp1299Ala)
c.3740A>C (p.Asp1247Ala)
c.3671A>C (p.Asp1224Ala)
6g.33164862_33164866delCA2770563340COL11A2n.655_659del
c.4849_4853del (p.Asp1617ArgfsTer?)
c.4528_4532del (p.Asp1510ArgfsTer?)
c.4591_4595del (p.Asp1531ArgfsTer?)
n.639_643del
c.4003_4007del (p.Asp1335ArgfsTer?)
c.4135_4139del (p.Asp1379ArgfsTer?)
c.3955_3959del (p.Asp1319ArgfsTer?)
c.3892_3896del (p.Asp1298ArgfsTer?)
c.3736_3740del (p.Asp1246ArgfsTer?)
c.3667_3671del (p.Asp1223ArgfsTer?)
6g.33164863C>ACA363617406COL11A2n.658G>T
c.4852G>T (p.Asp1618Tyr)
c.4531G>T (p.Asp1511Tyr)
c.4594G>T (p.Asp1532Tyr)
n.642G>T
c.4006G>T (p.Asp1336Tyr)
c.4138G>T (p.Asp1380Tyr)
c.3958G>T (p.Asp1320Tyr)
c.3895G>T (p.Asp1299Tyr)
c.3739G>T (p.Asp1247Tyr)
c.3670G>T (p.Asp1224Tyr)
 gnomAD v4
6g.33164863C>GCA363617408COL11A2n.658G>C
c.4852G>C (p.Asp1618His)
c.4531G>C (p.Asp1511His)
c.4594G>C (p.Asp1532His)
n.642G>C
c.4006G>C (p.Asp1336His)
c.4138G>C (p.Asp1380His)
c.3958G>C (p.Asp1320His)
c.3895G>C (p.Asp1299His)
c.3739G>C (p.Asp1247His)
c.3670G>C (p.Asp1224His)
6g.33164863C>TCA363617410COL11A2n.658G>A
c.4852G>A (p.Asp1618Asn)
c.4531G>A (p.Asp1511Asn)
c.4594G>A (p.Asp1532Asn)
n.642G>A
c.4006G>A (p.Asp1336Asn)
c.4138G>A (p.Asp1380Asn)
c.3958G>A (p.Asp1320Asn)
c.3895G>A (p.Asp1299Asn)
c.3739G>A (p.Asp1247Asn)
c.3670G>A (p.Asp1224Asn)
6g.33164864A>CCA363617412COL11A2n.657T>G
c.4851T>G (p.Asp1617Glu)
c.4530T>G (p.Asp1510Glu)
c.4593T>G (p.Asp1531Glu)
n.641T>G
c.4005T>G (p.Asp1335Glu)
c.4137T>G (p.Asp1379Glu)
c.3957T>G (p.Asp1319Glu)
c.3894T>G (p.Asp1298Glu)
c.3738T>G (p.Asp1246Glu)
c.3669T>G (p.Asp1223Glu)
6g.33164864A>GCA449867243COL11A2n.657T>C
c.4851T>C (p.Asp1617=)
c.4530T>C (p.Asp1510=)
c.4593T>C (p.Asp1531=)
n.641T>C
c.4005T>C (p.Asp1335=)
c.4137T>C (p.Asp1379=)
c.3957T>C (p.Asp1319=)
c.3894T>C (p.Asp1298=)
c.3738T>C (p.Asp1246=)
c.3669T>C (p.Asp1223=)
6g.33164864A>TCA363617413COL11A2n.657T>A
c.4851T>A (p.Asp1617Glu)
c.4530T>A (p.Asp1510Glu)
c.4593T>A (p.Asp1531Glu)
n.641T>A
c.4005T>A (p.Asp1335Glu)
c.4137T>A (p.Asp1379Glu)
c.3957T>A (p.Asp1319Glu)
c.3894T>A (p.Asp1298Glu)
c.3738T>A (p.Asp1246Glu)
c.3669T>A (p.Asp1223Glu)
6g.33164865T>ACA363617417COL11A2n.656A>T
c.4850A>T (p.Asp1617Val)
c.4529A>T (p.Asp1510Val)
c.4592A>T (p.Asp1531Val)
n.640A>T
c.4004A>T (p.Asp1335Val)
c.4136A>T (p.Asp1379Val)
c.3956A>T (p.Asp1319Val)
c.3893A>T (p.Asp1298Val)
c.3737A>T (p.Asp1246Val)
c.3668A>T (p.Asp1223Val)
6g.33164865T>CCA363617419COL11A2n.656A>G
c.4850A>G (p.Asp1617Gly)
c.4529A>G (p.Asp1510Gly)
c.4592A>G (p.Asp1531Gly)
n.640A>G
c.4004A>G (p.Asp1335Gly)
c.4136A>G (p.Asp1379Gly)
c.3956A>G (p.Asp1319Gly)
c.3893A>G (p.Asp1298Gly)
c.3737A>G (p.Asp1246Gly)
c.3668A>G (p.Asp1223Gly)
6g.33164865T>GCA363617420COL11A2n.656A>C
c.4850A>C (p.Asp1617Ala)
c.4529A>C (p.Asp1510Ala)
c.4592A>C (p.Asp1531Ala)
n.640A>C
c.4004A>C (p.Asp1335Ala)
c.4136A>C (p.Asp1379Ala)
c.3956A>C (p.Asp1319Ala)
c.3893A>C (p.Asp1298Ala)
c.3737A>C (p.Asp1246Ala)
c.3668A>C (p.Asp1223Ala)
6g.33164865_33164866delinsTCCA1619890432COL11A2n.655_656delinsGA
c.4849_4850delinsGA (p.Asp1617=)
c.4528_4529delinsGA (p.Asp1510=)
c.4591_4592delinsGA (p.Asp1531=)
n.639_640delinsGA
c.4003_4004delinsGA (p.Asp1335=)
c.4135_4136delinsGA (p.Asp1379=)
c.3955_3956delinsGA (p.Asp1319=)
c.3892_3893delinsGA (p.Asp1298=)
c.3736_3737delinsGA (p.Asp1246=)
c.3667_3668delinsGA (p.Asp1223=)
6g.33164866C>ACA363617422COL11A2n.655G>T
c.4849G>T (p.Asp1617Tyr)
c.4528G>T (p.Asp1510Tyr)
c.4591G>T (p.Asp1531Tyr)
n.639G>T
c.4003G>T (p.Asp1335Tyr)
c.4135G>T (p.Asp1379Tyr)
c.3955G>T (p.Asp1319Tyr)
c.3892G>T (p.Asp1298Tyr)
c.3736G>T (p.Asp1246Tyr)
c.3667G>T (p.Asp1223Tyr)
 dbSNP gnomAD v4
6g.33164866C=CA1619890436COL11A2n.655G=
c.4849G= (p.Asp1617=)
c.4528G= (p.Asp1510=)
c.4591G= (p.Asp1531=)
n.639G=
c.4003G= (p.Asp1335=)
c.4135G= (p.Asp1379=)
c.3955G= (p.Asp1319=)
c.3892G= (p.Asp1298=)
c.3736G= (p.Asp1246=)
c.3667G= (p.Asp1223=)
6g.33164866C>GCA363617424COL11A2n.655G>C
c.4849G>C (p.Asp1617His)
c.4528G>C (p.Asp1510His)
c.4591G>C (p.Asp1531His)
n.639G>C
c.4003G>C (p.Asp1335His)
c.4135G>C (p.Asp1379His)
c.3955G>C (p.Asp1319His)
c.3892G>C (p.Asp1298His)
c.3736G>C (p.Asp1246His)
c.3667G>C (p.Asp1223His)
6g.33164866C>TCA363617426COL11A2n.655G>A
c.4849G>A (p.Asp1617Asn)
c.4528G>A (p.Asp1510Asn)
c.4591G>A (p.Asp1531Asn)
n.639G>A
c.4003G>A (p.Asp1335Asn)
c.4135G>A (p.Asp1379Asn)
c.3955G>A (p.Asp1319Asn)
c.3892G>A (p.Asp1298Asn)
c.3736G>A (p.Asp1246Asn)
c.3667G>A (p.Asp1223Asn)
6g.33164868delCA566424989COL11A2n.655del
c.4849del (p.Asp1617MetfsTer?)
c.4528del (p.Asp1510MetfsTer?)
c.4591del (p.Asp1531MetfsTer?)
n.639del
c.4003del (p.Asp1335MetfsTer?)
c.4135del (p.Asp1379MetfsTer?)
c.3955del (p.Asp1319MetfsTer?)
c.3892del (p.Asp1298MetfsTer?)
c.3736del (p.Asp1246MetfsTer?)
c.3667del (p.Asp1223MetfsTer?)
 dbSNP gnomAD v2 gnomAD v4
6g.33164867C>ACA363617430COL11A2n.654G>T
c.4848G>T (p.Arg1616Ser)
c.4527G>T (p.Arg1509Ser)
c.4590G>T (p.Arg1530Ser)
n.638G>T
c.4002G>T (p.Arg1334Ser)
c.4134G>T (p.Arg1378Ser)
c.3954G>T (p.Arg1318Ser)
c.3891G>T (p.Arg1297Ser)
c.3735G>T (p.Arg1245Ser)
c.3666G>T (p.Arg1222Ser)
 gnomAD v4
6g.33164867C>GCA363617428COL11A2n.654G>C
c.4848G>C (p.Arg1616Ser)
c.4527G>C (p.Arg1509Ser)
c.4590G>C (p.Arg1530Ser)
n.638G>C
c.4002G>C (p.Arg1334Ser)
c.4134G>C (p.Arg1378Ser)
c.3954G>C (p.Arg1318Ser)
c.3891G>C (p.Arg1297Ser)
c.3735G>C (p.Arg1245Ser)
c.3666G>C (p.Arg1222Ser)
6g.33164867C>TCA449867248COL11A2n.654G>A
c.4848G>A (p.Arg1616=)
c.4527G>A (p.Arg1509=)
c.4590G>A (p.Arg1530=)
n.638G>A
c.4002G>A (p.Arg1334=)
c.4134G>A (p.Arg1378=)
c.3954G>A (p.Arg1318=)
c.3891G>A (p.Arg1297=)
c.3735G>A (p.Arg1245=)
c.3666G>A (p.Arg1222=)
6g.33164868C>ACA363617432COL11A2n.653G>T
c.4847G>T (p.Arg1616Met)
c.4526G>T (p.Arg1509Met)
c.4589G>T (p.Arg1530Met)
n.637G>T
c.4001G>T (p.Arg1334Met)
c.4133G>T (p.Arg1378Met)
c.3953G>T (p.Arg1318Met)
c.3890G>T (p.Arg1297Met)
c.3734G>T (p.Arg1245Met)
c.3665G>T (p.Arg1222Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164868C=CA1619890441COL11A2n.653G=
c.4847G= (p.Arg1616=)
c.4526G= (p.Arg1509=)
c.4589G= (p.Arg1530=)
n.637G=
c.4001G= (p.Arg1334=)
c.4133G= (p.Arg1378=)
c.3953G= (p.Arg1318=)
c.3890G= (p.Arg1297=)
c.3734G= (p.Arg1245=)
c.3665G= (p.Arg1222=)
6g.33164868C>GCA363617436COL11A2n.653G>C
c.4847G>C (p.Arg1616Thr)
c.4526G>C (p.Arg1509Thr)
c.4589G>C (p.Arg1530Thr)
n.637G>C
c.4001G>C (p.Arg1334Thr)
c.4133G>C (p.Arg1378Thr)
c.3953G>C (p.Arg1318Thr)
c.3890G>C (p.Arg1297Thr)
c.3734G>C (p.Arg1245Thr)
c.3665G>C (p.Arg1222Thr)
6g.33164868C>TCA363617434COL11A2n.653G>A
c.4847G>A (p.Arg1616Lys)
c.4526G>A (p.Arg1509Lys)
c.4589G>A (p.Arg1530Lys)
n.637G>A
c.4001G>A (p.Arg1334Lys)
c.4133G>A (p.Arg1378Lys)
c.3953G>A (p.Arg1318Lys)
c.3890G>A (p.Arg1297Lys)
c.3734G>A (p.Arg1245Lys)
c.3665G>A (p.Arg1222Lys)
 ClinVar
6g.33164869T>ACA363617438COL11A2n.652A>T
c.4846A>T (p.Arg1616Trp)
c.4525A>T (p.Arg1509Trp)
c.4588A>T (p.Arg1530Trp)
n.636A>T
c.4000A>T (p.Arg1334Trp)
c.4132A>T (p.Arg1378Trp)
c.3952A>T (p.Arg1318Trp)
c.3889A>T (p.Arg1297Trp)
c.3733A>T (p.Arg1245Trp)
c.3664A>T (p.Arg1222Trp)
6g.33164869T>CCA363617439COL11A2n.652A>G
c.4846A>G (p.Arg1616Gly)
c.4525A>G (p.Arg1509Gly)
c.4588A>G (p.Arg1530Gly)
n.636A>G
c.4000A>G (p.Arg1334Gly)
c.4132A>G (p.Arg1378Gly)
c.3952A>G (p.Arg1318Gly)
c.3889A>G (p.Arg1297Gly)
c.3733A>G (p.Arg1245Gly)
c.3664A>G (p.Arg1222Gly)
6g.33164869T>GCA449867252COL11A2n.652A>C
c.4846A>C (p.Arg1616=)
c.4525A>C (p.Arg1509=)
c.4588A>C (p.Arg1530=)
n.636A>C
c.4000A>C (p.Arg1334=)
c.4132A>C (p.Arg1378=)
c.3952A>C (p.Arg1318=)
c.3889A>C (p.Arg1297=)
c.3733A>C (p.Arg1245=)
c.3664A>C (p.Arg1222=)
6g.33164870A>CCA449867255COL11A2n.651T>G
c.4845T>G (p.Pro1615=)
c.4524T>G (p.Pro1508=)
c.4587T>G (p.Pro1529=)
n.635T>G
c.3999T>G (p.Pro1333=)
c.4131T>G (p.Pro1377=)
c.3951T>G (p.Pro1317=)
c.3888T>G (p.Pro1296=)
c.3732T>G (p.Pro1244=)
c.3663T>G (p.Pro1221=)
6g.33164870A>GCA449867256COL11A2n.651T>C
c.4845T>C (p.Pro1615=)
c.4524T>C (p.Pro1508=)
c.4587T>C (p.Pro1529=)
n.635T>C
c.3999T>C (p.Pro1333=)
c.4131T>C (p.Pro1377=)
c.3951T>C (p.Pro1317=)
c.3888T>C (p.Pro1296=)
c.3732T>C (p.Pro1244=)
c.3663T>C (p.Pro1221=)
 gnomAD v4
6g.33164870A>TCA449867257COL11A2n.651T>A
c.4845T>A (p.Pro1615=)
c.4524T>A (p.Pro1508=)
c.4587T>A (p.Pro1529=)
n.635T>A
c.3999T>A (p.Pro1333=)
c.4131T>A (p.Pro1377=)
c.3951T>A (p.Pro1317=)
c.3888T>A (p.Pro1296=)
c.3732T>A (p.Pro1244=)
c.3663T>A (p.Pro1221=)
6g.33164871G>ACA363617442COL11A2n.650C>T
c.4844C>T (p.Pro1615Leu)
c.4523C>T (p.Pro1508Leu)
c.4586C>T (p.Pro1529Leu)
n.634C>T
c.3998C>T (p.Pro1333Leu)
c.4130C>T (p.Pro1377Leu)
c.3950C>T (p.Pro1317Leu)
c.3887C>T (p.Pro1296Leu)
c.3731C>T (p.Pro1244Leu)
c.3662C>T (p.Pro1221Leu)
6g.33164871G>CCA363617445COL11A2n.650C>G
c.4844C>G (p.Pro1615Arg)
c.4523C>G (p.Pro1508Arg)
c.4586C>G (p.Pro1529Arg)
n.634C>G
c.3998C>G (p.Pro1333Arg)
c.4130C>G (p.Pro1377Arg)
c.3950C>G (p.Pro1317Arg)
c.3887C>G (p.Pro1296Arg)
c.3731C>G (p.Pro1244Arg)
c.3662C>G (p.Pro1221Arg)
6g.33164871G>TCA363617444COL11A2n.650C>A
c.4844C>A (p.Pro1615His)
c.4523C>A (p.Pro1508His)
c.4586C>A (p.Pro1529His)
n.634C>A
c.3998C>A (p.Pro1333His)
c.4130C>A (p.Pro1377His)
c.3950C>A (p.Pro1317His)
c.3887C>A (p.Pro1296His)
c.3731C>A (p.Pro1244His)
c.3662C>A (p.Pro1221His)
 gnomAD v4
6g.33164872delCA2678226910COL11A2n.650del
c.4844del (p.Pro1615LeufsTer?)
c.4523del (p.Pro1508LeufsTer?)
c.4586del (p.Pro1529LeufsTer?)
n.634del
c.3998del (p.Pro1333LeufsTer?)
c.4130del (p.Pro1377LeufsTer?)
c.3950del (p.Pro1317LeufsTer?)
c.3887del (p.Pro1296LeufsTer?)
c.3731del (p.Pro1244LeufsTer?)
c.3662del (p.Pro1221LeufsTer?)
 gnomAD v4
6g.33164872G>ACA363617448COL11A2n.649C>T
c.4843C>T (p.Pro1615Ser)
c.4522C>T (p.Pro1508Ser)
c.4585C>T (p.Pro1529Ser)
n.633C>T
c.3997C>T (p.Pro1333Ser)
c.4129C>T (p.Pro1377Ser)
c.3949C>T (p.Pro1317Ser)
c.3886C>T (p.Pro1296Ser)
c.3730C>T (p.Pro1244Ser)
c.3661C>T (p.Pro1221Ser)
 ClinVar gnomAD v4
6g.33164872G>CCA363617450COL11A2n.649C>G
c.4843C>G (p.Pro1615Ala)
c.4522C>G (p.Pro1508Ala)
c.4585C>G (p.Pro1529Ala)
n.633C>G
c.3997C>G (p.Pro1333Ala)
c.4129C>G (p.Pro1377Ala)
c.3949C>G (p.Pro1317Ala)
c.3886C>G (p.Pro1296Ala)
c.3730C>G (p.Pro1244Ala)
c.3661C>G (p.Pro1221Ala)
6g.33164872G>TCA363617451COL11A2n.649C>A
c.4843C>A (p.Pro1615Thr)
c.4522C>A (p.Pro1508Thr)
c.4585C>A (p.Pro1529Thr)
n.633C>A
c.3997C>A (p.Pro1333Thr)
c.4129C>A (p.Pro1377Thr)
c.3949C>A (p.Pro1317Thr)
c.3886C>A (p.Pro1296Thr)
c.3730C>A (p.Pro1244Thr)
c.3661C>A (p.Pro1221Thr)
 gnomAD v4
6g.33164874_33164896delCA658795171COL11A2n.627_649del
c.4821_4843del (p.Gly1608Ter)
c.4500_4522del (p.Gly1501Ter)
c.4563_4585del (p.Gly1522Ter)
n.611_633del
c.3975_3997del (p.Gly1326Ter)
c.4107_4129del (p.Gly1370Ter)
c.3927_3949del (p.Gly1310Ter)
c.3864_3886del (p.Gly1289Ter)
c.3708_3730del (p.Gly1237Ter)
c.3639_3661del (p.Gly1214Ter)
6g.33164872_33164873insGATGACA2770563346COL11A2n.648_649insTCATC
c.4842_4843insTCATC (p.Pro1615SerfsTer?)
c.4521_4522insTCATC (p.Pro1508SerfsTer?)
c.4584_4585insTCATC (p.Pro1529SerfsTer?)
n.632_633insTCATC
c.3996_3997insTCATC (p.Pro1333SerfsTer?)
c.4128_4129insTCATC (p.Pro1377SerfsTer?)
c.3948_3949insTCATC (p.Pro1317SerfsTer?)
c.3885_3886insTCATC (p.Pro1296SerfsTer?)
c.3729_3730insTCATC (p.Pro1244SerfsTer?)
c.3660_3661insTCATC (p.Pro1221SerfsTer?)
6g.33164873C>ACA449867261COL11A2n.648G>T
c.4842G>T (p.Thr1614=)
c.4521G>T (p.Thr1507=)
c.4584G>T (p.Thr1528=)
n.632G>T
c.3996G>T (p.Thr1332=)
c.4128G>T (p.Thr1376=)
c.3948G>T (p.Thr1316=)
c.3885G>T (p.Thr1295=)
c.3729G>T (p.Thr1243=)
c.3660G>T (p.Thr1220=)
 gnomAD v4
6g.33164873C=CA1619890444COL11A2n.648G=
c.4842G= (p.Thr1614=)
c.4521G= (p.Thr1507=)
c.4584G= (p.Thr1528=)
n.632G=
c.3996G= (p.Thr1332=)
c.4128G= (p.Thr1376=)
c.3948G= (p.Thr1316=)
c.3885G= (p.Thr1295=)
c.3729G= (p.Thr1243=)
c.3660G= (p.Thr1220=)
6g.33164873C>GCA449867263COL11A2n.648G>C
c.4842G>C (p.Thr1614=)
c.4521G>C (p.Thr1507=)
c.4584G>C (p.Thr1528=)
n.632G>C
c.3996G>C (p.Thr1332=)
c.4128G>C (p.Thr1376=)
c.3948G>C (p.Thr1316=)
c.3885G>C (p.Thr1295=)
c.3729G>C (p.Thr1243=)
c.3660G>C (p.Thr1220=)
6g.33164873C>TCA449867265COL11A2n.648G>A
c.4842G>A (p.Thr1614=)
c.4521G>A (p.Thr1507=)
c.4584G>A (p.Thr1528=)
n.632G>A
c.3996G>A (p.Thr1332=)
c.4128G>A (p.Thr1376=)
c.3948G>A (p.Thr1316=)
c.3885G>A (p.Thr1295=)
c.3729G>A (p.Thr1243=)
c.3660G>A (p.Thr1220=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164874G>ACA363617452COL11A2n.647C>T
c.4841C>T (p.Thr1614Met)
c.4520C>T (p.Thr1507Met)
c.4583C>T (p.Thr1528Met)
n.631C>T
c.3995C>T (p.Thr1332Met)
c.4127C>T (p.Thr1376Met)
c.3947C>T (p.Thr1316Met)
c.3884C>T (p.Thr1295Met)
c.3728C>T (p.Thr1243Met)
c.3659C>T (p.Thr1220Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164874G>CCA363617453COL11A2n.647C>G
c.4841C>G (p.Thr1614Arg)
c.4520C>G (p.Thr1507Arg)
c.4583C>G (p.Thr1528Arg)
n.631C>G
c.3995C>G (p.Thr1332Arg)
c.4127C>G (p.Thr1376Arg)
c.3947C>G (p.Thr1316Arg)
c.3884C>G (p.Thr1295Arg)
c.3728C>G (p.Thr1243Arg)
c.3659C>G (p.Thr1220Arg)
6g.33164874G=CA1619890449COL11A2n.647C=
c.4841C= (p.Thr1614=)
c.4520C= (p.Thr1507=)
c.4583C= (p.Thr1528=)
n.631C=
c.3995C= (p.Thr1332=)
c.4127C= (p.Thr1376=)
c.3947C= (p.Thr1316=)
c.3884C= (p.Thr1295=)
c.3728C= (p.Thr1243=)
c.3659C= (p.Thr1220=)
6g.33164874G>TCA363617454COL11A2n.647C>A
c.4841C>A (p.Thr1614Lys)
c.4520C>A (p.Thr1507Lys)
c.4583C>A (p.Thr1528Lys)
n.631C>A
c.3995C>A (p.Thr1332Lys)
c.4127C>A (p.Thr1376Lys)
c.3947C>A (p.Thr1316Lys)
c.3884C>A (p.Thr1295Lys)
c.3728C>A (p.Thr1243Lys)
c.3659C>A (p.Thr1220Lys)
 gnomAD v4
6g.33164875T>ACA363617455COL11A2n.646A>T
c.4840A>T (p.Thr1614Ser)
c.4519A>T (p.Thr1507Ser)
c.4582A>T (p.Thr1528Ser)
n.630A>T
c.3994A>T (p.Thr1332Ser)
c.4126A>T (p.Thr1376Ser)
c.3946A>T (p.Thr1316Ser)
c.3883A>T (p.Thr1295Ser)
c.3727A>T (p.Thr1243Ser)
c.3658A>T (p.Thr1220Ser)
6g.33164875T>CCA363617456COL11A2n.646A>G
c.4840A>G (p.Thr1614Ala)
c.4519A>G (p.Thr1507Ala)
c.4582A>G (p.Thr1528Ala)
n.630A>G
c.3994A>G (p.Thr1332Ala)
c.4126A>G (p.Thr1376Ala)
c.3946A>G (p.Thr1316Ala)
c.3883A>G (p.Thr1295Ala)
c.3727A>G (p.Thr1243Ala)
c.3658A>G (p.Thr1220Ala)
 gnomAD v4
6g.33164875T>GCA3749990COL11A2n.646A>C
c.4840A>C (p.Thr1614Pro)
c.4519A>C (p.Thr1507Pro)
c.4582A>C (p.Thr1528Pro)
n.630A>C
c.3994A>C (p.Thr1332Pro)
c.4126A>C (p.Thr1376Pro)
c.3946A>C (p.Thr1316Pro)
c.3883A>C (p.Thr1295Pro)
c.3727A>C (p.Thr1243Pro)
c.3658A>C (p.Thr1220Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164875T=CA1619890454COL11A2n.646A=
c.4840A= (p.Thr1614=)
c.4519A= (p.Thr1507=)
c.4582A= (p.Thr1528=)
n.630A=
c.3994A= (p.Thr1332=)
c.4126A= (p.Thr1376=)
c.3946A= (p.Thr1316=)
c.3883A= (p.Thr1295=)
c.3727A= (p.Thr1243=)
c.3658A= (p.Thr1220=)
6g.33164876C>ACA449867267COL11A2n.645G>T
c.4839G>T (p.Val1613=)
c.4518G>T (p.Val1506=)
c.4581G>T (p.Val1527=)
n.629G>T
c.3993G>T (p.Val1331=)
c.4125G>T (p.Val1375=)
c.3945G>T (p.Val1315=)
c.3882G>T (p.Val1294=)
c.3726G>T (p.Val1242=)
c.3657G>T (p.Val1219=)
 gnomAD v4
6g.33164876C>GCA449867268COL11A2n.645G>C
c.4839G>C (p.Val1613=)
c.4518G>C (p.Val1506=)
c.4581G>C (p.Val1527=)
n.629G>C
c.3993G>C (p.Val1331=)
c.4125G>C (p.Val1375=)
c.3945G>C (p.Val1315=)
c.3882G>C (p.Val1294=)
c.3726G>C (p.Val1242=)
c.3657G>C (p.Val1219=)
6g.33164876C>TCA449867269COL11A2n.645G>A
c.4839G>A (p.Val1613=)
c.4518G>A (p.Val1506=)
c.4581G>A (p.Val1527=)
n.629G>A
c.3993G>A (p.Val1331=)
c.4125G>A (p.Val1375=)
c.3945G>A (p.Val1315=)
c.3882G>A (p.Val1294=)
c.3726G>A (p.Val1242=)
c.3657G>A (p.Val1219=)
6g.33164880_33164881delCA2678226911COL11A2n.644_645del
c.4838_4839del (p.Val1613AspfsTer3)
c.4517_4518del (p.Val1506AspfsTer3)
c.4580_4581del (p.Val1527AspfsTer3)
n.628_629del
c.3992_3993del (p.Val1331AspfsTer3)
c.4124_4125del (p.Val1375AspfsTer3)
c.3944_3945del (p.Val1315AspfsTer3)
c.3881_3882del (p.Val1294AspfsTer3)
c.3725_3726del (p.Val1242AspfsTer3)
c.3656_3657del (p.Val1219AspfsTer3)
 gnomAD v4
6g.33164877A>CCA363617457COL11A2n.644T>G
c.4838T>G (p.Val1613Gly)
c.4517T>G (p.Val1506Gly)
c.4580T>G (p.Val1527Gly)
n.628T>G
c.3992T>G (p.Val1331Gly)
c.4124T>G (p.Val1375Gly)
c.3944T>G (p.Val1315Gly)
c.3881T>G (p.Val1294Gly)
c.3725T>G (p.Val1242Gly)
c.3656T>G (p.Val1219Gly)
6g.33164877A>GCA363617458COL11A2n.644T>C
c.4838T>C (p.Val1613Ala)
c.4517T>C (p.Val1506Ala)
c.4580T>C (p.Val1527Ala)
n.628T>C
c.3992T>C (p.Val1331Ala)
c.4124T>C (p.Val1375Ala)
c.3944T>C (p.Val1315Ala)
c.3881T>C (p.Val1294Ala)
c.3725T>C (p.Val1242Ala)
c.3656T>C (p.Val1219Ala)
6g.33164877A>TCA363617459COL11A2n.644T>A
c.4838T>A (p.Val1613Glu)
c.4517T>A (p.Val1506Glu)
c.4580T>A (p.Val1527Glu)
n.628T>A
c.3992T>A (p.Val1331Glu)
c.4124T>A (p.Val1375Glu)
c.3944T>A (p.Val1315Glu)
c.3881T>A (p.Val1294Glu)
c.3725T>A (p.Val1242Glu)
c.3656T>A (p.Val1219Glu)
6g.33164878C>ACA363617460COL11A2n.643G>T
c.4837G>T (p.Val1613Leu)
c.4516G>T (p.Val1506Leu)
c.4579G>T (p.Val1527Leu)
n.627G>T
c.3991G>T (p.Val1331Leu)
c.4123G>T (p.Val1375Leu)
c.3943G>T (p.Val1315Leu)
c.3880G>T (p.Val1294Leu)
c.3724G>T (p.Val1242Leu)
c.3655G>T (p.Val1219Leu)
 ClinVar dbSNP gnomAD v4
6g.33164878C=CA1619890459COL11A2n.643G=
c.4837G= (p.Val1613=)
c.4516G= (p.Val1506=)
c.4579G= (p.Val1527=)
n.627G=
c.3991G= (p.Val1331=)
c.4123G= (p.Val1375=)
c.3943G= (p.Val1315=)
c.3880G= (p.Val1294=)
c.3724G= (p.Val1242=)
c.3655G= (p.Val1219=)
6g.33164878C>GCA363617462COL11A2n.643G>C
c.4837G>C (p.Val1613Leu)
c.4516G>C (p.Val1506Leu)
c.4579G>C (p.Val1527Leu)
n.627G>C
c.3991G>C (p.Val1331Leu)
c.4123G>C (p.Val1375Leu)
c.3943G>C (p.Val1315Leu)
c.3880G>C (p.Val1294Leu)
c.3724G>C (p.Val1242Leu)
c.3655G>C (p.Val1219Leu)
6g.33164878C>TCA363617461COL11A2n.643G>A
c.4837G>A (p.Val1613Met)
c.4516G>A (p.Val1506Met)
c.4579G>A (p.Val1527Met)
n.627G>A
c.3991G>A (p.Val1331Met)
c.4123G>A (p.Val1375Met)
c.3943G>A (p.Val1315Met)
c.3880G>A (p.Val1294Met)
c.3724G>A (p.Val1242Met)
c.3655G>A (p.Val1219Met)
 gnomAD v4
6g.33164879A>CCA363617464COL11A2n.642T>G
c.4836T>G (p.Cys1612Trp)
c.4515T>G (p.Cys1505Trp)
c.4578T>G (p.Cys1526Trp)
n.626T>G
c.3990T>G (p.Cys1330Trp)
c.4122T>G (p.Cys1374Trp)
c.3942T>G (p.Cys1314Trp)
c.3879T>G (p.Cys1293Trp)
c.3723T>G (p.Cys1241Trp)
c.3654T>G (p.Cys1218Trp)
6g.33164879A>GCA449867272COL11A2n.642T>C
c.4836T>C (p.Cys1612=)
c.4515T>C (p.Cys1505=)
c.4578T>C (p.Cys1526=)
n.626T>C
c.3990T>C (p.Cys1330=)
c.4122T>C (p.Cys1374=)
c.3942T>C (p.Cys1314=)
c.3879T>C (p.Cys1293=)
c.3723T>C (p.Cys1241=)
c.3654T>C (p.Cys1218=)
 gnomAD v4
6g.33164879A>TCA363617466COL11A2n.642T>A
c.4836T>A (p.Cys1612Ter)
c.4515T>A (p.Cys1505Ter)
c.4578T>A (p.Cys1526Ter)
n.626T>A
c.3990T>A (p.Cys1330Ter)
c.4122T>A (p.Cys1374Ter)
c.3942T>A (p.Cys1314Ter)
c.3879T>A (p.Cys1293Ter)
c.3723T>A (p.Cys1241Ter)
c.3654T>A (p.Cys1218Ter)
 gnomAD v4
6g.33164880C>ACA363617468COL11A2n.641G>T
c.4835G>T (p.Cys1612Phe)
c.4514G>T (p.Cys1505Phe)
c.4577G>T (p.Cys1526Phe)
n.625G>T
c.3989G>T (p.Cys1330Phe)
c.4121G>T (p.Cys1374Phe)
c.3941G>T (p.Cys1314Phe)
c.3878G>T (p.Cys1293Phe)
c.3722G>T (p.Cys1241Phe)
c.3653G>T (p.Cys1218Phe)
 gnomAD v4
6g.33164880C=CA1619890464COL11A2n.641G=
c.4835G= (p.Cys1612=)
c.4514G= (p.Cys1505=)
c.4577G= (p.Cys1526=)
n.625G=
c.3989G= (p.Cys1330=)
c.4121G= (p.Cys1374=)
c.3941G= (p.Cys1314=)
c.3878G= (p.Cys1293=)
c.3722G= (p.Cys1241=)
c.3653G= (p.Cys1218=)
6g.33164880C>GCA363617470COL11A2n.641G>C
c.4835G>C (p.Cys1612Ser)
c.4514G>C (p.Cys1505Ser)
c.4577G>C (p.Cys1526Ser)
n.625G>C
c.3989G>C (p.Cys1330Ser)
c.4121G>C (p.Cys1374Ser)
c.3941G>C (p.Cys1314Ser)
c.3878G>C (p.Cys1293Ser)
c.3722G>C (p.Cys1241Ser)
c.3653G>C (p.Cys1218Ser)
6g.33164880C>TCA363617472COL11A2n.641G>A
c.4835G>A (p.Cys1612Tyr)
c.4514G>A (p.Cys1505Tyr)
c.4577G>A (p.Cys1526Tyr)
n.625G>A
c.3989G>A (p.Cys1330Tyr)
c.4121G>A (p.Cys1374Tyr)
c.3941G>A (p.Cys1314Tyr)
c.3878G>A (p.Cys1293Tyr)
c.3722G>A (p.Cys1241Tyr)
c.3653G>A (p.Cys1218Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.33164881A>CCA363617474COL11A2n.640T>G
c.4834T>G (p.Cys1612Gly)
c.4513T>G (p.Cys1505Gly)
c.4576T>G (p.Cys1526Gly)
n.624T>G
c.3988T>G (p.Cys1330Gly)
c.4120T>G (p.Cys1374Gly)
c.3940T>G (p.Cys1314Gly)
c.3877T>G (p.Cys1293Gly)
c.3721T>G (p.Cys1241Gly)
c.3652T>G (p.Cys1218Gly)
 gnomAD v4
6g.33164881A>GCA363617476COL11A2n.640T>C
c.4834T>C (p.Cys1612Arg)
c.4513T>C (p.Cys1505Arg)
c.4576T>C (p.Cys1526Arg)
n.624T>C
c.3988T>C (p.Cys1330Arg)
c.4120T>C (p.Cys1374Arg)
c.3940T>C (p.Cys1314Arg)
c.3877T>C (p.Cys1293Arg)
c.3721T>C (p.Cys1241Arg)
c.3652T>C (p.Cys1218Arg)
 gnomAD v4 COSMIC
6g.33164881A>TCA363617478COL11A2n.640T>A
c.4834T>A (p.Cys1612Ser)
c.4513T>A (p.Cys1505Ser)
c.4576T>A (p.Cys1526Ser)
n.624T>A
c.3988T>A (p.Cys1330Ser)
c.4120T>A (p.Cys1374Ser)
c.3940T>A (p.Cys1314Ser)
c.3877T>A (p.Cys1293Ser)
c.3721T>A (p.Cys1241Ser)
c.3652T>A (p.Cys1218Ser)
 gnomAD v4
6g.33164882G>ACA449867278COL11A2n.639C>T
c.4833C>T (p.Thr1611=)
c.4512C>T (p.Thr1504=)
c.4575C>T (p.Thr1525=)
n.623C>T
c.3987C>T (p.Thr1329=)
c.4119C>T (p.Thr1373=)
c.3939C>T (p.Thr1313=)
c.3876C>T (p.Thr1292=)
c.3720C>T (p.Thr1240=)
c.3651C>T (p.Thr1217=)
 ClinVar gnomAD v4
6g.33164882G>CCA449867277COL11A2n.639C>G
c.4833C>G (p.Thr1611=)
c.4512C>G (p.Thr1504=)
c.4575C>G (p.Thr1525=)
n.623C>G
c.3987C>G (p.Thr1329=)
c.4119C>G (p.Thr1373=)
c.3939C>G (p.Thr1313=)
c.3876C>G (p.Thr1292=)
c.3720C>G (p.Thr1240=)
c.3651C>G (p.Thr1217=)
6g.33164882G=CA1619890467COL11A2n.639C=
c.4833C= (p.Thr1611=)
c.4512C= (p.Thr1504=)
c.4575C= (p.Thr1525=)
n.623C=
c.3987C= (p.Thr1329=)
c.4119C= (p.Thr1373=)
c.3939C= (p.Thr1313=)
c.3876C= (p.Thr1292=)
c.3720C= (p.Thr1240=)
c.3651C= (p.Thr1217=)
6g.33164882G>TCA3749991COL11A2n.639C>A
c.4833C>A (p.Thr1611=)
c.4512C>A (p.Thr1504=)
c.4575C>A (p.Thr1525=)
n.623C>A
c.3987C>A (p.Thr1329=)
c.4119C>A (p.Thr1373=)
c.3939C>A (p.Thr1313=)
c.3876C>A (p.Thr1292=)
c.3720C>A (p.Thr1240=)
c.3651C>A (p.Thr1217=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164883G>ACA363617486COL11A2n.638C>T
c.4832C>T (p.Thr1611Ile)
c.4511C>T (p.Thr1504Ile)
c.4574C>T (p.Thr1525Ile)
n.622C>T
c.3986C>T (p.Thr1329Ile)
c.4118C>T (p.Thr1373Ile)
c.3938C>T (p.Thr1313Ile)
c.3875C>T (p.Thr1292Ile)
c.3719C>T (p.Thr1240Ile)
c.3650C>T (p.Thr1217Ile)
6g.33164883G>CCA363617484COL11A2n.638C>G
c.4832C>G (p.Thr1611Ser)
c.4511C>G (p.Thr1504Ser)
c.4574C>G (p.Thr1525Ser)
n.622C>G
c.3986C>G (p.Thr1329Ser)
c.4118C>G (p.Thr1373Ser)
c.3938C>G (p.Thr1313Ser)
c.3875C>G (p.Thr1292Ser)
c.3719C>G (p.Thr1240Ser)
c.3650C>G (p.Thr1217Ser)
6g.33164883G=CA1619890470COL11A2n.638C=
c.4832C= (p.Thr1611=)
c.4511C= (p.Thr1504=)
c.4574C= (p.Thr1525=)
n.622C=
c.3986C= (p.Thr1329=)
c.4118C= (p.Thr1373=)
c.3938C= (p.Thr1313=)
c.3875C= (p.Thr1292=)
c.3719C= (p.Thr1240=)
c.3650C= (p.Thr1217=)
6g.33164883G>TCA363617482COL11A2n.638C>A
c.4832C>A (p.Thr1611Asn)
c.4511C>A (p.Thr1504Asn)
c.4574C>A (p.Thr1525Asn)
n.622C>A
c.3986C>A (p.Thr1329Asn)
c.4118C>A (p.Thr1373Asn)
c.3938C>A (p.Thr1313Asn)
c.3875C>A (p.Thr1292Asn)
c.3719C>A (p.Thr1240Asn)
c.3650C>A (p.Thr1217Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164884T>ACA363617488COL11A2n.637A>T
c.4831A>T (p.Thr1611Ser)
c.4510A>T (p.Thr1504Ser)
c.4573A>T (p.Thr1525Ser)
n.621A>T
c.3985A>T (p.Thr1329Ser)
c.4117A>T (p.Thr1373Ser)
c.3937A>T (p.Thr1313Ser)
c.3874A>T (p.Thr1292Ser)
c.3718A>T (p.Thr1240Ser)
c.3649A>T (p.Thr1217Ser)
 ClinVar dbSNP gnomAD v4
6g.33164884T>CCA363617490COL11A2n.637A>G
c.4831A>G (p.Thr1611Ala)
c.4510A>G (p.Thr1504Ala)
c.4573A>G (p.Thr1525Ala)
n.621A>G
c.3985A>G (p.Thr1329Ala)
c.4117A>G (p.Thr1373Ala)
c.3937A>G (p.Thr1313Ala)
c.3874A>G (p.Thr1292Ala)
c.3718A>G (p.Thr1240Ala)
c.3649A>G (p.Thr1217Ala)
 gnomAD v4
6g.33164884T>GCA363617492COL11A2n.637A>C
c.4831A>C (p.Thr1611Pro)
c.4510A>C (p.Thr1504Pro)
c.4573A>C (p.Thr1525Pro)
n.621A>C
c.3985A>C (p.Thr1329Pro)
c.4117A>C (p.Thr1373Pro)
c.3937A>C (p.Thr1313Pro)
c.3874A>C (p.Thr1292Pro)
c.3718A>C (p.Thr1240Pro)
c.3649A>C (p.Thr1217Pro)
6g.33164885C>ACA363617494COL11A2n.636G>T
c.4830G>T (p.Glu1610Asp)
c.4509G>T (p.Glu1503Asp)
c.4572G>T (p.Glu1524Asp)
n.620G>T
c.3984G>T (p.Glu1328Asp)
c.4116G>T (p.Glu1372Asp)
c.3936G>T (p.Glu1312Asp)
c.3873G>T (p.Glu1291Asp)
c.3717G>T (p.Glu1239Asp)
c.3648G>T (p.Glu1216Asp)
 gnomAD v4
6g.33164885C=CA1619890473COL11A2n.636G=
c.4830G= (p.Glu1610=)
c.4509G= (p.Glu1503=)
c.4572G= (p.Glu1524=)
n.620G=
c.3984G= (p.Glu1328=)
c.4116G= (p.Glu1372=)
c.3936G= (p.Glu1312=)
c.3873G= (p.Glu1291=)
c.3717G= (p.Glu1239=)
c.3648G= (p.Glu1216=)
6g.33164885C>GCA363617496COL11A2n.636G>C
c.4830G>C (p.Glu1610Asp)
c.4509G>C (p.Glu1503Asp)
c.4572G>C (p.Glu1524Asp)
n.620G>C
c.3984G>C (p.Glu1328Asp)
c.4116G>C (p.Glu1372Asp)
c.3936G>C (p.Glu1312Asp)
c.3873G>C (p.Glu1291Asp)
c.3717G>C (p.Glu1239Asp)
c.3648G>C (p.Glu1216Asp)
 dbSNP
6g.33164885C>TCA449867283COL11A2n.636G>A
c.4830G>A (p.Glu1610=)
c.4509G>A (p.Glu1503=)
c.4572G>A (p.Glu1524=)
n.620G>A
c.3984G>A (p.Glu1328=)
c.4116G>A (p.Glu1372=)
c.3936G>A (p.Glu1312=)
c.3873G>A (p.Glu1291=)
c.3717G>A (p.Glu1239=)
c.3648G>A (p.Glu1216=)
 dbSNP gnomAD v2
6g.33164886T>ACA363617498COL11A2n.635A>T
c.4829A>T (p.Glu1610Val)
c.4508A>T (p.Glu1503Val)
c.4571A>T (p.Glu1524Val)
n.619A>T
c.3983A>T (p.Glu1328Val)
c.4115A>T (p.Glu1372Val)
c.3935A>T (p.Glu1312Val)
c.3872A>T (p.Glu1291Val)
c.3716A>T (p.Glu1239Val)
c.3647A>T (p.Glu1216Val)
 gnomAD v4
6g.33164886T>CCA363617500COL11A2n.635A>G
c.4829A>G (p.Glu1610Gly)
c.4508A>G (p.Glu1503Gly)
c.4571A>G (p.Glu1524Gly)
n.619A>G
c.3983A>G (p.Glu1328Gly)
c.4115A>G (p.Glu1372Gly)
c.3935A>G (p.Glu1312Gly)
c.3872A>G (p.Glu1291Gly)
c.3716A>G (p.Glu1239Gly)
c.3647A>G (p.Glu1216Gly)
6g.33164886T>GCA363617502COL11A2n.635A>C
c.4829A>C (p.Glu1610Ala)
c.4508A>C (p.Glu1503Ala)
c.4571A>C (p.Glu1524Ala)
n.619A>C
c.3983A>C (p.Glu1328Ala)
c.4115A>C (p.Glu1372Ala)
c.3935A>C (p.Glu1312Ala)
c.3872A>C (p.Glu1291Ala)
c.3716A>C (p.Glu1239Ala)
c.3647A>C (p.Glu1216Ala)
6g.33164887C>ACA363617506COL11A2n.634G>T
c.4828G>T (p.Glu1610Ter)
c.4507G>T (p.Glu1503Ter)
c.4570G>T (p.Glu1524Ter)
n.618G>T
c.3982G>T (p.Glu1328Ter)
c.4114G>T (p.Glu1372Ter)
c.3934G>T (p.Glu1312Ter)
c.3871G>T (p.Glu1291Ter)
c.3715G>T (p.Glu1239Ter)
c.3646G>T (p.Glu1216Ter)
 gnomAD v4
6g.33164887C>GCA363617507COL11A2n.634G>C
c.4828G>C (p.Glu1610Gln)
c.4507G>C (p.Glu1503Gln)
c.4570G>C (p.Glu1524Gln)
n.618G>C
c.3982G>C (p.Glu1328Gln)
c.4114G>C (p.Glu1372Gln)
c.3934G>C (p.Glu1312Gln)
c.3871G>C (p.Glu1291Gln)
c.3715G>C (p.Glu1239Gln)
c.3646G>C (p.Glu1216Gln)
6g.33164887C>TCA363617510COL11A2n.634G>A
c.4828G>A (p.Glu1610Lys)
c.4507G>A (p.Glu1503Lys)
c.4570G>A (p.Glu1524Lys)
n.618G>A
c.3982G>A (p.Glu1328Lys)
c.4114G>A (p.Glu1372Lys)
c.3934G>A (p.Glu1312Lys)
c.3871G>A (p.Glu1291Lys)
c.3715G>A (p.Glu1239Lys)
c.3646G>A (p.Glu1216Lys)
 gnomAD v4
6g.33164888A=CA1619890477COL11A2n.633T=
c.4827T= (p.Gly1609=)
c.4506T= (p.Gly1502=)
c.4569T= (p.Gly1523=)
n.617T=
c.3981T= (p.Gly1327=)
c.4113T= (p.Gly1371=)
c.3933T= (p.Gly1311=)
c.3870T= (p.Gly1290=)
c.3714T= (p.Gly1238=)
c.3645T= (p.Gly1215=)
6g.33164888A>CCA449867284COL11A2n.633T>G
c.4827T>G (p.Gly1609=)
c.4506T>G (p.Gly1502=)
c.4569T>G (p.Gly1523=)
n.617T>G
c.3981T>G (p.Gly1327=)
c.4113T>G (p.Gly1371=)
c.3933T>G (p.Gly1311=)
c.3870T>G (p.Gly1290=)
c.3714T>G (p.Gly1238=)
c.3645T>G (p.Gly1215=)
6g.33164888A>GCA449867285COL11A2n.633T>C
c.4827T>C (p.Gly1609=)
c.4506T>C (p.Gly1502=)
c.4569T>C (p.Gly1523=)
n.617T>C
c.3981T>C (p.Gly1327=)
c.4113T>C (p.Gly1371=)
c.3933T>C (p.Gly1311=)
c.3870T>C (p.Gly1290=)
c.3714T>C (p.Gly1238=)
c.3645T>C (p.Gly1215=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33164888A>TCA449867286COL11A2n.633T>A
c.4827T>A (p.Gly1609=)
c.4506T>A (p.Gly1502=)
c.4569T>A (p.Gly1523=)
n.617T>A
c.3981T>A (p.Gly1327=)
c.4113T>A (p.Gly1371=)
c.3933T>A (p.Gly1311=)
c.3870T>A (p.Gly1290=)
c.3714T>A (p.Gly1238=)
c.3645T>A (p.Gly1215=)
6g.33164888dupCA2711428177COL11A2n.633dup
c.4827dup (p.Glu1610Ter)
c.4506dup (p.Glu1503Ter)
c.4569dup (p.Glu1524Ter)
n.617dup
c.3981dup (p.Glu1328Ter)
c.4113dup (p.Glu1372Ter)
c.3933dup (p.Glu1312Ter)
c.3870dup (p.Glu1291Ter)
c.3714dup (p.Glu1239Ter)
c.3645dup (p.Glu1216Ter)
 dbSNP
6g.33164889C>ACA363617515COL11A2n.632G>T
c.4826G>T (p.Gly1609Val)
c.4505G>T (p.Gly1502Val)
c.4568G>T (p.Gly1523Val)
n.616G>T
c.3980G>T (p.Gly1327Val)
c.4112G>T (p.Gly1371Val)
c.3932G>T (p.Gly1311Val)
c.3869G>T (p.Gly1290Val)
c.3713G>T (p.Gly1238Val)
c.3644G>T (p.Gly1215Val)
 gnomAD v4
6g.33164889C=CA1619890482COL11A2n.632G=
c.4826G= (p.Gly1609=)
c.4505G= (p.Gly1502=)
c.4568G= (p.Gly1523=)
n.616G=
c.3980G= (p.Gly1327=)
c.4112G= (p.Gly1371=)
c.3932G= (p.Gly1311=)
c.3869G= (p.Gly1290=)
c.3713G= (p.Gly1238=)
c.3644G= (p.Gly1215=)
6g.33164889C>GCA363617512COL11A2n.632G>C
c.4826G>C (p.Gly1609Ala)
c.4505G>C (p.Gly1502Ala)
c.4568G>C (p.Gly1523Ala)
n.616G>C
c.3980G>C (p.Gly1327Ala)
c.4112G>C (p.Gly1371Ala)
c.3932G>C (p.Gly1311Ala)
c.3869G>C (p.Gly1290Ala)
c.3713G>C (p.Gly1238Ala)
c.3644G>C (p.Gly1215Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164889C>TCA3749992COL11A2n.632G>A
c.4826G>A (p.Gly1609Asp)
c.4505G>A (p.Gly1502Asp)
c.4568G>A (p.Gly1523Asp)
n.616G>A
c.3980G>A (p.Gly1327Asp)
c.4112G>A (p.Gly1371Asp)
c.3932G>A (p.Gly1311Asp)
c.3869G>A (p.Gly1290Asp)
c.3713G>A (p.Gly1238Asp)
c.3644G>A (p.Gly1215Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164893delCA2678226912COL11A2n.632del
c.4826del (p.Gly1609ValfsTer5)
c.4505del (p.Gly1502ValfsTer5)
c.4568del (p.Gly1523ValfsTer5)
n.616del
c.3980del (p.Gly1327ValfsTer5)
c.4112del (p.Gly1371ValfsTer5)
c.3932del (p.Gly1311ValfsTer5)
c.3869del (p.Gly1290ValfsTer5)
c.3713del (p.Gly1238ValfsTer5)
c.3644del (p.Gly1215ValfsTer5)
 gnomAD v4
6g.33164890C>ACA363617517COL11A2n.631G>T
c.4825G>T (p.Gly1609Cys)
c.4504G>T (p.Gly1502Cys)
c.4567G>T (p.Gly1523Cys)
n.615G>T
c.3979G>T (p.Gly1327Cys)
c.4111G>T (p.Gly1371Cys)
c.3931G>T (p.Gly1311Cys)
c.3868G>T (p.Gly1290Cys)
c.3712G>T (p.Gly1238Cys)
c.3643G>T (p.Gly1215Cys)
 gnomAD v4
6g.33164890C=CA1619890486COL11A2n.631G=
c.4825G= (p.Gly1609=)
c.4504G= (p.Gly1502=)
c.4567G= (p.Gly1523=)
n.615G=
c.3979G= (p.Gly1327=)
c.4111G= (p.Gly1371=)
c.3931G= (p.Gly1311=)
c.3868G= (p.Gly1290=)
c.3712G= (p.Gly1238=)
c.3643G= (p.Gly1215=)
6g.33164890C>GCA363617518COL11A2n.631G>C
c.4825G>C (p.Gly1609Arg)
c.4504G>C (p.Gly1502Arg)
c.4567G>C (p.Gly1523Arg)
n.615G>C
c.3979G>C (p.Gly1327Arg)
c.4111G>C (p.Gly1371Arg)
c.3931G>C (p.Gly1311Arg)
c.3868G>C (p.Gly1290Arg)
c.3712G>C (p.Gly1238Arg)
c.3643G>C (p.Gly1215Arg)
 gnomAD v4
6g.33164890C>TCA363617520COL11A2n.631G>A
c.4825G>A (p.Gly1609Ser)
c.4504G>A (p.Gly1502Ser)
c.4567G>A (p.Gly1523Ser)
n.615G>A
c.3979G>A (p.Gly1327Ser)
c.4111G>A (p.Gly1371Ser)
c.3931G>A (p.Gly1311Ser)
c.3868G>A (p.Gly1290Ser)
c.3712G>A (p.Gly1238Ser)
c.3643G>A (p.Gly1215Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.33164891C>ACA449867287COL11A2n.630G>T
c.4824G>T (p.Gly1608=)
c.4503G>T (p.Gly1501=)
c.4566G>T (p.Gly1522=)
n.614G>T
c.3978G>T (p.Gly1326=)
c.4110G>T (p.Gly1370=)
c.3930G>T (p.Gly1310=)
c.3867G>T (p.Gly1289=)
c.3711G>T (p.Gly1237=)
c.3642G>T (p.Gly1214=)
 gnomAD v4
6g.33164891C=CA1619890490COL11A2n.630G=
c.4824G= (p.Gly1608=)
c.4503G= (p.Gly1501=)
c.4566G= (p.Gly1522=)
n.614G=
c.3978G= (p.Gly1326=)
c.4110G= (p.Gly1370=)
c.3930G= (p.Gly1310=)
c.3867G= (p.Gly1289=)
c.3711G= (p.Gly1237=)
c.3642G= (p.Gly1214=)
6g.33164891C>GCA449867288COL11A2n.630G>C
c.4824G>C (p.Gly1608=)
c.4503G>C (p.Gly1501=)
c.4566G>C (p.Gly1522=)
n.614G>C
c.3978G>C (p.Gly1326=)
c.4110G>C (p.Gly1370=)
c.3930G>C (p.Gly1310=)
c.3867G>C (p.Gly1289=)
c.3711G>C (p.Gly1237=)
c.3642G>C (p.Gly1214=)
 ClinVar
6g.33164891C>TCA449867289COL11A2n.630G>A
c.4824G>A (p.Gly1608=)
c.4503G>A (p.Gly1501=)
c.4566G>A (p.Gly1522=)
n.614G>A
c.3978G>A (p.Gly1326=)
c.4110G>A (p.Gly1370=)
c.3930G>A (p.Gly1310=)
c.3867G>A (p.Gly1289=)
c.3711G>A (p.Gly1237=)
c.3642G>A (p.Gly1214=)
 dbSNP gnomAD v2 gnomAD v4
6g.33164892C>ACA363617522COL11A2n.629G>T
c.4823G>T (p.Gly1608Val)
c.4502G>T (p.Gly1501Val)
c.4565G>T (p.Gly1522Val)
n.613G>T
c.3977G>T (p.Gly1326Val)
c.4109G>T (p.Gly1370Val)
c.3929G>T (p.Gly1310Val)
c.3866G>T (p.Gly1289Val)
c.3710G>T (p.Gly1237Val)
c.3641G>T (p.Gly1214Val)
 gnomAD v4
6g.33164892C=CA1619890492COL11A2n.629G=
c.4823G= (p.Gly1608=)
c.4502G= (p.Gly1501=)
c.4565G= (p.Gly1522=)
n.613G=
c.3977G= (p.Gly1326=)
c.4109G= (p.Gly1370=)
c.3929G= (p.Gly1310=)
c.3866G= (p.Gly1289=)
c.3710G= (p.Gly1237=)
c.3641G= (p.Gly1214=)
6g.33164892C>GCA363617524COL11A2n.629G>C
c.4823G>C (p.Gly1608Ala)
c.4502G>C (p.Gly1501Ala)
c.4565G>C (p.Gly1522Ala)
n.613G>C
c.3977G>C (p.Gly1326Ala)
c.4109G>C (p.Gly1370Ala)
c.3929G>C (p.Gly1310Ala)
c.3866G>C (p.Gly1289Ala)
c.3710G>C (p.Gly1237Ala)
c.3641G>C (p.Gly1214Ala)
6g.33164892C>TCA363617526COL11A2n.629G>A
c.4823G>A (p.Gly1608Glu)
c.4502G>A (p.Gly1501Glu)
c.4565G>A (p.Gly1522Glu)
n.613G>A
c.3977G>A (p.Gly1326Glu)
c.4109G>A (p.Gly1370Glu)
c.3929G>A (p.Gly1310Glu)
c.3866G>A (p.Gly1289Glu)
c.3710G>A (p.Gly1237Glu)
c.3641G>A (p.Gly1214Glu)
 dbSNP
6g.33164893C>ACA137061735COL11A2n.628G>T
c.4822G>T (p.Gly1608Trp)
c.4501G>T (p.Gly1501Trp)
c.4564G>T (p.Gly1522Trp)
n.612G>T
c.3976G>T (p.Gly1326Trp)
c.4108G>T (p.Gly1370Trp)
c.3928G>T (p.Gly1310Trp)
c.3865G>T (p.Gly1289Trp)
c.3709G>T (p.Gly1237Trp)
c.3640G>T (p.Gly1214Trp)
 dbSNP gnomAD v4
6g.33164893C=CA1619890499COL11A2n.628G=
c.4822G= (p.Gly1608=)
c.4501G= (p.Gly1501=)
c.4564G= (p.Gly1522=)
n.612G=
c.3976G= (p.Gly1326=)
c.4108G= (p.Gly1370=)
c.3928G= (p.Gly1310=)
c.3865G= (p.Gly1289=)
c.3709G= (p.Gly1237=)
c.3640G= (p.Gly1214=)
6g.33164893C>GCA363617529COL11A2n.628G>C
c.4822G>C (p.Gly1608Arg)
c.4501G>C (p.Gly1501Arg)
c.4564G>C (p.Gly1522Arg)
n.612G>C
c.3976G>C (p.Gly1326Arg)
c.4108G>C (p.Gly1370Arg)
c.3928G>C (p.Gly1310Arg)
c.3865G>C (p.Gly1289Arg)
c.3709G>C (p.Gly1237Arg)
c.3640G>C (p.Gly1214Arg)
6g.33164893C>TCA363617531COL11A2n.628G>A
c.4822G>A (p.Gly1608Arg)
c.4501G>A (p.Gly1501Arg)
c.4564G>A (p.Gly1522Arg)
n.612G>A
c.3976G>A (p.Gly1326Arg)
c.4108G>A (p.Gly1370Arg)
c.3928G>A (p.Gly1310Arg)
c.3865G>A (p.Gly1289Arg)
c.3709G>A (p.Gly1237Arg)
c.3640G>A (p.Gly1214Arg)
 gnomAD v4
6g.33164894T>ACA449867290COL11A2n.627A>T
c.4821A>T (p.Ala1607=)
c.4500A>T (p.Ala1500=)
c.4563A>T (p.Ala1521=)
n.611A>T
c.3975A>T (p.Ala1325=)
c.4107A>T (p.Ala1369=)
c.3927A>T (p.Ala1309=)
c.3864A>T (p.Ala1288=)
c.3708A>T (p.Ala1236=)
c.3639A>T (p.Ala1213=)
6g.33164894T>CCA449867291COL11A2n.627A>G
c.4821A>G (p.Ala1607=)
c.4500A>G (p.Ala1500=)
c.4563A>G (p.Ala1521=)
n.611A>G
c.3975A>G (p.Ala1325=)
c.4107A>G (p.Ala1369=)
c.3927A>G (p.Ala1309=)
c.3864A>G (p.Ala1288=)
c.3708A>G (p.Ala1236=)
c.3639A>G (p.Ala1213=)
 ClinVar gnomAD v4
6g.33164894T>GCA3749993COL11A2n.627A>C
c.4821A>C (p.Ala1607=)
c.4500A>C (p.Ala1500=)
c.4563A>C (p.Ala1521=)
n.611A>C
c.3975A>C (p.Ala1325=)
c.4107A>C (p.Ala1369=)
c.3927A>C (p.Ala1309=)
c.3864A>C (p.Ala1288=)
c.3708A>C (p.Ala1236=)
c.3639A>C (p.Ala1213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164894T=CA1619890504COL11A2n.627A=
c.4821A= (p.Ala1607=)
c.4500A= (p.Ala1500=)
c.4563A= (p.Ala1521=)
n.611A=
c.3975A= (p.Ala1325=)
c.4107A= (p.Ala1369=)
c.3927A= (p.Ala1309=)
c.3864A= (p.Ala1288=)
c.3708A= (p.Ala1236=)
c.3639A= (p.Ala1213=)
6g.33164895G>ACA363617532COL11A2n.626C>T
c.4820C>T (p.Ala1607Val)
c.4499C>T (p.Ala1500Val)
c.4562C>T (p.Ala1521Val)
n.610C>T
c.3974C>T (p.Ala1325Val)
c.4106C>T (p.Ala1369Val)
c.3926C>T (p.Ala1309Val)
c.3863C>T (p.Ala1288Val)
c.3707C>T (p.Ala1236Val)
c.3638C>T (p.Ala1213Val)
 gnomAD v4
6g.33164895G>CCA363617534COL11A2n.626C>G
c.4820C>G (p.Ala1607Gly)
c.4499C>G (p.Ala1500Gly)
c.4562C>G (p.Ala1521Gly)
n.610C>G
c.3974C>G (p.Ala1325Gly)
c.4106C>G (p.Ala1369Gly)
c.3926C>G (p.Ala1309Gly)
c.3863C>G (p.Ala1288Gly)
c.3707C>G (p.Ala1236Gly)
c.3638C>G (p.Ala1213Gly)
6g.33164895G>TCA363617536COL11A2n.626C>A
c.4820C>A (p.Ala1607Glu)
c.4499C>A (p.Ala1500Glu)
c.4562C>A (p.Ala1521Glu)
n.610C>A
c.3974C>A (p.Ala1325Glu)
c.4106C>A (p.Ala1369Glu)
c.3926C>A (p.Ala1309Glu)
c.3863C>A (p.Ala1288Glu)
c.3707C>A (p.Ala1236Glu)
c.3638C>A (p.Ala1213Glu)
 gnomAD v4
6g.33164896C>ACA363617540COL11A2n.625G>T
c.4819G>T (p.Ala1607Ser)
c.4498G>T (p.Ala1500Ser)
c.4561G>T (p.Ala1521Ser)
n.609G>T
c.3973G>T (p.Ala1325Ser)
c.4105G>T (p.Ala1369Ser)
c.3925G>T (p.Ala1309Ser)
c.3862G>T (p.Ala1288Ser)
c.3706G>T (p.Ala1236Ser)
c.3637G>T (p.Ala1213Ser)
 gnomAD v4
6g.33164896C>GCA363617541COL11A2n.625G>C
c.4819G>C (p.Ala1607Pro)
c.4498G>C (p.Ala1500Pro)
c.4561G>C (p.Ala1521Pro)
n.609G>C
c.3973G>C (p.Ala1325Pro)
c.4105G>C (p.Ala1369Pro)
c.3925G>C (p.Ala1309Pro)
c.3862G>C (p.Ala1288Pro)
c.3706G>C (p.Ala1236Pro)
c.3637G>C (p.Ala1213Pro)
6g.33164896C>TCA363617538COL11A2n.625G>A
c.4819G>A (p.Ala1607Thr)
c.4498G>A (p.Ala1500Thr)
c.4561G>A (p.Ala1521Thr)
n.609G>A
c.3973G>A (p.Ala1325Thr)
c.4105G>A (p.Ala1369Thr)
c.3925G>A (p.Ala1309Thr)
c.3862G>A (p.Ala1288Thr)
c.3706G>A (p.Ala1236Thr)
c.3637G>A (p.Ala1213Thr)
 gnomAD v4 COSMIC
6g.33164897T>ACA449867292COL11A2n.624A>T
c.4818A>T (p.Thr1606=)
c.4497A>T (p.Thr1499=)
c.4560A>T (p.Thr1520=)
n.608A>T
c.3972A>T (p.Thr1324=)
c.4104A>T (p.Thr1368=)
c.3924A>T (p.Thr1308=)
c.3861A>T (p.Thr1287=)
c.3705A>T (p.Thr1235=)
c.3636A>T (p.Thr1212=)
6g.33164897T>CCA449867293COL11A2n.624A>G
c.4818A>G (p.Thr1606=)
c.4497A>G (p.Thr1499=)
c.4560A>G (p.Thr1520=)
n.608A>G
c.3972A>G (p.Thr1324=)
c.4104A>G (p.Thr1368=)
c.3924A>G (p.Thr1308=)
c.3861A>G (p.Thr1287=)
c.3705A>G (p.Thr1235=)
c.3636A>G (p.Thr1212=)
 gnomAD v4
6g.33164897T>GCA449867294COL11A2n.624A>C
c.4818A>C (p.Thr1606=)
c.4497A>C (p.Thr1499=)
c.4560A>C (p.Thr1520=)
n.608A>C
c.3972A>C (p.Thr1324=)
c.4104A>C (p.Thr1368=)
c.3924A>C (p.Thr1308=)
c.3861A>C (p.Thr1287=)
c.3705A>C (p.Thr1235=)
c.3636A>C (p.Thr1212=)
6g.33164898G>ACA363617545COL11A2n.623C>T
c.4817C>T (p.Thr1606Ile)
c.4496C>T (p.Thr1499Ile)
c.4559C>T (p.Thr1520Ile)
n.607C>T
c.3971C>T (p.Thr1324Ile)
c.4103C>T (p.Thr1368Ile)
c.3923C>T (p.Thr1308Ile)
c.3860C>T (p.Thr1287Ile)
c.3704C>T (p.Thr1235Ile)
c.3635C>T (p.Thr1212Ile)
 gnomAD v4
6g.33164898G>CCA363617542COL11A2n.623C>G
c.4817C>G (p.Thr1606Arg)
c.4496C>G (p.Thr1499Arg)
c.4559C>G (p.Thr1520Arg)
n.607C>G
c.3971C>G (p.Thr1324Arg)
c.4103C>G (p.Thr1368Arg)
c.3923C>G (p.Thr1308Arg)
c.3860C>G (p.Thr1287Arg)
c.3704C>G (p.Thr1235Arg)
c.3635C>G (p.Thr1212Arg)
6g.33164898G>TCA363617543COL11A2n.623C>A
c.4817C>A (p.Thr1606Lys)
c.4496C>A (p.Thr1499Lys)
c.4559C>A (p.Thr1520Lys)
n.607C>A
c.3971C>A (p.Thr1324Lys)
c.4103C>A (p.Thr1368Lys)
c.3923C>A (p.Thr1308Lys)
c.3860C>A (p.Thr1287Lys)
c.3704C>A (p.Thr1235Lys)
c.3635C>A (p.Thr1212Lys)
 gnomAD v4
6g.33164899T>ACA363617547COL11A2n.622A>T
c.4816A>T (p.Thr1606Ser)
c.4495A>T (p.Thr1499Ser)
c.4558A>T (p.Thr1520Ser)
n.606A>T
c.3970A>T (p.Thr1324Ser)
c.4102A>T (p.Thr1368Ser)
c.3922A>T (p.Thr1308Ser)
c.3859A>T (p.Thr1287Ser)
c.3703A>T (p.Thr1235Ser)
c.3634A>T (p.Thr1212Ser)
6g.33164899T>CCA363617549COL11A2n.622A>G
c.4816A>G (p.Thr1606Ala)
c.4495A>G (p.Thr1499Ala)
c.4558A>G (p.Thr1520Ala)
n.606A>G
c.3970A>G (p.Thr1324Ala)
c.4102A>G (p.Thr1368Ala)
c.3922A>G (p.Thr1308Ala)
c.3859A>G (p.Thr1287Ala)
c.3703A>G (p.Thr1235Ala)
c.3634A>G (p.Thr1212Ala)
 ClinVar gnomAD v4
6g.33164899T>GCA363617550COL11A2n.622A>C
c.4816A>C (p.Thr1606Pro)
c.4495A>C (p.Thr1499Pro)
c.4558A>C (p.Thr1520Pro)
n.606A>C
c.3970A>C (p.Thr1324Pro)
c.4102A>C (p.Thr1368Pro)
c.3922A>C (p.Thr1308Pro)
c.3859A>C (p.Thr1287Pro)
c.3703A>C (p.Thr1235Pro)
c.3634A>C (p.Thr1212Pro)
6g.33164900G>ACA449867295COL11A2n.621C>T
c.4815C>T (p.Phe1605=)
c.4494C>T (p.Phe1498=)
c.4557C>T (p.Phe1519=)
n.605C>T
c.3969C>T (p.Phe1323=)
c.4101C>T (p.Phe1367=)
c.3921C>T (p.Phe1307=)
c.3858C>T (p.Phe1286=)
c.3702C>T (p.Phe1234=)
c.3633C>T (p.Phe1211=)
 gnomAD v4
6g.33164900G>CCA363617552COL11A2n.621C>G
c.4815C>G (p.Phe1605Leu)
c.4494C>G (p.Phe1498Leu)
c.4557C>G (p.Phe1519Leu)
n.605C>G
c.3969C>G (p.Phe1323Leu)
c.4101C>G (p.Phe1367Leu)
c.3921C>G (p.Phe1307Leu)
c.3858C>G (p.Phe1286Leu)
c.3702C>G (p.Phe1234Leu)
c.3633C>G (p.Phe1211Leu)
6g.33164900G>TCA363617554COL11A2n.621C>A
c.4815C>A (p.Phe1605Leu)
c.4494C>A (p.Phe1498Leu)
c.4557C>A (p.Phe1519Leu)
n.605C>A
c.3969C>A (p.Phe1323Leu)
c.4101C>A (p.Phe1367Leu)
c.3921C>A (p.Phe1307Leu)
c.3858C>A (p.Phe1286Leu)
c.3702C>A (p.Phe1234Leu)
c.3633C>A (p.Phe1211Leu)
 gnomAD v4
6g.33164901A>CCA363617556COL11A2n.620T>G
c.4814T>G (p.Phe1605Cys)
c.4493T>G (p.Phe1498Cys)
c.4556T>G (p.Phe1519Cys)
n.604T>G
c.3968T>G (p.Phe1323Cys)
c.4100T>G (p.Phe1367Cys)
c.3920T>G (p.Phe1307Cys)
c.3857T>G (p.Phe1286Cys)
c.3701T>G (p.Phe1234Cys)
c.3632T>G (p.Phe1211Cys)
6g.33164901A>GCA363617558COL11A2n.620T>C
c.4814T>C (p.Phe1605Ser)
c.4493T>C (p.Phe1498Ser)
c.4556T>C (p.Phe1519Ser)
n.604T>C
c.3968T>C (p.Phe1323Ser)
c.4100T>C (p.Phe1367Ser)
c.3920T>C (p.Phe1307Ser)
c.3857T>C (p.Phe1286Ser)
c.3701T>C (p.Phe1234Ser)
c.3632T>C (p.Phe1211Ser)
 gnomAD v4
6g.33164901A>TCA363617560COL11A2n.620T>A
c.4814T>A (p.Phe1605Tyr)
c.4493T>A (p.Phe1498Tyr)
c.4556T>A (p.Phe1519Tyr)
n.604T>A
c.3968T>A (p.Phe1323Tyr)
c.4100T>A (p.Phe1367Tyr)
c.3920T>A (p.Phe1307Tyr)
c.3857T>A (p.Phe1286Tyr)
c.3701T>A (p.Phe1234Tyr)
c.3632T>A (p.Phe1211Tyr)
6g.33164902A>CCA363617571COL11A2n.619T>G
c.4813T>G (p.Phe1605Val)
c.4492T>G (p.Phe1498Val)
c.4555T>G (p.Phe1519Val)
n.603T>G
c.3967T>G (p.Phe1323Val)
c.4099T>G (p.Phe1367Val)
c.3919T>G (p.Phe1307Val)
c.3856T>G (p.Phe1286Val)
c.3700T>G (p.Phe1234Val)
c.3631T>G (p.Phe1211Val)
6g.33164902A>GCA363617573COL11A2n.619T>C
c.4813T>C (p.Phe1605Leu)
c.4492T>C (p.Phe1498Leu)
c.4555T>C (p.Phe1519Leu)
n.603T>C
c.3967T>C (p.Phe1323Leu)
c.4099T>C (p.Phe1367Leu)
c.3919T>C (p.Phe1307Leu)
c.3856T>C (p.Phe1286Leu)
c.3700T>C (p.Phe1234Leu)
c.3631T>C (p.Phe1211Leu)
 gnomAD v4
6g.33164902A>TCA363617575COL11A2n.619T>A
c.4813T>A (p.Phe1605Ile)
c.4492T>A (p.Phe1498Ile)
c.4555T>A (p.Phe1519Ile)
n.603T>A
c.3967T>A (p.Phe1323Ile)
c.4099T>A (p.Phe1367Ile)
c.3919T>A (p.Phe1307Ile)
c.3856T>A (p.Phe1286Ile)
c.3700T>A (p.Phe1234Ile)
c.3631T>A (p.Phe1211Ile)
6g.33164903G>ACA449867296COL11A2n.618C>T
c.4812C>T (p.Asn1604=)
c.4491C>T (p.Asn1497=)
c.4554C>T (p.Asn1518=)
n.602C>T
c.3966C>T (p.Asn1322=)
c.4098C>T (p.Asn1366=)
c.3918C>T (p.Asn1306=)
c.3855C>T (p.Asn1285=)
c.3699C>T (p.Asn1233=)
c.3630C>T (p.Asn1210=)
 dbSNP gnomAD v2 gnomAD v4
6g.33164903G>CCA363617579COL11A2n.618C>G
c.4812C>G (p.Asn1604Lys)
c.4491C>G (p.Asn1497Lys)
c.4554C>G (p.Asn1518Lys)
n.602C>G
c.3966C>G (p.Asn1322Lys)
c.4098C>G (p.Asn1366Lys)
c.3918C>G (p.Asn1306Lys)
c.3855C>G (p.Asn1285Lys)
c.3699C>G (p.Asn1233Lys)
c.3630C>G (p.Asn1210Lys)
6g.33164903G=CA1619890508COL11A2n.618C=
c.4812C= (p.Asn1604=)
c.4491C= (p.Asn1497=)
c.4554C= (p.Asn1518=)
n.602C=
c.3966C= (p.Asn1322=)
c.4098C= (p.Asn1366=)
c.3918C= (p.Asn1306=)
c.3855C= (p.Asn1285=)
c.3699C= (p.Asn1233=)
c.3630C= (p.Asn1210=)
6g.33164903G>TCA363617577COL11A2n.618C>A
c.4812C>A (p.Asn1604Lys)
c.4491C>A (p.Asn1497Lys)
c.4554C>A (p.Asn1518Lys)
n.602C>A
c.3966C>A (p.Asn1322Lys)
c.4098C>A (p.Asn1366Lys)
c.3918C>A (p.Asn1306Lys)
c.3855C>A (p.Asn1285Lys)
c.3699C>A (p.Asn1233Lys)
c.3630C>A (p.Asn1210Lys)
 gnomAD v4
6g.33164904T>ACA363617581COL11A2n.617A>T
c.4811A>T (p.Asn1604Ile)
c.4490A>T (p.Asn1497Ile)
c.4553A>T (p.Asn1518Ile)
n.601A>T
c.3965A>T (p.Asn1322Ile)
c.4097A>T (p.Asn1366Ile)
c.3917A>T (p.Asn1306Ile)
c.3854A>T (p.Asn1285Ile)
c.3698A>T (p.Asn1233Ile)
c.3629A>T (p.Asn1210Ile)
6g.33164904T>CCA363617582COL11A2n.617A>G
c.4811A>G (p.Asn1604Ser)
c.4490A>G (p.Asn1497Ser)
c.4553A>G (p.Asn1518Ser)
n.601A>G
c.3965A>G (p.Asn1322Ser)
c.4097A>G (p.Asn1366Ser)
c.3917A>G (p.Asn1306Ser)
c.3854A>G (p.Asn1285Ser)
c.3698A>G (p.Asn1233Ser)
c.3629A>G (p.Asn1210Ser)
 dbSNP gnomAD v4
6g.33164904T>GCA363617584COL11A2n.617A>C
c.4811A>C (p.Asn1604Thr)
c.4490A>C (p.Asn1497Thr)
c.4553A>C (p.Asn1518Thr)
n.601A>C
c.3965A>C (p.Asn1322Thr)
c.4097A>C (p.Asn1366Thr)
c.3917A>C (p.Asn1306Thr)
c.3854A>C (p.Asn1285Thr)
c.3698A>C (p.Asn1233Thr)
c.3629A>C (p.Asn1210Thr)
 dbSNP
6g.33164904T=CA1619890511COL11A2n.617A=
c.4811A= (p.Asn1604=)
c.4490A= (p.Asn1497=)
c.4553A= (p.Asn1518=)
n.601A=
c.3965A= (p.Asn1322=)
c.4097A= (p.Asn1366=)
c.3917A= (p.Asn1306=)
c.3854A= (p.Asn1285=)
c.3698A= (p.Asn1233=)
c.3629A= (p.Asn1210=)
6g.33164905delCA2739273022COL11A2n.617del
c.4811del (p.Asn1604ThrfsTer10)
c.4490del (p.Asn1497ThrfsTer10)
c.4553del (p.Asn1518ThrfsTer10)
n.601del
c.3965del (p.Asn1322ThrfsTer10)
c.4097del (p.Asn1366ThrfsTer10)
c.3917del (p.Asn1306ThrfsTer10)
c.3854del (p.Asn1285ThrfsTer10)
c.3698del (p.Asn1233ThrfsTer10)
c.3629del (p.Asn1210ThrfsTer10)
 ClinVar
6g.33164908_33164909insCAGAGCTTTGCACA2678226374COL11A2n.617_618insAGCTCTGTGCAA
c.4811_4812insAGCTCTGTGCAA (p.Cys1603_Asn1604insLysAlaLeuCys)
c.4490_4491insAGCTCTGTGCAA (p.Cys1496_Asn1497insLysAlaLeuCys)
c.4553_4554insAGCTCTGTGCAA (p.Cys1517_Asn1518insLysAlaLeuCys)
n.601_602insAGCTCTGTGCAA
c.3965_3966insAGCTCTGTGCAA (p.Cys1321_Asn1322insLysAlaLeuCys)
c.4097_4098insAGCTCTGTGCAA (p.Cys1365_Asn1366insLysAlaLeuCys)
c.3917_3918insAGCTCTGTGCAA (p.Cys1305_Asn1306insLysAlaLeuCys)
c.3854_3855insAGCTCTGTGCAA (p.Cys1284_Asn1285insLysAlaLeuCys)
c.3698_3699insAGCTCTGTGCAA (p.Cys1232_Asn1233insLysAlaLeuCys)
c.3629_3630insAGCTCTGTGCAA (p.Cys1209_Asn1210insLysAlaLeuCys)
 gnomAD v4
6g.33164905T>ACA363617587COL11A2n.616A>T
c.4810A>T (p.Asn1604Tyr)
c.4489A>T (p.Asn1497Tyr)
c.4552A>T (p.Asn1518Tyr)
n.600A>T
c.3964A>T (p.Asn1322Tyr)
c.4096A>T (p.Asn1366Tyr)
c.3916A>T (p.Asn1306Tyr)
c.3853A>T (p.Asn1285Tyr)
c.3697A>T (p.Asn1233Tyr)
c.3628A>T (p.Asn1210Tyr)
6g.33164905T>CCA363617588COL11A2n.616A>G
c.4810A>G (p.Asn1604Asp)
c.4489A>G (p.Asn1497Asp)
c.4552A>G (p.Asn1518Asp)
n.600A>G
c.3964A>G (p.Asn1322Asp)
c.4096A>G (p.Asn1366Asp)
c.3916A>G (p.Asn1306Asp)
c.3853A>G (p.Asn1285Asp)
c.3697A>G (p.Asn1233Asp)
c.3628A>G (p.Asn1210Asp)
 gnomAD v4
6g.33164905T>GCA363617590COL11A2n.616A>C
c.4810A>C (p.Asn1604His)
c.4489A>C (p.Asn1497His)
c.4552A>C (p.Asn1518His)
n.600A>C
c.3964A>C (p.Asn1322His)
c.4096A>C (p.Asn1366His)
c.3916A>C (p.Asn1306His)
c.3853A>C (p.Asn1285His)
c.3697A>C (p.Asn1233His)
c.3628A>C (p.Asn1210His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164905T=CA1619890515COL11A2n.616A=
c.4810A= (p.Asn1604=)
c.4489A= (p.Asn1497=)
c.4552A= (p.Asn1518=)
n.600A=
c.3964A= (p.Asn1322=)
c.4096A= (p.Asn1366=)
c.3916A= (p.Asn1306=)
c.3853A= (p.Asn1285=)
c.3697A= (p.Asn1233=)
c.3628A= (p.Asn1210=)
6g.33164906G>ACA449867297COL11A2n.615C>T
c.4809C>T (p.Cys1603=)
c.4488C>T (p.Cys1496=)
c.4551C>T (p.Cys1517=)
n.599C>T
c.3963C>T (p.Cys1321=)
c.4095C>T (p.Cys1365=)
c.3915C>T (p.Cys1305=)
c.3852C>T (p.Cys1284=)
c.3696C>T (p.Cys1232=)
c.3627C>T (p.Cys1209=)
 gnomAD v4
6g.33164906G>CCA363617592COL11A2n.615C>G
c.4809C>G (p.Cys1603Trp)
c.4488C>G (p.Cys1496Trp)
c.4551C>G (p.Cys1517Trp)
n.599C>G
c.3963C>G (p.Cys1321Trp)
c.4095C>G (p.Cys1365Trp)
c.3915C>G (p.Cys1305Trp)
c.3852C>G (p.Cys1284Trp)
c.3696C>G (p.Cys1232Trp)
c.3627C>G (p.Cys1209Trp)
6g.33164906G>TCA363617593COL11A2n.615C>A
c.4809C>A (p.Cys1603Ter)
c.4488C>A (p.Cys1496Ter)
c.4551C>A (p.Cys1517Ter)
n.599C>A
c.3963C>A (p.Cys1321Ter)
c.4095C>A (p.Cys1365Ter)
c.3915C>A (p.Cys1305Ter)
c.3852C>A (p.Cys1284Ter)
c.3696C>A (p.Cys1232Ter)
c.3627C>A (p.Cys1209Ter)
 gnomAD v4
6g.33164907C>ACA363617595COL11A2n.614G>T
c.4808G>T (p.Cys1603Phe)
c.4487G>T (p.Cys1496Phe)
c.4550G>T (p.Cys1517Phe)
n.598G>T
c.3962G>T (p.Cys1321Phe)
c.4094G>T (p.Cys1365Phe)
c.3914G>T (p.Cys1305Phe)
c.3851G>T (p.Cys1284Phe)
c.3695G>T (p.Cys1232Phe)
c.3626G>T (p.Cys1209Phe)
 gnomAD v4
6g.33164907C=CA1619890517COL11A2n.614G=
c.4808G= (p.Cys1603=)
c.4487G= (p.Cys1496=)
c.4550G= (p.Cys1517=)
n.598G=
c.3962G= (p.Cys1321=)
c.4094G= (p.Cys1365=)
c.3914G= (p.Cys1305=)
c.3851G= (p.Cys1284=)
c.3695G= (p.Cys1232=)
c.3626G= (p.Cys1209=)
6g.33164907C>GCA363617598COL11A2n.614G>C
c.4808G>C (p.Cys1603Ser)
c.4487G>C (p.Cys1496Ser)
c.4550G>C (p.Cys1517Ser)
n.598G>C
c.3962G>C (p.Cys1321Ser)
c.4094G>C (p.Cys1365Ser)
c.3914G>C (p.Cys1305Ser)
c.3851G>C (p.Cys1284Ser)
c.3695G>C (p.Cys1232Ser)
c.3626G>C (p.Cys1209Ser)
6g.33164907C>TCA363617599COL11A2n.614G>A
c.4808G>A (p.Cys1603Tyr)
c.4487G>A (p.Cys1496Tyr)
c.4550G>A (p.Cys1517Tyr)
n.598G>A
c.3962G>A (p.Cys1321Tyr)
c.4094G>A (p.Cys1365Tyr)
c.3914G>A (p.Cys1305Tyr)
c.3851G>A (p.Cys1284Tyr)
c.3695G>A (p.Cys1232Tyr)
c.3626G>A (p.Cys1209Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.33164908A>CCA363617601COL11A2n.613T>G
c.4807T>G (p.Cys1603Gly)
c.4486T>G (p.Cys1496Gly)
c.4549T>G (p.Cys1517Gly)
n.597T>G
c.3961T>G (p.Cys1321Gly)
c.4093T>G (p.Cys1365Gly)
c.3913T>G (p.Cys1305Gly)
c.3850T>G (p.Cys1284Gly)
c.3694T>G (p.Cys1232Gly)
c.3625T>G (p.Cys1209Gly)
6g.33164908A>GCA363617603COL11A2n.613T>C
c.4807T>C (p.Cys1603Arg)
c.4486T>C (p.Cys1496Arg)
c.4549T>C (p.Cys1517Arg)
n.597T>C
c.3961T>C (p.Cys1321Arg)
c.4093T>C (p.Cys1365Arg)
c.3913T>C (p.Cys1305Arg)
c.3850T>C (p.Cys1284Arg)
c.3694T>C (p.Cys1232Arg)
c.3625T>C (p.Cys1209Arg)
 gnomAD v4
6g.33164908A>TCA363617604COL11A2n.613T>A
c.4807T>A (p.Cys1603Ser)
c.4486T>A (p.Cys1496Ser)
c.4549T>A (p.Cys1517Ser)
n.597T>A
c.3961T>A (p.Cys1321Ser)
c.4093T>A (p.Cys1365Ser)
c.3913T>A (p.Cys1305Ser)
c.3850T>A (p.Cys1284Ser)
c.3694T>A (p.Cys1232Ser)
c.3625T>A (p.Cys1209Ser)
 gnomAD v4
6g.33164909G>ACA449867298COL11A2n.612C>T
c.4806C>T (p.Phe1602=)
c.4485C>T (p.Phe1495=)
c.4548C>T (p.Phe1516=)
n.596C>T
c.3960C>T (p.Phe1320=)
c.4092C>T (p.Phe1364=)
c.3912C>T (p.Phe1304=)
c.3849C>T (p.Phe1283=)
c.3693C>T (p.Phe1231=)
c.3624C>T (p.Phe1208=)
 gnomAD v4
6g.33164909G>CCA363617607COL11A2n.612C>G
c.4806C>G (p.Phe1602Leu)
c.4485C>G (p.Phe1495Leu)
c.4548C>G (p.Phe1516Leu)
n.596C>G
c.3960C>G (p.Phe1320Leu)
c.4092C>G (p.Phe1364Leu)
c.3912C>G (p.Phe1304Leu)
c.3849C>G (p.Phe1283Leu)
c.3693C>G (p.Phe1231Leu)
c.3624C>G (p.Phe1208Leu)
6g.33164909G>TCA363617608COL11A2n.612C>A
c.4806C>A (p.Phe1602Leu)
c.4485C>A (p.Phe1495Leu)
c.4548C>A (p.Phe1516Leu)
n.596C>A
c.3960C>A (p.Phe1320Leu)
c.4092C>A (p.Phe1364Leu)
c.3912C>A (p.Phe1304Leu)
c.3849C>A (p.Phe1283Leu)
c.3693C>A (p.Phe1231Leu)
c.3624C>A (p.Phe1208Leu)
 gnomAD v4
6g.33164910A>CCA363617610COL11A2n.611T>G
c.4805T>G (p.Phe1602Cys)
c.4484T>G (p.Phe1495Cys)
c.4547T>G (p.Phe1516Cys)
n.595T>G
c.3959T>G (p.Phe1320Cys)
c.4091T>G (p.Phe1364Cys)
c.3911T>G (p.Phe1304Cys)
c.3848T>G (p.Phe1283Cys)
c.3692T>G (p.Phe1231Cys)
c.3623T>G (p.Phe1208Cys)
6g.33164910A>GCA363617612COL11A2n.611T>C
c.4805T>C (p.Phe1602Ser)
c.4484T>C (p.Phe1495Ser)
c.4547T>C (p.Phe1516Ser)
n.595T>C
c.3959T>C (p.Phe1320Ser)
c.4091T>C (p.Phe1364Ser)
c.3911T>C (p.Phe1304Ser)
c.3848T>C (p.Phe1283Ser)
c.3692T>C (p.Phe1231Ser)
c.3623T>C (p.Phe1208Ser)
6g.33164910A>TCA363617614COL11A2n.611T>A
c.4805T>A (p.Phe1602Tyr)
c.4484T>A (p.Phe1495Tyr)
c.4547T>A (p.Phe1516Tyr)
n.595T>A
c.3959T>A (p.Phe1320Tyr)
c.4091T>A (p.Phe1364Tyr)
c.3911T>A (p.Phe1304Tyr)
c.3848T>A (p.Phe1283Tyr)
c.3692T>A (p.Phe1231Tyr)
c.3623T>A (p.Phe1208Tyr)
6g.33164911A>CCA363617615COL11A2n.610T>G
c.4804T>G (p.Phe1602Val)
c.4483T>G (p.Phe1495Val)
c.4546T>G (p.Phe1516Val)
n.594T>G
c.3958T>G (p.Phe1320Val)
c.4090T>G (p.Phe1364Val)
c.3910T>G (p.Phe1304Val)
c.3847T>G (p.Phe1283Val)
c.3691T>G (p.Phe1231Val)
c.3622T>G (p.Phe1208Val)
 gnomAD v4
6g.33164911A>GCA363617617COL11A2n.610T>C
c.4804T>C (p.Phe1602Leu)
c.4483T>C (p.Phe1495Leu)
c.4546T>C (p.Phe1516Leu)
n.594T>C
c.3958T>C (p.Phe1320Leu)
c.4090T>C (p.Phe1364Leu)
c.3910T>C (p.Phe1304Leu)
c.3847T>C (p.Phe1283Leu)
c.3691T>C (p.Phe1231Leu)
c.3622T>C (p.Phe1208Leu)
 gnomAD v4
6g.33164911A>TCA363617618COL11A2n.610T>A
c.4804T>A (p.Phe1602Ile)
c.4483T>A (p.Phe1495Ile)
c.4546T>A (p.Phe1516Ile)
n.594T>A
c.3958T>A (p.Phe1320Ile)
c.4090T>A (p.Phe1364Ile)
c.3910T>A (p.Phe1304Ile)
c.3847T>A (p.Phe1283Ile)
c.3691T>A (p.Phe1231Ile)
c.3622T>A (p.Phe1208Ile)
6g.33164912A>CCA449867301COL11A2n.609T>G
c.4803T>G (p.Val1601=)
c.4482T>G (p.Val1494=)
c.4545T>G (p.Val1515=)
n.593T>G
c.3957T>G (p.Val1319=)
c.4089T>G (p.Val1363=)
c.3909T>G (p.Val1303=)
c.3846T>G (p.Val1282=)
c.3690T>G (p.Val1230=)
c.3621T>G (p.Val1207=)
6g.33164912A>GCA449867299COL11A2n.609T>C
c.4803T>C (p.Val1601=)
c.4482T>C (p.Val1494=)
c.4545T>C (p.Val1515=)
n.593T>C
c.3957T>C (p.Val1319=)
c.4089T>C (p.Val1363=)
c.3909T>C (p.Val1303=)
c.3846T>C (p.Val1282=)
c.3690T>C (p.Val1230=)
c.3621T>C (p.Val1207=)
6g.33164912A>TCA449867300COL11A2n.609T>A
c.4803T>A (p.Val1601=)
c.4482T>A (p.Val1494=)
c.4545T>A (p.Val1515=)
n.593T>A
c.3957T>A (p.Val1319=)
c.4089T>A (p.Val1363=)
c.3909T>A (p.Val1303=)
c.3846T>A (p.Val1282=)
c.3690T>A (p.Val1230=)
c.3621T>A (p.Val1207=)
6g.33164913A>CCA363617620COL11A2n.608T>G
c.4802T>G (p.Val1601Gly)
c.4481T>G (p.Val1494Gly)
c.4544T>G (p.Val1515Gly)
n.592T>G
c.3956T>G (p.Val1319Gly)
c.4088T>G (p.Val1363Gly)
c.3908T>G (p.Val1303Gly)
c.3845T>G (p.Val1282Gly)
c.3689T>G (p.Val1230Gly)
c.3620T>G (p.Val1207Gly)
6g.33164913A>GCA363617621COL11A2n.608T>C
c.4802T>C (p.Val1601Ala)
c.4481T>C (p.Val1494Ala)
c.4544T>C (p.Val1515Ala)
n.592T>C
c.3956T>C (p.Val1319Ala)
c.4088T>C (p.Val1363Ala)
c.3908T>C (p.Val1303Ala)
c.3845T>C (p.Val1282Ala)
c.3689T>C (p.Val1230Ala)
c.3620T>C (p.Val1207Ala)
 gnomAD v4
6g.33164913A>TCA363617623COL11A2n.608T>A
c.4802T>A (p.Val1601Asp)
c.4481T>A (p.Val1494Asp)
c.4544T>A (p.Val1515Asp)
n.592T>A
c.3956T>A (p.Val1319Asp)
c.4088T>A (p.Val1363Asp)
c.3908T>A (p.Val1303Asp)
c.3845T>A (p.Val1282Asp)
c.3689T>A (p.Val1230Asp)
c.3620T>A (p.Val1207Asp)
6g.33164914C>ACA363617625COL11A2n.607G>T
c.4801G>T (p.Val1601Phe)
c.4480G>T (p.Val1494Phe)
c.4543G>T (p.Val1515Phe)
n.591G>T
c.3955G>T (p.Val1319Phe)
c.4087G>T (p.Val1363Phe)
c.3907G>T (p.Val1303Phe)
c.3844G>T (p.Val1282Phe)
c.3688G>T (p.Val1230Phe)
c.3619G>T (p.Val1207Phe)
 gnomAD v4
6g.33164914C>GCA363617627COL11A2n.607G>C
c.4801G>C (p.Val1601Leu)
c.4480G>C (p.Val1494Leu)
c.4543G>C (p.Val1515Leu)
n.591G>C
c.3955G>C (p.Val1319Leu)
c.4087G>C (p.Val1363Leu)
c.3907G>C (p.Val1303Leu)
c.3844G>C (p.Val1282Leu)
c.3688G>C (p.Val1230Leu)
c.3619G>C (p.Val1207Leu)
6g.33164914C>TCA363617629COL11A2n.607G>A
c.4801G>A (p.Val1601Ile)
c.4480G>A (p.Val1494Ile)
c.4543G>A (p.Val1515Ile)
n.591G>A
c.3955G>A (p.Val1319Ile)
c.4087G>A (p.Val1363Ile)
c.3907G>A (p.Val1303Ile)
c.3844G>A (p.Val1282Ile)
c.3688G>A (p.Val1230Ile)
c.3619G>A (p.Val1207Ile)
 gnomAD v4
6g.33164915T>ACA449867302COL11A2n.606A>T
c.4800A>T (p.Arg1600=)
c.4479A>T (p.Arg1493=)
c.4542A>T (p.Arg1514=)
n.590A>T
c.3954A>T (p.Arg1318=)
c.4086A>T (p.Arg1362=)
c.3906A>T (p.Arg1302=)
c.3843A>T (p.Arg1281=)
c.3687A>T (p.Arg1229=)
c.3618A>T (p.Arg1206=)
 gnomAD v4
6g.33164915T>CCA449867303COL11A2n.606A>G
c.4800A>G (p.Arg1600=)
c.4479A>G (p.Arg1493=)
c.4542A>G (p.Arg1514=)
n.590A>G
c.3954A>G (p.Arg1318=)
c.4086A>G (p.Arg1362=)
c.3906A>G (p.Arg1302=)
c.3843A>G (p.Arg1281=)
c.3687A>G (p.Arg1229=)
c.3618A>G (p.Arg1206=)
6g.33164915T>GCA449867304COL11A2n.606A>C
c.4800A>C (p.Arg1600=)
c.4479A>C (p.Arg1493=)
c.4542A>C (p.Arg1514=)
n.590A>C
c.3954A>C (p.Arg1318=)
c.4086A>C (p.Arg1362=)
c.3906A>C (p.Arg1302=)
c.3843A>C (p.Arg1281=)
c.3687A>C (p.Arg1229=)
c.3618A>C (p.Arg1206=)
6g.33164916C>ACA363617632COL11A2n.605G>T
c.4799G>T (p.Arg1600Leu)
c.4478G>T (p.Arg1493Leu)
c.4541G>T (p.Arg1514Leu)
n.589G>T
c.3953G>T (p.Arg1318Leu)
c.4085G>T (p.Arg1362Leu)
c.3905G>T (p.Arg1302Leu)
c.3842G>T (p.Arg1281Leu)
c.3686G>T (p.Arg1229Leu)
c.3617G>T (p.Arg1206Leu)
 gnomAD v4
6g.33164916C=CA1619890522COL11A2n.605G=
c.4799G= (p.Arg1600=)
c.4478G= (p.Arg1493=)
c.4541G= (p.Arg1514=)
n.589G=
c.3953G= (p.Arg1318=)
c.4085G= (p.Arg1362=)
c.3905G= (p.Arg1302=)
c.3842G= (p.Arg1281=)
c.3686G= (p.Arg1229=)
c.3617G= (p.Arg1206=)
6g.33164916C>GCA363617634COL11A2n.605G>C
c.4799G>C (p.Arg1600Pro)
c.4478G>C (p.Arg1493Pro)
c.4541G>C (p.Arg1514Pro)
n.589G>C
c.3953G>C (p.Arg1318Pro)
c.4085G>C (p.Arg1362Pro)
c.3905G>C (p.Arg1302Pro)
c.3842G>C (p.Arg1281Pro)
c.3686G>C (p.Arg1229Pro)
c.3617G>C (p.Arg1206Pro)
 gnomAD v4
6g.33164916C>TCA182640COL11A2n.605G>A
c.4799G>A (p.Arg1600Gln)
c.4478G>A (p.Arg1493Gln)
c.4541G>A (p.Arg1514Gln)
n.589G>A
c.3953G>A (p.Arg1318Gln)
c.4085G>A (p.Arg1362Gln)
c.3905G>A (p.Arg1302Gln)
c.3842G>A (p.Arg1281Gln)
c.3686G>A (p.Arg1229Gln)
c.3617G>A (p.Arg1206Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164917G>ACA363617637COL11A2n.604C>T
c.4798C>T (p.Arg1600Ter)
c.4477C>T (p.Arg1493Ter)
c.4540C>T (p.Arg1514Ter)
n.588C>T
c.3952C>T (p.Arg1318Ter)
c.4084C>T (p.Arg1362Ter)
c.3904C>T (p.Arg1302Ter)
c.3841C>T (p.Arg1281Ter)
c.3685C>T (p.Arg1229Ter)
c.3616C>T (p.Arg1206Ter)
 ClinVar gnomAD v4
6g.33164917G>CCA363617639COL11A2n.604C>G
c.4798C>G (p.Arg1600Gly)
c.4477C>G (p.Arg1493Gly)
c.4540C>G (p.Arg1514Gly)
n.588C>G
c.3952C>G (p.Arg1318Gly)
c.4084C>G (p.Arg1362Gly)
c.3904C>G (p.Arg1302Gly)
c.3841C>G (p.Arg1281Gly)
c.3685C>G (p.Arg1229Gly)
c.3616C>G (p.Arg1206Gly)
6g.33164917G>TCA449867305COL11A2n.604C>A
c.4798C>A (p.Arg1600=)
c.4477C>A (p.Arg1493=)
c.4540C>A (p.Arg1514=)
n.588C>A
c.3952C>A (p.Arg1318=)
c.4084C>A (p.Arg1362=)
c.3904C>A (p.Arg1302=)
c.3841C>A (p.Arg1281=)
c.3685C>A (p.Arg1229=)
c.3616C>A (p.Arg1206=)
 gnomAD v4
6g.33164918G>ACA449867306COL11A2n.603C>T
c.4797C>T (p.Phe1599=)
c.4476C>T (p.Phe1492=)
c.4539C>T (p.Phe1513=)
n.587C>T
c.3951C>T (p.Phe1317=)
c.4083C>T (p.Phe1361=)
c.3903C>T (p.Phe1301=)
c.3840C>T (p.Phe1280=)
c.3684C>T (p.Phe1228=)
c.3615C>T (p.Phe1205=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164918G>CCA363617641COL11A2n.603C>G
c.4797C>G (p.Phe1599Leu)
c.4476C>G (p.Phe1492Leu)
c.4539C>G (p.Phe1513Leu)
n.587C>G
c.3951C>G (p.Phe1317Leu)
c.4083C>G (p.Phe1361Leu)
c.3903C>G (p.Phe1301Leu)
c.3840C>G (p.Phe1280Leu)
c.3684C>G (p.Phe1228Leu)
c.3615C>G (p.Phe1205Leu)
6g.33164918G=CA1619890530COL11A2n.603C=
c.4797C= (p.Phe1599=)
c.4476C= (p.Phe1492=)
c.4539C= (p.Phe1513=)
n.587C=
c.3951C= (p.Phe1317=)
c.4083C= (p.Phe1361=)
c.3903C= (p.Phe1301=)
c.3840C= (p.Phe1280=)
c.3684C= (p.Phe1228=)
c.3615C= (p.Phe1205=)
6g.33164918G>TCA363617642COL11A2n.603C>A
c.4797C>A (p.Phe1599Leu)
c.4476C>A (p.Phe1492Leu)
c.4539C>A (p.Phe1513Leu)
n.587C>A
c.3951C>A (p.Phe1317Leu)
c.4083C>A (p.Phe1361Leu)
c.3903C>A (p.Phe1301Leu)
c.3840C>A (p.Phe1280Leu)
c.3684C>A (p.Phe1228Leu)
c.3615C>A (p.Phe1205Leu)
 gnomAD v4
6g.33164919A>CCA363617648COL11A2n.602T>G
c.4796T>G (p.Phe1599Cys)
c.4475T>G (p.Phe1492Cys)
c.4538T>G (p.Phe1513Cys)
n.586T>G
c.3950T>G (p.Phe1317Cys)
c.4082T>G (p.Phe1361Cys)
c.3902T>G (p.Phe1301Cys)
c.3839T>G (p.Phe1280Cys)
c.3683T>G (p.Phe1228Cys)
c.3614T>G (p.Phe1205Cys)
6g.33164919A>GCA363617647COL11A2n.602T>C
c.4796T>C (p.Phe1599Ser)
c.4475T>C (p.Phe1492Ser)
c.4538T>C (p.Phe1513Ser)
n.586T>C
c.3950T>C (p.Phe1317Ser)
c.4082T>C (p.Phe1361Ser)
c.3902T>C (p.Phe1301Ser)
c.3839T>C (p.Phe1280Ser)
c.3683T>C (p.Phe1228Ser)
c.3614T>C (p.Phe1205Ser)
6g.33164919A>TCA363617645COL11A2n.602T>A
c.4796T>A (p.Phe1599Tyr)
c.4475T>A (p.Phe1492Tyr)
c.4538T>A (p.Phe1513Tyr)
n.586T>A
c.3950T>A (p.Phe1317Tyr)
c.4082T>A (p.Phe1361Tyr)
c.3902T>A (p.Phe1301Tyr)
c.3839T>A (p.Phe1280Tyr)
c.3683T>A (p.Phe1228Tyr)
c.3614T>A (p.Phe1205Tyr)
6g.33164920A>CCA363617650COL11A2n.601T>G
c.4795T>G (p.Phe1599Val)
c.4474T>G (p.Phe1492Val)
c.4537T>G (p.Phe1513Val)
n.585T>G
c.3949T>G (p.Phe1317Val)
c.4081T>G (p.Phe1361Val)
c.3901T>G (p.Phe1301Val)
c.3838T>G (p.Phe1280Val)
c.3682T>G (p.Phe1228Val)
c.3613T>G (p.Phe1205Val)
6g.33164920A>GCA363617652COL11A2n.601T>C
c.4795T>C (p.Phe1599Leu)
c.4474T>C (p.Phe1492Leu)
c.4537T>C (p.Phe1513Leu)
n.585T>C
c.3949T>C (p.Phe1317Leu)
c.4081T>C (p.Phe1361Leu)
c.3901T>C (p.Phe1301Leu)
c.3838T>C (p.Phe1280Leu)
c.3682T>C (p.Phe1228Leu)
c.3613T>C (p.Phe1205Leu)
 gnomAD v4
6g.33164920A>TCA363617654COL11A2n.601T>A
c.4795T>A (p.Phe1599Ile)
c.4474T>A (p.Phe1492Ile)
c.4537T>A (p.Phe1513Ile)
n.585T>A
c.3949T>A (p.Phe1317Ile)
c.4081T>A (p.Phe1361Ile)
c.3901T>A (p.Phe1301Ile)
c.3838T>A (p.Phe1280Ile)
c.3682T>A (p.Phe1228Ile)
c.3613T>A (p.Phe1205Ile)
 gnomAD v4
6g.33164921G>ACA449867307COL11A2n.600C>T
c.4794C>T (p.Ala1598=)
c.4473C>T (p.Ala1491=)
c.4536C>T (p.Ala1512=)
n.584C>T
c.3948C>T (p.Ala1316=)
c.4080C>T (p.Ala1360=)
c.3900C>T (p.Ala1300=)
c.3837C>T (p.Ala1279=)
c.3681C>T (p.Ala1227=)
c.3612C>T (p.Ala1204=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164921G>CCA449867308COL11A2n.600C>G
c.4794C>G (p.Ala1598=)
c.4473C>G (p.Ala1491=)
c.4536C>G (p.Ala1512=)
n.584C>G
c.3948C>G (p.Ala1316=)
c.4080C>G (p.Ala1360=)
c.3900C>G (p.Ala1300=)
c.3837C>G (p.Ala1279=)
c.3681C>G (p.Ala1227=)
c.3612C>G (p.Ala1204=)
6g.33164921G=CA1619890536COL11A2n.600C=
c.4794C= (p.Ala1598=)
c.4473C= (p.Ala1491=)
c.4536C= (p.Ala1512=)
n.584C=
c.3948C= (p.Ala1316=)
c.4080C= (p.Ala1360=)
c.3900C= (p.Ala1300=)
c.3837C= (p.Ala1279=)
c.3681C= (p.Ala1227=)
c.3612C= (p.Ala1204=)
6g.33164921G>TCA449867309COL11A2n.600C>A
c.4794C>A (p.Ala1598=)
c.4473C>A (p.Ala1491=)
c.4536C>A (p.Ala1512=)
n.584C>A
c.3948C>A (p.Ala1316=)
c.4080C>A (p.Ala1360=)
c.3900C>A (p.Ala1300=)
c.3837C>A (p.Ala1279=)
c.3681C>A (p.Ala1227=)
c.3612C>A (p.Ala1204=)
 gnomAD v4
6g.33164922G>ACA363617656COL11A2n.599C>T
c.4793C>T (p.Ala1598Val)
c.4472C>T (p.Ala1491Val)
c.4535C>T (p.Ala1512Val)
n.583C>T
c.3947C>T (p.Ala1316Val)
c.4079C>T (p.Ala1360Val)
c.3899C>T (p.Ala1300Val)
c.3836C>T (p.Ala1279Val)
c.3680C>T (p.Ala1227Val)
c.3611C>T (p.Ala1204Val)
 gnomAD v4
6g.33164922G>CCA363617659COL11A2n.599C>G
c.4793C>G (p.Ala1598Gly)
c.4472C>G (p.Ala1491Gly)
c.4535C>G (p.Ala1512Gly)
n.583C>G
c.3947C>G (p.Ala1316Gly)
c.4079C>G (p.Ala1360Gly)
c.3899C>G (p.Ala1300Gly)
c.3836C>G (p.Ala1279Gly)
c.3680C>G (p.Ala1227Gly)
c.3611C>G (p.Ala1204Gly)
6g.33164922G>TCA363617661COL11A2n.599C>A
c.4793C>A (p.Ala1598Asp)
c.4472C>A (p.Ala1491Asp)
c.4535C>A (p.Ala1512Asp)
n.583C>A
c.3947C>A (p.Ala1316Asp)
c.4079C>A (p.Ala1360Asp)
c.3899C>A (p.Ala1300Asp)
c.3836C>A (p.Ala1279Asp)
c.3680C>A (p.Ala1227Asp)
c.3611C>A (p.Ala1204Asp)
6g.33164923C>ACA363617667COL11A2n.598G>T
c.4792G>T (p.Ala1598Ser)
c.4471G>T (p.Ala1491Ser)
c.4534G>T (p.Ala1512Ser)
n.582G>T
c.3946G>T (p.Ala1316Ser)
c.4078G>T (p.Ala1360Ser)
c.3898G>T (p.Ala1300Ser)
c.3835G>T (p.Ala1279Ser)
c.3679G>T (p.Ala1227Ser)
c.3610G>T (p.Ala1204Ser)
 gnomAD v4
6g.33164923C>GCA363617665COL11A2n.598G>C
c.4792G>C (p.Ala1598Pro)
c.4471G>C (p.Ala1491Pro)
c.4534G>C (p.Ala1512Pro)
n.582G>C
c.3946G>C (p.Ala1316Pro)
c.4078G>C (p.Ala1360Pro)
c.3898G>C (p.Ala1300Pro)
c.3835G>C (p.Ala1279Pro)
c.3679G>C (p.Ala1227Pro)
c.3610G>C (p.Ala1204Pro)
6g.33164923C>TCA363617664COL11A2n.598G>A
c.4792G>A (p.Ala1598Thr)
c.4471G>A (p.Ala1491Thr)
c.4534G>A (p.Ala1512Thr)
n.582G>A
c.3946G>A (p.Ala1316Thr)
c.4078G>A (p.Ala1360Thr)
c.3898G>A (p.Ala1300Thr)
c.3835G>A (p.Ala1279Thr)
c.3679G>A (p.Ala1227Thr)
c.3610G>A (p.Ala1204Thr)
 gnomAD v4
6g.33164924A>CCA363617669COL11A2n.597T>G
c.4791T>G (p.Asp1597Glu)
c.4470T>G (p.Asp1490Glu)
c.4533T>G (p.Asp1511Glu)
n.581T>G
c.3945T>G (p.Asp1315Glu)
c.4077T>G (p.Asp1359Glu)
c.3897T>G (p.Asp1299Glu)
c.3834T>G (p.Asp1278Glu)
c.3678T>G (p.Asp1226Glu)
c.3609T>G (p.Asp1203Glu)
6g.33164924A>GCA449867310COL11A2n.597T>C
c.4791T>C (p.Asp1597=)
c.4470T>C (p.Asp1490=)
c.4533T>C (p.Asp1511=)
n.581T>C
c.3945T>C (p.Asp1315=)
c.4077T>C (p.Asp1359=)
c.3897T>C (p.Asp1299=)
c.3834T>C (p.Asp1278=)
c.3678T>C (p.Asp1226=)
c.3609T>C (p.Asp1203=)
6g.33164924A>TCA363617671COL11A2n.597T>A
c.4791T>A (p.Asp1597Glu)
c.4470T>A (p.Asp1490Glu)
c.4533T>A (p.Asp1511Glu)
n.581T>A
c.3945T>A (p.Asp1315Glu)
c.4077T>A (p.Asp1359Glu)
c.3897T>A (p.Asp1299Glu)
c.3834T>A (p.Asp1278Glu)
c.3678T>A (p.Asp1226Glu)
c.3609T>A (p.Asp1203Glu)
6g.33164925T>ACA363617672COL11A2n.596A>T
c.4790A>T (p.Asp1597Val)
c.4469A>T (p.Asp1490Val)
c.4532A>T (p.Asp1511Val)
n.580A>T
c.3944A>T (p.Asp1315Val)
c.4076A>T (p.Asp1359Val)
c.3896A>T (p.Asp1299Val)
c.3833A>T (p.Asp1278Val)
c.3677A>T (p.Asp1226Val)
c.3608A>T (p.Asp1203Val)
 gnomAD v4
6g.33164925T>CCA363617674COL11A2n.596A>G
c.4790A>G (p.Asp1597Gly)
c.4469A>G (p.Asp1490Gly)
c.4532A>G (p.Asp1511Gly)
n.580A>G
c.3944A>G (p.Asp1315Gly)
c.4076A>G (p.Asp1359Gly)
c.3896A>G (p.Asp1299Gly)
c.3833A>G (p.Asp1278Gly)
c.3677A>G (p.Asp1226Gly)
c.3608A>G (p.Asp1203Gly)
6g.33164925T>GCA363617675COL11A2n.596A>C
c.4790A>C (p.Asp1597Ala)
c.4469A>C (p.Asp1490Ala)
c.4532A>C (p.Asp1511Ala)
n.580A>C
c.3944A>C (p.Asp1315Ala)
c.4076A>C (p.Asp1359Ala)
c.3896A>C (p.Asp1299Ala)
c.3833A>C (p.Asp1278Ala)
c.3677A>C (p.Asp1226Ala)
c.3608A>C (p.Asp1203Ala)
6g.33164926C>ACA363617677COL11A2n.595G>T
c.4789G>T (p.Asp1597Tyr)
c.4468G>T (p.Asp1490Tyr)
c.4531G>T (p.Asp1511Tyr)
n.579G>T
c.3943G>T (p.Asp1315Tyr)
c.4075G>T (p.Asp1359Tyr)
c.3895G>T (p.Asp1299Tyr)
c.3832G>T (p.Asp1278Tyr)
c.3676G>T (p.Asp1226Tyr)
c.3607G>T (p.Asp1203Tyr)
 gnomAD v4
6g.33164926C=CA1619890538COL11A2n.595G=
c.4789G= (p.Asp1597=)
c.4468G= (p.Asp1490=)
c.4531G= (p.Asp1511=)
n.579G=
c.3943G= (p.Asp1315=)
c.4075G= (p.Asp1359=)
c.3895G= (p.Asp1299=)
c.3832G= (p.Asp1278=)
c.3676G= (p.Asp1226=)
c.3607G= (p.Asp1203=)
6g.33164926C>GCA363617679COL11A2n.595G>C
c.4789G>C (p.Asp1597His)
c.4468G>C (p.Asp1490His)
c.4531G>C (p.Asp1511His)
n.579G>C
c.3943G>C (p.Asp1315His)
c.4075G>C (p.Asp1359His)
c.3895G>C (p.Asp1299His)
c.3832G>C (p.Asp1278His)
c.3676G>C (p.Asp1226His)
c.3607G>C (p.Asp1203His)
6g.33164926C>TCA363617681COL11A2n.595G>A
c.4789G>A (p.Asp1597Asn)
c.4468G>A (p.Asp1490Asn)
c.4531G>A (p.Asp1511Asn)
n.579G>A
c.3943G>A (p.Asp1315Asn)
c.4075G>A (p.Asp1359Asn)
c.3895G>A (p.Asp1299Asn)
c.3832G>A (p.Asp1278Asn)
c.3676G>A (p.Asp1226Asn)
c.3607G>A (p.Asp1203Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.33164928delCA2739273023COL11A2n.595del
c.4789del (p.Asp1597MetfsTer17)
c.4468del (p.Asp1490MetfsTer17)
c.4531del (p.Asp1511MetfsTer17)
n.579del
c.3943del (p.Asp1315MetfsTer17)
c.4075del (p.Asp1359MetfsTer17)
c.3895del (p.Asp1299MetfsTer17)
c.3832del (p.Asp1278MetfsTer17)
c.3676del (p.Asp1226MetfsTer17)
c.3607del (p.Asp1203MetfsTer17)
 ClinVar
6g.33164927C>ACA449867311COL11A2n.594G>T
c.4788G>T (p.Arg1596=)
c.4467G>T (p.Arg1489=)
c.4530G>T (p.Arg1510=)
n.578G>T
c.3942G>T (p.Arg1314=)
c.4074G>T (p.Arg1358=)
c.3894G>T (p.Arg1298=)
c.3831G>T (p.Arg1277=)
c.3675G>T (p.Arg1225=)
c.3606G>T (p.Arg1202=)
 gnomAD v4
6g.33164927C>GCA449867312COL11A2n.594G>C
c.4788G>C (p.Arg1596=)
c.4467G>C (p.Arg1489=)
c.4530G>C (p.Arg1510=)
n.578G>C
c.3942G>C (p.Arg1314=)
c.4074G>C (p.Arg1358=)
c.3894G>C (p.Arg1298=)
c.3831G>C (p.Arg1277=)
c.3675G>C (p.Arg1225=)
c.3606G>C (p.Arg1202=)
 gnomAD v4
6g.33164927C>TCA449867313COL11A2n.594G>A
c.4788G>A (p.Arg1596=)
c.4467G>A (p.Arg1489=)
c.4530G>A (p.Arg1510=)
n.578G>A
c.3942G>A (p.Arg1314=)
c.4074G>A (p.Arg1358=)
c.3894G>A (p.Arg1298=)
c.3831G>A (p.Arg1277=)
c.3675G>A (p.Arg1225=)
c.3606G>A (p.Arg1202=)
 gnomAD v4
6g.33164927_33164933delinsCCGAGCACA1619890540COL11A2n.588_594delinsTGCTCGG
c.4782_4788delinsTGCTCGG (p.Cys1594=)
c.4461_4467delinsTGCTCGG (p.Cys1487=)
c.4524_4530delinsTGCTCGG (p.Cys1508=)
n.572_578delinsTGCTCGG
c.3936_3942delinsTGCTCGG (p.Cys1312=)
c.4068_4074delinsTGCTCGG (p.Cys1356=)
c.3888_3894delinsTGCTCGG (p.Cys1296=)
c.3825_3831delinsTGCTCGG (p.Cys1275=)
c.3669_3675delinsTGCTCGG (p.Cys1223=)
c.3600_3606delinsTGCTCGG (p.Cys1200=)
6g.33164928C>ACA363617686COL11A2n.593G>T
c.4787G>T (p.Arg1596Leu)
c.4466G>T (p.Arg1489Leu)
c.4529G>T (p.Arg1510Leu)
n.577G>T
c.3941G>T (p.Arg1314Leu)
c.4073G>T (p.Arg1358Leu)
c.3893G>T (p.Arg1298Leu)
c.3830G>T (p.Arg1277Leu)
c.3674G>T (p.Arg1225Leu)
c.3605G>T (p.Arg1202Leu)
 gnomAD v4
6g.33164928C=CA1619890544COL11A2n.593G=
c.4787G= (p.Arg1596=)
c.4466G= (p.Arg1489=)
c.4529G= (p.Arg1510=)
n.577G=
c.3941G= (p.Arg1314=)
c.4073G= (p.Arg1358=)
c.3893G= (p.Arg1298=)
c.3830G= (p.Arg1277=)
c.3674G= (p.Arg1225=)
c.3605G= (p.Arg1202=)
6g.33164928C>GCA363617685COL11A2n.593G>C
c.4787G>C (p.Arg1596Pro)
c.4466G>C (p.Arg1489Pro)
c.4529G>C (p.Arg1510Pro)
n.577G>C
c.3941G>C (p.Arg1314Pro)
c.4073G>C (p.Arg1358Pro)
c.3893G>C (p.Arg1298Pro)
c.3830G>C (p.Arg1277Pro)
c.3674G>C (p.Arg1225Pro)
c.3605G>C (p.Arg1202Pro)
6g.33164928C>TCA137061744COL11A2n.593G>A
c.4787G>A (p.Arg1596Gln)
c.4466G>A (p.Arg1489Gln)
c.4529G>A (p.Arg1510Gln)
n.577G>A
c.3941G>A (p.Arg1314Gln)
c.4073G>A (p.Arg1358Gln)
c.3893G>A (p.Arg1298Gln)
c.3830G>A (p.Arg1277Gln)
c.3674G>A (p.Arg1225Gln)
c.3605G>A (p.Arg1202Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164929_33164934delCA3749994COL11A2n.588_593del
c.4782_4787del (p.Cys1594_Arg1596delinsTrp)
c.4461_4466del (p.Cys1487_Arg1489delinsTrp)
c.4524_4529del (p.Cys1508_Arg1510delinsTrp)
n.572_577del
c.3936_3941del (p.Cys1312_Arg1314delinsTrp)
c.4068_4073del (p.Cys1356_Arg1358delinsTrp)
c.3888_3893del (p.Cys1296_Arg1298delinsTrp)
c.3825_3830del (p.Cys1275_Arg1277delinsTrp)
c.3669_3674del (p.Cys1223_Arg1225delinsTrp)
c.3600_3605del (p.Cys1200_Arg1202delinsTrp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164929G>ACA3749995COL11A2n.592C>T
c.4786C>T (p.Arg1596Trp)
c.4465C>T (p.Arg1489Trp)
c.4528C>T (p.Arg1510Trp)
n.576C>T
c.3940C>T (p.Arg1314Trp)
c.4072C>T (p.Arg1358Trp)
c.3892C>T (p.Arg1298Trp)
c.3829C>T (p.Arg1277Trp)
c.3673C>T (p.Arg1225Trp)
c.3604C>T (p.Arg1202Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164929G>CCA363617691COL11A2n.592C>G
c.4786C>G (p.Arg1596Gly)
c.4465C>G (p.Arg1489Gly)
c.4528C>G (p.Arg1510Gly)
n.576C>G
c.3940C>G (p.Arg1314Gly)
c.4072C>G (p.Arg1358Gly)
c.3892C>G (p.Arg1298Gly)
c.3829C>G (p.Arg1277Gly)
c.3673C>G (p.Arg1225Gly)
c.3604C>G (p.Arg1202Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.33164929G=CA1619890549COL11A2n.592C=
c.4786C= (p.Arg1596=)
c.4465C= (p.Arg1489=)
c.4528C= (p.Arg1510=)
n.576C=
c.3940C= (p.Arg1314=)
c.4072C= (p.Arg1358=)
c.3892C= (p.Arg1298=)
c.3829C= (p.Arg1277=)
c.3673C= (p.Arg1225=)
c.3604C= (p.Arg1202=)
6g.33164929G>TCA449867314COL11A2n.592C>A
c.4786C>A (p.Arg1596=)
c.4465C>A (p.Arg1489=)
c.4528C>A (p.Arg1510=)
n.576C>A
c.3940C>A (p.Arg1314=)
c.4072C>A (p.Arg1358=)
c.3892C>A (p.Arg1298=)
c.3829C>A (p.Arg1277=)
c.3673C>A (p.Arg1225=)
c.3604C>A (p.Arg1202=)
 gnomAD v4
6g.33164930A>CCA449867315COL11A2n.591T>G
c.4785T>G (p.Ala1595=)
c.4464T>G (p.Ala1488=)
c.4527T>G (p.Ala1509=)
n.575T>G
c.3939T>G (p.Ala1313=)
c.4071T>G (p.Ala1357=)
c.3891T>G (p.Ala1297=)
c.3828T>G (p.Ala1276=)
c.3672T>G (p.Ala1224=)
c.3603T>G (p.Ala1201=)
6g.33164930A>GCA449867316COL11A2n.591T>C
c.4785T>C (p.Ala1595=)
c.4464T>C (p.Ala1488=)
c.4527T>C (p.Ala1509=)
n.575T>C
c.3939T>C (p.Ala1313=)
c.4071T>C (p.Ala1357=)
c.3891T>C (p.Ala1297=)
c.3828T>C (p.Ala1276=)
c.3672T>C (p.Ala1224=)
c.3603T>C (p.Ala1201=)
6g.33164930A>TCA449867317COL11A2n.591T>A
c.4785T>A (p.Ala1595=)
c.4464T>A (p.Ala1488=)
c.4527T>A (p.Ala1509=)
n.575T>A
c.3939T>A (p.Ala1313=)
c.4071T>A (p.Ala1357=)
c.3891T>A (p.Ala1297=)
c.3828T>A (p.Ala1276=)
c.3672T>A (p.Ala1224=)
c.3603T>A (p.Ala1201=)
6g.33164931G>ACA363617694COL11A2n.590C>T
c.4784C>T (p.Ala1595Val)
c.4463C>T (p.Ala1488Val)
c.4526C>T (p.Ala1509Val)
n.574C>T
c.3938C>T (p.Ala1313Val)
c.4070C>T (p.Ala1357Val)
c.3890C>T (p.Ala1297Val)
c.3827C>T (p.Ala1276Val)
c.3671C>T (p.Ala1224Val)
c.3602C>T (p.Ala1201Val)
 gnomAD v4
6g.33164931G>CCA363617697COL11A2n.590C>G
c.4784C>G (p.Ala1595Gly)
c.4463C>G (p.Ala1488Gly)
c.4526C>G (p.Ala1509Gly)
n.574C>G
c.3938C>G (p.Ala1313Gly)
c.4070C>G (p.Ala1357Gly)
c.3890C>G (p.Ala1297Gly)
c.3827C>G (p.Ala1276Gly)
c.3671C>G (p.Ala1224Gly)
c.3602C>G (p.Ala1201Gly)
6g.33164931G>TCA363617698COL11A2n.590C>A
c.4784C>A (p.Ala1595Asp)
c.4463C>A (p.Ala1488Asp)
c.4526C>A (p.Ala1509Asp)
n.574C>A
c.3938C>A (p.Ala1313Asp)
c.4070C>A (p.Ala1357Asp)
c.3890C>A (p.Ala1297Asp)
c.3827C>A (p.Ala1276Asp)
c.3671C>A (p.Ala1224Asp)
c.3602C>A (p.Ala1201Asp)
 gnomAD v4
6g.33164932C>ACA363617701COL11A2n.589G>T
c.4783G>T (p.Ala1595Ser)
c.4462G>T (p.Ala1488Ser)
c.4525G>T (p.Ala1509Ser)
n.573G>T
c.3937G>T (p.Ala1313Ser)
c.4069G>T (p.Ala1357Ser)
c.3889G>T (p.Ala1297Ser)
c.3826G>T (p.Ala1276Ser)
c.3670G>T (p.Ala1224Ser)
c.3601G>T (p.Ala1201Ser)
 gnomAD v4
6g.33164932C>GCA363617703COL11A2n.589G>C
c.4783G>C (p.Ala1595Pro)
c.4462G>C (p.Ala1488Pro)
c.4525G>C (p.Ala1509Pro)
n.573G>C
c.3937G>C (p.Ala1313Pro)
c.4069G>C (p.Ala1357Pro)
c.3889G>C (p.Ala1297Pro)
c.3826G>C (p.Ala1276Pro)
c.3670G>C (p.Ala1224Pro)
c.3601G>C (p.Ala1201Pro)
6g.33164932C>TCA363617702COL11A2n.589G>A
c.4783G>A (p.Ala1595Thr)
c.4462G>A (p.Ala1488Thr)
c.4525G>A (p.Ala1509Thr)
n.573G>A
c.3937G>A (p.Ala1313Thr)
c.4069G>A (p.Ala1357Thr)
c.3889G>A (p.Ala1297Thr)
c.3826G>A (p.Ala1276Thr)
c.3670G>A (p.Ala1224Thr)
c.3601G>A (p.Ala1201Thr)
 gnomAD v4
6g.33164933A>CCA363617704COL11A2n.588T>G
c.4782T>G (p.Cys1594Trp)
c.4461T>G (p.Cys1487Trp)
c.4524T>G (p.Cys1508Trp)
n.572T>G
c.3936T>G (p.Cys1312Trp)
c.4068T>G (p.Cys1356Trp)
c.3888T>G (p.Cys1296Trp)
c.3825T>G (p.Cys1275Trp)
c.3669T>G (p.Cys1223Trp)
c.3600T>G (p.Cys1200Trp)
6g.33164933A>GCA449867318COL11A2n.588T>C
c.4782T>C (p.Cys1594=)
c.4461T>C (p.Cys1487=)
c.4524T>C (p.Cys1508=)
n.572T>C
c.3936T>C (p.Cys1312=)
c.4068T>C (p.Cys1356=)
c.3888T>C (p.Cys1296=)
c.3825T>C (p.Cys1275=)
c.3669T>C (p.Cys1223=)
c.3600T>C (p.Cys1200=)
 gnomAD v4
6g.33164933A>TCA363617705COL11A2n.588T>A
c.4782T>A (p.Cys1594Ter)
c.4461T>A (p.Cys1487Ter)
c.4524T>A (p.Cys1508Ter)
n.572T>A
c.3936T>A (p.Cys1312Ter)
c.4068T>A (p.Cys1356Ter)
c.3888T>A (p.Cys1296Ter)
c.3825T>A (p.Cys1275Ter)
c.3669T>A (p.Cys1223Ter)
c.3600T>A (p.Cys1200Ter)
 gnomAD v4
6g.33164934C>ACA363617708COL11A2n.587G>T
c.4781G>T (p.Cys1594Phe)
c.4460G>T (p.Cys1487Phe)
c.4523G>T (p.Cys1508Phe)
n.571G>T
c.3935G>T (p.Cys1312Phe)
c.4067G>T (p.Cys1356Phe)
c.3887G>T (p.Cys1296Phe)
c.3824G>T (p.Cys1275Phe)
c.3668G>T (p.Cys1223Phe)
c.3599G>T (p.Cys1200Phe)
 gnomAD v4
6g.33164934C=CA1619890555COL11A2n.587G=
c.4781G= (p.Cys1594=)
c.4460G= (p.Cys1487=)
c.4523G= (p.Cys1508=)
n.571G=
c.3935G= (p.Cys1312=)
c.4067G= (p.Cys1356=)
c.3887G= (p.Cys1296=)
c.3824G= (p.Cys1275=)
c.3668G= (p.Cys1223=)
c.3599G= (p.Cys1200=)
6g.33164934C>GCA363617709COL11A2n.587G>C
c.4781G>C (p.Cys1594Ser)
c.4460G>C (p.Cys1487Ser)
c.4523G>C (p.Cys1508Ser)
n.571G>C
c.3935G>C (p.Cys1312Ser)
c.4067G>C (p.Cys1356Ser)
c.3887G>C (p.Cys1296Ser)
c.3824G>C (p.Cys1275Ser)
c.3668G>C (p.Cys1223Ser)
c.3599G>C (p.Cys1200Ser)
6g.33164934C>TCA363617712COL11A2n.587G>A
c.4781G>A (p.Cys1594Tyr)
c.4460G>A (p.Cys1487Tyr)
c.4523G>A (p.Cys1508Tyr)
n.571G>A
c.3935G>A (p.Cys1312Tyr)
c.4067G>A (p.Cys1356Tyr)
c.3887G>A (p.Cys1296Tyr)
c.3824G>A (p.Cys1275Tyr)
c.3668G>A (p.Cys1223Tyr)
c.3599G>A (p.Cys1200Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.33164935A=CA1619890562COL11A2n.586T=
c.4780T= (p.Cys1594=)
c.4459T= (p.Cys1487=)
c.4522T= (p.Cys1508=)
n.570T=
c.3934T= (p.Cys1312=)
c.4066T= (p.Cys1356=)
c.3886T= (p.Cys1296=)
c.3823T= (p.Cys1275=)
c.3667T= (p.Cys1223=)
c.3598T= (p.Cys1200=)
6g.33164935A>CCA363617716COL11A2n.586T>G
c.4780T>G (p.Cys1594Gly)
c.4459T>G (p.Cys1487Gly)
c.4522T>G (p.Cys1508Gly)
n.570T>G
c.3934T>G (p.Cys1312Gly)
c.4066T>G (p.Cys1356Gly)
c.3886T>G (p.Cys1296Gly)
c.3823T>G (p.Cys1275Gly)
c.3667T>G (p.Cys1223Gly)
c.3598T>G (p.Cys1200Gly)
 gnomAD v4
6g.33164935A>GCA363617718COL11A2n.586T>C
c.4780T>C (p.Cys1594Arg)
c.4459T>C (p.Cys1487Arg)
c.4522T>C (p.Cys1508Arg)
n.570T>C
c.3934T>C (p.Cys1312Arg)
c.4066T>C (p.Cys1356Arg)
c.3886T>C (p.Cys1296Arg)
c.3823T>C (p.Cys1275Arg)
c.3667T>C (p.Cys1223Arg)
c.3598T>C (p.Cys1200Arg)
 gnomAD v4
6g.33164935A>TCA363617720COL11A2n.586T>A
c.4780T>A (p.Cys1594Ser)
c.4459T>A (p.Cys1487Ser)
c.4522T>A (p.Cys1508Ser)
n.570T>A
c.3934T>A (p.Cys1312Ser)
c.4066T>A (p.Cys1356Ser)
c.3886T>A (p.Cys1296Ser)
c.3823T>A (p.Cys1275Ser)
c.3667T>A (p.Cys1223Ser)
c.3598T>A (p.Cys1200Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.33164936G>ACA449867319COL11A2n.585C>T
c.4779C>T (p.Gly1593=)
c.4458C>T (p.Gly1486=)
c.4521C>T (p.Gly1507=)
n.569C>T
c.3933C>T (p.Gly1311=)
c.4065C>T (p.Gly1355=)
c.3885C>T (p.Gly1295=)
c.3822C>T (p.Gly1274=)
c.3666C>T (p.Gly1222=)
c.3597C>T (p.Gly1199=)
 gnomAD v4
6g.33164936G>CCA449867320COL11A2n.585C>G
c.4779C>G (p.Gly1593=)
c.4458C>G (p.Gly1486=)
c.4521C>G (p.Gly1507=)
n.569C>G
c.3933C>G (p.Gly1311=)
c.4065C>G (p.Gly1355=)
c.3885C>G (p.Gly1295=)
c.3822C>G (p.Gly1274=)
c.3666C>G (p.Gly1222=)
c.3597C>G (p.Gly1199=)
 gnomAD v4
6g.33164936G>TCA449867321COL11A2n.585C>A
c.4779C>A (p.Gly1593=)
c.4458C>A (p.Gly1486=)
c.4521C>A (p.Gly1507=)
n.569C>A
c.3933C>A (p.Gly1311=)
c.4065C>A (p.Gly1355=)
c.3885C>A (p.Gly1295=)
c.3822C>A (p.Gly1274=)
c.3666C>A (p.Gly1222=)
c.3597C>A (p.Gly1199=)
 gnomAD v4
6g.33164937C>ACA363617723COL11A2n.584G>T
c.4778G>T (p.Gly1593Val)
c.4457G>T (p.Gly1486Val)
c.4520G>T (p.Gly1507Val)
n.568G>T
c.3932G>T (p.Gly1311Val)
c.4064G>T (p.Gly1355Val)
c.3884G>T (p.Gly1295Val)
c.3821G>T (p.Gly1274Val)
c.3665G>T (p.Gly1222Val)
c.3596G>T (p.Gly1199Val)
 gnomAD v4
6g.33164937C>GCA363617726COL11A2n.584G>C
c.4778G>C (p.Gly1593Ala)
c.4457G>C (p.Gly1486Ala)
c.4520G>C (p.Gly1507Ala)
n.568G>C
c.3932G>C (p.Gly1311Ala)
c.4064G>C (p.Gly1355Ala)
c.3884G>C (p.Gly1295Ala)
c.3821G>C (p.Gly1274Ala)
c.3665G>C (p.Gly1222Ala)
c.3596G>C (p.Gly1199Ala)
6g.33164937C>TCA363617727COL11A2n.584G>A
c.4778G>A (p.Gly1593Asp)
c.4457G>A (p.Gly1486Asp)
c.4520G>A (p.Gly1507Asp)
n.568G>A
c.3932G>A (p.Gly1311Asp)
c.4064G>A (p.Gly1355Asp)
c.3884G>A (p.Gly1295Asp)
c.3821G>A (p.Gly1274Asp)
c.3665G>A (p.Gly1222Asp)
c.3596G>A (p.Gly1199Asp)
 gnomAD v4
6g.33164938C>ACA363617731COL11A2n.583G>T
c.4777G>T (p.Gly1593Cys)
c.4456G>T (p.Gly1486Cys)
c.4519G>T (p.Gly1507Cys)
n.567G>T
c.3931G>T (p.Gly1311Cys)
c.4063G>T (p.Gly1355Cys)
c.3883G>T (p.Gly1295Cys)
c.3820G>T (p.Gly1274Cys)
c.3664G>T (p.Gly1222Cys)
c.3595G>T (p.Gly1199Cys)
 gnomAD v4
6g.33164938C=CA1619890567COL11A2n.583G=
c.4777G= (p.Gly1593=)
c.4456G= (p.Gly1486=)
c.4519G= (p.Gly1507=)
n.567G=
c.3931G= (p.Gly1311=)
c.4063G= (p.Gly1355=)
c.3883G= (p.Gly1295=)
c.3820G= (p.Gly1274=)
c.3664G= (p.Gly1222=)
c.3595G= (p.Gly1199=)
6g.33164938C>GCA363617750COL11A2n.583G>C
c.4777G>C (p.Gly1593Arg)
c.4456G>C (p.Gly1486Arg)
c.4519G>C (p.Gly1507Arg)
n.567G>C
c.3931G>C (p.Gly1311Arg)
c.4063G>C (p.Gly1355Arg)
c.3883G>C (p.Gly1295Arg)
c.3820G>C (p.Gly1274Arg)
c.3664G>C (p.Gly1222Arg)
c.3595G>C (p.Gly1199Arg)
6g.33164938C>TCA363617747COL11A2n.583G>A
c.4777G>A (p.Gly1593Ser)
c.4456G>A (p.Gly1486Ser)
c.4519G>A (p.Gly1507Ser)
n.567G>A
c.3931G>A (p.Gly1311Ser)
c.4063G>A (p.Gly1355Ser)
c.3883G>A (p.Gly1295Ser)
c.3820G>A (p.Gly1274Ser)
c.3664G>A (p.Gly1222Ser)
c.3595G>A (p.Gly1199Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164939C>ACA363617753COL11A2n.582G>T
c.4776G>T (p.Gln1592His)
c.4455G>T (p.Gln1485His)
c.4518G>T (p.Gln1506His)
n.566G>T
c.3930G>T (p.Gln1310His)
c.4062G>T (p.Gln1354His)
c.3882G>T (p.Gln1294His)
c.3819G>T (p.Gln1273His)
c.3663G>T (p.Gln1221His)
c.3594G>T (p.Gln1198His)
 gnomAD v4
6g.33164939C=CA1619890574COL11A2n.582G=
c.4776G= (p.Gln1592=)
c.4455G= (p.Gln1485=)
c.4518G= (p.Gln1506=)
n.566G=
c.3930G= (p.Gln1310=)
c.4062G= (p.Gln1354=)
c.3882G= (p.Gln1294=)
c.3819G= (p.Gln1273=)
c.3663G= (p.Gln1221=)
c.3594G= (p.Gln1198=)
6g.33164939C>GCA363617755COL11A2n.582G>C
c.4776G>C (p.Gln1592His)
c.4455G>C (p.Gln1485His)
c.4518G>C (p.Gln1506His)
n.566G>C
c.3930G>C (p.Gln1310His)
c.4062G>C (p.Gln1354His)
c.3882G>C (p.Gln1294His)
c.3819G>C (p.Gln1273His)
c.3663G>C (p.Gln1221His)
c.3594G>C (p.Gln1198His)
6g.33164939C>TCA449867322COL11A2n.582G>A
c.4776G>A (p.Gln1592=)
c.4455G>A (p.Gln1485=)
c.4518G>A (p.Gln1506=)
n.566G>A
c.3930G>A (p.Gln1310=)
c.4062G>A (p.Gln1354=)
c.3882G>A (p.Gln1294=)
c.3819G>A (p.Gln1273=)
c.3663G>A (p.Gln1221=)
c.3594G>A (p.Gln1198=)
 dbSNP gnomAD v2
6g.33164940T>ACA363617758COL11A2n.581A>T
c.4775A>T (p.Gln1592Leu)
c.4454A>T (p.Gln1485Leu)
c.4517A>T (p.Gln1506Leu)
n.565A>T
c.3929A>T (p.Gln1310Leu)
c.4061A>T (p.Gln1354Leu)
c.3881A>T (p.Gln1294Leu)
c.3818A>T (p.Gln1273Leu)
c.3662A>T (p.Gln1221Leu)
c.3593A>T (p.Gln1198Leu)
 gnomAD v4 COSMIC
6g.33164940T>CCA363617761COL11A2n.581A>G
c.4775A>G (p.Gln1592Arg)
c.4454A>G (p.Gln1485Arg)
c.4517A>G (p.Gln1506Arg)
n.565A>G
c.3929A>G (p.Gln1310Arg)
c.4061A>G (p.Gln1354Arg)
c.3881A>G (p.Gln1294Arg)
c.3818A>G (p.Gln1273Arg)
c.3662A>G (p.Gln1221Arg)
c.3593A>G (p.Gln1198Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.33164940T>GCA363617763COL11A2n.581A>C
c.4775A>C (p.Gln1592Pro)
c.4454A>C (p.Gln1485Pro)
c.4517A>C (p.Gln1506Pro)
n.565A>C
c.3929A>C (p.Gln1310Pro)
c.4061A>C (p.Gln1354Pro)
c.3881A>C (p.Gln1294Pro)
c.3818A>C (p.Gln1273Pro)
c.3662A>C (p.Gln1221Pro)
c.3593A>C (p.Gln1198Pro)
6g.33164940T=CA1619890578COL11A2n.581A=
c.4775A= (p.Gln1592=)
c.4454A= (p.Gln1485=)
c.4517A= (p.Gln1506=)
n.565A=
c.3929A= (p.Gln1310=)
c.4061A= (p.Gln1354=)
c.3881A= (p.Gln1294=)
c.3818A= (p.Gln1273=)
c.3662A= (p.Gln1221=)
c.3593A= (p.Gln1198=)
6g.33164941G>ACA363617767COL11A2n.580C>T
c.4774C>T (p.Gln1592Ter)
c.4453C>T (p.Gln1485Ter)
c.4516C>T (p.Gln1506Ter)
n.564C>T
c.3928C>T (p.Gln1310Ter)
c.4060C>T (p.Gln1354Ter)
c.3880C>T (p.Gln1294Ter)
c.3817C>T (p.Gln1273Ter)
c.3661C>T (p.Gln1221Ter)
c.3592C>T (p.Gln1198Ter)
 gnomAD v4
6g.33164941G>CCA363617770COL11A2n.580C>G
c.4774C>G (p.Gln1592Glu)
c.4453C>G (p.Gln1485Glu)
c.4516C>G (p.Gln1506Glu)
n.564C>G
c.3928C>G (p.Gln1310Glu)
c.4060C>G (p.Gln1354Glu)
c.3880C>G (p.Gln1294Glu)
c.3817C>G (p.Gln1273Glu)
c.3661C>G (p.Gln1221Glu)
c.3592C>G (p.Gln1198Glu)
 dbSNP gnomAD v2 gnomAD v4
6g.33164941G=CA1619890582COL11A2n.580C=
c.4774C= (p.Gln1592=)
c.4453C= (p.Gln1485=)
c.4516C= (p.Gln1506=)
n.564C=
c.3928C= (p.Gln1310=)
c.4060C= (p.Gln1354=)
c.3880C= (p.Gln1294=)
c.3817C= (p.Gln1273=)
c.3661C= (p.Gln1221=)
c.3592C= (p.Gln1198=)
6g.33164941G>TCA363617772COL11A2n.580C>A
c.4774C>A (p.Gln1592Lys)
c.4453C>A (p.Gln1485Lys)
c.4516C>A (p.Gln1506Lys)
n.564C>A
c.3928C>A (p.Gln1310Lys)
c.4060C>A (p.Gln1354Lys)
c.3880C>A (p.Gln1294Lys)
c.3817C>A (p.Gln1273Lys)
c.3661C>A (p.Gln1221Lys)
c.3592C>A (p.Gln1198Lys)
 gnomAD v4
6g.33164942G>ACA449867323COL11A2n.579C>T
c.4773C>T (p.Asn1591=)
c.4452C>T (p.Asn1484=)
c.4515C>T (p.Asn1505=)
n.563C>T
c.3927C>T (p.Asn1309=)
c.4059C>T (p.Asn1353=)
c.3879C>T (p.Asn1293=)
c.3816C>T (p.Asn1272=)
c.3660C>T (p.Asn1220=)
c.3591C>T (p.Asn1197=)
 ClinVar dbSNP gnomAD v4
6g.33164942G>CCA363617774COL11A2n.579C>G
c.4773C>G (p.Asn1591Lys)
c.4452C>G (p.Asn1484Lys)
c.4515C>G (p.Asn1505Lys)
n.563C>G
c.3927C>G (p.Asn1309Lys)
c.4059C>G (p.Asn1353Lys)
c.3879C>G (p.Asn1293Lys)
c.3816C>G (p.Asn1272Lys)
c.3660C>G (p.Asn1220Lys)
c.3591C>G (p.Asn1197Lys)
6g.33164942G=CA1619890586COL11A2n.579C=
c.4773C= (p.Asn1591=)
c.4452C= (p.Asn1484=)
c.4515C= (p.Asn1505=)
n.563C=
c.3927C= (p.Asn1309=)
c.4059C= (p.Asn1353=)
c.3879C= (p.Asn1293=)
c.3816C= (p.Asn1272=)
c.3660C= (p.Asn1220=)
c.3591C= (p.Asn1197=)
6g.33164942G>TCA363617776COL11A2n.579C>A
c.4773C>A (p.Asn1591Lys)
c.4452C>A (p.Asn1484Lys)
c.4515C>A (p.Asn1505Lys)
n.563C>A
c.3927C>A (p.Asn1309Lys)
c.4059C>A (p.Asn1353Lys)
c.3879C>A (p.Asn1293Lys)
c.3816C>A (p.Asn1272Lys)
c.3660C>A (p.Asn1220Lys)
c.3591C>A (p.Asn1197Lys)
 gnomAD v4
6g.33164943T>ACA363617780COL11A2n.578A>T
c.4772A>T (p.Asn1591Ile)
c.4451A>T (p.Asn1484Ile)
c.4514A>T (p.Asn1505Ile)
n.562A>T
c.3926A>T (p.Asn1309Ile)
c.4058A>T (p.Asn1353Ile)
c.3878A>T (p.Asn1293Ile)
c.3815A>T (p.Asn1272Ile)
c.3659A>T (p.Asn1220Ile)
c.3590A>T (p.Asn1197Ile)
 gnomAD v4
6g.33164943T>CCA363617783COL11A2n.578A>G
c.4772A>G (p.Asn1591Ser)
c.4451A>G (p.Asn1484Ser)
c.4514A>G (p.Asn1505Ser)
n.562A>G
c.3926A>G (p.Asn1309Ser)
c.4058A>G (p.Asn1353Ser)
c.3878A>G (p.Asn1293Ser)
c.3815A>G (p.Asn1272Ser)
c.3659A>G (p.Asn1220Ser)
c.3590A>G (p.Asn1197Ser)
 gnomAD v4
6g.33164943T>GCA363617785COL11A2n.578A>C
c.4772A>C (p.Asn1591Thr)
c.4451A>C (p.Asn1484Thr)
c.4514A>C (p.Asn1505Thr)
n.562A>C
c.3926A>C (p.Asn1309Thr)
c.4058A>C (p.Asn1353Thr)
c.3878A>C (p.Asn1293Thr)
c.3815A>C (p.Asn1272Thr)
c.3659A>C (p.Asn1220Thr)
c.3590A>C (p.Asn1197Thr)
6g.33164944delCA2678226389COL11A2n.578del
c.4772del (p.Asn1591ThrfsTer23)
c.4451del (p.Asn1484ThrfsTer23)
c.4514del (p.Asn1505ThrfsTer23)
n.562del
c.3926del (p.Asn1309ThrfsTer23)
c.4058del (p.Asn1353ThrfsTer23)
c.3878del (p.Asn1293ThrfsTer23)
c.3815del (p.Asn1272ThrfsTer23)
c.3659del (p.Asn1220ThrfsTer23)
c.3590del (p.Asn1197ThrfsTer23)
 gnomAD v4
6g.33164944T>ACA363617790COL11A2n.577A>T
c.4771A>T (p.Asn1591Tyr)
c.4450A>T (p.Asn1484Tyr)
c.4513A>T (p.Asn1505Tyr)
n.561A>T
c.3925A>T (p.Asn1309Tyr)
c.4057A>T (p.Asn1353Tyr)
c.3877A>T (p.Asn1293Tyr)
c.3814A>T (p.Asn1272Tyr)
c.3658A>T (p.Asn1220Tyr)
c.3589A>T (p.Asn1197Tyr)
6g.33164944T>CCA363617794COL11A2n.577A>G
c.4771A>G (p.Asn1591Asp)
c.4450A>G (p.Asn1484Asp)
c.4513A>G (p.Asn1505Asp)
n.561A>G
c.3925A>G (p.Asn1309Asp)
c.4057A>G (p.Asn1353Asp)
c.3877A>G (p.Asn1293Asp)
c.3814A>G (p.Asn1272Asp)
c.3658A>G (p.Asn1220Asp)
c.3589A>G (p.Asn1197Asp)
 gnomAD v4
6g.33164944T>GCA363617793COL11A2n.577A>C
c.4771A>C (p.Asn1591His)
c.4450A>C (p.Asn1484His)
c.4513A>C (p.Asn1505His)
n.561A>C
c.3925A>C (p.Asn1309His)
c.4057A>C (p.Asn1353His)
c.3877A>C (p.Asn1293His)
c.3814A>C (p.Asn1272His)
c.3658A>C (p.Asn1220His)
c.3589A>C (p.Asn1197His)
6g.33164945G>ACA3749996COL11A2n.576C>T
c.4770C>T (p.Pro1590=)
c.4449C>T (p.Pro1483=)
c.4512C>T (p.Pro1504=)
n.560C>T
c.3924C>T (p.Pro1308=)
c.4056C>T (p.Pro1352=)
c.3876C>T (p.Pro1292=)
c.3813C>T (p.Pro1271=)
c.3657C>T (p.Pro1219=)
c.3588C>T (p.Pro1196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164945G>CCA449867325COL11A2n.576C>G
c.4770C>G (p.Pro1590=)
c.4449C>G (p.Pro1483=)
c.4512C>G (p.Pro1504=)
n.560C>G
c.3924C>G (p.Pro1308=)
c.4056C>G (p.Pro1352=)
c.3876C>G (p.Pro1292=)
c.3813C>G (p.Pro1271=)
c.3657C>G (p.Pro1219=)
c.3588C>G (p.Pro1196=)
6g.33164945G=CA1619890590COL11A2n.576C=
c.4770C= (p.Pro1590=)
c.4449C= (p.Pro1483=)
c.4512C= (p.Pro1504=)
n.560C=
c.3924C= (p.Pro1308=)
c.4056C= (p.Pro1352=)
c.3876C= (p.Pro1292=)
c.3813C= (p.Pro1271=)
c.3657C= (p.Pro1219=)
c.3588C= (p.Pro1196=)
6g.33164945G>TCA449867324COL11A2n.576C>A
c.4770C>A (p.Pro1590=)
c.4449C>A (p.Pro1483=)
c.4512C>A (p.Pro1504=)
n.560C>A
c.3924C>A (p.Pro1308=)
c.4056C>A (p.Pro1352=)
c.3876C>A (p.Pro1292=)
c.3813C>A (p.Pro1271=)
c.3657C>A (p.Pro1219=)
c.3588C>A (p.Pro1196=)
 gnomAD v4
6g.33164948delCA2678226393COL11A2n.576del
c.4770del (p.Asn1591ThrfsTer23)
c.4449del (p.Asn1484ThrfsTer23)
c.4512del (p.Asn1505ThrfsTer23)
n.560del
c.3924del (p.Asn1309ThrfsTer23)
c.4056del (p.Asn1353ThrfsTer23)
c.3876del (p.Asn1293ThrfsTer23)
c.3813del (p.Asn1272ThrfsTer23)
c.3657del (p.Asn1220ThrfsTer23)
c.3588del (p.Asn1197ThrfsTer23)
 gnomAD v4
6g.33164946G>ACA363617800COL11A2n.575C>T
c.4769C>T (p.Pro1590Leu)
c.4448C>T (p.Pro1483Leu)
c.4511C>T (p.Pro1504Leu)
n.559C>T
c.3923C>T (p.Pro1308Leu)
c.4055C>T (p.Pro1352Leu)
c.3875C>T (p.Pro1292Leu)
c.3812C>T (p.Pro1271Leu)
c.3656C>T (p.Pro1219Leu)
c.3587C>T (p.Pro1196Leu)
 gnomAD v4
6g.33164946G>CCA363617803COL11A2n.575C>G
c.4769C>G (p.Pro1590Arg)
c.4448C>G (p.Pro1483Arg)
c.4511C>G (p.Pro1504Arg)
n.559C>G
c.3923C>G (p.Pro1308Arg)
c.4055C>G (p.Pro1352Arg)
c.3875C>G (p.Pro1292Arg)
c.3812C>G (p.Pro1271Arg)
c.3656C>G (p.Pro1219Arg)
c.3587C>G (p.Pro1196Arg)
6g.33164946G>TCA363617806COL11A2n.575C>A
c.4769C>A (p.Pro1590His)
c.4448C>A (p.Pro1483His)
c.4511C>A (p.Pro1504His)
n.559C>A
c.3923C>A (p.Pro1308His)
c.4055C>A (p.Pro1352His)
c.3875C>A (p.Pro1292His)
c.3812C>A (p.Pro1271His)
c.3656C>A (p.Pro1219His)
c.3587C>A (p.Pro1196His)
 gnomAD v4
6g.33164947G>ACA363617808COL11A2n.574C>T
c.4768C>T (p.Pro1590Ser)
c.4447C>T (p.Pro1483Ser)
c.4510C>T (p.Pro1504Ser)
n.558C>T
c.3922C>T (p.Pro1308Ser)
c.4054C>T (p.Pro1352Ser)
c.3874C>T (p.Pro1292Ser)
c.3811C>T (p.Pro1271Ser)
c.3655C>T (p.Pro1219Ser)
c.3586C>T (p.Pro1196Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.33164947G>CCA363617810COL11A2n.574C>G
c.4768C>G (p.Pro1590Ala)
c.4447C>G (p.Pro1483Ala)
c.4510C>G (p.Pro1504Ala)
n.558C>G
c.3922C>G (p.Pro1308Ala)
c.4054C>G (p.Pro1352Ala)
c.3874C>G (p.Pro1292Ala)
c.3811C>G (p.Pro1271Ala)
c.3655C>G (p.Pro1219Ala)
c.3586C>G (p.Pro1196Ala)
6g.33164947G=CA1619890595COL11A2n.574C=
c.4768C= (p.Pro1590=)
c.4447C= (p.Pro1483=)
c.4510C= (p.Pro1504=)
n.558C=
c.3922C= (p.Pro1308=)
c.4054C= (p.Pro1352=)
c.3874C= (p.Pro1292=)
c.3811C= (p.Pro1271=)
c.3655C= (p.Pro1219=)
c.3586C= (p.Pro1196=)
6g.33164947G>TCA363617812COL11A2n.574C>A
c.4768C>A (p.Pro1590Thr)
c.4447C>A (p.Pro1483Thr)
c.4510C>A (p.Pro1504Thr)
n.558C>A
c.3922C>A (p.Pro1308Thr)
c.4054C>A (p.Pro1352Thr)
c.3874C>A (p.Pro1292Thr)
c.3811C>A (p.Pro1271Thr)
c.3655C>A (p.Pro1219Thr)
c.3586C>A (p.Pro1196Thr)
 gnomAD v4 COSMIC
6g.33164948G>ACA10606444COL11A2n.573C>T
c.4767C>T (p.Asp1589=)
c.4446C>T (p.Asp1482=)
c.4509C>T (p.Asp1503=)
n.557C>T
c.3921C>T (p.Asp1307=)
c.4053C>T (p.Asp1351=)
c.3873C>T (p.Asp1291=)
c.3810C>T (p.Asp1270=)
c.3654C>T (p.Asp1218=)
c.3585C>T (p.Asp1195=)
 ClinVar dbSNP gnomAD v4
6g.33164948G>CCA363617817COL11A2n.573C>G
c.4767C>G (p.Asp1589Glu)
c.4446C>G (p.Asp1482Glu)
c.4509C>G (p.Asp1503Glu)
n.557C>G
c.3921C>G (p.Asp1307Glu)
c.4053C>G (p.Asp1351Glu)
c.3873C>G (p.Asp1291Glu)
c.3810C>G (p.Asp1270Glu)
c.3654C>G (p.Asp1218Glu)
c.3585C>G (p.Asp1195Glu)
 gnomAD v4
6g.33164948G=CA1619890602COL11A2n.573C=
c.4767C= (p.Asp1589=)
c.4446C= (p.Asp1482=)
c.4509C= (p.Asp1503=)
n.557C=
c.3921C= (p.Asp1307=)
c.4053C= (p.Asp1351=)
c.3873C= (p.Asp1291=)
c.3810C= (p.Asp1270=)
c.3654C= (p.Asp1218=)
c.3585C= (p.Asp1195=)
6g.33164948G>TCA363617820COL11A2n.573C>A
c.4767C>A (p.Asp1589Glu)
c.4446C>A (p.Asp1482Glu)
c.4509C>A (p.Asp1503Glu)
n.557C>A
c.3921C>A (p.Asp1307Glu)
c.4053C>A (p.Asp1351Glu)
c.3873C>A (p.Asp1291Glu)
c.3810C>A (p.Asp1270Glu)
c.3654C>A (p.Asp1218Glu)
c.3585C>A (p.Asp1195Glu)
 gnomAD v4
6g.33164949T>ACA363617825COL11A2n.572A>T
c.4766A>T (p.Asp1589Val)
c.4445A>T (p.Asp1482Val)
c.4508A>T (p.Asp1503Val)
n.556A>T
c.3920A>T (p.Asp1307Val)
c.4052A>T (p.Asp1351Val)
c.3872A>T (p.Asp1291Val)
c.3809A>T (p.Asp1270Val)
c.3653A>T (p.Asp1218Val)
c.3584A>T (p.Asp1195Val)
 gnomAD v4
6g.33164949T>CCA363617828COL11A2n.572A>G
c.4766A>G (p.Asp1589Gly)
c.4445A>G (p.Asp1482Gly)
c.4508A>G (p.Asp1503Gly)
n.556A>G
c.3920A>G (p.Asp1307Gly)
c.4052A>G (p.Asp1351Gly)
c.3872A>G (p.Asp1291Gly)
c.3809A>G (p.Asp1270Gly)
c.3653A>G (p.Asp1218Gly)
c.3584A>G (p.Asp1195Gly)
 ClinVar gnomAD v4
6g.33164949T>GCA363617822COL11A2n.572A>C
c.4766A>C (p.Asp1589Ala)
c.4445A>C (p.Asp1482Ala)
c.4508A>C (p.Asp1503Ala)
n.556A>C
c.3920A>C (p.Asp1307Ala)
c.4052A>C (p.Asp1351Ala)
c.3872A>C (p.Asp1291Ala)
c.3809A>C (p.Asp1270Ala)
c.3653A>C (p.Asp1218Ala)
c.3584A>C (p.Asp1195Ala)
6g.33164950delCA2678226407COL11A2n.571del
c.4765del (p.Asp1589ThrfsTer25)
c.4444del (p.Asp1482ThrfsTer25)
c.4507del (p.Asp1503ThrfsTer25)
n.555del
c.3919del (p.Asp1307ThrfsTer25)
c.4051del (p.Asp1351ThrfsTer25)
c.3871del (p.Asp1291ThrfsTer25)
c.3808del (p.Asp1270ThrfsTer25)
c.3652del (p.Asp1218ThrfsTer25)
c.3583del (p.Asp1195ThrfsTer25)
 gnomAD v4
6g.33164950C>ACA363617837COL11A2n.571G>T
c.4765G>T (p.Asp1589Tyr)
c.4444G>T (p.Asp1482Tyr)
c.4507G>T (p.Asp1503Tyr)
n.555G>T
c.3919G>T (p.Asp1307Tyr)
c.4051G>T (p.Asp1351Tyr)
c.3871G>T (p.Asp1291Tyr)
c.3808G>T (p.Asp1270Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3583G>T (p.Asp1195Tyr)
 gnomAD v4
6g.33164950C=CA1619890609COL11A2n.571G=
c.4765G= (p.Asp1589=)
c.4444G= (p.Asp1482=)
c.4507G= (p.Asp1503=)
n.555G=
c.3919G= (p.Asp1307=)
c.4051G= (p.Asp1351=)
c.3871G= (p.Asp1291=)
c.3808G= (p.Asp1270=)
c.3652G= (p.Asp1218=)
c.3583G= (p.Asp1195=)
6g.33164950C>GCA363617832COL11A2n.571G>C
c.4765G>C (p.Asp1589His)
c.4444G>C (p.Asp1482His)
c.4507G>C (p.Asp1503His)
n.555G>C
c.3919G>C (p.Asp1307His)
c.4051G>C (p.Asp1351His)
c.3871G>C (p.Asp1291His)
c.3808G>C (p.Asp1270His)
c.3652G>C (p.Asp1218His)
c.3583G>C (p.Asp1195His)
 gnomAD v4
6g.33164950C>TCA363617835COL11A2n.571G>A
c.4765G>A (p.Asp1589Asn)
c.4444G>A (p.Asp1482Asn)
c.4507G>A (p.Asp1503Asn)
n.555G>A
c.3919G>A (p.Asp1307Asn)
c.4051G>A (p.Asp1351Asn)
c.3871G>A (p.Asp1291Asn)
c.3808G>A (p.Asp1270Asn)
c.3652G>A (p.Asp1218Asn)
c.3583G>A (p.Asp1195Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.33164951G>ACA3749997COL11A2n.570C>T
c.4764C>T (p.Val1588=)
c.4443C>T (p.Val1481=)
c.4506C>T (p.Val1502=)
n.554C>T
c.3918C>T (p.Val1306=)
c.4050C>T (p.Val1350=)
c.3870C>T (p.Val1290=)
c.3807C>T (p.Val1269=)
c.3651C>T (p.Val1217=)
c.3582C>T (p.Val1194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164951G>CCA449867326COL11A2n.570C>G
c.4764C>G (p.Val1588=)
c.4443C>G (p.Val1481=)
c.4506C>G (p.Val1502=)
n.554C>G
c.3918C>G (p.Val1306=)
c.4050C>G (p.Val1350=)
c.3870C>G (p.Val1290=)
c.3807C>G (p.Val1269=)
c.3651C>G (p.Val1217=)
c.3582C>G (p.Val1194=)
 ClinVar gnomAD v4
6g.33164951G=CA1619890613COL11A2n.570C=
c.4764C= (p.Val1588=)
c.4443C= (p.Val1481=)
c.4506C= (p.Val1502=)
n.554C=
c.3918C= (p.Val1306=)
c.4050C= (p.Val1350=)
c.3870C= (p.Val1290=)
c.3807C= (p.Val1269=)
c.3651C= (p.Val1217=)
c.3582C= (p.Val1194=)
6g.33164951G>TCA449867327COL11A2n.570C>A
c.4764C>A (p.Val1588=)
c.4443C>A (p.Val1481=)
c.4506C>A (p.Val1502=)
n.554C>A
c.3918C>A (p.Val1306=)
c.4050C>A (p.Val1350=)
c.3870C>A (p.Val1290=)
c.3807C>A (p.Val1269=)
c.3651C>A (p.Val1217=)
c.3582C>A (p.Val1194=)
 gnomAD v4
6g.33164952A=CA1619890619COL11A2n.569T=
c.4763T= (p.Val1588=)
c.4442T= (p.Val1481=)
c.4505T= (p.Val1502=)
n.553T=
c.3917T= (p.Val1306=)
c.4049T= (p.Val1350=)
c.3869T= (p.Val1290=)
c.3806T= (p.Val1269=)
c.3650T= (p.Val1217=)
c.3581T= (p.Val1194=)
6g.33164952A>CCA363617843COL11A2n.569T>G
c.4763T>G (p.Val1588Gly)
c.4442T>G (p.Val1481Gly)
c.4505T>G (p.Val1502Gly)
n.553T>G
c.3917T>G (p.Val1306Gly)
c.4049T>G (p.Val1350Gly)
c.3869T>G (p.Val1290Gly)
c.3806T>G (p.Val1269Gly)
c.3650T>G (p.Val1217Gly)
c.3581T>G (p.Val1194Gly)
6g.33164952A>GCA363617846COL11A2n.569T>C
c.4763T>C (p.Val1588Ala)
c.4442T>C (p.Val1481Ala)
c.4505T>C (p.Val1502Ala)
n.553T>C
c.3917T>C (p.Val1306Ala)
c.4049T>C (p.Val1350Ala)
c.3869T>C (p.Val1290Ala)
c.3806T>C (p.Val1269Ala)
c.3650T>C (p.Val1217Ala)
c.3581T>C (p.Val1194Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.33164952A>TCA363617848COL11A2n.569T>A
c.4763T>A (p.Val1588Asp)
c.4442T>A (p.Val1481Asp)
c.4505T>A (p.Val1502Asp)
n.553T>A
c.3917T>A (p.Val1306Asp)
c.4049T>A (p.Val1350Asp)
c.3869T>A (p.Val1290Asp)
c.3806T>A (p.Val1269Asp)
c.3650T>A (p.Val1217Asp)
c.3581T>A (p.Val1194Asp)

Number of alleles fetched