Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33164428G>ACA363616475COL11A2n.715C>T
c.4909C>T (p.Leu1637Phe)
c.4588C>T (p.Leu1530Phe)
c.4651C>T (p.Leu1551Phe)
n.699C>T
c.4063C>T (p.Leu1355Phe)
c.4195C>T (p.Leu1399Phe)
c.4015C>T (p.Leu1339Phe)
c.3952C>T (p.Leu1318Phe)
c.3796C>T (p.Leu1266Phe)
c.3727C>T (p.Leu1243Phe)
 gnomAD v4
6g.33164428G>CCA363616478COL11A2n.715C>G
c.4909C>G (p.Leu1637Val)
c.4588C>G (p.Leu1530Val)
c.4651C>G (p.Leu1551Val)
n.699C>G
c.4063C>G (p.Leu1355Val)
c.4195C>G (p.Leu1399Val)
c.4015C>G (p.Leu1339Val)
c.3952C>G (p.Leu1318Val)
c.3796C>G (p.Leu1266Val)
c.3727C>G (p.Leu1243Val)
 dbSNP gnomAD v2
6g.33164428G=CA1619889826COL11A2n.715C=
c.4909C= (p.Leu1637=)
c.4588C= (p.Leu1530=)
c.4651C= (p.Leu1551=)
n.699C=
c.4063C= (p.Leu1355=)
c.4195C= (p.Leu1399=)
c.4015C= (p.Leu1339=)
c.3952C= (p.Leu1318=)
c.3796C= (p.Leu1266=)
c.3727C= (p.Leu1243=)
6g.33164428G>TCA363616481COL11A2n.715C>A
c.4909C>A (p.Leu1637Ile)
c.4588C>A (p.Leu1530Ile)
c.4651C>A (p.Leu1551Ile)
n.699C>A
c.4063C>A (p.Leu1355Ile)
c.4195C>A (p.Leu1399Ile)
c.4015C>A (p.Leu1339Ile)
c.3952C>A (p.Leu1318Ile)
c.3796C>A (p.Leu1266Ile)
c.3727C>A (p.Leu1243Ile)
6g.33164429C>ACA363616483COL11A2n.714G>T
c.4908G>T (p.Gln1636His)
c.4587G>T (p.Gln1529His)
c.4650G>T (p.Gln1550His)
n.698G>T
c.4062G>T (p.Gln1354His)
c.4194G>T (p.Gln1398His)
c.4014G>T (p.Gln1338His)
c.3951G>T (p.Gln1317His)
c.3795G>T (p.Gln1265His)
c.3726G>T (p.Gln1242His)
 gnomAD v4
6g.33164429C=CA1619889829COL11A2n.714G=
c.4908G= (p.Gln1636=)
c.4587G= (p.Gln1529=)
c.4650G= (p.Gln1550=)
n.698G=
c.4062G= (p.Gln1354=)
c.4194G= (p.Gln1398=)
c.4014G= (p.Gln1338=)
c.3951G= (p.Gln1317=)
c.3795G= (p.Gln1265=)
c.3726G= (p.Gln1242=)
6g.33164429C>GCA363616486COL11A2n.714G>C
c.4908G>C (p.Gln1636His)
c.4587G>C (p.Gln1529His)
c.4650G>C (p.Gln1550His)
n.698G>C
c.4062G>C (p.Gln1354His)
c.4194G>C (p.Gln1398His)
c.4014G>C (p.Gln1338His)
c.3951G>C (p.Gln1317His)
c.3795G>C (p.Gln1265His)
c.3726G>C (p.Gln1242His)
6g.33164429C>TCA449867055COL11A2n.714G>A
c.4908G>A (p.Gln1636=)
c.4587G>A (p.Gln1529=)
c.4650G>A (p.Gln1550=)
n.698G>A
c.4062G>A (p.Gln1354=)
c.4194G>A (p.Gln1398=)
c.4014G>A (p.Gln1338=)
c.3951G>A (p.Gln1317=)
c.3795G>A (p.Gln1265=)
c.3726G>A (p.Gln1242=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164430T>ACA363616493COL11A2n.713A>T
c.4907A>T (p.Gln1636Leu)
c.4586A>T (p.Gln1529Leu)
c.4649A>T (p.Gln1550Leu)
n.697A>T
c.4061A>T (p.Gln1354Leu)
c.4193A>T (p.Gln1398Leu)
c.4013A>T (p.Gln1338Leu)
c.3950A>T (p.Gln1317Leu)
c.3794A>T (p.Gln1265Leu)
c.3725A>T (p.Gln1242Leu)
6g.33164430T>CCA363616490COL11A2n.713A>G
c.4907A>G (p.Gln1636Arg)
c.4586A>G (p.Gln1529Arg)
c.4649A>G (p.Gln1550Arg)
n.697A>G
c.4061A>G (p.Gln1354Arg)
c.4193A>G (p.Gln1398Arg)
c.4013A>G (p.Gln1338Arg)
c.3950A>G (p.Gln1317Arg)
c.3794A>G (p.Gln1265Arg)
c.3725A>G (p.Gln1242Arg)
 dbSNP
6g.33164430T>GCA363616488COL11A2n.713A>C
c.4907A>C (p.Gln1636Pro)
c.4586A>C (p.Gln1529Pro)
c.4649A>C (p.Gln1550Pro)
n.697A>C
c.4061A>C (p.Gln1354Pro)
c.4193A>C (p.Gln1398Pro)
c.4013A>C (p.Gln1338Pro)
c.3950A>C (p.Gln1317Pro)
c.3794A>C (p.Gln1265Pro)
c.3725A>C (p.Gln1242Pro)
6g.33164430T=CA1619889831COL11A2n.713A=
c.4907A= (p.Gln1636=)
c.4586A= (p.Gln1529=)
c.4649A= (p.Gln1550=)
n.697A=
c.4061A= (p.Gln1354=)
c.4193A= (p.Gln1398=)
c.4013A= (p.Gln1338=)
c.3950A= (p.Gln1317=)
c.3794A= (p.Gln1265=)
c.3725A= (p.Gln1242=)
6g.33164431G>ACA363616497COL11A2n.712C>T
c.4906C>T (p.Gln1636Ter)
c.4585C>T (p.Gln1529Ter)
c.4648C>T (p.Gln1550Ter)
n.696C>T
c.4060C>T (p.Gln1354Ter)
c.4192C>T (p.Gln1398Ter)
c.4012C>T (p.Gln1338Ter)
c.3949C>T (p.Gln1317Ter)
c.3793C>T (p.Gln1265Ter)
c.3724C>T (p.Gln1242Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.33164431G>CCA363616495COL11A2n.712C>G
c.4906C>G (p.Gln1636Glu)
c.4585C>G (p.Gln1529Glu)
c.4648C>G (p.Gln1550Glu)
n.696C>G
c.4060C>G (p.Gln1354Glu)
c.4192C>G (p.Gln1398Glu)
c.4012C>G (p.Gln1338Glu)
c.3949C>G (p.Gln1317Glu)
c.3793C>G (p.Gln1265Glu)
c.3724C>G (p.Gln1242Glu)
6g.33164431G=CA1619889833COL11A2n.712C=
c.4906C= (p.Gln1636=)
c.4585C= (p.Gln1529=)
c.4648C= (p.Gln1550=)
n.696C=
c.4060C= (p.Gln1354=)
c.4192C= (p.Gln1398=)
c.4012C= (p.Gln1338=)
c.3949C= (p.Gln1317=)
c.3793C= (p.Gln1265=)
c.3724C= (p.Gln1242=)
6g.33164431G>TCA363616500COL11A2n.712C>A
c.4906C>A (p.Gln1636Lys)
c.4585C>A (p.Gln1529Lys)
c.4648C>A (p.Gln1550Lys)
n.696C>A
c.4060C>A (p.Gln1354Lys)
c.4192C>A (p.Gln1398Lys)
c.4012C>A (p.Gln1338Lys)
c.3949C>A (p.Gln1317Lys)
c.3793C>A (p.Gln1265Lys)
c.3724C>A (p.Gln1242Lys)
 gnomAD v4
6g.33164432G>ACA449867056COL11A2n.711C>T
c.4905C>T (p.Val1635=)
c.4584C>T (p.Val1528=)
c.4647C>T (p.Val1549=)
n.695C>T
c.4059C>T (p.Val1353=)
c.4191C>T (p.Val1397=)
c.4011C>T (p.Val1337=)
c.3948C>T (p.Val1316=)
c.3792C>T (p.Val1264=)
c.3723C>T (p.Val1241=)
 gnomAD v4
6g.33164432G>CCA449867057COL11A2n.711C>G
c.4905C>G (p.Val1635=)
c.4584C>G (p.Val1528=)
c.4647C>G (p.Val1549=)
n.695C>G
c.4059C>G (p.Val1353=)
c.4191C>G (p.Val1397=)
c.4011C>G (p.Val1337=)
c.3948C>G (p.Val1316=)
c.3792C>G (p.Val1264=)
c.3723C>G (p.Val1241=)
6g.33164432G>TCA449867058COL11A2n.711C>A
c.4905C>A (p.Val1635=)
c.4584C>A (p.Val1528=)
c.4647C>A (p.Val1549=)
n.695C>A
c.4059C>A (p.Val1353=)
c.4191C>A (p.Val1397=)
c.4011C>A (p.Val1337=)
c.3948C>A (p.Val1316=)
c.3792C>A (p.Val1264=)
c.3723C>A (p.Val1241=)
 gnomAD v4
6g.33164433A=CA1619889834COL11A2n.710T=
c.4904T= (p.Val1635=)
c.4583T= (p.Val1528=)
c.4646T= (p.Val1549=)
n.694T=
c.4058T= (p.Val1353=)
c.4190T= (p.Val1397=)
c.4010T= (p.Val1337=)
c.3947T= (p.Val1316=)
c.3791T= (p.Val1264=)
c.3722T= (p.Val1241=)
6g.33164433A>CCA363616502COL11A2n.710T>G
c.4904T>G (p.Val1635Gly)
c.4583T>G (p.Val1528Gly)
c.4646T>G (p.Val1549Gly)
n.694T>G
c.4058T>G (p.Val1353Gly)
c.4190T>G (p.Val1397Gly)
c.4010T>G (p.Val1337Gly)
c.3947T>G (p.Val1316Gly)
c.3791T>G (p.Val1264Gly)
c.3722T>G (p.Val1241Gly)
6g.33164433A>GCA363616504COL11A2n.710T>C
c.4904T>C (p.Val1635Ala)
c.4583T>C (p.Val1528Ala)
c.4646T>C (p.Val1549Ala)
n.694T>C
c.4058T>C (p.Val1353Ala)
c.4190T>C (p.Val1397Ala)
c.4010T>C (p.Val1337Ala)
c.3947T>C (p.Val1316Ala)
c.3791T>C (p.Val1264Ala)
c.3722T>C (p.Val1241Ala)
 dbSNP
6g.33164433A>TCA363616505COL11A2n.710T>A
c.4904T>A (p.Val1635Asp)
c.4583T>A (p.Val1528Asp)
c.4646T>A (p.Val1549Asp)
n.694T>A
c.4058T>A (p.Val1353Asp)
c.4190T>A (p.Val1397Asp)
c.4010T>A (p.Val1337Asp)
c.3947T>A (p.Val1316Asp)
c.3791T>A (p.Val1264Asp)
c.3722T>A (p.Val1241Asp)
 gnomAD v4
6g.33164434C>ACA363616508COL11A2n.709G>T
c.4903G>T (p.Val1635Phe)
c.4582G>T (p.Val1528Phe)
c.4645G>T (p.Val1549Phe)
n.693G>T
c.4057G>T (p.Val1353Phe)
c.4189G>T (p.Val1397Phe)
c.4009G>T (p.Val1337Phe)
c.3946G>T (p.Val1316Phe)
c.3790G>T (p.Val1264Phe)
c.3721G>T (p.Val1241Phe)
 gnomAD v4
6g.33164434C=CA1619889836COL11A2n.709G=
c.4903G= (p.Val1635=)
c.4582G= (p.Val1528=)
c.4645G= (p.Val1549=)
n.693G=
c.4057G= (p.Val1353=)
c.4189G= (p.Val1397=)
c.4009G= (p.Val1337=)
c.3946G= (p.Val1316=)
c.3790G= (p.Val1264=)
c.3721G= (p.Val1241=)
6g.33164434C>GCA363616511COL11A2n.709G>C
c.4903G>C (p.Val1635Leu)
c.4582G>C (p.Val1528Leu)
c.4645G>C (p.Val1549Leu)
n.693G>C
c.4057G>C (p.Val1353Leu)
c.4189G>C (p.Val1397Leu)
c.4009G>C (p.Val1337Leu)
c.3946G>C (p.Val1316Leu)
c.3790G>C (p.Val1264Leu)
c.3721G>C (p.Val1241Leu)
 gnomAD v4
6g.33164434C>TCA363616514COL11A2n.709G>A
c.4903G>A (p.Val1635Ile)
c.4582G>A (p.Val1528Ile)
c.4645G>A (p.Val1549Ile)
n.693G>A
c.4057G>A (p.Val1353Ile)
c.4189G>A (p.Val1397Ile)
c.4009G>A (p.Val1337Ile)
c.3946G>A (p.Val1316Ile)
c.3790G>A (p.Val1264Ile)
c.3721G>A (p.Val1241Ile)
 dbSNP gnomAD v2
6g.33164435delCA2678226373COL11A2n.709del
c.4903del (p.Val1635SerfsTer30)
c.4582del (p.Val1528SerfsTer30)
c.4645del (p.Val1549SerfsTer30)
n.693del
c.4057del (p.Val1353SerfsTer30)
c.4189del (p.Val1397SerfsTer30)
c.4009del (p.Val1337SerfsTer30)
c.3946del (p.Val1316SerfsTer30)
c.3790del (p.Val1264SerfsTer30)
c.3721del (p.Val1241SerfsTer30)
 gnomAD v4
6g.33164435C>ACA449867059COL11A2n.708G>T
c.4902G>T (p.Val1634=)
c.4581G>T (p.Val1527=)
c.4644G>T (p.Val1548=)
n.692G>T
c.4056G>T (p.Val1352=)
c.4188G>T (p.Val1396=)
c.4008G>T (p.Val1336=)
c.3945G>T (p.Val1315=)
c.3789G>T (p.Val1263=)
c.3720G>T (p.Val1240=)
 gnomAD v4
6g.33164435C>GCA449867060COL11A2n.708G>C
c.4902G>C (p.Val1634=)
c.4581G>C (p.Val1527=)
c.4644G>C (p.Val1548=)
n.692G>C
c.4056G>C (p.Val1352=)
c.4188G>C (p.Val1396=)
c.4008G>C (p.Val1336=)
c.3945G>C (p.Val1315=)
c.3789G>C (p.Val1263=)
c.3720G>C (p.Val1240=)
6g.33164435C>TCA449867061COL11A2n.708G>A
c.4902G>A (p.Val1634=)
c.4581G>A (p.Val1527=)
c.4644G>A (p.Val1548=)
n.692G>A
c.4056G>A (p.Val1352=)
c.4188G>A (p.Val1396=)
c.4008G>A (p.Val1336=)
c.3945G>A (p.Val1315=)
c.3789G>A (p.Val1263=)
c.3720G>A (p.Val1240=)
 ClinVar
6g.33164436A=CA1619889838COL11A2n.707T=
c.4901T= (p.Val1634=)
c.4580T= (p.Val1527=)
c.4643T= (p.Val1548=)
n.691T=
c.4055T= (p.Val1352=)
c.4187T= (p.Val1396=)
c.4007T= (p.Val1336=)
c.3944T= (p.Val1315=)
c.3788T= (p.Val1263=)
c.3719T= (p.Val1240=)
6g.33164436A>CCA363616515COL11A2n.707T>G
c.4901T>G (p.Val1634Gly)
c.4580T>G (p.Val1527Gly)
c.4643T>G (p.Val1548Gly)
n.691T>G
c.4055T>G (p.Val1352Gly)
c.4187T>G (p.Val1396Gly)
c.4007T>G (p.Val1336Gly)
c.3944T>G (p.Val1315Gly)
c.3788T>G (p.Val1263Gly)
c.3719T>G (p.Val1240Gly)
6g.33164436A>GCA363616517COL11A2n.707T>C
c.4901T>C (p.Val1634Ala)
c.4580T>C (p.Val1527Ala)
c.4643T>C (p.Val1548Ala)
n.691T>C
c.4055T>C (p.Val1352Ala)
c.4187T>C (p.Val1396Ala)
c.4007T>C (p.Val1336Ala)
c.3944T>C (p.Val1315Ala)
c.3788T>C (p.Val1263Ala)
c.3719T>C (p.Val1240Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.33164436A>TCA363616518COL11A2n.707T>A
c.4901T>A (p.Val1634Glu)
c.4580T>A (p.Val1527Glu)
c.4643T>A (p.Val1548Glu)
n.691T>A
c.4055T>A (p.Val1352Glu)
c.4187T>A (p.Val1396Glu)
c.4007T>A (p.Val1336Glu)
c.3944T>A (p.Val1315Glu)
c.3788T>A (p.Val1263Glu)
c.3719T>A (p.Val1240Glu)
6g.33164437C>ACA363616520COL11A2n.706G>T
c.4900G>T (p.Val1634Leu)
c.4579G>T (p.Val1527Leu)
c.4642G>T (p.Val1548Leu)
n.690G>T
c.4054G>T (p.Val1352Leu)
c.4186G>T (p.Val1396Leu)
c.4006G>T (p.Val1336Leu)
c.3943G>T (p.Val1315Leu)
c.3787G>T (p.Val1263Leu)
c.3718G>T (p.Val1240Leu)
 gnomAD v4
6g.33164437C>GCA363616523COL11A2n.706G>C
c.4900G>C (p.Val1634Leu)
c.4579G>C (p.Val1527Leu)
c.4642G>C (p.Val1548Leu)
n.690G>C
c.4054G>C (p.Val1352Leu)
c.4186G>C (p.Val1396Leu)
c.4006G>C (p.Val1336Leu)
c.3943G>C (p.Val1315Leu)
c.3787G>C (p.Val1263Leu)
c.3718G>C (p.Val1240Leu)
6g.33164437C>TCA363616524COL11A2n.706G>A
c.4900G>A (p.Val1634Met)
c.4579G>A (p.Val1527Met)
c.4642G>A (p.Val1548Met)
n.690G>A
c.4054G>A (p.Val1352Met)
c.4186G>A (p.Val1396Met)
c.4006G>A (p.Val1336Met)
c.3943G>A (p.Val1315Met)
c.3787G>A (p.Val1263Met)
c.3718G>A (p.Val1240Met)
 gnomAD v4
6g.33164438A>CCA449867062COL11A2n.705T>G
c.4899T>G (p.Gly1633=)
c.4578T>G (p.Gly1526=)
c.4641T>G (p.Gly1547=)
n.689T>G
c.4053T>G (p.Gly1351=)
c.4185T>G (p.Gly1395=)
c.4005T>G (p.Gly1335=)
c.3942T>G (p.Gly1314=)
c.3786T>G (p.Gly1262=)
c.3717T>G (p.Gly1239=)
6g.33164438A>GCA449867063COL11A2n.705T>C
c.4899T>C (p.Gly1633=)
c.4578T>C (p.Gly1526=)
c.4641T>C (p.Gly1547=)
n.689T>C
c.4053T>C (p.Gly1351=)
c.4185T>C (p.Gly1395=)
c.4005T>C (p.Gly1335=)
c.3942T>C (p.Gly1314=)
c.3786T>C (p.Gly1262=)
c.3717T>C (p.Gly1239=)
6g.33164438A>TCA449867064COL11A2n.705T>A
c.4899T>A (p.Gly1633=)
c.4578T>A (p.Gly1526=)
c.4641T>A (p.Gly1547=)
n.689T>A
c.4053T>A (p.Gly1351=)
c.4185T>A (p.Gly1395=)
c.4005T>A (p.Gly1335=)
c.3942T>A (p.Gly1314=)
c.3786T>A (p.Gly1262=)
c.3717T>A (p.Gly1239=)
6g.33164439C>ACA363616530COL11A2n.704G>T
c.4898G>T (p.Gly1633Val)
c.4577G>T (p.Gly1526Val)
c.4640G>T (p.Gly1547Val)
n.688G>T
c.4052G>T (p.Gly1351Val)
c.4184G>T (p.Gly1395Val)
c.4004G>T (p.Gly1335Val)
c.3941G>T (p.Gly1314Val)
c.3785G>T (p.Gly1262Val)
c.3716G>T (p.Gly1239Val)
 gnomAD v4
6g.33164439C=CA1619889844COL11A2n.704G=
c.4898G= (p.Gly1633=)
c.4577G= (p.Gly1526=)
c.4640G= (p.Gly1547=)
n.688G=
c.4052G= (p.Gly1351=)
c.4184G= (p.Gly1395=)
c.4004G= (p.Gly1335=)
c.3941G= (p.Gly1314=)
c.3785G= (p.Gly1262=)
c.3716G= (p.Gly1239=)
6g.33164439C>GCA363616527COL11A2n.704G>C
c.4898G>C (p.Gly1633Ala)
c.4577G>C (p.Gly1526Ala)
c.4640G>C (p.Gly1547Ala)
n.688G>C
c.4052G>C (p.Gly1351Ala)
c.4184G>C (p.Gly1395Ala)
c.4004G>C (p.Gly1335Ala)
c.3941G>C (p.Gly1314Ala)
c.3785G>C (p.Gly1262Ala)
c.3716G>C (p.Gly1239Ala)
 gnomAD v4
6g.33164439C>TCA3749959COL11A2n.704G>A
c.4898G>A (p.Gly1633Asp)
c.4577G>A (p.Gly1526Asp)
c.4640G>A (p.Gly1547Asp)
n.688G>A
c.4052G>A (p.Gly1351Asp)
c.4184G>A (p.Gly1395Asp)
c.4004G>A (p.Gly1335Asp)
c.3941G>A (p.Gly1314Asp)
c.3785G>A (p.Gly1262Asp)
c.3716G>A (p.Gly1239Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164440C>ACA363616532COL11A2n.703G>T
c.4897G>T (p.Gly1633Cys)
c.4576G>T (p.Gly1526Cys)
c.4639G>T (p.Gly1547Cys)
n.687G>T
c.4051G>T (p.Gly1351Cys)
c.4183G>T (p.Gly1395Cys)
c.4003G>T (p.Gly1335Cys)
c.3940G>T (p.Gly1314Cys)
c.3784G>T (p.Gly1262Cys)
c.3715G>T (p.Gly1239Cys)
 gnomAD v4
6g.33164440C=CA1619889850COL11A2n.703G=
c.4897G= (p.Gly1633=)
c.4576G= (p.Gly1526=)
c.4639G= (p.Gly1547=)
n.687G=
c.4051G= (p.Gly1351=)
c.4183G= (p.Gly1395=)
c.4003G= (p.Gly1335=)
c.3940G= (p.Gly1314=)
c.3784G= (p.Gly1262=)
c.3715G= (p.Gly1239=)
6g.33164440C>GCA3749960COL11A2n.703G>C
c.4897G>C (p.Gly1633Arg)
c.4576G>C (p.Gly1526Arg)
c.4639G>C (p.Gly1547Arg)
n.687G>C
c.4051G>C (p.Gly1351Arg)
c.4183G>C (p.Gly1395Arg)
c.4003G>C (p.Gly1335Arg)
c.3940G>C (p.Gly1314Arg)
c.3784G>C (p.Gly1262Arg)
c.3715G>C (p.Gly1239Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164440C>TCA363616536COL11A2n.703G>A
c.4897G>A (p.Gly1633Ser)
c.4576G>A (p.Gly1526Ser)
c.4639G>A (p.Gly1547Ser)
n.687G>A
c.4051G>A (p.Gly1351Ser)
c.4183G>A (p.Gly1395Ser)
c.4003G>A (p.Gly1335Ser)
c.3940G>A (p.Gly1314Ser)
c.3784G>A (p.Gly1262Ser)
c.3715G>A (p.Gly1239Ser)
 dbSNP gnomAD v2
6g.33164441C>ACA449867065COL11A2n.702G>T
c.4896G>T (p.Val1632=)
c.4575G>T (p.Val1525=)
c.4638G>T (p.Val1546=)
n.686G>T
c.4050G>T (p.Val1350=)
c.4182G>T (p.Val1394=)
c.4002G>T (p.Val1334=)
c.3939G>T (p.Val1313=)
c.3783G>T (p.Val1261=)
c.3714G>T (p.Val1238=)
 gnomAD v4
6g.33164441C=CA1619889854COL11A2n.702G=
c.4896G= (p.Val1632=)
c.4575G= (p.Val1525=)
c.4638G= (p.Val1546=)
n.686G=
c.4050G= (p.Val1350=)
c.4182G= (p.Val1394=)
c.4002G= (p.Val1334=)
c.3939G= (p.Val1313=)
c.3783G= (p.Val1261=)
c.3714G= (p.Val1238=)
6g.33164441C>GCA449867066COL11A2n.702G>C
c.4896G>C (p.Val1632=)
c.4575G>C (p.Val1525=)
c.4638G>C (p.Val1546=)
n.686G>C
c.4050G>C (p.Val1350=)
c.4182G>C (p.Val1394=)
c.4002G>C (p.Val1334=)
c.3939G>C (p.Val1313=)
c.3783G>C (p.Val1261=)
c.3714G>C (p.Val1238=)
6g.33164441C>TCA449867067COL11A2n.702G>A
c.4896G>A (p.Val1632=)
c.4575G>A (p.Val1525=)
c.4638G>A (p.Val1546=)
n.686G>A
c.4050G>A (p.Val1350=)
c.4182G>A (p.Val1394=)
c.4002G>A (p.Val1334=)
c.3939G>A (p.Val1313=)
c.3783G>A (p.Val1261=)
c.3714G>A (p.Val1238=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.33164442A>CCA363616538COL11A2n.701T>G
c.4895T>G (p.Val1632Gly)
c.4574T>G (p.Val1525Gly)
c.4637T>G (p.Val1546Gly)
n.685T>G
c.4049T>G (p.Val1350Gly)
c.4181T>G (p.Val1394Gly)
c.4001T>G (p.Val1334Gly)
c.3938T>G (p.Val1313Gly)
c.3782T>G (p.Val1261Gly)
c.3713T>G (p.Val1238Gly)
6g.33164442A>GCA363616539COL11A2n.701T>C
c.4895T>C (p.Val1632Ala)
c.4574T>C (p.Val1525Ala)
c.4637T>C (p.Val1546Ala)
n.685T>C
c.4049T>C (p.Val1350Ala)
c.4181T>C (p.Val1394Ala)
c.4001T>C (p.Val1334Ala)
c.3938T>C (p.Val1313Ala)
c.3782T>C (p.Val1261Ala)
c.3713T>C (p.Val1238Ala)
6g.33164442A>TCA363616540COL11A2n.701T>A
c.4895T>A (p.Val1632Glu)
c.4574T>A (p.Val1525Glu)
c.4637T>A (p.Val1546Glu)
n.685T>A
c.4049T>A (p.Val1350Glu)
c.4181T>A (p.Val1394Glu)
c.4001T>A (p.Val1334Glu)
c.3938T>A (p.Val1313Glu)
c.3782T>A (p.Val1261Glu)
c.3713T>A (p.Val1238Glu)
6g.33164443C>ACA363616541COL11A2n.700G>T
c.4894G>T (p.Val1632Leu)
c.4573G>T (p.Val1525Leu)
c.4636G>T (p.Val1546Leu)
n.684G>T
c.4048G>T (p.Val1350Leu)
c.4180G>T (p.Val1394Leu)
c.4000G>T (p.Val1334Leu)
c.3937G>T (p.Val1313Leu)
c.3781G>T (p.Val1261Leu)
c.3712G>T (p.Val1238Leu)
 gnomAD v4
6g.33164443C>GCA363616542COL11A2n.700G>C
c.4894G>C (p.Val1632Leu)
c.4573G>C (p.Val1525Leu)
c.4636G>C (p.Val1546Leu)
n.684G>C
c.4048G>C (p.Val1350Leu)
c.4180G>C (p.Val1394Leu)
c.4000G>C (p.Val1334Leu)
c.3937G>C (p.Val1313Leu)
c.3781G>C (p.Val1261Leu)
c.3712G>C (p.Val1238Leu)
6g.33164443C>TCA363616544COL11A2n.700G>A
c.4894G>A (p.Val1632Met)
c.4573G>A (p.Val1525Met)
c.4636G>A (p.Val1546Met)
n.684G>A
c.4048G>A (p.Val1350Met)
c.4180G>A (p.Val1394Met)
c.4000G>A (p.Val1334Met)
c.3937G>A (p.Val1313Met)
c.3781G>A (p.Val1261Met)
c.3712G>A (p.Val1238Met)
 gnomAD v4
6g.33164444T>ACA449867068COL11A2n.699A>T
c.4893A>T (p.Pro1631=)
c.4572A>T (p.Pro1524=)
c.4635A>T (p.Pro1545=)
n.683A>T
c.4047A>T (p.Pro1349=)
c.4179A>T (p.Pro1393=)
c.3999A>T (p.Pro1333=)
c.3936A>T (p.Pro1312=)
c.3780A>T (p.Pro1260=)
c.3711A>T (p.Pro1237=)
6g.33164444T>CCA449867070COL11A2n.699A>G
c.4893A>G (p.Pro1631=)
c.4572A>G (p.Pro1524=)
c.4635A>G (p.Pro1545=)
n.683A>G
c.4047A>G (p.Pro1349=)
c.4179A>G (p.Pro1393=)
c.3999A>G (p.Pro1333=)
c.3936A>G (p.Pro1312=)
c.3780A>G (p.Pro1260=)
c.3711A>G (p.Pro1237=)
 ClinVar gnomAD v4
6g.33164444T>GCA449867069COL11A2n.699A>C
c.4893A>C (p.Pro1631=)
c.4572A>C (p.Pro1524=)
c.4635A>C (p.Pro1545=)
n.683A>C
c.4047A>C (p.Pro1349=)
c.4179A>C (p.Pro1393=)
c.3999A>C (p.Pro1333=)
c.3936A>C (p.Pro1312=)
c.3780A>C (p.Pro1260=)
c.3711A>C (p.Pro1237=)
6g.33164445G>ACA363616545COL11A2n.698C>T
c.4892C>T (p.Pro1631Leu)
c.4571C>T (p.Pro1524Leu)
c.4634C>T (p.Pro1545Leu)
n.682C>T
c.4046C>T (p.Pro1349Leu)
c.4178C>T (p.Pro1393Leu)
c.3998C>T (p.Pro1333Leu)
c.3935C>T (p.Pro1312Leu)
c.3779C>T (p.Pro1260Leu)
c.3710C>T (p.Pro1237Leu)
 gnomAD v4
6g.33164445G>CCA363616546COL11A2n.698C>G
c.4892C>G (p.Pro1631Arg)
c.4571C>G (p.Pro1524Arg)
c.4634C>G (p.Pro1545Arg)
n.682C>G
c.4046C>G (p.Pro1349Arg)
c.4178C>G (p.Pro1393Arg)
c.3998C>G (p.Pro1333Arg)
c.3935C>G (p.Pro1312Arg)
c.3779C>G (p.Pro1260Arg)
c.3710C>G (p.Pro1237Arg)
6g.33164445G>TCA363616549COL11A2n.698C>A
c.4892C>A (p.Pro1631Gln)
c.4571C>A (p.Pro1524Gln)
c.4634C>A (p.Pro1545Gln)
n.682C>A
c.4046C>A (p.Pro1349Gln)
c.4178C>A (p.Pro1393Gln)
c.3998C>A (p.Pro1333Gln)
c.3935C>A (p.Pro1312Gln)
c.3779C>A (p.Pro1260Gln)
c.3710C>A (p.Pro1237Gln)
 gnomAD v4
6g.33164448delCA2578581069COL11A2n.698del
c.4892del (p.Pro1631GlnfsTer?)
c.4571del (p.Pro1524GlnfsTer?)
c.4634del (p.Pro1545GlnfsTer?)
n.682del
c.4046del (p.Pro1349GlnfsTer?)
c.4178del (p.Pro1393GlnfsTer?)
c.3998del (p.Pro1333GlnfsTer?)
c.3935del (p.Pro1312GlnfsTer?)
c.3779del (p.Pro1260GlnfsTer?)
c.3710del (p.Pro1237GlnfsTer?)
 gnomAD v4
6g.33164446G>ACA363616556COL11A2n.697C>T
c.4891C>T (p.Pro1631Ser)
c.4570C>T (p.Pro1524Ser)
c.4633C>T (p.Pro1545Ser)
n.681C>T
c.4045C>T (p.Pro1349Ser)
c.4177C>T (p.Pro1393Ser)
c.3997C>T (p.Pro1333Ser)
c.3934C>T (p.Pro1312Ser)
c.3778C>T (p.Pro1260Ser)
c.3709C>T (p.Pro1237Ser)
6g.33164446G>CCA363616554COL11A2n.697C>G
c.4891C>G (p.Pro1631Ala)
c.4570C>G (p.Pro1524Ala)
c.4633C>G (p.Pro1545Ala)
n.681C>G
c.4045C>G (p.Pro1349Ala)
c.4177C>G (p.Pro1393Ala)
c.3997C>G (p.Pro1333Ala)
c.3934C>G (p.Pro1312Ala)
c.3778C>G (p.Pro1260Ala)
c.3709C>G (p.Pro1237Ala)
6g.33164446G>TCA363616551COL11A2n.697C>A
c.4891C>A (p.Pro1631Thr)
c.4570C>A (p.Pro1524Thr)
c.4633C>A (p.Pro1545Thr)
n.681C>A
c.4045C>A (p.Pro1349Thr)
c.4177C>A (p.Pro1393Thr)
c.3997C>A (p.Pro1333Thr)
c.3934C>A (p.Pro1312Thr)
c.3778C>A (p.Pro1260Thr)
c.3709C>A (p.Pro1237Thr)
 gnomAD v4
6g.33164447G>ACA449867071COL11A2n.696C>T
c.4890C>T (p.Ser1630=)
c.4569C>T (p.Ser1523=)
c.4632C>T (p.Ser1544=)
n.680C>T
c.4044C>T (p.Ser1348=)
c.4176C>T (p.Ser1392=)
c.3996C>T (p.Ser1332=)
c.3933C>T (p.Ser1311=)
c.3777C>T (p.Ser1259=)
c.3708C>T (p.Ser1236=)
6g.33164447G>CCA449867072COL11A2n.696C>G
c.4890C>G (p.Ser1630=)
c.4569C>G (p.Ser1523=)
c.4632C>G (p.Ser1544=)
n.680C>G
c.4044C>G (p.Ser1348=)
c.4176C>G (p.Ser1392=)
c.3996C>G (p.Ser1332=)
c.3933C>G (p.Ser1311=)
c.3777C>G (p.Ser1259=)
c.3708C>G (p.Ser1236=)
 dbSNP
6g.33164447G=CA1619889858COL11A2n.696C=
c.4890C= (p.Ser1630=)
c.4569C= (p.Ser1523=)
c.4632C= (p.Ser1544=)
n.680C=
c.4044C= (p.Ser1348=)
c.4176C= (p.Ser1392=)
c.3996C= (p.Ser1332=)
c.3933C= (p.Ser1311=)
c.3777C= (p.Ser1259=)
c.3708C= (p.Ser1236=)
6g.33164447G>TCA449867073COL11A2n.696C>A
c.4890C>A (p.Ser1630=)
c.4569C>A (p.Ser1523=)
c.4632C>A (p.Ser1544=)
n.680C>A
c.4044C>A (p.Ser1348=)
c.4176C>A (p.Ser1392=)
c.3996C>A (p.Ser1332=)
c.3933C>A (p.Ser1311=)
c.3777C>A (p.Ser1259=)
c.3708C>A (p.Ser1236=)
 gnomAD v4
6g.33164448G>ACA3749961COL11A2n.695C>T
c.4889C>T (p.Ser1630Phe)
c.4568C>T (p.Ser1523Phe)
c.4631C>T (p.Ser1544Phe)
n.679C>T
c.4043C>T (p.Ser1348Phe)
c.4175C>T (p.Ser1392Phe)
c.3995C>T (p.Ser1332Phe)
c.3932C>T (p.Ser1311Phe)
c.3776C>T (p.Ser1259Phe)
c.3707C>T (p.Ser1236Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164448G>CCA363616560COL11A2n.695C>G
c.4889C>G (p.Ser1630Cys)
c.4568C>G (p.Ser1523Cys)
c.4631C>G (p.Ser1544Cys)
n.679C>G
c.4043C>G (p.Ser1348Cys)
c.4175C>G (p.Ser1392Cys)
c.3995C>G (p.Ser1332Cys)
c.3932C>G (p.Ser1311Cys)
c.3776C>G (p.Ser1259Cys)
c.3707C>G (p.Ser1236Cys)
6g.33164448G=CA1619889861COL11A2n.695C=
c.4889C= (p.Ser1630=)
c.4568C= (p.Ser1523=)
c.4631C= (p.Ser1544=)
n.679C=
c.4043C= (p.Ser1348=)
c.4175C= (p.Ser1392=)
c.3995C= (p.Ser1332=)
c.3932C= (p.Ser1311=)
c.3776C= (p.Ser1259=)
c.3707C= (p.Ser1236=)
6g.33164448G>TCA363616562COL11A2n.695C>A
c.4889C>A (p.Ser1630Tyr)
c.4568C>A (p.Ser1523Tyr)
c.4631C>A (p.Ser1544Tyr)
n.679C>A
c.4043C>A (p.Ser1348Tyr)
c.4175C>A (p.Ser1392Tyr)
c.3995C>A (p.Ser1332Tyr)
c.3932C>A (p.Ser1311Tyr)
c.3776C>A (p.Ser1259Tyr)
c.3707C>A (p.Ser1236Tyr)
 gnomAD v4
6g.33164449A>CCA363616565COL11A2n.694T>G
c.4888T>G (p.Ser1630Ala)
c.4567T>G (p.Ser1523Ala)
c.4630T>G (p.Ser1544Ala)
n.678T>G
c.4042T>G (p.Ser1348Ala)
c.4174T>G (p.Ser1392Ala)
c.3994T>G (p.Ser1332Ala)
c.3931T>G (p.Ser1311Ala)
c.3775T>G (p.Ser1259Ala)
c.3706T>G (p.Ser1236Ala)
6g.33164449A>GCA363616566COL11A2n.694T>C
c.4888T>C (p.Ser1630Pro)
c.4567T>C (p.Ser1523Pro)
c.4630T>C (p.Ser1544Pro)
n.678T>C
c.4042T>C (p.Ser1348Pro)
c.4174T>C (p.Ser1392Pro)
c.3994T>C (p.Ser1332Pro)
c.3931T>C (p.Ser1311Pro)
c.3775T>C (p.Ser1259Pro)
c.3706T>C (p.Ser1236Pro)
 gnomAD v4
6g.33164449A>TCA363616568COL11A2n.694T>A
c.4888T>A (p.Ser1630Thr)
c.4567T>A (p.Ser1523Thr)
c.4630T>A (p.Ser1544Thr)
n.678T>A
c.4042T>A (p.Ser1348Thr)
c.4174T>A (p.Ser1392Thr)
c.3994T>A (p.Ser1332Thr)
c.3931T>A (p.Ser1311Thr)
c.3775T>A (p.Ser1259Thr)
c.3706T>A (p.Ser1236Thr)
6g.33164450G>ACA449867074COL11A2n.693C>T
c.4887C>T (p.Gly1629=)
c.4566C>T (p.Gly1522=)
c.4629C>T (p.Gly1543=)
n.677C>T
c.4041C>T (p.Gly1347=)
c.4173C>T (p.Gly1391=)
c.3993C>T (p.Gly1331=)
c.3930C>T (p.Gly1310=)
c.3774C>T (p.Gly1258=)
c.3705C>T (p.Gly1235=)
 gnomAD v4
6g.33164450G>CCA449867075COL11A2n.693C>G
c.4887C>G (p.Gly1629=)
c.4566C>G (p.Gly1522=)
c.4629C>G (p.Gly1543=)
n.677C>G
c.4041C>G (p.Gly1347=)
c.4173C>G (p.Gly1391=)
c.3993C>G (p.Gly1331=)
c.3930C>G (p.Gly1310=)
c.3774C>G (p.Gly1258=)
c.3705C>G (p.Gly1235=)
6g.33164450G>TCA449867076COL11A2n.693C>A
c.4887C>A (p.Gly1629=)
c.4566C>A (p.Gly1522=)
c.4629C>A (p.Gly1543=)
n.677C>A
c.4041C>A (p.Gly1347=)
c.4173C>A (p.Gly1391=)
c.3993C>A (p.Gly1331=)
c.3930C>A (p.Gly1310=)
c.3774C>A (p.Gly1258=)
c.3705C>A (p.Gly1235=)
 gnomAD v4
6g.33164451C>ACA363616574COL11A2n.692G>T
c.4886G>T (p.Gly1629Val)
c.4565G>T (p.Gly1522Val)
c.4628G>T (p.Gly1543Val)
n.676G>T
c.4040G>T (p.Gly1347Val)
c.4172G>T (p.Gly1391Val)
c.3992G>T (p.Gly1331Val)
c.3929G>T (p.Gly1310Val)
c.3773G>T (p.Gly1258Val)
c.3704G>T (p.Gly1235Val)
 gnomAD v4
6g.33164451C=CA1619889865COL11A2n.692G=
c.4886G= (p.Gly1629=)
c.4565G= (p.Gly1522=)
c.4628G= (p.Gly1543=)
n.676G=
c.4040G= (p.Gly1347=)
c.4172G= (p.Gly1391=)
c.3992G= (p.Gly1331=)
c.3929G= (p.Gly1310=)
c.3773G= (p.Gly1258=)
c.3704G= (p.Gly1235=)
6g.33164451C>GCA363616571COL11A2n.692G>C
c.4886G>C (p.Gly1629Ala)
c.4565G>C (p.Gly1522Ala)
c.4628G>C (p.Gly1543Ala)
n.676G>C
c.4040G>C (p.Gly1347Ala)
c.4172G>C (p.Gly1391Ala)
c.3992G>C (p.Gly1331Ala)
c.3929G>C (p.Gly1310Ala)
c.3773G>C (p.Gly1258Ala)
c.3704G>C (p.Gly1235Ala)
 gnomAD v4
6g.33164451C>TCA363616573COL11A2n.692G>A
c.4886G>A (p.Gly1629Asp)
c.4565G>A (p.Gly1522Asp)
c.4628G>A (p.Gly1543Asp)
n.676G>A
c.4040G>A (p.Gly1347Asp)
c.4172G>A (p.Gly1391Asp)
c.3992G>A (p.Gly1331Asp)
c.3929G>A (p.Gly1310Asp)
c.3773G>A (p.Gly1258Asp)
c.3704G>A (p.Gly1235Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.33164452C>ACA363616578COL11A2n.691G>T
c.4885G>T (p.Gly1629Cys)
c.4564G>T (p.Gly1522Cys)
c.4627G>T (p.Gly1543Cys)
n.675G>T
c.4039G>T (p.Gly1347Cys)
c.4171G>T (p.Gly1391Cys)
c.3991G>T (p.Gly1331Cys)
c.3928G>T (p.Gly1310Cys)
c.3772G>T (p.Gly1258Cys)
c.3703G>T (p.Gly1235Cys)
 gnomAD v4
6g.33164452C=CA1619889869COL11A2n.691G=
c.4885G= (p.Gly1629=)
c.4564G= (p.Gly1522=)
c.4627G= (p.Gly1543=)
n.675G=
c.4039G= (p.Gly1347=)
c.4171G= (p.Gly1391=)
c.3991G= (p.Gly1331=)
c.3928G= (p.Gly1310=)
c.3772G= (p.Gly1258=)
c.3703G= (p.Gly1235=)
6g.33164452C>GCA363616580COL11A2n.691G>C
c.4885G>C (p.Gly1629Arg)
c.4564G>C (p.Gly1522Arg)
c.4627G>C (p.Gly1543Arg)
n.675G>C
c.4039G>C (p.Gly1347Arg)
c.4171G>C (p.Gly1391Arg)
c.3991G>C (p.Gly1331Arg)
c.3928G>C (p.Gly1310Arg)
c.3772G>C (p.Gly1258Arg)
c.3703G>C (p.Gly1235Arg)
6g.33164452C>TCA363616583COL11A2n.691G>A
c.4885G>A (p.Gly1629Ser)
c.4564G>A (p.Gly1522Ser)
c.4627G>A (p.Gly1543Ser)
n.675G>A
c.4039G>A (p.Gly1347Ser)
c.4171G>A (p.Gly1391Ser)
c.3991G>A (p.Gly1331Ser)
c.3928G>A (p.Gly1310Ser)
c.3772G>A (p.Gly1258Ser)
c.3703G>A (p.Gly1235Ser)
 dbSNP gnomAD v2
6g.33164453C>ACA363616585COL11A2n.690G>T
c.4884G>T (p.Glu1628Asp)
c.4563G>T (p.Glu1521Asp)
c.4626G>T (p.Glu1542Asp)
n.674G>T
c.4038G>T (p.Glu1346Asp)
c.4170G>T (p.Glu1390Asp)
c.3990G>T (p.Glu1330Asp)
c.3927G>T (p.Glu1309Asp)
c.3771G>T (p.Glu1257Asp)
c.3702G>T (p.Glu1234Asp)
 gnomAD v4
6g.33164453C=CA1619889875COL11A2n.690G=
c.4884G= (p.Glu1628=)
c.4563G= (p.Glu1521=)
c.4626G= (p.Glu1542=)
n.674G=
c.4038G= (p.Glu1346=)
c.4170G= (p.Glu1390=)
c.3990G= (p.Glu1330=)
c.3927G= (p.Glu1309=)
c.3771G= (p.Glu1257=)
c.3702G= (p.Glu1234=)
6g.33164453C>GCA182752COL11A2n.690G>C
c.4884G>C (p.Glu1628Asp)
c.4563G>C (p.Glu1521Asp)
c.4626G>C (p.Glu1542Asp)
n.674G>C
c.4038G>C (p.Glu1346Asp)
c.4170G>C (p.Glu1390Asp)
c.3990G>C (p.Glu1330Asp)
c.3927G>C (p.Glu1309Asp)
c.3771G>C (p.Glu1257Asp)
c.3702G>C (p.Glu1234Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164453C>TCA449867077COL11A2n.690G>A
c.4884G>A (p.Glu1628=)
c.4563G>A (p.Glu1521=)
c.4626G>A (p.Glu1542=)
n.674G>A
c.4038G>A (p.Glu1346=)
c.4170G>A (p.Glu1390=)
c.3990G>A (p.Glu1330=)
c.3927G>A (p.Glu1309=)
c.3771G>A (p.Glu1257=)
c.3702G>A (p.Glu1234=)
 gnomAD v4
6g.33164454T>ACA363616588COL11A2n.689A>T
c.4883A>T (p.Glu1628Val)
c.4562A>T (p.Glu1521Val)
c.4625A>T (p.Glu1542Val)
n.673A>T
c.4037A>T (p.Glu1346Val)
c.4169A>T (p.Glu1390Val)
c.3989A>T (p.Glu1330Val)
c.3926A>T (p.Glu1309Val)
c.3770A>T (p.Glu1257Val)
c.3701A>T (p.Glu1234Val)
6g.33164454T>CCA363616594COL11A2n.689A>G
c.4883A>G (p.Glu1628Gly)
c.4562A>G (p.Glu1521Gly)
c.4625A>G (p.Glu1542Gly)
n.673A>G
c.4037A>G (p.Glu1346Gly)
c.4169A>G (p.Glu1390Gly)
c.3989A>G (p.Glu1330Gly)
c.3926A>G (p.Glu1309Gly)
c.3770A>G (p.Glu1257Gly)
c.3701A>G (p.Glu1234Gly)
6g.33164454T>GCA363616591COL11A2n.689A>C
c.4883A>C (p.Glu1628Ala)
c.4562A>C (p.Glu1521Ala)
c.4625A>C (p.Glu1542Ala)
n.673A>C
c.4037A>C (p.Glu1346Ala)
c.4169A>C (p.Glu1390Ala)
c.3989A>C (p.Glu1330Ala)
c.3926A>C (p.Glu1309Ala)
c.3770A>C (p.Glu1257Ala)
c.3701A>C (p.Glu1234Ala)
6g.33164455C>ACA363616595COL11A2n.688G>T
c.4882G>T (p.Glu1628Ter)
c.4561G>T (p.Glu1521Ter)
c.4624G>T (p.Glu1542Ter)
n.672G>T
c.4036G>T (p.Glu1346Ter)
c.4168G>T (p.Glu1390Ter)
c.3988G>T (p.Glu1330Ter)
c.3925G>T (p.Glu1309Ter)
c.3769G>T (p.Glu1257Ter)
c.3700G>T (p.Glu1234Ter)
 gnomAD v4
6g.33164455C>GCA363616597COL11A2n.688G>C
c.4882G>C (p.Glu1628Gln)
c.4561G>C (p.Glu1521Gln)
c.4624G>C (p.Glu1542Gln)
n.672G>C
c.4036G>C (p.Glu1346Gln)
c.4168G>C (p.Glu1390Gln)
c.3988G>C (p.Glu1330Gln)
c.3925G>C (p.Glu1309Gln)
c.3769G>C (p.Glu1257Gln)
c.3700G>C (p.Glu1234Gln)
6g.33164455C>TCA363616599COL11A2n.688G>A
c.4882G>A (p.Glu1628Lys)
c.4561G>A (p.Glu1521Lys)
c.4624G>A (p.Glu1542Lys)
n.672G>A
c.4036G>A (p.Glu1346Lys)
c.4168G>A (p.Glu1390Lys)
c.3988G>A (p.Glu1330Lys)
c.3925G>A (p.Glu1309Lys)
c.3769G>A (p.Glu1257Lys)
c.3700G>A (p.Glu1234Lys)
 gnomAD v4 COSMIC
6g.33164456T>ACA449867078COL11A2n.687A>T
c.4881A>T (p.Ser1627=)
c.4560A>T (p.Ser1520=)
c.4623A>T (p.Ser1541=)
n.671A>T
c.4035A>T (p.Ser1345=)
c.4167A>T (p.Ser1389=)
c.3987A>T (p.Ser1329=)
c.3924A>T (p.Ser1308=)
c.3768A>T (p.Ser1256=)
c.3699A>T (p.Ser1233=)
6g.33164456T>CCA449867079COL11A2n.687A>G
c.4881A>G (p.Ser1627=)
c.4560A>G (p.Ser1520=)
c.4623A>G (p.Ser1541=)
n.671A>G
c.4035A>G (p.Ser1345=)
c.4167A>G (p.Ser1389=)
c.3987A>G (p.Ser1329=)
c.3924A>G (p.Ser1308=)
c.3768A>G (p.Ser1256=)
c.3699A>G (p.Ser1233=)
 ClinVar
6g.33164456T>GCA449867080COL11A2n.687A>C
c.4881A>C (p.Ser1627=)
c.4560A>C (p.Ser1520=)
c.4623A>C (p.Ser1541=)
n.671A>C
c.4035A>C (p.Ser1345=)
c.4167A>C (p.Ser1389=)
c.3987A>C (p.Ser1329=)
c.3924A>C (p.Ser1308=)
c.3768A>C (p.Ser1256=)
c.3699A>C (p.Ser1233=)
6g.33164457G>ACA3749962COL11A2n.686C>T
c.4880C>T (p.Ser1627Leu)
c.4559C>T (p.Ser1520Leu)
c.4622C>T (p.Ser1541Leu)
n.670C>T
c.4034C>T (p.Ser1345Leu)
c.4166C>T (p.Ser1389Leu)
c.3986C>T (p.Ser1329Leu)
c.3923C>T (p.Ser1308Leu)
c.3767C>T (p.Ser1256Leu)
c.3698C>T (p.Ser1233Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164457G>CCA363616602COL11A2n.686C>G
c.4880C>G (p.Ser1627Ter)
c.4559C>G (p.Ser1520Ter)
c.4622C>G (p.Ser1541Ter)
n.670C>G
c.4034C>G (p.Ser1345Ter)
c.4166C>G (p.Ser1389Ter)
c.3986C>G (p.Ser1329Ter)
c.3923C>G (p.Ser1308Ter)
c.3767C>G (p.Ser1256Ter)
c.3698C>G (p.Ser1233Ter)
6g.33164457G=CA1619889879COL11A2n.686C=
c.4880C= (p.Ser1627=)
c.4559C= (p.Ser1520=)
c.4622C= (p.Ser1541=)
n.670C=
c.4034C= (p.Ser1345=)
c.4166C= (p.Ser1389=)
c.3986C= (p.Ser1329=)
c.3923C= (p.Ser1308=)
c.3767C= (p.Ser1256=)
c.3698C= (p.Ser1233=)
6g.33164457G>TCA363616605COL11A2n.686C>A
c.4880C>A (p.Ser1627Ter)
c.4559C>A (p.Ser1520Ter)
c.4622C>A (p.Ser1541Ter)
n.670C>A
c.4034C>A (p.Ser1345Ter)
c.4166C>A (p.Ser1389Ter)
c.3986C>A (p.Ser1329Ter)
c.3923C>A (p.Ser1308Ter)
c.3767C>A (p.Ser1256Ter)
c.3698C>A (p.Ser1233Ter)
 gnomAD v4
6g.33164458A>CCA363616607COL11A2n.685T>G
c.4879T>G (p.Ser1627Ala)
c.4558T>G (p.Ser1520Ala)
c.4621T>G (p.Ser1541Ala)
n.669T>G
c.4033T>G (p.Ser1345Ala)
c.4165T>G (p.Ser1389Ala)
c.3985T>G (p.Ser1329Ala)
c.3922T>G (p.Ser1308Ala)
c.3766T>G (p.Ser1256Ala)
c.3697T>G (p.Ser1233Ala)
 ClinVar dbSNP
6g.33164458A>GCA363616609COL11A2n.685T>C
c.4879T>C (p.Ser1627Pro)
c.4558T>C (p.Ser1520Pro)
c.4621T>C (p.Ser1541Pro)
n.669T>C
c.4033T>C (p.Ser1345Pro)
c.4165T>C (p.Ser1389Pro)
c.3985T>C (p.Ser1329Pro)
c.3922T>C (p.Ser1308Pro)
c.3766T>C (p.Ser1256Pro)
c.3697T>C (p.Ser1233Pro)
6g.33164458A>TCA363616610COL11A2n.685T>A
c.4879T>A (p.Ser1627Thr)
c.4558T>A (p.Ser1520Thr)
c.4621T>A (p.Ser1541Thr)
n.669T>A
c.4033T>A (p.Ser1345Thr)
c.4165T>A (p.Ser1389Thr)
c.3985T>A (p.Ser1329Thr)
c.3922T>A (p.Ser1308Thr)
c.3766T>A (p.Ser1256Thr)
c.3697T>A (p.Ser1233Thr)
6g.33164459G>ACA449867081COL11A2n.684C>T
c.4878C>T (p.Asp1626=)
c.4557C>T (p.Asp1519=)
c.4620C>T (p.Asp1540=)
n.668C>T
c.4032C>T (p.Asp1344=)
c.4164C>T (p.Asp1388=)
c.3984C>T (p.Asp1328=)
c.3921C>T (p.Asp1307=)
c.3765C>T (p.Asp1255=)
c.3696C>T (p.Asp1232=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164459G>CCA363616613COL11A2n.684C>G
c.4878C>G (p.Asp1626Glu)
c.4557C>G (p.Asp1519Glu)
c.4620C>G (p.Asp1540Glu)
n.668C>G
c.4032C>G (p.Asp1344Glu)
c.4164C>G (p.Asp1388Glu)
c.3984C>G (p.Asp1328Glu)
c.3921C>G (p.Asp1307Glu)
c.3765C>G (p.Asp1255Glu)
c.3696C>G (p.Asp1232Glu)
6g.33164459G=CA1619889882COL11A2n.684C=
c.4878C= (p.Asp1626=)
c.4557C= (p.Asp1519=)
c.4620C= (p.Asp1540=)
n.668C=
c.4032C= (p.Asp1344=)
c.4164C= (p.Asp1388=)
c.3984C= (p.Asp1328=)
c.3921C= (p.Asp1307=)
c.3765C= (p.Asp1255=)
c.3696C= (p.Asp1232=)
6g.33164459G>TCA363616615COL11A2n.684C>A
c.4878C>A (p.Asp1626Glu)
c.4557C>A (p.Asp1519Glu)
c.4620C>A (p.Asp1540Glu)
n.668C>A
c.4032C>A (p.Asp1344Glu)
c.4164C>A (p.Asp1388Glu)
c.3984C>A (p.Asp1328Glu)
c.3921C>A (p.Asp1307Glu)
c.3765C>A (p.Asp1255Glu)
c.3696C>A (p.Asp1232Glu)
 COSMIC
6g.33164461_33164466delCA2578581070COL11A2n.679_684del
c.4873_4878del (p.Val1625_Asp1626del)
c.4552_4557del (p.Val1518_Asp1519del)
c.4615_4620del (p.Val1539_Asp1540del)
n.663_668del
c.4027_4032del (p.Val1343_Asp1344del)
c.4159_4164del (p.Val1387_Asp1388del)
c.3979_3984del (p.Val1327_Asp1328del)
c.3916_3921del (p.Val1306_Asp1307del)
c.3760_3765del (p.Val1254_Asp1255del)
c.3691_3696del (p.Val1231_Asp1232del)
6g.33164460T>ACA363616620COL11A2n.683A>T
c.4877A>T (p.Asp1626Val)
c.4556A>T (p.Asp1519Val)
c.4619A>T (p.Asp1540Val)
n.667A>T
c.4031A>T (p.Asp1344Val)
c.4163A>T (p.Asp1388Val)
c.3983A>T (p.Asp1328Val)
c.3920A>T (p.Asp1307Val)
c.3764A>T (p.Asp1255Val)
c.3695A>T (p.Asp1232Val)
6g.33164460T>CCA363616622COL11A2n.683A>G
c.4877A>G (p.Asp1626Gly)
c.4556A>G (p.Asp1519Gly)
c.4619A>G (p.Asp1540Gly)
n.667A>G
c.4031A>G (p.Asp1344Gly)
c.4163A>G (p.Asp1388Gly)
c.3983A>G (p.Asp1328Gly)
c.3920A>G (p.Asp1307Gly)
c.3764A>G (p.Asp1255Gly)
c.3695A>G (p.Asp1232Gly)
 gnomAD v4
6g.33164460T>GCA363616618COL11A2n.683A>C
c.4877A>C (p.Asp1626Ala)
c.4556A>C (p.Asp1519Ala)
c.4619A>C (p.Asp1540Ala)
n.667A>C
c.4031A>C (p.Asp1344Ala)
c.4163A>C (p.Asp1388Ala)
c.3983A>C (p.Asp1328Ala)
c.3920A>C (p.Asp1307Ala)
c.3764A>C (p.Asp1255Ala)
c.3695A>C (p.Asp1232Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.33164460T=CA1619889889COL11A2n.683A=
c.4877A= (p.Asp1626=)
c.4556A= (p.Asp1519=)
c.4619A= (p.Asp1540=)
n.667A=
c.4031A= (p.Asp1344=)
c.4163A= (p.Asp1388=)
c.3983A= (p.Asp1328=)
c.3920A= (p.Asp1307=)
c.3764A= (p.Asp1255=)
c.3695A= (p.Asp1232=)
6g.33164461C>ACA363616624COL11A2n.682G>T
c.4876G>T (p.Asp1626Tyr)
c.4555G>T (p.Asp1519Tyr)
c.4618G>T (p.Asp1540Tyr)
n.666G>T
c.4030G>T (p.Asp1344Tyr)
c.4162G>T (p.Asp1388Tyr)
c.3982G>T (p.Asp1328Tyr)
c.3919G>T (p.Asp1307Tyr)
c.3763G>T (p.Asp1255Tyr)
c.3694G>T (p.Asp1232Tyr)
 gnomAD v4
6g.33164461C>GCA363616629COL11A2n.682G>C
c.4876G>C (p.Asp1626His)
c.4555G>C (p.Asp1519His)
c.4618G>C (p.Asp1540His)
n.666G>C
c.4030G>C (p.Asp1344His)
c.4162G>C (p.Asp1388His)
c.3982G>C (p.Asp1328His)
c.3919G>C (p.Asp1307His)
c.3763G>C (p.Asp1255His)
c.3694G>C (p.Asp1232His)
 gnomAD v4
6g.33164461C>TCA363616627COL11A2n.682G>A
c.4876G>A (p.Asp1626Asn)
c.4555G>A (p.Asp1519Asn)
c.4618G>A (p.Asp1540Asn)
n.666G>A
c.4030G>A (p.Asp1344Asn)
c.4162G>A (p.Asp1388Asn)
c.3982G>A (p.Asp1328Asn)
c.3919G>A (p.Asp1307Asn)
c.3763G>A (p.Asp1255Asn)
c.3694G>A (p.Asp1232Asn)
6g.33164462C>ACA449867082COL11A2n.681G>T
c.4875G>T (p.Val1625=)
c.4554G>T (p.Val1518=)
c.4617G>T (p.Val1539=)
n.665G>T
c.4029G>T (p.Val1343=)
c.4161G>T (p.Val1387=)
c.3981G>T (p.Val1327=)
c.3918G>T (p.Val1306=)
c.3762G>T (p.Val1254=)
c.3693G>T (p.Val1231=)
 gnomAD v4
6g.33164462C>GCA449867083COL11A2n.681G>C
c.4875G>C (p.Val1625=)
c.4554G>C (p.Val1518=)
c.4617G>C (p.Val1539=)
n.665G>C
c.4029G>C (p.Val1343=)
c.4161G>C (p.Val1387=)
c.3981G>C (p.Val1327=)
c.3918G>C (p.Val1306=)
c.3762G>C (p.Val1254=)
c.3693G>C (p.Val1231=)
6g.33164462C>TCA449867084COL11A2n.681G>A
c.4875G>A (p.Val1625=)
c.4554G>A (p.Val1518=)
c.4617G>A (p.Val1539=)
n.665G>A
c.4029G>A (p.Val1343=)
c.4161G>A (p.Val1387=)
c.3981G>A (p.Val1327=)
c.3918G>A (p.Val1306=)
c.3762G>A (p.Val1254=)
c.3693G>A (p.Val1231=)
 gnomAD v4
6g.33164463A>CCA363616632COL11A2n.680T>G
c.4874T>G (p.Val1625Gly)
c.4553T>G (p.Val1518Gly)
c.4616T>G (p.Val1539Gly)
n.664T>G
c.4028T>G (p.Val1343Gly)
c.4160T>G (p.Val1387Gly)
c.3980T>G (p.Val1327Gly)
c.3917T>G (p.Val1306Gly)
c.3761T>G (p.Val1254Gly)
c.3692T>G (p.Val1231Gly)
6g.33164463A>GCA363616637COL11A2n.680T>C
c.4874T>C (p.Val1625Ala)
c.4553T>C (p.Val1518Ala)
c.4616T>C (p.Val1539Ala)
n.664T>C
c.4028T>C (p.Val1343Ala)
c.4160T>C (p.Val1387Ala)
c.3980T>C (p.Val1327Ala)
c.3917T>C (p.Val1306Ala)
c.3761T>C (p.Val1254Ala)
c.3692T>C (p.Val1231Ala)
 gnomAD v4
6g.33164463A>TCA363616634COL11A2n.680T>A
c.4874T>A (p.Val1625Glu)
c.4553T>A (p.Val1518Glu)
c.4616T>A (p.Val1539Glu)
n.664T>A
c.4028T>A (p.Val1343Glu)
c.4160T>A (p.Val1387Glu)
c.3980T>A (p.Val1327Glu)
c.3917T>A (p.Val1306Glu)
c.3761T>A (p.Val1254Glu)
c.3692T>A (p.Val1231Glu)
 gnomAD v4
6g.33164464C>ACA363616639COL11A2n.679G>T
c.4873G>T (p.Val1625Leu)
c.4552G>T (p.Val1518Leu)
c.4615G>T (p.Val1539Leu)
n.663G>T
c.4027G>T (p.Val1343Leu)
c.4159G>T (p.Val1387Leu)
c.3979G>T (p.Val1327Leu)
c.3916G>T (p.Val1306Leu)
c.3760G>T (p.Val1254Leu)
c.3691G>T (p.Val1231Leu)
 gnomAD v4
6g.33164464C=CA1619889894COL11A2n.679G=
c.4873G= (p.Val1625=)
c.4552G= (p.Val1518=)
c.4615G= (p.Val1539=)
n.663G=
c.4027G= (p.Val1343=)
c.4159G= (p.Val1387=)
c.3979G= (p.Val1327=)
c.3916G= (p.Val1306=)
c.3760G= (p.Val1254=)
c.3691G= (p.Val1231=)
6g.33164464C>GCA363616642COL11A2n.679G>C
c.4873G>C (p.Val1625Leu)
c.4552G>C (p.Val1518Leu)
c.4615G>C (p.Val1539Leu)
n.663G>C
c.4027G>C (p.Val1343Leu)
c.4159G>C (p.Val1387Leu)
c.3979G>C (p.Val1327Leu)
c.3916G>C (p.Val1306Leu)
c.3760G>C (p.Val1254Leu)
c.3691G>C (p.Val1231Leu)
 ClinVar
6g.33164464C>TCA3749963COL11A2n.679G>A
c.4873G>A (p.Val1625Met)
c.4552G>A (p.Val1518Met)
c.4615G>A (p.Val1539Met)
n.663G>A
c.4027G>A (p.Val1343Met)
c.4159G>A (p.Val1387Met)
c.3979G>A (p.Val1327Met)
c.3916G>A (p.Val1306Met)
c.3760G>A (p.Val1254Met)
c.3691G>A (p.Val1231Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164465G>ACA3749964COL11A2n.678C>T
c.4872C>T (p.Tyr1624=)
c.4551C>T (p.Tyr1517=)
c.4614C>T (p.Tyr1538=)
n.662C>T
c.4026C>T (p.Tyr1342=)
c.4158C>T (p.Tyr1386=)
c.3978C>T (p.Tyr1326=)
c.3915C>T (p.Tyr1305=)
c.3759C>T (p.Tyr1253=)
c.3690C>T (p.Tyr1230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164465G>CCA363616647COL11A2n.678C>G
c.4872C>G (p.Tyr1624Ter)
c.4551C>G (p.Tyr1517Ter)
c.4614C>G (p.Tyr1538Ter)
n.662C>G
c.4026C>G (p.Tyr1342Ter)
c.4158C>G (p.Tyr1386Ter)
c.3978C>G (p.Tyr1326Ter)
c.3915C>G (p.Tyr1305Ter)
c.3759C>G (p.Tyr1253Ter)
c.3690C>G (p.Tyr1230Ter)
6g.33164465G=CA1619889901COL11A2n.678C=
c.4872C= (p.Tyr1624=)
c.4551C= (p.Tyr1517=)
c.4614C= (p.Tyr1538=)
n.662C=
c.4026C= (p.Tyr1342=)
c.4158C= (p.Tyr1386=)
c.3978C= (p.Tyr1326=)
c.3915C= (p.Tyr1305=)
c.3759C= (p.Tyr1253=)
c.3690C= (p.Tyr1230=)
6g.33164465G>TCA363616650COL11A2n.678C>A
c.4872C>A (p.Tyr1624Ter)
c.4551C>A (p.Tyr1517Ter)
c.4614C>A (p.Tyr1538Ter)
n.662C>A
c.4026C>A (p.Tyr1342Ter)
c.4158C>A (p.Tyr1386Ter)
c.3978C>A (p.Tyr1326Ter)
c.3915C>A (p.Tyr1305Ter)
c.3759C>A (p.Tyr1253Ter)
c.3690C>A (p.Tyr1230Ter)
6g.33164466T>ACA363616652COL11A2n.677A>T
c.4871A>T (p.Tyr1624Phe)
c.4550A>T (p.Tyr1517Phe)
c.4613A>T (p.Tyr1538Phe)
n.661A>T
c.4025A>T (p.Tyr1342Phe)
c.4157A>T (p.Tyr1386Phe)
c.3977A>T (p.Tyr1326Phe)
c.3914A>T (p.Tyr1305Phe)
c.3758A>T (p.Tyr1253Phe)
c.3689A>T (p.Tyr1230Phe)
 COSMIC
6g.33164466T>CCA363616654COL11A2n.677A>G
c.4871A>G (p.Tyr1624Cys)
c.4550A>G (p.Tyr1517Cys)
c.4613A>G (p.Tyr1538Cys)
n.661A>G
c.4025A>G (p.Tyr1342Cys)
c.4157A>G (p.Tyr1386Cys)
c.3977A>G (p.Tyr1326Cys)
c.3914A>G (p.Tyr1305Cys)
c.3758A>G (p.Tyr1253Cys)
c.3689A>G (p.Tyr1230Cys)
6g.33164466T>GCA363616656COL11A2n.677A>C
c.4871A>C (p.Tyr1624Ser)
c.4550A>C (p.Tyr1517Ser)
c.4613A>C (p.Tyr1538Ser)
n.661A>C
c.4025A>C (p.Tyr1342Ser)
c.4157A>C (p.Tyr1386Ser)
c.3977A>C (p.Tyr1326Ser)
c.3914A>C (p.Tyr1305Ser)
c.3758A>C (p.Tyr1253Ser)
c.3689A>C (p.Tyr1230Ser)
6g.33164467A>CCA363616664COL11A2n.676T>G
c.4870T>G (p.Tyr1624Asp)
c.4549T>G (p.Tyr1517Asp)
c.4612T>G (p.Tyr1538Asp)
n.660T>G
c.4024T>G (p.Tyr1342Asp)
c.4156T>G (p.Tyr1386Asp)
c.3976T>G (p.Tyr1326Asp)
c.3913T>G (p.Tyr1305Asp)
c.3757T>G (p.Tyr1253Asp)
c.3688T>G (p.Tyr1230Asp)
6g.33164467A>GCA363616661COL11A2n.676T>C
c.4870T>C (p.Tyr1624His)
c.4549T>C (p.Tyr1517His)
c.4612T>C (p.Tyr1538His)
n.660T>C
c.4024T>C (p.Tyr1342His)
c.4156T>C (p.Tyr1386His)
c.3976T>C (p.Tyr1326His)
c.3913T>C (p.Tyr1305His)
c.3757T>C (p.Tyr1253His)
c.3688T>C (p.Tyr1230His)
 gnomAD v4
6g.33164467A>TCA363616660COL11A2n.676T>A
c.4870T>A (p.Tyr1624Asn)
c.4549T>A (p.Tyr1517Asn)
c.4612T>A (p.Tyr1538Asn)
n.660T>A
c.4024T>A (p.Tyr1342Asn)
c.4156T>A (p.Tyr1386Asn)
c.3976T>A (p.Tyr1326Asn)
c.3913T>A (p.Tyr1305Asn)
c.3757T>A (p.Tyr1253Asn)
c.3688T>A (p.Tyr1230Asn)
6g.33164468A=CA1619889903COL11A2n.675T=
c.4869T= (p.Ser1623=)
c.4548T= (p.Ser1516=)
c.4611T= (p.Ser1537=)
n.659T=
c.4023T= (p.Ser1341=)
c.4155T= (p.Ser1385=)
c.3975T= (p.Ser1325=)
c.3912T= (p.Ser1304=)
c.3756T= (p.Ser1252=)
c.3687T= (p.Ser1229=)
6g.33164468A>CCA449867085COL11A2n.675T>G
c.4869T>G (p.Ser1623=)
c.4548T>G (p.Ser1516=)
c.4611T>G (p.Ser1537=)
n.659T>G
c.4023T>G (p.Ser1341=)
c.4155T>G (p.Ser1385=)
c.3975T>G (p.Ser1325=)
c.3912T>G (p.Ser1304=)
c.3756T>G (p.Ser1252=)
c.3687T>G (p.Ser1229=)
6g.33164468A>GCA449867086COL11A2n.675T>C
c.4869T>C (p.Ser1623=)
c.4548T>C (p.Ser1516=)
c.4611T>C (p.Ser1537=)
n.659T>C
c.4023T>C (p.Ser1341=)
c.4155T>C (p.Ser1385=)
c.3975T>C (p.Ser1325=)
c.3912T>C (p.Ser1304=)
c.3756T>C (p.Ser1252=)
c.3687T>C (p.Ser1229=)
 ClinVar dbSNP gnomAD v4
6g.33164468A>TCA449867087COL11A2n.675T>A
c.4869T>A (p.Ser1623=)
c.4548T>A (p.Ser1516=)
c.4611T>A (p.Ser1537=)
n.659T>A
c.4023T>A (p.Ser1341=)
c.4155T>A (p.Ser1385=)
c.3975T>A (p.Ser1325=)
c.3912T>A (p.Ser1304=)
c.3756T>A (p.Ser1252=)
c.3687T>A (p.Ser1229=)
6g.33164469G>ACA363616667COL11A2n.674C>T
c.4868C>T (p.Ser1623Phe)
c.4547C>T (p.Ser1516Phe)
c.4610C>T (p.Ser1537Phe)
n.658C>T
c.4022C>T (p.Ser1341Phe)
c.4154C>T (p.Ser1385Phe)
c.3974C>T (p.Ser1325Phe)
c.3911C>T (p.Ser1304Phe)
c.3755C>T (p.Ser1252Phe)
c.3686C>T (p.Ser1229Phe)
6g.33164469G>CCA363616669COL11A2n.674C>G
c.4868C>G (p.Ser1623Cys)
c.4547C>G (p.Ser1516Cys)
c.4610C>G (p.Ser1537Cys)
n.658C>G
c.4022C>G (p.Ser1341Cys)
c.4154C>G (p.Ser1385Cys)
c.3974C>G (p.Ser1325Cys)
c.3911C>G (p.Ser1304Cys)
c.3755C>G (p.Ser1252Cys)
c.3686C>G (p.Ser1229Cys)
 dbSNP
6g.33164469G>TCA363616671COL11A2n.674C>A
c.4868C>A (p.Ser1623Tyr)
c.4547C>A (p.Ser1516Tyr)
c.4610C>A (p.Ser1537Tyr)
n.658C>A
c.4022C>A (p.Ser1341Tyr)
c.4154C>A (p.Ser1385Tyr)
c.3974C>A (p.Ser1325Tyr)
c.3911C>A (p.Ser1304Tyr)
c.3755C>A (p.Ser1252Tyr)
c.3686C>A (p.Ser1229Tyr)
 gnomAD v4
6g.33164470A>CCA363616673COL11A2n.673T>G
c.4867T>G (p.Ser1623Ala)
c.4546T>G (p.Ser1516Ala)
c.4609T>G (p.Ser1537Ala)
n.657T>G
c.4021T>G (p.Ser1341Ala)
c.4153T>G (p.Ser1385Ala)
c.3973T>G (p.Ser1325Ala)
c.3910T>G (p.Ser1304Ala)
c.3754T>G (p.Ser1252Ala)
c.3685T>G (p.Ser1229Ala)
6g.33164470A>GCA363616676COL11A2n.673T>C
c.4867T>C (p.Ser1623Pro)
c.4546T>C (p.Ser1516Pro)
c.4609T>C (p.Ser1537Pro)
n.657T>C
c.4021T>C (p.Ser1341Pro)
c.4153T>C (p.Ser1385Pro)
c.3973T>C (p.Ser1325Pro)
c.3910T>C (p.Ser1304Pro)
c.3754T>C (p.Ser1252Pro)
c.3685T>C (p.Ser1229Pro)
 gnomAD v4
6g.33164470A>TCA363616679COL11A2n.673T>A
c.4867T>A (p.Ser1623Thr)
c.4546T>A (p.Ser1516Thr)
c.4609T>A (p.Ser1537Thr)
n.657T>A
c.4021T>A (p.Ser1341Thr)
c.4153T>A (p.Ser1385Thr)
c.3973T>A (p.Ser1325Thr)
c.3910T>A (p.Ser1304Thr)
c.3754T>A (p.Ser1252Thr)
c.3685T>A (p.Ser1229Thr)
6g.33164471G>ACA449867088COL11A2n.672C>T
c.4866C>T (p.Phe1622=)
c.4545C>T (p.Phe1515=)
c.4608C>T (p.Phe1536=)
n.656C>T
c.4020C>T (p.Phe1340=)
c.4152C>T (p.Phe1384=)
c.3972C>T (p.Phe1324=)
c.3909C>T (p.Phe1303=)
c.3753C>T (p.Phe1251=)
c.3684C>T (p.Phe1228=)
6g.33164471G>CCA363616682COL11A2n.672C>G
c.4866C>G (p.Phe1622Leu)
c.4545C>G (p.Phe1515Leu)
c.4608C>G (p.Phe1536Leu)
n.656C>G
c.4020C>G (p.Phe1340Leu)
c.4152C>G (p.Phe1384Leu)
c.3972C>G (p.Phe1324Leu)
c.3909C>G (p.Phe1303Leu)
c.3753C>G (p.Phe1251Leu)
c.3684C>G (p.Phe1228Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.33164471G=CA1619889907COL11A2n.672C=
c.4866C= (p.Phe1622=)
c.4545C= (p.Phe1515=)
c.4608C= (p.Phe1536=)
n.656C=
c.4020C= (p.Phe1340=)
c.4152C= (p.Phe1384=)
c.3972C= (p.Phe1324=)
c.3909C= (p.Phe1303=)
c.3753C= (p.Phe1251=)
c.3684C= (p.Phe1228=)
6g.33164471G>TCA363616684COL11A2n.672C>A
c.4866C>A (p.Phe1622Leu)
c.4545C>A (p.Phe1515Leu)
c.4608C>A (p.Phe1536Leu)
n.656C>A
c.4020C>A (p.Phe1340Leu)
c.4152C>A (p.Phe1384Leu)
c.3972C>A (p.Phe1324Leu)
c.3909C>A (p.Phe1303Leu)
c.3753C>A (p.Phe1251Leu)
c.3684C>A (p.Phe1228Leu)
 COSMIC
6g.33164472A>CCA363616686COL11A2n.671T>G
c.4865T>G (p.Phe1622Cys)
c.4544T>G (p.Phe1515Cys)
c.4607T>G (p.Phe1536Cys)
n.655T>G
c.4019T>G (p.Phe1340Cys)
c.4151T>G (p.Phe1384Cys)
c.3971T>G (p.Phe1324Cys)
c.3908T>G (p.Phe1303Cys)
c.3752T>G (p.Phe1251Cys)
c.3683T>G (p.Phe1228Cys)
6g.33164472A>GCA363616689COL11A2n.671T>C
c.4865T>C (p.Phe1622Ser)
c.4544T>C (p.Phe1515Ser)
c.4607T>C (p.Phe1536Ser)
n.655T>C
c.4019T>C (p.Phe1340Ser)
c.4151T>C (p.Phe1384Ser)
c.3971T>C (p.Phe1324Ser)
c.3908T>C (p.Phe1303Ser)
c.3752T>C (p.Phe1251Ser)
c.3683T>C (p.Phe1228Ser)
 COSMIC
6g.33164472A>TCA363616691COL11A2n.671T>A
c.4865T>A (p.Phe1622Tyr)
c.4544T>A (p.Phe1515Tyr)
c.4607T>A (p.Phe1536Tyr)
n.655T>A
c.4019T>A (p.Phe1340Tyr)
c.4151T>A (p.Phe1384Tyr)
c.3971T>A (p.Phe1324Tyr)
c.3908T>A (p.Phe1303Tyr)
c.3752T>A (p.Phe1251Tyr)
c.3683T>A (p.Phe1228Tyr)
6g.33164473A>CCA363616697COL11A2n.670T>G
c.4864T>G (p.Phe1622Val)
c.4543T>G (p.Phe1515Val)
c.4606T>G (p.Phe1536Val)
n.654T>G
c.4018T>G (p.Phe1340Val)
c.4150T>G (p.Phe1384Val)
c.3970T>G (p.Phe1324Val)
c.3907T>G (p.Phe1303Val)
c.3751T>G (p.Phe1251Val)
c.3682T>G (p.Phe1228Val)
6g.33164473A>GCA363616698COL11A2n.670T>C
c.4864T>C (p.Phe1622Leu)
c.4543T>C (p.Phe1515Leu)
c.4606T>C (p.Phe1536Leu)
n.654T>C
c.4018T>C (p.Phe1340Leu)
c.4150T>C (p.Phe1384Leu)
c.3970T>C (p.Phe1324Leu)
c.3907T>C (p.Phe1303Leu)
c.3751T>C (p.Phe1251Leu)
c.3682T>C (p.Phe1228Leu)
6g.33164473A>TCA363616694COL11A2n.670T>A
c.4864T>A (p.Phe1622Ile)
c.4543T>A (p.Phe1515Ile)
c.4606T>A (p.Phe1536Ile)
n.654T>A
c.4018T>A (p.Phe1340Ile)
c.4150T>A (p.Phe1384Ile)
c.3970T>A (p.Phe1324Ile)
c.3907T>A (p.Phe1303Ile)
c.3751T>A (p.Phe1251Ile)
c.3682T>A (p.Phe1228Ile)
6g.33164474C>ACA363616700COL11A2n.670-1G>T
c.4864-1G>T (n.4864-1G>T)
c.4543-1G>T (n.4543-1G>T)
c.4606-1G>T (n.4606-1G>T)
n.654-1G>T
c.4018-1G>T (n.4018-1G>T)
c.4150-1G>T (n.4150-1G>T)
c.3970-1G>T (n.3970-1G>T)
c.3907-1G>T (n.3907-1G>T)
c.3751-1G>T (n.3751-1G>T)
c.3682-1G>T (n.3682-1G>T)
 gnomAD v4
6g.33164474C>GCA363616702COL11A2n.670-1G>C
c.4864-1G>C (n.4864-1G>C)
c.4543-1G>C (n.4543-1G>C)
c.4606-1G>C (n.4606-1G>C)
n.654-1G>C
c.4018-1G>C (n.4018-1G>C)
c.4150-1G>C (n.4150-1G>C)
c.3970-1G>C (n.3970-1G>C)
c.3907-1G>C (n.3907-1G>C)
c.3751-1G>C (n.3751-1G>C)
c.3682-1G>C (n.3682-1G>C)
 ClinVar
6g.33164474C>TCA363616704COL11A2n.670-1G>A
c.4864-1G>A (n.4864-1G>A)
c.4543-1G>A (n.4543-1G>A)
c.4606-1G>A (n.4606-1G>A)
n.654-1G>A
c.4018-1G>A (n.4018-1G>A)
c.4150-1G>A (n.4150-1G>A)
c.3970-1G>A (n.3970-1G>A)
c.3907-1G>A (n.3907-1G>A)
c.3751-1G>A (n.3751-1G>A)
c.3682-1G>A (n.3682-1G>A)
6g.33164475T>ACA363616707COL11A2n.670-2A>T
c.4864-2A>T (n.4864-2A>T)
c.4543-2A>T (n.4543-2A>T)
c.4606-2A>T (n.4606-2A>T)
n.654-2A>T
c.4018-2A>T (n.4018-2A>T)
c.4150-2A>T (n.4150-2A>T)
c.3970-2A>T (n.3970-2A>T)
c.3907-2A>T (n.3907-2A>T)
c.3751-2A>T (n.3751-2A>T)
c.3682-2A>T (n.3682-2A>T)
6g.33164475T>CCA363616716COL11A2n.670-2A>G
c.4864-2A>G (n.4864-2A>G)
c.4543-2A>G (n.4543-2A>G)
c.4606-2A>G (n.4606-2A>G)
n.654-2A>G
c.4018-2A>G (n.4018-2A>G)
c.4150-2A>G (n.4150-2A>G)
c.3970-2A>G (n.3970-2A>G)
c.3907-2A>G (n.3907-2A>G)
c.3751-2A>G (n.3751-2A>G)
c.3682-2A>G (n.3682-2A>G)
6g.33164475T>GCA363616719COL11A2n.670-2A>C
c.4864-2A>C (n.4864-2A>C)
c.4543-2A>C (n.4543-2A>C)
c.4606-2A>C (n.4606-2A>C)
n.654-2A>C
c.4018-2A>C (n.4018-2A>C)
c.4150-2A>C (n.4150-2A>C)
c.3970-2A>C (n.3970-2A>C)
c.3907-2A>C (n.3907-2A>C)
c.3751-2A>C (n.3751-2A>C)
c.3682-2A>C (n.3682-2A>C)
6g.33164476G>ACA2499981840COL11A2n.670-3C>T
c.4864-3C>T (n.4864-3C>T)
c.4543-3C>T (n.4543-3C>T)
c.4606-3C>T (n.4606-3C>T)
n.654-3C>T
c.4018-3C>T (n.4018-3C>T)
c.4150-3C>T (n.4150-3C>T)
c.3970-3C>T (n.3970-3C>T)
c.3907-3C>T (n.3907-3C>T)
c.3751-3C>T (n.3751-3C>T)
c.3682-3C>T (n.3682-3C>T)
 gnomAD v4
6g.33164477G>ACA2504784716COL11A2n.670-4C>T
c.4864-4C>T (n.4864-4C>T)
c.4543-4C>T (n.4543-4C>T)
c.4606-4C>T (n.4606-4C>T)
n.654-4C>T
c.4018-4C>T (n.4018-4C>T)
c.4150-4C>T (n.4150-4C>T)
c.3970-4C>T (n.3970-4C>T)
c.3907-4C>T (n.3907-4C>T)
c.3751-4C>T (n.3751-4C>T)
c.3682-4C>T (n.3682-4C>T)
6g.33164477G=CA1619889912COL11A2n.670-4C=
c.4864-4C= (n.4864-4C=)
c.4543-4C= (n.4543-4C=)
c.4606-4C= (n.4606-4C=)
n.654-4C=
c.4018-4C= (n.4018-4C=)
c.4150-4C= (n.4150-4C=)
c.3970-4C= (n.3970-4C=)
c.3907-4C= (n.3907-4C=)
c.3751-4C= (n.3751-4C=)
c.3682-4C= (n.3682-4C=)
6g.33164477G>TCA3749965COL11A2n.670-4C>A
c.4864-4C>A (n.4864-4C>A)
c.4543-4C>A (n.4543-4C>A)
c.4606-4C>A (n.4606-4C>A)
n.654-4C>A
c.4018-4C>A (n.4018-4C>A)
c.4150-4C>A (n.4150-4C>A)
c.3970-4C>A (n.3970-4C>A)
c.3907-4C>A (n.3907-4C>A)
c.3751-4C>A (n.3751-4C>A)
c.3682-4C>A (n.3682-4C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164478A>CCA2739273021COL11A2n.670-5T>G
c.4864-5T>G (n.4864-5T>G)
c.4543-5T>G (n.4543-5T>G)
c.4606-5T>G (n.4606-5T>G)
n.654-5T>G
c.4018-5T>G (n.4018-5T>G)
c.4150-5T>G (n.4150-5T>G)
c.3970-5T>G (n.3970-5T>G)
c.3907-5T>G (n.3907-5T>G)
c.3751-5T>G (n.3751-5T>G)
c.3682-5T>G (n.3682-5T>G)
 ClinVar
6g.33164478A>GCA2678226375COL11A2n.670-5T>C
c.4864-5T>C (n.4864-5T>C)
c.4543-5T>C (n.4543-5T>C)
c.4606-5T>C (n.4606-5T>C)
n.654-5T>C
c.4018-5T>C (n.4018-5T>C)
c.4150-5T>C (n.4150-5T>C)
c.3970-5T>C (n.3970-5T>C)
c.3907-5T>C (n.3907-5T>C)
c.3751-5T>C (n.3751-5T>C)
c.3682-5T>C (n.3682-5T>C)
 gnomAD v4
6g.33164479A>GCA2678226376COL11A2n.670-6T>C
c.4864-6T>C (n.4864-6T>C)
c.4543-6T>C (n.4543-6T>C)
c.4606-6T>C (n.4606-6T>C)
n.654-6T>C
c.4018-6T>C (n.4018-6T>C)
c.4150-6T>C (n.4150-6T>C)
c.3970-6T>C (n.3970-6T>C)
c.3907-6T>C (n.3907-6T>C)
c.3751-6T>C (n.3751-6T>C)
c.3682-6T>C (n.3682-6T>C)
 gnomAD v4
6g.33164479_33164505delinsAGGAGAGAGAGGGCTGGCCTCAGAGGGCA1619889914COL11A2n.670-32_670-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT
c.4864-32_4864-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4864-32_4864-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
c.4543-32_4543-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4543-32_4543-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
c.4606-32_4606-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4606-32_4606-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
n.654-32_654-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT
c.4018-32_4018-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4018-32_4018-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
c.4150-32_4150-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4150-32_4150-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
c.3970-32_3970-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3970-32_3970-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
c.3907-32_3907-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3907-32_3907-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
c.3751-32_3751-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3751-32_3751-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
c.3682-32_3682-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3682-32_3682-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT)
6g.33164480G>ACA1619889922COL11A2n.670-7C>T
c.4864-7C>T (n.4864-7C>T)
c.4543-7C>T (n.4543-7C>T)
c.4606-7C>T (n.4606-7C>T)
n.654-7C>T
c.4018-7C>T (n.4018-7C>T)
c.4150-7C>T (n.4150-7C>T)
c.3970-7C>T (n.3970-7C>T)
c.3907-7C>T (n.3907-7C>T)
c.3751-7C>T (n.3751-7C>T)
c.3682-7C>T (n.3682-7C>T)
 dbSNP gnomAD v4
6g.33164480G=CA1619889923COL11A2n.670-7C=
c.4864-7C= (n.4864-7C=)
c.4543-7C= (n.4543-7C=)
c.4606-7C= (n.4606-7C=)
n.654-7C=
c.4018-7C= (n.4018-7C=)
c.4150-7C= (n.4150-7C=)
c.3970-7C= (n.3970-7C=)
c.3907-7C= (n.3907-7C=)
c.3751-7C= (n.3751-7C=)
c.3682-7C= (n.3682-7C=)
6g.33164480_33164484delinsGGAGACA1619889924COL11A2n.670-11_670-7delinsTCTCC
c.4864-11_4864-7delinsTCTCC (n.4864-11_4864-7delinsTCTCC)
c.4543-11_4543-7delinsTCTCC (n.4543-11_4543-7delinsTCTCC)
c.4606-11_4606-7delinsTCTCC (n.4606-11_4606-7delinsTCTCC)
n.654-11_654-7delinsTCTCC
c.4018-11_4018-7delinsTCTCC (n.4018-11_4018-7delinsTCTCC)
c.4150-11_4150-7delinsTCTCC (n.4150-11_4150-7delinsTCTCC)
c.3970-11_3970-7delinsTCTCC (n.3970-11_3970-7delinsTCTCC)
c.3907-11_3907-7delinsTCTCC (n.3907-11_3907-7delinsTCTCC)
c.3751-11_3751-7delinsTCTCC (n.3751-11_3751-7delinsTCTCC)
c.3682-11_3682-7delinsTCTCC (n.3682-11_3682-7delinsTCTCC)
6g.33164501_33164502insGGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGCA2678226379COL11A2n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC
c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC
c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC)
 gnomAD v4
6g.33164503_33164504insTGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGCA2678226378COL11A2n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC
c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC
c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC)
 gnomAD v4
6g.33164509_33164510insGGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGCA2678226377COL11A2n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC
c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC
c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC)
 gnomAD v4
6g.33164506_33164531dupCA566698792COL11A2n.670-32_670-7dup
c.4864-32_4864-7dup (n.4864-32_4864-7dup)
c.4543-32_4543-7dup (n.4543-32_4543-7dup)
c.4606-32_4606-7dup (n.4606-32_4606-7dup)
n.654-32_654-7dup
c.4018-32_4018-7dup (n.4018-32_4018-7dup)
c.4150-32_4150-7dup (n.4150-32_4150-7dup)
c.3970-32_3970-7dup (n.3970-32_3970-7dup)
c.3907-32_3907-7dup (n.3907-32_3907-7dup)
c.3751-32_3751-7dup (n.3751-32_3751-7dup)
c.3682-32_3682-7dup (n.3682-32_3682-7dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164480_33164531dupCA566698793COL11A2n.670-58_670-7dup
c.4864-58_4864-7dup (n.4864-58_4864-7dup)
c.4543-58_4543-7dup (n.4543-58_4543-7dup)
c.4606-58_4606-7dup (n.4606-58_4606-7dup)
n.654-58_654-7dup
c.4018-58_4018-7dup (n.4018-58_4018-7dup)
c.4150-58_4150-7dup (n.4150-58_4150-7dup)
c.3970-58_3970-7dup (n.3970-58_3970-7dup)
c.3907-58_3907-7dup (n.3907-58_3907-7dup)
c.3751-58_3751-7dup (n.3751-58_3751-7dup)
c.3682-58_3682-7dup (n.3682-58_3682-7dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164506_33164531delCA3749966COL11A2n.670-32_670-7del
c.4864-32_4864-7del (n.4864-32_4864-7del)
c.4543-32_4543-7del (n.4543-32_4543-7del)
c.4606-32_4606-7del (n.4606-32_4606-7del)
n.654-32_654-7del
c.4018-32_4018-7del (n.4018-32_4018-7del)
c.4150-32_4150-7del (n.4150-32_4150-7del)
c.3970-32_3970-7del (n.3970-32_3970-7del)
c.3907-32_3907-7del (n.3907-32_3907-7del)
c.3751-32_3751-7del (n.3751-32_3751-7del)
c.3682-32_3682-7del (n.3682-32_3682-7del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164481G>ACA824029585COL11A2n.670-8C>T
c.4864-8C>T (n.4864-8C>T)
c.4543-8C>T (n.4543-8C>T)
c.4606-8C>T (n.4606-8C>T)
n.654-8C>T
c.4018-8C>T (n.4018-8C>T)
c.4150-8C>T (n.4150-8C>T)
c.3970-8C>T (n.3970-8C>T)
c.3907-8C>T (n.3907-8C>T)
c.3751-8C>T (n.3751-8C>T)
c.3682-8C>T (n.3682-8C>T)
 ClinVar dbSNP
6g.33164481G>CCA2578581071COL11A2n.670-8C>G
c.4864-8C>G (n.4864-8C>G)
c.4543-8C>G (n.4543-8C>G)
c.4606-8C>G (n.4606-8C>G)
n.654-8C>G
c.4018-8C>G (n.4018-8C>G)
c.4150-8C>G (n.4150-8C>G)
c.3970-8C>G (n.3970-8C>G)
c.3907-8C>G (n.3907-8C>G)
c.3751-8C>G (n.3751-8C>G)
c.3682-8C>G (n.3682-8C>G)
 gnomAD v4
6g.33164481G=CA1619889932COL11A2n.670-8C=
c.4864-8C= (n.4864-8C=)
c.4543-8C= (n.4543-8C=)
c.4606-8C= (n.4606-8C=)
n.654-8C=
c.4018-8C= (n.4018-8C=)
c.4150-8C= (n.4150-8C=)
c.3970-8C= (n.3970-8C=)
c.3907-8C= (n.3907-8C=)
c.3751-8C= (n.3751-8C=)
c.3682-8C= (n.3682-8C=)
6g.33164488_33164489delCA2678226380COL11A2n.670-9_670-8del
c.4864-9_4864-8del (n.4864-9_4864-8del)
c.4543-9_4543-8del (n.4543-9_4543-8del)
c.4606-9_4606-8del (n.4606-9_4606-8del)
n.654-9_654-8del
c.4018-9_4018-8del (n.4018-9_4018-8del)
c.4150-9_4150-8del (n.4150-9_4150-8del)
c.3970-9_3970-8del (n.3970-9_3970-8del)
c.3907-9_3907-8del (n.3907-9_3907-8del)
c.3751-9_3751-8del (n.3751-9_3751-8del)
c.3682-9_3682-8del (n.3682-9_3682-8del)
 ClinVar gnomAD v4
6g.33164486_33164489delCA3749967COL11A2n.670-11_670-8del
c.4864-11_4864-8del (n.4864-11_4864-8del)
c.4543-11_4543-8del (n.4543-11_4543-8del)
c.4606-11_4606-8del (n.4606-11_4606-8del)
n.654-11_654-8del
c.4018-11_4018-8del (n.4018-11_4018-8del)
c.4150-11_4150-8del (n.4150-11_4150-8del)
c.3970-11_3970-8del (n.3970-11_3970-8del)
c.3907-11_3907-8del (n.3907-11_3907-8del)
c.3751-11_3751-8del (n.3751-11_3751-8del)
c.3682-11_3682-8del (n.3682-11_3682-8del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164482A=CA1619889936COL11A2n.670-9T=
c.4864-9T= (n.4864-9T=)
c.4543-9T= (n.4543-9T=)
c.4606-9T= (n.4606-9T=)
n.654-9T=
c.4018-9T= (n.4018-9T=)
c.4150-9T= (n.4150-9T=)
c.3970-9T= (n.3970-9T=)
c.3907-9T= (n.3907-9T=)
c.3751-9T= (n.3751-9T=)
c.3682-9T= (n.3682-9T=)
6g.33164482A>GCA3749968COL11A2n.670-9T>C
c.4864-9T>C (n.4864-9T>C)
c.4543-9T>C (n.4543-9T>C)
c.4606-9T>C (n.4606-9T>C)
n.654-9T>C
c.4018-9T>C (n.4018-9T>C)
c.4150-9T>C (n.4150-9T>C)
c.3970-9T>C (n.3970-9T>C)
c.3907-9T>C (n.3907-9T>C)
c.3751-9T>C (n.3751-9T>C)
c.3682-9T>C (n.3682-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164483G>CCA3749969COL11A2n.670-10C>G
c.4864-10C>G (n.4864-10C>G)
c.4543-10C>G (n.4543-10C>G)
c.4606-10C>G (n.4606-10C>G)
n.654-10C>G
c.4018-10C>G (n.4018-10C>G)
c.4150-10C>G (n.4150-10C>G)
c.3970-10C>G (n.3970-10C>G)
c.3907-10C>G (n.3907-10C>G)
c.3751-10C>G (n.3751-10C>G)
c.3682-10C>G (n.3682-10C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164483G=CA1619889938COL11A2n.670-10C=
c.4864-10C= (n.4864-10C=)
c.4543-10C= (n.4543-10C=)
c.4606-10C= (n.4606-10C=)
n.654-10C=
c.4018-10C= (n.4018-10C=)
c.4150-10C= (n.4150-10C=)
c.3970-10C= (n.3970-10C=)
c.3907-10C= (n.3907-10C=)
c.3751-10C= (n.3751-10C=)
c.3682-10C= (n.3682-10C=)
6g.33164484A>GCA2678226381COL11A2n.670-11T>C
c.4864-11T>C (n.4864-11T>C)
c.4543-11T>C (n.4543-11T>C)
c.4606-11T>C (n.4606-11T>C)
n.654-11T>C
c.4018-11T>C (n.4018-11T>C)
c.4150-11T>C (n.4150-11T>C)
c.3970-11T>C (n.3970-11T>C)
c.3907-11T>C (n.3907-11T>C)
c.3751-11T>C (n.3751-11T>C)
c.3682-11T>C (n.3682-11T>C)
 gnomAD v4
6g.33164484A>TCA2678226382COL11A2n.670-11T>A
c.4864-11T>A (n.4864-11T>A)
c.4543-11T>A (n.4543-11T>A)
c.4606-11T>A (n.4606-11T>A)
n.654-11T>A
c.4018-11T>A (n.4018-11T>A)
c.4150-11T>A (n.4150-11T>A)
c.3970-11T>A (n.3970-11T>A)
c.3907-11T>A (n.3907-11T>A)
c.3751-11T>A (n.3751-11T>A)
c.3682-11T>A (n.3682-11T>A)
 gnomAD v4
6g.33164485G>ACA1087647527COL11A2n.670-12C>T
c.4864-12C>T (n.4864-12C>T)
c.4543-12C>T (n.4543-12C>T)
c.4606-12C>T (n.4606-12C>T)
n.654-12C>T
c.4018-12C>T (n.4018-12C>T)
c.4150-12C>T (n.4150-12C>T)
c.3970-12C>T (n.3970-12C>T)
c.3907-12C>T (n.3907-12C>T)
c.3751-12C>T (n.3751-12C>T)
c.3682-12C>T (n.3682-12C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33164485G=CA1619889940COL11A2n.670-12C=
c.4864-12C= (n.4864-12C=)
c.4543-12C= (n.4543-12C=)
c.4606-12C= (n.4606-12C=)
n.654-12C=
c.4018-12C= (n.4018-12C=)
c.4150-12C= (n.4150-12C=)
c.3970-12C= (n.3970-12C=)
c.3907-12C= (n.3907-12C=)
c.3751-12C= (n.3751-12C=)
c.3682-12C= (n.3682-12C=)
6g.33164489G>CCA566698794COL11A2n.670-16C>G
c.4864-16C>G (n.4864-16C>G)
c.4543-16C>G (n.4543-16C>G)
c.4606-16C>G (n.4606-16C>G)
n.654-16C>G
c.4018-16C>G (n.4018-16C>G)
c.4150-16C>G (n.4150-16C>G)
c.3970-16C>G (n.3970-16C>G)
c.3907-16C>G (n.3907-16C>G)
c.3751-16C>G (n.3751-16C>G)
c.3682-16C>G (n.3682-16C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164489G=CA1619889942COL11A2n.670-16C=
c.4864-16C= (n.4864-16C=)
c.4543-16C= (n.4543-16C=)
c.4606-16C= (n.4606-16C=)
n.654-16C=
c.4018-16C= (n.4018-16C=)
c.4150-16C= (n.4150-16C=)
c.3970-16C= (n.3970-16C=)
c.3907-16C= (n.3907-16C=)
c.3751-16C= (n.3751-16C=)
c.3682-16C= (n.3682-16C=)
6g.33164489G>TCA2678226384COL11A2n.670-16C>A
c.4864-16C>A (n.4864-16C>A)
c.4543-16C>A (n.4543-16C>A)
c.4606-16C>A (n.4606-16C>A)
n.654-16C>A
c.4018-16C>A (n.4018-16C>A)
c.4150-16C>A (n.4150-16C>A)
c.3970-16C>A (n.3970-16C>A)
c.3907-16C>A (n.3907-16C>A)
c.3751-16C>A (n.3751-16C>A)
c.3682-16C>A (n.3682-16C>A)
 gnomAD v4
6g.33164491dupCA2678226383COL11A2n.670-16dup
c.4864-16dup (n.4864-16dup)
c.4543-16dup (n.4543-16dup)
c.4606-16dup (n.4606-16dup)
n.654-16dup
c.4018-16dup (n.4018-16dup)
c.4150-16dup (n.4150-16dup)
c.3970-16dup (n.3970-16dup)
c.3907-16dup (n.3907-16dup)
c.3751-16dup (n.3751-16dup)
c.3682-16dup (n.3682-16dup)
 ClinVar gnomAD v4
6g.33164491delCA2697553314COL11A2n.670-16del
c.4864-16del (n.4864-16del)
c.4543-16del (n.4543-16del)
c.4606-16del (n.4606-16del)
n.654-16del
c.4018-16del (n.4018-16del)
c.4150-16del (n.4150-16del)
c.3970-16del (n.3970-16del)
c.3907-16del (n.3907-16del)
c.3751-16del (n.3751-16del)
c.3682-16del (n.3682-16del)
 ClinVar
6g.33164490G>ACA2678226385COL11A2n.670-17C>T
c.4864-17C>T (n.4864-17C>T)
c.4543-17C>T (n.4543-17C>T)
c.4606-17C>T (n.4606-17C>T)
n.654-17C>T
c.4018-17C>T (n.4018-17C>T)
c.4150-17C>T (n.4150-17C>T)
c.3970-17C>T (n.3970-17C>T)
c.3907-17C>T (n.3907-17C>T)
c.3751-17C>T (n.3751-17C>T)
c.3682-17C>T (n.3682-17C>T)
 gnomAD v4
6g.33164490G>CCA2678226386COL11A2n.670-17C>G
c.4864-17C>G (n.4864-17C>G)
c.4543-17C>G (n.4543-17C>G)
c.4606-17C>G (n.4606-17C>G)
n.654-17C>G
c.4018-17C>G (n.4018-17C>G)
c.4150-17C>G (n.4150-17C>G)
c.3970-17C>G (n.3970-17C>G)
c.3907-17C>G (n.3907-17C>G)
c.3751-17C>G (n.3751-17C>G)
c.3682-17C>G (n.3682-17C>G)
 dbSNP gnomAD v4
6g.33164490G=CA1619889945COL11A2n.670-17C=
c.4864-17C= (n.4864-17C=)
c.4543-17C= (n.4543-17C=)
c.4606-17C= (n.4606-17C=)
n.654-17C=
c.4018-17C= (n.4018-17C=)
c.4150-17C= (n.4150-17C=)
c.3970-17C= (n.3970-17C=)
c.3907-17C= (n.3907-17C=)
c.3751-17C= (n.3751-17C=)
c.3682-17C= (n.3682-17C=)
6g.33164490G>TCA1087647528COL11A2n.670-17C>A
c.4864-17C>A (n.4864-17C>A)
c.4543-17C>A (n.4543-17C>A)
c.4606-17C>A (n.4606-17C>A)
n.654-17C>A
c.4018-17C>A (n.4018-17C>A)
c.4150-17C>A (n.4150-17C>A)
c.3970-17C>A (n.3970-17C>A)
c.3907-17C>A (n.3907-17C>A)
c.3751-17C>A (n.3751-17C>A)
c.3682-17C>A (n.3682-17C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.33164491G>ACA1619889950COL11A2n.670-18C>T
c.4864-18C>T (n.4864-18C>T)
c.4543-18C>T (n.4543-18C>T)
c.4606-18C>T (n.4606-18C>T)
n.654-18C>T
c.4018-18C>T (n.4018-18C>T)
c.4150-18C>T (n.4150-18C>T)
c.3970-18C>T (n.3970-18C>T)
c.3907-18C>T (n.3907-18C>T)
c.3751-18C>T (n.3751-18C>T)
c.3682-18C>T (n.3682-18C>T)
 dbSNP gnomAD v4
6g.33164491G=CA1619889948COL11A2n.670-18C=
c.4864-18C= (n.4864-18C=)
c.4543-18C= (n.4543-18C=)
c.4606-18C= (n.4606-18C=)
n.654-18C=
c.4018-18C= (n.4018-18C=)
c.4150-18C= (n.4150-18C=)
c.3970-18C= (n.3970-18C=)
c.3907-18C= (n.3907-18C=)
c.3751-18C= (n.3751-18C=)
c.3682-18C= (n.3682-18C=)
6g.33164491G>TCA824029589COL11A2n.670-18C>A
c.4864-18C>A (n.4864-18C>A)
c.4543-18C>A (n.4543-18C>A)
c.4606-18C>A (n.4606-18C>A)
n.654-18C>A
c.4018-18C>A (n.4018-18C>A)
c.4150-18C>A (n.4150-18C>A)
c.3970-18C>A (n.3970-18C>A)
c.3907-18C>A (n.3907-18C>A)
c.3751-18C>A (n.3751-18C>A)
c.3682-18C>A (n.3682-18C>A)
 dbSNP
6g.33164492C>ACA2678226388COL11A2n.670-19G>T
c.4864-19G>T (n.4864-19G>T)
c.4543-19G>T (n.4543-19G>T)
c.4606-19G>T (n.4606-19G>T)
n.654-19G>T
c.4018-19G>T (n.4018-19G>T)
c.4150-19G>T (n.4150-19G>T)
c.3970-19G>T (n.3970-19G>T)
c.3907-19G>T (n.3907-19G>T)
c.3751-19G>T (n.3751-19G>T)
c.3682-19G>T (n.3682-19G>T)
 gnomAD v4
6g.33164492C>TCA2678226387COL11A2n.670-19G>A
c.4864-19G>A (n.4864-19G>A)
c.4543-19G>A (n.4543-19G>A)
c.4606-19G>A (n.4606-19G>A)
n.654-19G>A
c.4018-19G>A (n.4018-19G>A)
c.4150-19G>A (n.4150-19G>A)
c.3970-19G>A (n.3970-19G>A)
c.3907-19G>A (n.3907-19G>A)
c.3751-19G>A (n.3751-19G>A)
c.3682-19G>A (n.3682-19G>A)
 gnomAD v4
6g.33164493T>ACA2678226390COL11A2n.670-20A>T
c.4864-20A>T (n.4864-20A>T)
c.4543-20A>T (n.4543-20A>T)
c.4606-20A>T (n.4606-20A>T)
n.654-20A>T
c.4018-20A>T (n.4018-20A>T)
c.4150-20A>T (n.4150-20A>T)
c.3970-20A>T (n.3970-20A>T)
c.3907-20A>T (n.3907-20A>T)
c.3751-20A>T (n.3751-20A>T)
c.3682-20A>T (n.3682-20A>T)
 gnomAD v4
6g.33164493T>CCA2578581072COL11A2n.670-20A>G
c.4864-20A>G (n.4864-20A>G)
c.4543-20A>G (n.4543-20A>G)
c.4606-20A>G (n.4606-20A>G)
n.654-20A>G
c.4018-20A>G (n.4018-20A>G)
c.4150-20A>G (n.4150-20A>G)
c.3970-20A>G (n.3970-20A>G)
c.3907-20A>G (n.3907-20A>G)
c.3751-20A>G (n.3751-20A>G)
c.3682-20A>G (n.3682-20A>G)
6g.33164494G>ACA824029591COL11A2n.670-21C>T
c.4864-21C>T (n.4864-21C>T)
c.4543-21C>T (n.4543-21C>T)
c.4606-21C>T (n.4606-21C>T)
n.654-21C>T
c.4018-21C>T (n.4018-21C>T)
c.4150-21C>T (n.4150-21C>T)
c.3970-21C>T (n.3970-21C>T)
c.3907-21C>T (n.3907-21C>T)
c.3751-21C>T (n.3751-21C>T)
c.3682-21C>T (n.3682-21C>T)
 dbSNP gnomAD v4
6g.33164494G>CCA2578581073COL11A2n.670-21C>G
c.4864-21C>G (n.4864-21C>G)
c.4543-21C>G (n.4543-21C>G)
c.4606-21C>G (n.4606-21C>G)
n.654-21C>G
c.4018-21C>G (n.4018-21C>G)
c.4150-21C>G (n.4150-21C>G)
c.3970-21C>G (n.3970-21C>G)
c.3907-21C>G (n.3907-21C>G)
c.3751-21C>G (n.3751-21C>G)
c.3682-21C>G (n.3682-21C>G)
6g.33164494G=CA1619889952COL11A2n.670-21C=
c.4864-21C= (n.4864-21C=)
c.4543-21C= (n.4543-21C=)
c.4606-21C= (n.4606-21C=)
n.654-21C=
c.4018-21C= (n.4018-21C=)
c.4150-21C= (n.4150-21C=)
c.3970-21C= (n.3970-21C=)
c.3907-21C= (n.3907-21C=)
c.3751-21C= (n.3751-21C=)
c.3682-21C= (n.3682-21C=)
6g.33164494G>TCA1087647530COL11A2n.670-21C>A
c.4864-21C>A (n.4864-21C>A)
c.4543-21C>A (n.4543-21C>A)
c.4606-21C>A (n.4606-21C>A)
n.654-21C>A
c.4018-21C>A (n.4018-21C>A)
c.4150-21C>A (n.4150-21C>A)
c.3970-21C>A (n.3970-21C>A)
c.3907-21C>A (n.3907-21C>A)
c.3751-21C>A (n.3751-21C>A)
c.3682-21C>A (n.3682-21C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.33164495G>ACA3749970COL11A2n.670-22C>T
c.4864-22C>T (n.4864-22C>T)
c.4543-22C>T (n.4543-22C>T)
c.4606-22C>T (n.4606-22C>T)
n.654-22C>T
c.4018-22C>T (n.4018-22C>T)
c.4150-22C>T (n.4150-22C>T)
c.3970-22C>T (n.3970-22C>T)
c.3907-22C>T (n.3907-22C>T)
c.3751-22C>T (n.3751-22C>T)
c.3682-22C>T (n.3682-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164495G>CCA1087647536COL11A2n.670-22C>G
c.4864-22C>G (n.4864-22C>G)
c.4543-22C>G (n.4543-22C>G)
c.4606-22C>G (n.4606-22C>G)
n.654-22C>G
c.4018-22C>G (n.4018-22C>G)
c.4150-22C>G (n.4150-22C>G)
c.3970-22C>G (n.3970-22C>G)
c.3907-22C>G (n.3907-22C>G)
c.3751-22C>G (n.3751-22C>G)
c.3682-22C>G (n.3682-22C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.33164495G=CA1619889956COL11A2n.670-22C=
c.4864-22C= (n.4864-22C=)
c.4543-22C= (n.4543-22C=)
c.4606-22C= (n.4606-22C=)
n.654-22C=
c.4018-22C= (n.4018-22C=)
c.4150-22C= (n.4150-22C=)
c.3970-22C= (n.3970-22C=)
c.3907-22C= (n.3907-22C=)
c.3751-22C= (n.3751-22C=)
c.3682-22C= (n.3682-22C=)
6g.33164496C>ACA2678226392COL11A2n.670-23G>T
c.4864-23G>T (n.4864-23G>T)
c.4543-23G>T (n.4543-23G>T)
c.4606-23G>T (n.4606-23G>T)
n.654-23G>T
c.4018-23G>T (n.4018-23G>T)
c.4150-23G>T (n.4150-23G>T)
c.3970-23G>T (n.3970-23G>T)
c.3907-23G>T (n.3907-23G>T)
c.3751-23G>T (n.3751-23G>T)
c.3682-23G>T (n.3682-23G>T)
 gnomAD v4
6g.33164496_33164499delCA2678226391COL11A2n.670-26_670-23del
c.4864-26_4864-23del (n.4864-26_4864-23del)
c.4543-26_4543-23del (n.4543-26_4543-23del)
c.4606-26_4606-23del (n.4606-26_4606-23del)
n.654-26_654-23del
c.4018-26_4018-23del (n.4018-26_4018-23del)
c.4150-26_4150-23del (n.4150-26_4150-23del)
c.3970-26_3970-23del (n.3970-26_3970-23del)
c.3907-26_3907-23del (n.3907-26_3907-23del)
c.3751-26_3751-23del (n.3751-26_3751-23del)
c.3682-26_3682-23del (n.3682-26_3682-23del)
 gnomAD v4
6g.33164497C>ACA2578581074COL11A2n.670-24G>T
c.4864-24G>T (n.4864-24G>T)
c.4543-24G>T (n.4543-24G>T)
c.4606-24G>T (n.4606-24G>T)
n.654-24G>T
c.4018-24G>T (n.4018-24G>T)
c.4150-24G>T (n.4150-24G>T)
c.3970-24G>T (n.3970-24G>T)
c.3907-24G>T (n.3907-24G>T)
c.3751-24G>T (n.3751-24G>T)
c.3682-24G>T (n.3682-24G>T)
6g.33164497C=CA1619889959COL11A2n.670-24G=
c.4864-24G= (n.4864-24G=)
c.4543-24G= (n.4543-24G=)
c.4606-24G= (n.4606-24G=)
n.654-24G=
c.4018-24G= (n.4018-24G=)
c.4150-24G= (n.4150-24G=)
c.3970-24G= (n.3970-24G=)
c.3907-24G= (n.3907-24G=)
c.3751-24G= (n.3751-24G=)
c.3682-24G= (n.3682-24G=)
6g.33164497C>TCA3749971COL11A2n.670-24G>A
c.4864-24G>A (n.4864-24G>A)
c.4543-24G>A (n.4543-24G>A)
c.4606-24G>A (n.4606-24G>A)
n.654-24G>A
c.4018-24G>A (n.4018-24G>A)
c.4150-24G>A (n.4150-24G>A)
c.3970-24G>A (n.3970-24G>A)
c.3907-24G>A (n.3907-24G>A)
c.3751-24G>A (n.3751-24G>A)
c.3682-24G>A (n.3682-24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164499C>ACA2678226394COL11A2n.670-26G>T
c.4864-26G>T (n.4864-26G>T)
c.4543-26G>T (n.4543-26G>T)
c.4606-26G>T (n.4606-26G>T)
n.654-26G>T
c.4018-26G>T (n.4018-26G>T)
c.4150-26G>T (n.4150-26G>T)
c.3970-26G>T (n.3970-26G>T)
c.3907-26G>T (n.3907-26G>T)
c.3751-26G>T (n.3751-26G>T)
c.3682-26G>T (n.3682-26G>T)
 gnomAD v4
6g.33164499C=CA1619889961COL11A2n.670-26G=
c.4864-26G= (n.4864-26G=)
c.4543-26G= (n.4543-26G=)
c.4606-26G= (n.4606-26G=)
n.654-26G=
c.4018-26G= (n.4018-26G=)
c.4150-26G= (n.4150-26G=)
c.3970-26G= (n.3970-26G=)
c.3907-26G= (n.3907-26G=)
c.3751-26G= (n.3751-26G=)
c.3682-26G= (n.3682-26G=)
6g.33164499C>GCA3749972COL11A2n.670-26G>C
c.4864-26G>C (n.4864-26G>C)
c.4543-26G>C (n.4543-26G>C)
c.4606-26G>C (n.4606-26G>C)
n.654-26G>C
c.4018-26G>C (n.4018-26G>C)
c.4150-26G>C (n.4150-26G>C)
c.3970-26G>C (n.3970-26G>C)
c.3907-26G>C (n.3907-26G>C)
c.3751-26G>C (n.3751-26G>C)
c.3682-26G>C (n.3682-26G>C)
 dbSNP ExAC gnomAD v4
6g.33164499C>TCA2578581075COL11A2n.670-26G>A
c.4864-26G>A (n.4864-26G>A)
c.4543-26G>A (n.4543-26G>A)
c.4606-26G>A (n.4606-26G>A)
n.654-26G>A
c.4018-26G>A (n.4018-26G>A)
c.4150-26G>A (n.4150-26G>A)
c.3970-26G>A (n.3970-26G>A)
c.3907-26G>A (n.3907-26G>A)
c.3751-26G>A (n.3751-26G>A)
c.3682-26G>A (n.3682-26G>A)
6g.33164500A>GCA2678226396COL11A2n.670-27T>C
c.4864-27T>C (n.4864-27T>C)
c.4543-27T>C (n.4543-27T>C)
c.4606-27T>C (n.4606-27T>C)
n.654-27T>C
c.4018-27T>C (n.4018-27T>C)
c.4150-27T>C (n.4150-27T>C)
c.3970-27T>C (n.3970-27T>C)
c.3907-27T>C (n.3907-27T>C)
c.3751-27T>C (n.3751-27T>C)
c.3682-27T>C (n.3682-27T>C)
 gnomAD v4
6g.33164502_33164503delCA2678226395COL11A2n.670-28_670-27del
c.4864-28_4864-27del (n.4864-28_4864-27del)
c.4543-28_4543-27del (n.4543-28_4543-27del)
c.4606-28_4606-27del (n.4606-28_4606-27del)
n.654-28_654-27del
c.4018-28_4018-27del (n.4018-28_4018-27del)
c.4150-28_4150-27del (n.4150-28_4150-27del)
c.3970-28_3970-27del (n.3970-28_3970-27del)
c.3907-28_3907-27del (n.3907-28_3907-27del)
c.3751-28_3751-27del (n.3751-28_3751-27del)
c.3682-28_3682-27del (n.3682-28_3682-27del)
 gnomAD v4
6g.33164501G>CCA1619889966COL11A2n.670-28C>G
c.4864-28C>G (n.4864-28C>G)
c.4543-28C>G (n.4543-28C>G)
c.4606-28C>G (n.4606-28C>G)
n.654-28C>G
c.4018-28C>G (n.4018-28C>G)
c.4150-28C>G (n.4150-28C>G)
c.3970-28C>G (n.3970-28C>G)
c.3907-28C>G (n.3907-28C>G)
c.3751-28C>G (n.3751-28C>G)
c.3682-28C>G (n.3682-28C>G)
 dbSNP
6g.33164501G=CA1619889964COL11A2n.670-28C=
c.4864-28C= (n.4864-28C=)
c.4543-28C= (n.4543-28C=)
c.4606-28C= (n.4606-28C=)
n.654-28C=
c.4018-28C= (n.4018-28C=)
c.4150-28C= (n.4150-28C=)
c.3970-28C= (n.3970-28C=)
c.3907-28C= (n.3907-28C=)
c.3751-28C= (n.3751-28C=)
c.3682-28C= (n.3682-28C=)
6g.33164502A>GCA2678226397COL11A2n.670-29T>C
c.4864-29T>C (n.4864-29T>C)
c.4543-29T>C (n.4543-29T>C)
c.4606-29T>C (n.4606-29T>C)
n.654-29T>C
c.4018-29T>C (n.4018-29T>C)
c.4150-29T>C (n.4150-29T>C)
c.3970-29T>C (n.3970-29T>C)
c.3907-29T>C (n.3907-29T>C)
c.3751-29T>C (n.3751-29T>C)
c.3682-29T>C (n.3682-29T>C)
 gnomAD v4
6g.33164502A>TCA2678226398COL11A2n.670-29T>A
c.4864-29T>A (n.4864-29T>A)
c.4543-29T>A (n.4543-29T>A)
c.4606-29T>A (n.4606-29T>A)
n.654-29T>A
c.4018-29T>A (n.4018-29T>A)
c.4150-29T>A (n.4150-29T>A)
c.3970-29T>A (n.3970-29T>A)
c.3907-29T>A (n.3907-29T>A)
c.3751-29T>A (n.3751-29T>A)
c.3682-29T>A (n.3682-29T>A)
 gnomAD v4
6g.33164503G>ACA3749973COL11A2n.670-30C>T
c.4864-30C>T (n.4864-30C>T)
c.4543-30C>T (n.4543-30C>T)
c.4606-30C>T (n.4606-30C>T)
n.654-30C>T
c.4018-30C>T (n.4018-30C>T)
c.4150-30C>T (n.4150-30C>T)
c.3970-30C>T (n.3970-30C>T)
c.3907-30C>T (n.3907-30C>T)
c.3751-30C>T (n.3751-30C>T)
c.3682-30C>T (n.3682-30C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.33164503G>CCA3749974COL11A2n.670-30C>G
c.4864-30C>G (n.4864-30C>G)
c.4543-30C>G (n.4543-30C>G)
c.4606-30C>G (n.4606-30C>G)
n.654-30C>G
c.4018-30C>G (n.4018-30C>G)
c.4150-30C>G (n.4150-30C>G)
c.3970-30C>G (n.3970-30C>G)
c.3907-30C>G (n.3907-30C>G)
c.3751-30C>G (n.3751-30C>G)
c.3682-30C>G (n.3682-30C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164503G=CA1619889969COL11A2n.670-30C=
c.4864-30C= (n.4864-30C=)
c.4543-30C= (n.4543-30C=)
c.4606-30C= (n.4606-30C=)
n.654-30C=
c.4018-30C= (n.4018-30C=)
c.4150-30C= (n.4150-30C=)
c.3970-30C= (n.3970-30C=)
c.3907-30C= (n.3907-30C=)
c.3751-30C= (n.3751-30C=)
c.3682-30C= (n.3682-30C=)
6g.33164503G>TCA566698839COL11A2n.670-30C>A
c.4864-30C>A (n.4864-30C>A)
c.4543-30C>A (n.4543-30C>A)
c.4606-30C>A (n.4606-30C>A)
n.654-30C>A
c.4018-30C>A (n.4018-30C>A)
c.4150-30C>A (n.4150-30C>A)
c.3970-30C>A (n.3970-30C>A)
c.3907-30C>A (n.3907-30C>A)
c.3751-30C>A (n.3751-30C>A)
c.3682-30C>A (n.3682-30C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164506_33164507dupCA2678226399COL11A2n.670-31_670-30dup
c.4864-31_4864-30dup (n.4864-31_4864-30dup)
c.4543-31_4543-30dup (n.4543-31_4543-30dup)
c.4606-31_4606-30dup (n.4606-31_4606-30dup)
n.654-31_654-30dup
c.4018-31_4018-30dup (n.4018-31_4018-30dup)
c.4150-31_4150-30dup (n.4150-31_4150-30dup)
c.3970-31_3970-30dup (n.3970-31_3970-30dup)
c.3907-31_3907-30dup (n.3907-31_3907-30dup)
c.3751-31_3751-30dup (n.3751-31_3751-30dup)
c.3682-31_3682-30dup (n.3682-31_3682-30dup)
 gnomAD v4
6g.33164504G>ACA3749976COL11A2n.670-31C>T
c.4864-31C>T (n.4864-31C>T)
c.4543-31C>T (n.4543-31C>T)
c.4606-31C>T (n.4606-31C>T)
n.654-31C>T
c.4018-31C>T (n.4018-31C>T)
c.4150-31C>T (n.4150-31C>T)
c.3970-31C>T (n.3970-31C>T)
c.3907-31C>T (n.3907-31C>T)
c.3751-31C>T (n.3751-31C>T)
c.3682-31C>T (n.3682-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164504G>CCA3749975COL11A2n.670-31C>G
c.4864-31C>G (n.4864-31C>G)
c.4543-31C>G (n.4543-31C>G)
c.4606-31C>G (n.4606-31C>G)
n.654-31C>G
c.4018-31C>G (n.4018-31C>G)
c.4150-31C>G (n.4150-31C>G)
c.3970-31C>G (n.3970-31C>G)
c.3907-31C>G (n.3907-31C>G)
c.3751-31C>G (n.3751-31C>G)
c.3682-31C>G (n.3682-31C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164504G=CA1619889977COL11A2n.670-31C=
c.4864-31C= (n.4864-31C=)
c.4543-31C= (n.4543-31C=)
c.4606-31C= (n.4606-31C=)
n.654-31C=
c.4018-31C= (n.4018-31C=)
c.4150-31C= (n.4150-31C=)
c.3970-31C= (n.3970-31C=)
c.3907-31C= (n.3907-31C=)
c.3751-31C= (n.3751-31C=)
c.3682-31C= (n.3682-31C=)
6g.33164504G>TCA137061518COL11A2n.670-31C>A
c.4864-31C>A (n.4864-31C>A)
c.4543-31C>A (n.4543-31C>A)
c.4606-31C>A (n.4606-31C>A)
n.654-31C>A
c.4018-31C>A (n.4018-31C>A)
c.4150-31C>A (n.4150-31C>A)
c.3970-31C>A (n.3970-31C>A)
c.3907-31C>A (n.3907-31C>A)
c.3751-31C>A (n.3751-31C>A)
c.3682-31C>A (n.3682-31C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164505G>ACA1619889982COL11A2n.670-32C>T
c.4864-32C>T (n.4864-32C>T)
c.4543-32C>T (n.4543-32C>T)
c.4606-32C>T (n.4606-32C>T)
n.654-32C>T
c.4018-32C>T (n.4018-32C>T)
c.4150-32C>T (n.4150-32C>T)
c.3970-32C>T (n.3970-32C>T)
c.3907-32C>T (n.3907-32C>T)
c.3751-32C>T (n.3751-32C>T)
c.3682-32C>T (n.3682-32C>T)
 dbSNP
6g.33164505G=CA1619889984COL11A2n.670-32C=
c.4864-32C= (n.4864-32C=)
c.4543-32C= (n.4543-32C=)
c.4606-32C= (n.4606-32C=)
n.654-32C=
c.4018-32C= (n.4018-32C=)
c.4150-32C= (n.4150-32C=)
c.3970-32C= (n.3970-32C=)
c.3907-32C= (n.3907-32C=)
c.3751-32C= (n.3751-32C=)
c.3682-32C= (n.3682-32C=)
6g.33164505G>TCA2678226401COL11A2n.670-32C>A
c.4864-32C>A (n.4864-32C>A)
c.4543-32C>A (n.4543-32C>A)
c.4606-32C>A (n.4606-32C>A)
n.654-32C>A
c.4018-32C>A (n.4018-32C>A)
c.4150-32C>A (n.4150-32C>A)
c.3970-32C>A (n.3970-32C>A)
c.3907-32C>A (n.3907-32C>A)
c.3751-32C>A (n.3751-32C>A)
c.3682-32C>A (n.3682-32C>A)
 gnomAD v4
6g.33164531_33164532insGGAGAGAGAGGGCTGGCCTCAGAGTGGGAGAGAGAGGGCTGGCCTCAGAGGGCA2678226402COL11A2n.670-32_670-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC
c.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
c.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
c.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
n.654-32_654-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC
c.4018-32_4018-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4018-32_4018-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
c.4150-32_4150-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4150-32_4150-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
c.3970-32_3970-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.3970-32_3970-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
c.3907-32_3907-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.3907-32_3907-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
c.3751-32_3751-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.3751-32_3751-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
c.3682-32_3682-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.3682-32_3682-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC)
 gnomAD v4
6g.33164511_33164534delCA2678226400COL11A2n.670-55_670-32del
c.4864-55_4864-32del (n.4864-55_4864-32del)
c.4543-55_4543-32del (n.4543-55_4543-32del)
c.4606-55_4606-32del (n.4606-55_4606-32del)
n.654-55_654-32del
c.4018-55_4018-32del (n.4018-55_4018-32del)
c.4150-55_4150-32del (n.4150-55_4150-32del)
c.3970-55_3970-32del (n.3970-55_3970-32del)
c.3907-55_3907-32del (n.3907-55_3907-32del)
c.3751-55_3751-32del (n.3751-55_3751-32del)
c.3682-55_3682-32del (n.3682-55_3682-32del)
 gnomAD v4
6g.33164506G>ACA2578581076COL11A2n.670-33C>T
c.4864-33C>T (n.4864-33C>T)
c.4543-33C>T (n.4543-33C>T)
c.4606-33C>T (n.4606-33C>T)
n.654-33C>T
c.4018-33C>T (n.4018-33C>T)
c.4150-33C>T (n.4150-33C>T)
c.3970-33C>T (n.3970-33C>T)
c.3907-33C>T (n.3907-33C>T)
c.3751-33C>T (n.3751-33C>T)
c.3682-33C>T (n.3682-33C>T)
 dbSNP gnomAD v4
6g.33164506G>TCA2678226403COL11A2n.670-33C>A
c.4864-33C>A (n.4864-33C>A)
c.4543-33C>A (n.4543-33C>A)
c.4606-33C>A (n.4606-33C>A)
n.654-33C>A
c.4018-33C>A (n.4018-33C>A)
c.4150-33C>A (n.4150-33C>A)
c.3970-33C>A (n.3970-33C>A)
c.3907-33C>A (n.3907-33C>A)
c.3751-33C>A (n.3751-33C>A)
c.3682-33C>A (n.3682-33C>A)
 gnomAD v4
6g.33164506_33164508delinsGGACA1619889985COL11A2n.670-35_670-33delinsTCC
c.4864-35_4864-33delinsTCC (n.4864-35_4864-33delinsTCC)
c.4543-35_4543-33delinsTCC (n.4543-35_4543-33delinsTCC)
c.4606-35_4606-33delinsTCC (n.4606-35_4606-33delinsTCC)
n.654-35_654-33delinsTCC
c.4018-35_4018-33delinsTCC (n.4018-35_4018-33delinsTCC)
c.4150-35_4150-33delinsTCC (n.4150-35_4150-33delinsTCC)
c.3970-35_3970-33delinsTCC (n.3970-35_3970-33delinsTCC)
c.3907-35_3907-33delinsTCC (n.3907-35_3907-33delinsTCC)
c.3751-35_3751-33delinsTCC (n.3751-35_3751-33delinsTCC)
c.3682-35_3682-33delinsTCC (n.3682-35_3682-33delinsTCC)
6g.33164507G>ACA566698840COL11A2n.670-34C>T
c.4864-34C>T (n.4864-34C>T)
c.4543-34C>T (n.4543-34C>T)
c.4606-34C>T (n.4606-34C>T)
n.654-34C>T
c.4018-34C>T (n.4018-34C>T)
c.4150-34C>T (n.4150-34C>T)
c.3970-34C>T (n.3970-34C>T)
c.3907-34C>T (n.3907-34C>T)
c.3751-34C>T (n.3751-34C>T)
c.3682-34C>T (n.3682-34C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.33164507G=CA1619889987COL11A2n.670-34C=
c.4864-34C= (n.4864-34C=)
c.4543-34C= (n.4543-34C=)
c.4606-34C= (n.4606-34C=)
n.654-34C=
c.4018-34C= (n.4018-34C=)
c.4150-34C= (n.4150-34C=)
c.3970-34C= (n.3970-34C=)
c.3907-34C= (n.3907-34C=)
c.3751-34C= (n.3751-34C=)
c.3682-34C= (n.3682-34C=)
6g.33164507G>TCA1619889989COL11A2n.670-34C>A
c.4864-34C>A (n.4864-34C>A)
c.4543-34C>A (n.4543-34C>A)
c.4606-34C>A (n.4606-34C>A)
n.654-34C>A
c.4018-34C>A (n.4018-34C>A)
c.4150-34C>A (n.4150-34C>A)
c.3970-34C>A (n.3970-34C>A)
c.3907-34C>A (n.3907-34C>A)
c.3751-34C>A (n.3751-34C>A)
c.3682-34C>A (n.3682-34C>A)
 dbSNP gnomAD v4
6g.33164514_33164515delCA566698841COL11A2n.670-35_670-34del
c.4864-35_4864-34del (n.4864-35_4864-34del)
c.4543-35_4543-34del (n.4543-35_4543-34del)
c.4606-35_4606-34del (n.4606-35_4606-34del)
n.654-35_654-34del
c.4018-35_4018-34del (n.4018-35_4018-34del)
c.4150-35_4150-34del (n.4150-35_4150-34del)
c.3970-35_3970-34del (n.3970-35_3970-34del)
c.3907-35_3907-34del (n.3907-35_3907-34del)
c.3751-35_3751-34del (n.3751-35_3751-34del)
c.3682-35_3682-34del (n.3682-35_3682-34del)
 dbSNP gnomAD v2 gnomAD v4
6g.33164508A>GCA2578581077COL11A2n.670-35T>C
c.4864-35T>C (n.4864-35T>C)
c.4543-35T>C (n.4543-35T>C)
c.4606-35T>C (n.4606-35T>C)
n.654-35T>C
c.4018-35T>C (n.4018-35T>C)
c.4150-35T>C (n.4150-35T>C)
c.3970-35T>C (n.3970-35T>C)
c.3907-35T>C (n.3907-35T>C)
c.3751-35T>C (n.3751-35T>C)
c.3682-35T>C (n.3682-35T>C)
 gnomAD v4
6g.33164509G>ACA2678226404COL11A2n.670-36C>T
c.4864-36C>T (n.4864-36C>T)
c.4543-36C>T (n.4543-36C>T)
c.4606-36C>T (n.4606-36C>T)
n.654-36C>T
c.4018-36C>T (n.4018-36C>T)
c.4150-36C>T (n.4150-36C>T)
c.3970-36C>T (n.3970-36C>T)
c.3907-36C>T (n.3907-36C>T)
c.3751-36C>T (n.3751-36C>T)
c.3682-36C>T (n.3682-36C>T)
 gnomAD v4
6g.33164509G>CCA2578581078COL11A2n.670-36C>G
c.4864-36C>G (n.4864-36C>G)
c.4543-36C>G (n.4543-36C>G)
c.4606-36C>G (n.4606-36C>G)
n.654-36C>G
c.4018-36C>G (n.4018-36C>G)
c.4150-36C>G (n.4150-36C>G)
c.3970-36C>G (n.3970-36C>G)
c.3907-36C>G (n.3907-36C>G)
c.3751-36C>G (n.3751-36C>G)
c.3682-36C>G (n.3682-36C>G)
 dbSNP
6g.33164511G>CCA2678226405COL11A2n.670-38C>G
c.4864-38C>G (n.4864-38C>G)
c.4543-38C>G (n.4543-38C>G)
c.4606-38C>G (n.4606-38C>G)
n.654-38C>G
c.4018-38C>G (n.4018-38C>G)
c.4150-38C>G (n.4150-38C>G)
c.3970-38C>G (n.3970-38C>G)
c.3907-38C>G (n.3907-38C>G)
c.3751-38C>G (n.3751-38C>G)
c.3682-38C>G (n.3682-38C>G)
 gnomAD v4
6g.33164511G>TCA2678226406COL11A2n.670-38C>A
c.4864-38C>A (n.4864-38C>A)
c.4543-38C>A (n.4543-38C>A)
c.4606-38C>A (n.4606-38C>A)
n.654-38C>A
c.4018-38C>A (n.4018-38C>A)
c.4150-38C>A (n.4150-38C>A)
c.3970-38C>A (n.3970-38C>A)
c.3907-38C>A (n.3907-38C>A)
c.3751-38C>A (n.3751-38C>A)
c.3682-38C>A (n.3682-38C>A)
 gnomAD v4
6g.33164514A>GCA2678226408COL11A2n.670-41T>C
c.4864-41T>C (n.4864-41T>C)
c.4543-41T>C (n.4543-41T>C)
c.4606-41T>C (n.4606-41T>C)
n.654-41T>C
c.4018-41T>C (n.4018-41T>C)
c.4150-41T>C (n.4150-41T>C)
c.3970-41T>C (n.3970-41T>C)
c.3907-41T>C (n.3907-41T>C)
c.3751-41T>C (n.3751-41T>C)
c.3682-41T>C (n.3682-41T>C)
 gnomAD v4
6g.33164515G>CCA2578581079COL11A2n.670-42C>G
c.4864-42C>G (n.4864-42C>G)
c.4543-42C>G (n.4543-42C>G)
c.4606-42C>G (n.4606-42C>G)
n.654-42C>G
c.4018-42C>G (n.4018-42C>G)
c.4150-42C>G (n.4150-42C>G)
c.3970-42C>G (n.3970-42C>G)
c.3907-42C>G (n.3907-42C>G)
c.3751-42C>G (n.3751-42C>G)
c.3682-42C>G (n.3682-42C>G)
6g.33164516G>ACA137061523COL11A2n.670-43C>T
c.4864-43C>T (n.4864-43C>T)
c.4543-43C>T (n.4543-43C>T)
c.4606-43C>T (n.4606-43C>T)
n.654-43C>T
c.4018-43C>T (n.4018-43C>T)
c.4150-43C>T (n.4150-43C>T)
c.3970-43C>T (n.3970-43C>T)
c.3907-43C>T (n.3907-43C>T)
c.3751-43C>T (n.3751-43C>T)
c.3682-43C>T (n.3682-43C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164516G=CA1619889992COL11A2n.670-43C=
c.4864-43C= (n.4864-43C=)
c.4543-43C= (n.4543-43C=)
c.4606-43C= (n.4606-43C=)
n.654-43C=
c.4018-43C= (n.4018-43C=)
c.4150-43C= (n.4150-43C=)
c.3970-43C= (n.3970-43C=)
c.3907-43C= (n.3907-43C=)
c.3751-43C= (n.3751-43C=)
c.3682-43C= (n.3682-43C=)
6g.33164516G>TCA566698842COL11A2n.670-43C>A
c.4864-43C>A (n.4864-43C>A)
c.4543-43C>A (n.4543-43C>A)
c.4606-43C>A (n.4606-43C>A)
n.654-43C>A
c.4018-43C>A (n.4018-43C>A)
c.4150-43C>A (n.4150-43C>A)
c.3970-43C>A (n.3970-43C>A)
c.3907-43C>A (n.3907-43C>A)
c.3751-43C>A (n.3751-43C>A)
c.3682-43C>A (n.3682-43C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.33164517G>ACA2678226409COL11A2n.670-44C>T
c.4864-44C>T (n.4864-44C>T)
c.4543-44C>T (n.4543-44C>T)
c.4606-44C>T (n.4606-44C>T)
n.654-44C>T
c.4018-44C>T (n.4018-44C>T)
c.4150-44C>T (n.4150-44C>T)
c.3970-44C>T (n.3970-44C>T)
c.3907-44C>T (n.3907-44C>T)
c.3751-44C>T (n.3751-44C>T)
c.3682-44C>T (n.3682-44C>T)
 gnomAD v4
6g.33164517G>CCA2578581080COL11A2n.670-44C>G
c.4864-44C>G (n.4864-44C>G)
c.4543-44C>G (n.4543-44C>G)
c.4606-44C>G (n.4606-44C>G)
n.654-44C>G
c.4018-44C>G (n.4018-44C>G)
c.4150-44C>G (n.4150-44C>G)
c.3970-44C>G (n.3970-44C>G)
c.3907-44C>G (n.3907-44C>G)
c.3751-44C>G (n.3751-44C>G)
c.3682-44C>G (n.3682-44C>G)
 gnomAD v4
6g.33164518C>ACA2678226410COL11A2n.670-45G>T
c.4864-45G>T (n.4864-45G>T)
c.4543-45G>T (n.4543-45G>T)
c.4606-45G>T (n.4606-45G>T)
n.654-45G>T
c.4018-45G>T (n.4018-45G>T)
c.4150-45G>T (n.4150-45G>T)
c.3970-45G>T (n.3970-45G>T)
c.3907-45G>T (n.3907-45G>T)
c.3751-45G>T (n.3751-45G>T)
c.3682-45G>T (n.3682-45G>T)
 gnomAD v4
6g.33164518C>TCA2678226411COL11A2n.670-45G>A
c.4864-45G>A (n.4864-45G>A)
c.4543-45G>A (n.4543-45G>A)
c.4606-45G>A (n.4606-45G>A)
n.654-45G>A
c.4018-45G>A (n.4018-45G>A)
c.4150-45G>A (n.4150-45G>A)
c.3970-45G>A (n.3970-45G>A)
c.3907-45G>A (n.3907-45G>A)
c.3751-45G>A (n.3751-45G>A)
c.3682-45G>A (n.3682-45G>A)
 gnomAD v4
6g.33164520G>ACA2678226413COL11A2n.670-47C>T
c.4864-47C>T (n.4864-47C>T)
c.4543-47C>T (n.4543-47C>T)
c.4606-47C>T (n.4606-47C>T)
n.654-47C>T
c.4018-47C>T (n.4018-47C>T)
c.4150-47C>T (n.4150-47C>T)
c.3970-47C>T (n.3970-47C>T)
c.3907-47C>T (n.3907-47C>T)
c.3751-47C>T (n.3751-47C>T)
c.3682-47C>T (n.3682-47C>T)
 gnomAD v4
6g.33164520G>TCA2678226414COL11A2n.670-47C>A
c.4864-47C>A (n.4864-47C>A)
c.4543-47C>A (n.4543-47C>A)
c.4606-47C>A (n.4606-47C>A)
n.654-47C>A
c.4018-47C>A (n.4018-47C>A)
c.4150-47C>A (n.4150-47C>A)
c.3970-47C>A (n.3970-47C>A)
c.3907-47C>A (n.3907-47C>A)
c.3751-47C>A (n.3751-47C>A)
c.3682-47C>A (n.3682-47C>A)
 gnomAD v4
6g.33164531_33164532insGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCCGGCCTCAGAGGGCA2678226412COL11A2n.670-47_670-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC
c.4864-47_4864-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4864-47_4864-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
c.4543-47_4543-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4543-47_4543-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
c.4606-47_4606-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4606-47_4606-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
n.654-47_654-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC
c.4018-47_4018-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4018-47_4018-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
c.4150-47_4150-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4150-47_4150-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
c.3970-47_3970-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.3970-47_3970-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
c.3907-47_3907-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.3907-47_3907-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
c.3751-47_3751-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.3751-47_3751-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
c.3682-47_3682-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.3682-47_3682-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC)
 gnomAD v4
6g.33164521G>ACA2678226415COL11A2n.670-48C>T
c.4864-48C>T (n.4864-48C>T)
c.4543-48C>T (n.4543-48C>T)
c.4606-48C>T (n.4606-48C>T)
n.654-48C>T
c.4018-48C>T (n.4018-48C>T)
c.4150-48C>T (n.4150-48C>T)
c.3970-48C>T (n.3970-48C>T)
c.3907-48C>T (n.3907-48C>T)
c.3751-48C>T (n.3751-48C>T)
c.3682-48C>T (n.3682-48C>T)
 dbSNP gnomAD v4
6g.33164521G>TCA2678226416COL11A2n.670-48C>A
c.4864-48C>A (n.4864-48C>A)
c.4543-48C>A (n.4543-48C>A)
c.4606-48C>A (n.4606-48C>A)
n.654-48C>A
c.4018-48C>A (n.4018-48C>A)
c.4150-48C>A (n.4150-48C>A)
c.3970-48C>A (n.3970-48C>A)
c.3907-48C>A (n.3907-48C>A)
c.3751-48C>A (n.3751-48C>A)
c.3682-48C>A (n.3682-48C>A)
 gnomAD v4
6g.33164522C>ACA2678226417COL11A2n.670-49G>T
c.4864-49G>T (n.4864-49G>T)
c.4543-49G>T (n.4543-49G>T)
c.4606-49G>T (n.4606-49G>T)
n.654-49G>T
c.4018-49G>T (n.4018-49G>T)
c.4150-49G>T (n.4150-49G>T)
c.3970-49G>T (n.3970-49G>T)
c.3907-49G>T (n.3907-49G>T)
c.3751-49G>T (n.3751-49G>T)
c.3682-49G>T (n.3682-49G>T)
 gnomAD v4
6g.33164522C=CA1619889994COL11A2n.670-49G=
c.4864-49G= (n.4864-49G=)
c.4543-49G= (n.4543-49G=)
c.4606-49G= (n.4606-49G=)
n.654-49G=
c.4018-49G= (n.4018-49G=)
c.4150-49G= (n.4150-49G=)
c.3970-49G= (n.3970-49G=)
c.3907-49G= (n.3907-49G=)
c.3751-49G= (n.3751-49G=)
c.3682-49G= (n.3682-49G=)
6g.33164522C>GCA2678226418COL11A2n.670-49G>C
c.4864-49G>C (n.4864-49G>C)
c.4543-49G>C (n.4543-49G>C)
c.4606-49G>C (n.4606-49G>C)
n.654-49G>C
c.4018-49G>C (n.4018-49G>C)
c.4150-49G>C (n.4150-49G>C)
c.3970-49G>C (n.3970-49G>C)
c.3907-49G>C (n.3907-49G>C)
c.3751-49G>C (n.3751-49G>C)
c.3682-49G>C (n.3682-49G>C)
 gnomAD v4
6g.33164522C>TCA824029609COL11A2n.670-49G>A
c.4864-49G>A (n.4864-49G>A)
c.4543-49G>A (n.4543-49G>A)
c.4606-49G>A (n.4606-49G>A)
n.654-49G>A
c.4018-49G>A (n.4018-49G>A)
c.4150-49G>A (n.4150-49G>A)
c.3970-49G>A (n.3970-49G>A)
c.3907-49G>A (n.3907-49G>A)
c.3751-49G>A (n.3751-49G>A)
c.3682-49G>A (n.3682-49G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.33164523C>ACA2578581081COL11A2n.670-50G>T
c.4864-50G>T (n.4864-50G>T)
c.4543-50G>T (n.4543-50G>T)
c.4606-50G>T (n.4606-50G>T)
n.654-50G>T
c.4018-50G>T (n.4018-50G>T)
c.4150-50G>T (n.4150-50G>T)
c.3970-50G>T (n.3970-50G>T)
c.3907-50G>T (n.3907-50G>T)
c.3751-50G>T (n.3751-50G>T)
c.3682-50G>T (n.3682-50G>T)
 gnomAD v4
6g.33164524T>CCA3749977COL11A2n.670-51A>G
c.4864-51A>G (n.4864-51A>G)
c.4543-51A>G (n.4543-51A>G)
c.4606-51A>G (n.4606-51A>G)
n.654-51A>G
c.4018-51A>G (n.4018-51A>G)
c.4150-51A>G (n.4150-51A>G)
c.3970-51A>G (n.3970-51A>G)
c.3907-51A>G (n.3907-51A>G)
c.3751-51A>G (n.3751-51A>G)
c.3682-51A>G (n.3682-51A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164524T=CA1619889997COL11A2n.670-51A=
c.4864-51A= (n.4864-51A=)
c.4543-51A= (n.4543-51A=)
c.4606-51A= (n.4606-51A=)
n.654-51A=
c.4018-51A= (n.4018-51A=)
c.4150-51A= (n.4150-51A=)
c.3970-51A= (n.3970-51A=)
c.3907-51A= (n.3907-51A=)
c.3751-51A= (n.3751-51A=)
c.3682-51A= (n.3682-51A=)
6g.33164526A>GCA2678226421COL11A2n.670-53T>C
c.4864-53T>C (n.4864-53T>C)
c.4543-53T>C (n.4543-53T>C)
c.4606-53T>C (n.4606-53T>C)
n.654-53T>C
c.4018-53T>C (n.4018-53T>C)
c.4150-53T>C (n.4150-53T>C)
c.3970-53T>C (n.3970-53T>C)
c.3907-53T>C (n.3907-53T>C)
c.3751-53T>C (n.3751-53T>C)
c.3682-53T>C (n.3682-53T>C)
 gnomAD v4
6g.33164526A>TCA2678226420COL11A2n.670-53T>A
c.4864-53T>A (n.4864-53T>A)
c.4543-53T>A (n.4543-53T>A)
c.4606-53T>A (n.4606-53T>A)
n.654-53T>A
c.4018-53T>A (n.4018-53T>A)
c.4150-53T>A (n.4150-53T>A)
c.3970-53T>A (n.3970-53T>A)
c.3907-53T>A (n.3907-53T>A)
c.3751-53T>A (n.3751-53T>A)
c.3682-53T>A (n.3682-53T>A)
 gnomAD v4
6g.33164527G>ACA2678226422COL11A2n.670-54C>T
c.4864-54C>T (n.4864-54C>T)
c.4543-54C>T (n.4543-54C>T)
c.4606-54C>T (n.4606-54C>T)
n.654-54C>T
c.4018-54C>T (n.4018-54C>T)
c.4150-54C>T (n.4150-54C>T)
c.3970-54C>T (n.3970-54C>T)
c.3907-54C>T (n.3907-54C>T)
c.3751-54C>T (n.3751-54C>T)
c.3682-54C>T (n.3682-54C>T)
 gnomAD v4
6g.33164527G>TCA2678226423COL11A2n.670-54C>A
c.4864-54C>A (n.4864-54C>A)
c.4543-54C>A (n.4543-54C>A)
c.4606-54C>A (n.4606-54C>A)
n.654-54C>A
c.4018-54C>A (n.4018-54C>A)
c.4150-54C>A (n.4150-54C>A)
c.3970-54C>A (n.3970-54C>A)
c.3907-54C>A (n.3907-54C>A)
c.3751-54C>A (n.3751-54C>A)
c.3682-54C>A (n.3682-54C>A)
 gnomAD v4
6g.33164528A>CCA2578581082COL11A2n.670-55T>G
c.4864-55T>G (n.4864-55T>G)
c.4543-55T>G (n.4543-55T>G)
c.4606-55T>G (n.4606-55T>G)
n.654-55T>G
c.4018-55T>G (n.4018-55T>G)
c.4150-55T>G (n.4150-55T>G)
c.3970-55T>G (n.3970-55T>G)
c.3907-55T>G (n.3907-55T>G)
c.3751-55T>G (n.3751-55T>G)
c.3682-55T>G (n.3682-55T>G)
 gnomAD v4
6g.33164528A>GCA2678226424COL11A2n.670-55T>C
c.4864-55T>C (n.4864-55T>C)
c.4543-55T>C (n.4543-55T>C)
c.4606-55T>C (n.4606-55T>C)
n.654-55T>C
c.4018-55T>C (n.4018-55T>C)
c.4150-55T>C (n.4150-55T>C)
c.3970-55T>C (n.3970-55T>C)
c.3907-55T>C (n.3907-55T>C)
c.3751-55T>C (n.3751-55T>C)
c.3682-55T>C (n.3682-55T>C)
 gnomAD v4
6g.33164528A>TCA2678226425COL11A2n.670-55T>A
c.4864-55T>A (n.4864-55T>A)
c.4543-55T>A (n.4543-55T>A)
c.4606-55T>A (n.4606-55T>A)
n.654-55T>A
c.4018-55T>A (n.4018-55T>A)
c.4150-55T>A (n.4150-55T>A)
c.3970-55T>A (n.3970-55T>A)
c.3907-55T>A (n.3907-55T>A)
c.3751-55T>A (n.3751-55T>A)
c.3682-55T>A (n.3682-55T>A)
 gnomAD v4

Number of alleles fetched