Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33164845C=CA1619890385COL11A2c.4863+7G= (p.=)
c.4542+7G= (p.=)
c.4605+7G= (p.=)
n.653+7G=
c.4017+7G= (p.=)
c.4149+7G= (p.=)
c.3969+7G= (p.=)
c.3906+7G= (p.=)
c.3750+7G= (p.=)
c.3681+7G= (p.=)
6g.33164845C>TCA183322COL11A2c.4863+7G>A (p.=)
c.4542+7G>A (p.=)
c.4605+7G>A (p.=)
n.653+7G>A
c.4017+7G>A (p.=)
c.4149+7G>A (p.=)
c.3969+7G>A (p.=)
c.3906+7G>A (p.=)
c.3750+7G>A (p.=)
c.3681+7G>A (p.=)
ClinVar dbSNP ExAC gnomAD
6g.33164847C=CA1619890393COL11A2c.4863+5G= (p.=)
c.4542+5G= (p.=)
c.4605+5G= (p.=)
n.653+5G=
c.4017+5G= (p.=)
c.4149+5G= (p.=)
c.3969+5G= (p.=)
c.3906+5G= (p.=)
c.3750+5G= (p.=)
c.3681+5G= (p.=)
6g.33164847C>GCA566424987COL11A2c.4863+5G>C (p.=)
c.4542+5G>C (p.=)
c.4605+5G>C (p.=)
n.653+5G>C
c.4017+5G>C (p.=)
c.4149+5G>C (p.=)
c.3969+5G>C (p.=)
c.3906+5G>C (p.=)
c.3750+5G>C (p.=)
c.3681+5G>C (p.=)
gnomAD
6g.33164849C=CA1619890395COL11A2c.4863+3G= (p.=)
c.4542+3G= (p.=)
c.4605+3G= (p.=)
n.653+3G=
c.4017+3G= (p.=)
c.4149+3G= (p.=)
c.3969+3G= (p.=)
c.3906+3G= (p.=)
c.3750+3G= (p.=)
c.3681+3G= (p.=)
6g.33164849C>TCA3749984COL11A2c.4863+3G>A (p.=)
c.4542+3G>A (p.=)
c.4605+3G>A (p.=)
n.653+3G>A
c.4017+3G>A (p.=)
c.4149+3G>A (p.=)
c.3969+3G>A (p.=)
c.3906+3G>A (p.=)
c.3750+3G>A (p.=)
c.3681+3G>A (p.=)
dbSNP ExAC gnomAD
6g.33164850A>CCA363617349COL11A2c.4863+2T>G (p.=)
c.4542+2T>G (p.=)
c.4605+2T>G (p.=)
n.653+2T>G
c.4017+2T>G (p.=)
c.4149+2T>G (p.=)
c.3969+2T>G (p.=)
c.3906+2T>G (p.=)
c.3750+2T>G (p.=)
c.3681+2T>G (p.=)
6g.33164850A>GCA363617352COL11A2c.4863+2T>C (p.=)
c.4542+2T>C (p.=)
c.4605+2T>C (p.=)
n.653+2T>C
c.4017+2T>C (p.=)
c.4149+2T>C (p.=)
c.3969+2T>C (p.=)
c.3906+2T>C (p.=)
c.3750+2T>C (p.=)
c.3681+2T>C (p.=)
6g.33164850A>TCA363617350COL11A2c.4863+2T>A (p.=)
c.4542+2T>A (p.=)
c.4605+2T>A (p.=)
n.653+2T>A
c.4017+2T>A (p.=)
c.4149+2T>A (p.=)
c.3969+2T>A (p.=)
c.3906+2T>A (p.=)
c.3750+2T>A (p.=)
c.3681+2T>A (p.=)
6g.33164851C>ACA363617355COL11A2c.4863+1G>T (p.=)
c.4542+1G>T (p.=)
c.4605+1G>T (p.=)
n.653+1G>T
c.4017+1G>T (p.=)
c.4149+1G>T (p.=)
c.3969+1G>T (p.=)
c.3906+1G>T (p.=)
c.3750+1G>T (p.=)
c.3681+1G>T (p.=)
6g.33164851C=CA1619890400COL11A2c.4863+1G= (p.=)
c.4542+1G= (p.=)
c.4605+1G= (p.=)
n.653+1G=
c.4017+1G= (p.=)
c.4149+1G= (p.=)
c.3969+1G= (p.=)
c.3906+1G= (p.=)
c.3750+1G= (p.=)
c.3681+1G= (p.=)
6g.33164851C>GCA363617356COL11A2c.4863+1G>C (p.=)
c.4542+1G>C (p.=)
c.4605+1G>C (p.=)
n.653+1G>C
c.4017+1G>C (p.=)
c.4149+1G>C (p.=)
c.3969+1G>C (p.=)
c.3906+1G>C (p.=)
c.3750+1G>C (p.=)
c.3681+1G>C (p.=)
6g.33164851C>TCA363617359COL11A2c.4863+1G>A (p.=)
c.4542+1G>A (p.=)
c.4605+1G>A (p.=)
n.653+1G>A
c.4017+1G>A (p.=)
c.4149+1G>A (p.=)
c.3969+1G>A (p.=)
c.3906+1G>A (p.=)
c.3750+1G>A (p.=)
c.3681+1G>A (p.=)
gnomAD
6g.33164852C>ACA363617361COL11A2c.4863G>T (p.Gln1621His)
c.4542G>T (p.Gln1514His)
c.4605G>T (p.Gln1535His)
n.653G>T
c.4017G>T (p.Gln1339His)
c.4149G>T (p.Gln1383His)
c.3969G>T (p.Gln1323His)
c.3906G>T (p.Gln1302His)
c.3750G>T (p.Gln1250His)
c.3681G>T (p.Gln1227His)
6g.33164852C>GCA363617363COL11A2c.4863G>C (p.Gln1621His)
c.4542G>C (p.Gln1514His)
c.4605G>C (p.Gln1535His)
n.653G>C
c.4017G>C (p.Gln1339His)
c.4149G>C (p.Gln1383His)
c.3969G>C (p.Gln1323His)
c.3906G>C (p.Gln1302His)
c.3750G>C (p.Gln1250His)
c.3681G>C (p.Gln1227His)
6g.33164852C>TCA449867219COL11A2c.4863G>A (p.Gln1621=)
c.4542G>A (p.Gln1514=)
c.4605G>A (p.Gln1535=)
n.653G>A
c.4017G>A (p.Gln1339=)
c.4149G>A (p.Gln1383=)
c.3969G>A (p.Gln1323=)
c.3906G>A (p.Gln1302=)
c.3750G>A (p.Gln1250=)
c.3681G>A (p.Gln1227=)
6g.33164853T>ACA363617365COL11A2c.4862A>T (p.Gln1621Leu)
c.4541A>T (p.Gln1514Leu)
c.4604A>T (p.Gln1535Leu)
n.652A>T
c.4016A>T (p.Gln1339Leu)
c.4148A>T (p.Gln1383Leu)
c.3968A>T (p.Gln1323Leu)
c.3905A>T (p.Gln1302Leu)
c.3749A>T (p.Gln1250Leu)
c.3680A>T (p.Gln1227Leu)
6g.33164853T>CCA363617367COL11A2c.4862A>G (p.Gln1621Arg)
c.4541A>G (p.Gln1514Arg)
c.4604A>G (p.Gln1535Arg)
n.652A>G
c.4016A>G (p.Gln1339Arg)
c.4148A>G (p.Gln1383Arg)
c.3968A>G (p.Gln1323Arg)
c.3905A>G (p.Gln1302Arg)
c.3749A>G (p.Gln1250Arg)
c.3680A>G (p.Gln1227Arg)
6g.33164853T>GCA363617369COL11A2c.4862A>C (p.Gln1621Pro)
c.4541A>C (p.Gln1514Pro)
c.4604A>C (p.Gln1535Pro)
n.652A>C
c.4016A>C (p.Gln1339Pro)
c.4148A>C (p.Gln1383Pro)
c.3968A>C (p.Gln1323Pro)
c.3905A>C (p.Gln1302Pro)
c.3749A>C (p.Gln1250Pro)
c.3680A>C (p.Gln1227Pro)
6g.33164854G>ACA363617370COL11A2c.4861C>T (p.Gln1621Ter)
c.4540C>T (p.Gln1514Ter)
c.4603C>T (p.Gln1535Ter)
n.651C>T
c.4015C>T (p.Gln1339Ter)
c.4147C>T (p.Gln1383Ter)
c.3967C>T (p.Gln1323Ter)
c.3904C>T (p.Gln1302Ter)
c.3748C>T (p.Gln1250Ter)
c.3679C>T (p.Gln1227Ter)
6g.33164854G>CCA363617372COL11A2c.4861C>G (p.Gln1621Glu)
c.4540C>G (p.Gln1514Glu)
c.4603C>G (p.Gln1535Glu)
n.651C>G
c.4015C>G (p.Gln1339Glu)
c.4147C>G (p.Gln1383Glu)
c.3967C>G (p.Gln1323Glu)
c.3904C>G (p.Gln1302Glu)
c.3748C>G (p.Gln1250Glu)
c.3679C>G (p.Gln1227Glu)
6g.33164854G>TCA363617374COL11A2c.4861C>A (p.Gln1621Lys)
c.4540C>A (p.Gln1514Lys)
c.4603C>A (p.Gln1535Lys)
n.651C>A
c.4015C>A (p.Gln1339Lys)
c.4147C>A (p.Gln1383Lys)
c.3967C>A (p.Gln1323Lys)
c.3904C>A (p.Gln1302Lys)
c.3748C>A (p.Gln1250Lys)
c.3679C>A (p.Gln1227Lys)
6g.33164855C>ACA449867223COL11A2c.4860G>T (p.Thr1620=)
c.4539G>T (p.Thr1513=)
c.4602G>T (p.Thr1534=)
n.650G>T
c.4014G>T (p.Thr1338=)
c.4146G>T (p.Thr1382=)
c.3966G>T (p.Thr1322=)
c.3903G>T (p.Thr1301=)
c.3747G>T (p.Thr1249=)
c.3678G>T (p.Thr1226=)
6g.33164855C=CA1619890404COL11A2c.4860G= (p.Thr1620=)
c.4539G= (p.Thr1513=)
c.4602G= (p.Thr1534=)
n.650G=
c.4014G= (p.Thr1338=)
c.4146G= (p.Thr1382=)
c.3966G= (p.Thr1322=)
c.3903G= (p.Thr1301=)
c.3747G= (p.Thr1249=)
c.3678G= (p.Thr1226=)
6g.33164855C>GCA449867224COL11A2c.4860G>C (p.Thr1620=)
c.4539G>C (p.Thr1513=)
c.4602G>C (p.Thr1534=)
n.650G>C
c.4014G>C (p.Thr1338=)
c.4146G>C (p.Thr1382=)
c.3966G>C (p.Thr1322=)
c.3903G>C (p.Thr1301=)
c.3747G>C (p.Thr1249=)
c.3678G>C (p.Thr1226=)
6g.33164855C>TCA3749985COL11A2c.4860G>A (p.Thr1620=)
c.4539G>A (p.Thr1513=)
c.4602G>A (p.Thr1534=)
n.650G>A
c.4014G>A (p.Thr1338=)
c.4146G>A (p.Thr1382=)
c.3966G>A (p.Thr1322=)
c.3903G>A (p.Thr1301=)
c.3747G>A (p.Thr1249=)
c.3678G>A (p.Thr1226=)
ClinVar dbSNP ExAC gnomAD
6g.33164856G>ACA3749986COL11A2c.4859C>T (p.Thr1620Met)
c.4538C>T (p.Thr1513Met)
c.4601C>T (p.Thr1534Met)
n.649C>T
c.4013C>T (p.Thr1338Met)
c.4145C>T (p.Thr1382Met)
c.3965C>T (p.Thr1322Met)
c.3902C>T (p.Thr1301Met)
c.3746C>T (p.Thr1249Met)
c.3677C>T (p.Thr1226Met)
dbSNP ExAC gnomAD
6g.33164856G>CCA363617377COL11A2c.4859C>G (p.Thr1620Arg)
c.4538C>G (p.Thr1513Arg)
c.4601C>G (p.Thr1534Arg)
n.649C>G
c.4013C>G (p.Thr1338Arg)
c.4145C>G (p.Thr1382Arg)
c.3965C>G (p.Thr1322Arg)
c.3902C>G (p.Thr1301Arg)
c.3746C>G (p.Thr1249Arg)
c.3677C>G (p.Thr1226Arg)
6g.33164856G=CA1619890409COL11A2c.4859C= (p.Thr1620=)
c.4538C= (p.Thr1513=)
c.4601C= (p.Thr1534=)
n.649C=
c.4013C= (p.Thr1338=)
c.4145C= (p.Thr1382=)
c.3965C= (p.Thr1322=)
c.3902C= (p.Thr1301=)
c.3746C= (p.Thr1249=)
c.3677C= (p.Thr1226=)
6g.33164856G>TCA363617380COL11A2c.4859C>A (p.Thr1620Lys)
c.4538C>A (p.Thr1513Lys)
c.4601C>A (p.Thr1534Lys)
n.649C>A
c.4013C>A (p.Thr1338Lys)
c.4145C>A (p.Thr1382Lys)
c.3965C>A (p.Thr1322Lys)
c.3902C>A (p.Thr1301Lys)
c.3746C>A (p.Thr1249Lys)
c.3677C>A (p.Thr1226Lys)
6g.33164857T>ACA363617382COL11A2c.4858A>T (p.Thr1620Ser)
c.4537A>T (p.Thr1513Ser)
c.4600A>T (p.Thr1534Ser)
n.648A>T
c.4012A>T (p.Thr1338Ser)
c.4144A>T (p.Thr1382Ser)
c.3964A>T (p.Thr1322Ser)
c.3901A>T (p.Thr1301Ser)
c.3745A>T (p.Thr1249Ser)
c.3676A>T (p.Thr1226Ser)
6g.33164857T>CCA363617383COL11A2c.4858A>G (p.Thr1620Ala)
c.4537A>G (p.Thr1513Ala)
c.4600A>G (p.Thr1534Ala)
n.648A>G
c.4012A>G (p.Thr1338Ala)
c.4144A>G (p.Thr1382Ala)
c.3964A>G (p.Thr1322Ala)
c.3901A>G (p.Thr1301Ala)
c.3745A>G (p.Thr1249Ala)
c.3676A>G (p.Thr1226Ala)
6g.33164857T>GCA363617385COL11A2c.4858A>C (p.Thr1620Pro)
c.4537A>C (p.Thr1513Pro)
c.4600A>C (p.Thr1534Pro)
n.648A>C
c.4012A>C (p.Thr1338Pro)
c.4144A>C (p.Thr1382Pro)
c.3964A>C (p.Thr1322Pro)
c.3901A>C (p.Thr1301Pro)
c.3745A>C (p.Thr1249Pro)
c.3676A>C (p.Thr1226Pro)
6g.33164858G>ACA449867229COL11A2c.4857C>T (p.Val1619=)
c.4536C>T (p.Val1512=)
c.4599C>T (p.Val1533=)
n.647C>T
c.4011C>T (p.Val1337=)
c.4143C>T (p.Val1381=)
c.3963C>T (p.Val1321=)
c.3900C>T (p.Val1300=)
c.3744C>T (p.Val1248=)
c.3675C>T (p.Val1225=)
6g.33164858G>CCA449867231COL11A2c.4857C>G (p.Val1619=)
c.4536C>G (p.Val1512=)
c.4599C>G (p.Val1533=)
n.647C>G
c.4011C>G (p.Val1337=)
c.4143C>G (p.Val1381=)
c.3963C>G (p.Val1321=)
c.3900C>G (p.Val1300=)
c.3744C>G (p.Val1248=)
c.3675C>G (p.Val1225=)
6g.33164858G>TCA449867230COL11A2c.4857C>A (p.Val1619=)
c.4536C>A (p.Val1512=)
c.4599C>A (p.Val1533=)
n.647C>A
c.4011C>A (p.Val1337=)
c.4143C>A (p.Val1381=)
c.3963C>A (p.Val1321=)
c.3900C>A (p.Val1300=)
c.3744C>A (p.Val1248=)
c.3675C>A (p.Val1225=)
6g.33164859A=CA1619890415COL11A2c.4856T= (p.Val1619=)
c.4535T= (p.Val1512=)
c.4598T= (p.Val1533=)
n.646T=
c.4010T= (p.Val1337=)
c.4142T= (p.Val1381=)
c.3962T= (p.Val1321=)
c.3899T= (p.Val1300=)
c.3743T= (p.Val1248=)
c.3674T= (p.Val1225=)
6g.33164859A>CCA363617391COL11A2c.4856T>G (p.Val1619Gly)
c.4535T>G (p.Val1512Gly)
c.4598T>G (p.Val1533Gly)
n.646T>G
c.4010T>G (p.Val1337Gly)
c.4142T>G (p.Val1381Gly)
c.3962T>G (p.Val1321Gly)
c.3899T>G (p.Val1300Gly)
c.3743T>G (p.Val1248Gly)
c.3674T>G (p.Val1225Gly)
6g.33164859A>GCA3749987COL11A2c.4856T>C (p.Val1619Ala)
c.4535T>C (p.Val1512Ala)
c.4598T>C (p.Val1533Ala)
n.646T>C
c.4010T>C (p.Val1337Ala)
c.4142T>C (p.Val1381Ala)
c.3962T>C (p.Val1321Ala)
c.3899T>C (p.Val1300Ala)
c.3743T>C (p.Val1248Ala)
c.3674T>C (p.Val1225Ala)
dbSNP ExAC gnomAD
6g.33164859A>TCA363617387COL11A2c.4856T>A (p.Val1619Asp)
c.4535T>A (p.Val1512Asp)
c.4598T>A (p.Val1533Asp)
n.646T>A
c.4010T>A (p.Val1337Asp)
c.4142T>A (p.Val1381Asp)
c.3962T>A (p.Val1321Asp)
c.3899T>A (p.Val1300Asp)
c.3743T>A (p.Val1248Asp)
c.3674T>A (p.Val1225Asp)
gnomAD
6g.33164860C>ACA363617394COL11A2c.4855G>T (p.Val1619Phe)
c.4534G>T (p.Val1512Phe)
c.4597G>T (p.Val1533Phe)
n.645G>T
c.4009G>T (p.Val1337Phe)
c.4141G>T (p.Val1381Phe)
c.3961G>T (p.Val1321Phe)
c.3898G>T (p.Val1300Phe)
c.3742G>T (p.Val1248Phe)
c.3673G>T (p.Val1225Phe)
6g.33164860C=CA1619890421COL11A2c.4855G= (p.Val1619=)
c.4534G= (p.Val1512=)
c.4597G= (p.Val1533=)
n.645G=
c.4009G= (p.Val1337=)
c.4141G= (p.Val1381=)
c.3961G= (p.Val1321=)
c.3898G= (p.Val1300=)
c.3742G= (p.Val1248=)
c.3673G= (p.Val1225=)
6g.33164860C>GCA363617395COL11A2c.4855G>C (p.Val1619Leu)
c.4534G>C (p.Val1512Leu)
c.4597G>C (p.Val1533Leu)
n.645G>C
c.4009G>C (p.Val1337Leu)
c.4141G>C (p.Val1381Leu)
c.3961G>C (p.Val1321Leu)
c.3898G>C (p.Val1300Leu)
c.3742G>C (p.Val1248Leu)
c.3673G>C (p.Val1225Leu)
6g.33164860C>TCA363617396COL11A2c.4855G>A (p.Val1619Ile)
c.4534G>A (p.Val1512Ile)
c.4597G>A (p.Val1533Ile)
n.645G>A
c.4009G>A (p.Val1337Ile)
c.4141G>A (p.Val1381Ile)
c.3961G>A (p.Val1321Ile)
c.3898G>A (p.Val1300Ile)
c.3742G>A (p.Val1248Ile)
c.3673G>A (p.Val1225Ile)
gnomAD
6g.33164861G>ACA3749988COL11A2c.4854C>T (p.Asp1618=)
c.4533C>T (p.Asp1511=)
c.4596C>T (p.Asp1532=)
n.644C>T
c.4008C>T (p.Asp1336=)
c.4140C>T (p.Asp1380=)
c.3960C>T (p.Asp1320=)
c.3897C>T (p.Asp1299=)
c.3741C>T (p.Asp1247=)
c.3672C>T (p.Asp1224=)
ClinVar dbSNP ExAC gnomAD COSMIC
6g.33164861G>CCA3749989COL11A2c.4854C>G (p.Asp1618Glu)
c.4533C>G (p.Asp1511Glu)
c.4596C>G (p.Asp1532Glu)
n.644C>G
c.4008C>G (p.Asp1336Glu)
c.4140C>G (p.Asp1380Glu)
c.3960C>G (p.Asp1320Glu)
c.3897C>G (p.Asp1299Glu)
c.3741C>G (p.Asp1247Glu)
c.3672C>G (p.Asp1224Glu)
ClinVar dbSNP ExAC gnomAD COSMIC
6g.33164861G=CA1619890425COL11A2c.4854C= (p.Asp1618=)
c.4533C= (p.Asp1511=)
c.4596C= (p.Asp1532=)
n.644C=
c.4008C= (p.Asp1336=)
c.4140C= (p.Asp1380=)
c.3960C= (p.Asp1320=)
c.3897C= (p.Asp1299=)
c.3741C= (p.Asp1247=)
c.3672C= (p.Asp1224=)
6g.33164861G>TCA363617400COL11A2c.4854C>A (p.Asp1618Glu)
c.4533C>A (p.Asp1511Glu)
c.4596C>A (p.Asp1532Glu)
n.644C>A
c.4008C>A (p.Asp1336Glu)
c.4140C>A (p.Asp1380Glu)
c.3960C>A (p.Asp1320Glu)
c.3897C>A (p.Asp1299Glu)
c.3741C>A (p.Asp1247Glu)
c.3672C>A (p.Asp1224Glu)
6g.33164862T>ACA363617401COL11A2c.4853A>T (p.Asp1618Val)
c.4532A>T (p.Asp1511Val)
c.4595A>T (p.Asp1532Val)
n.643A>T
c.4007A>T (p.Asp1336Val)
c.4139A>T (p.Asp1380Val)
c.3959A>T (p.Asp1320Val)
c.3896A>T (p.Asp1299Val)
c.3740A>T (p.Asp1247Val)
c.3671A>T (p.Asp1224Val)
6g.33164862T>CCA363617405COL11A2c.4853A>G (p.Asp1618Gly)
c.4532A>G (p.Asp1511Gly)
c.4595A>G (p.Asp1532Gly)
n.643A>G
c.4007A>G (p.Asp1336Gly)
c.4139A>G (p.Asp1380Gly)
c.3959A>G (p.Asp1320Gly)
c.3896A>G (p.Asp1299Gly)
c.3740A>G (p.Asp1247Gly)
c.3671A>G (p.Asp1224Gly)

Number of alleles fetched