Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33171064G>TCA2536073316COL11A2c.3366+50C>A (n.3366+50C>A)
c.3045+50C>A (n.3045+50C>A)
c.3108+50C>A (n.3108+50C>A)
n.273-5248C>A
c.2520+50C>A (n.2520+50C>A)
c.2652+50C>A (n.2652+50C>A)
c.2472+50C>A (n.2472+50C>A)
c.2409+50C>A (n.2409+50C>A)
c.2253+50C>A (n.2253+50C>A)
c.2184+50C>A (n.2184+50C>A)
 gnomAD v4
6g.33171065G>TCA2564435509COL11A2c.3366+49C>A (n.3366+49C>A)
c.3045+49C>A (n.3045+49C>A)
c.3108+49C>A (n.3108+49C>A)
n.273-5249C>A
c.2520+49C>A (n.2520+49C>A)
c.2652+49C>A (n.2652+49C>A)
c.2472+49C>A (n.2472+49C>A)
c.2409+49C>A (n.2409+49C>A)
c.2253+49C>A (n.2253+49C>A)
c.2184+49C>A (n.2184+49C>A)
6g.33171067G>ACA824017168COL11A2c.3366+47C>T (n.3366+47C>T)
c.3045+47C>T (n.3045+47C>T)
c.3108+47C>T (n.3108+47C>T)
n.273-5251C>T
c.2520+47C>T (n.2520+47C>T)
c.2652+47C>T (n.2652+47C>T)
c.2472+47C>T (n.2472+47C>T)
c.2409+47C>T (n.2409+47C>T)
c.2253+47C>T (n.2253+47C>T)
c.2184+47C>T (n.2184+47C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.33171067G=CA1619896897COL11A2c.3366+47C= (n.3366+47C=)
c.3045+47C= (n.3045+47C=)
c.3108+47C= (n.3108+47C=)
n.273-5251C=
c.2520+47C= (n.2520+47C=)
c.2652+47C= (n.2652+47C=)
c.2472+47C= (n.2472+47C=)
c.2409+47C= (n.2409+47C=)
c.2253+47C= (n.2253+47C=)
c.2184+47C= (n.2184+47C=)
6g.33171068G>ACA2841509294COL11A2c.3366+46C>T (n.3366+46C>T)
c.3045+46C>T (n.3045+46C>T)
c.3108+46C>T (n.3108+46C>T)
n.273-5252C>T
c.2520+46C>T (n.2520+46C>T)
c.2652+46C>T (n.2652+46C>T)
c.2472+46C>T (n.2472+46C>T)
c.2409+46C>T (n.2409+46C>T)
c.2253+46C>T (n.2253+46C>T)
c.2184+46C>T (n.2184+46C>T)
6g.33171068G>TCA2678230651COL11A2c.3366+46C>A (n.3366+46C>A)
c.3045+46C>A (n.3045+46C>A)
c.3108+46C>A (n.3108+46C>A)
n.273-5252C>A
c.2520+46C>A (n.2520+46C>A)
c.2652+46C>A (n.2652+46C>A)
c.2472+46C>A (n.2472+46C>A)
c.2409+46C>A (n.2409+46C>A)
c.2253+46C>A (n.2253+46C>A)
c.2184+46C>A (n.2184+46C>A)
 gnomAD v4
6g.33171070C>ACA2678230652COL11A2c.3366+44G>T (n.3366+44G>T)
c.3045+44G>T (n.3045+44G>T)
c.3108+44G>T (n.3108+44G>T)
n.273-5254G>T
c.2520+44G>T (n.2520+44G>T)
c.2652+44G>T (n.2652+44G>T)
c.2472+44G>T (n.2472+44G>T)
c.2409+44G>T (n.2409+44G>T)
c.2253+44G>T (n.2253+44G>T)
c.2184+44G>T (n.2184+44G>T)
 gnomAD v4
6g.33171070C=CA1619896898COL11A2c.3366+44G= (n.3366+44G=)
c.3045+44G= (n.3045+44G=)
c.3108+44G= (n.3108+44G=)
n.273-5254G=
c.2520+44G= (n.2520+44G=)
c.2652+44G= (n.2652+44G=)
c.2472+44G= (n.2472+44G=)
c.2409+44G= (n.2409+44G=)
c.2253+44G= (n.2253+44G=)
c.2184+44G= (n.2184+44G=)
6g.33171070C>TCA566427871COL11A2c.3366+44G>A (n.3366+44G>A)
c.3045+44G>A (n.3045+44G>A)
c.3108+44G>A (n.3108+44G>A)
n.273-5254G>A
c.2520+44G>A (n.2520+44G>A)
c.2652+44G>A (n.2652+44G>A)
c.2472+44G>A (n.2472+44G>A)
c.2409+44G>A (n.2409+44G>A)
c.2253+44G>A (n.2253+44G>A)
c.2184+44G>A (n.2184+44G>A)
 dbSNP gnomAD v2
6g.33171071delCA2841509295COL11A2c.3366+44del (n.3366+44del)
c.3045+44del (n.3045+44del)
c.3108+44del (n.3108+44del)
n.273-5254del
c.2520+44del (n.2520+44del)
c.2652+44del (n.2652+44del)
c.2472+44del (n.2472+44del)
c.2409+44del (n.2409+44del)
c.2253+44del (n.2253+44del)
c.2184+44del (n.2184+44del)
6g.33171071C>ACA2678230654COL11A2c.3366+43G>T (n.3366+43G>T)
c.3045+43G>T (n.3045+43G>T)
c.3108+43G>T (n.3108+43G>T)
n.273-5255G>T
c.2520+43G>T (n.2520+43G>T)
c.2652+43G>T (n.2652+43G>T)
c.2472+43G>T (n.2472+43G>T)
c.2409+43G>T (n.2409+43G>T)
c.2253+43G>T (n.2253+43G>T)
c.2184+43G>T (n.2184+43G>T)
 gnomAD v4
6g.33171072A>GCA2841509296COL11A2c.3366+42T>C (n.3366+42T>C)
c.3045+42T>C (n.3045+42T>C)
c.3108+42T>C (n.3108+42T>C)
n.273-5256T>C
c.2520+42T>C (n.2520+42T>C)
c.2652+42T>C (n.2652+42T>C)
c.2472+42T>C (n.2472+42T>C)
c.2409+42T>C (n.2409+42T>C)
c.2253+42T>C (n.2253+42T>C)
c.2184+42T>C (n.2184+42T>C)
6g.33171073G>ACA824017169COL11A2c.3366+41C>T (n.3366+41C>T)
c.3045+41C>T (n.3045+41C>T)
c.3108+41C>T (n.3108+41C>T)
n.273-5257C>T
c.2520+41C>T (n.2520+41C>T)
c.2652+41C>T (n.2652+41C>T)
c.2472+41C>T (n.2472+41C>T)
c.2409+41C>T (n.2409+41C>T)
c.2253+41C>T (n.2253+41C>T)
c.2184+41C>T (n.2184+41C>T)
 dbSNP gnomAD v4
6g.33171073G>CCA824017170COL11A2c.3366+41C>G (n.3366+41C>G)
c.3045+41C>G (n.3045+41C>G)
c.3108+41C>G (n.3108+41C>G)
n.273-5257C>G
c.2520+41C>G (n.2520+41C>G)
c.2652+41C>G (n.2652+41C>G)
c.2472+41C>G (n.2472+41C>G)
c.2409+41C>G (n.2409+41C>G)
c.2253+41C>G (n.2253+41C>G)
c.2184+41C>G (n.2184+41C>G)
 dbSNP
6g.33171073G=CA1619896899COL11A2c.3366+41C= (n.3366+41C=)
c.3045+41C= (n.3045+41C=)
c.3108+41C= (n.3108+41C=)
n.273-5257C=
c.2520+41C= (n.2520+41C=)
c.2652+41C= (n.2652+41C=)
c.2472+41C= (n.2472+41C=)
c.2409+41C= (n.2409+41C=)
c.2253+41C= (n.2253+41C=)
c.2184+41C= (n.2184+41C=)
6g.33171075G>ACA824017171COL11A2c.3366+39C>T (n.3366+39C>T)
c.3045+39C>T (n.3045+39C>T)
c.3108+39C>T (n.3108+39C>T)
n.273-5259C>T
c.2520+39C>T (n.2520+39C>T)
c.2652+39C>T (n.2652+39C>T)
c.2472+39C>T (n.2472+39C>T)
c.2409+39C>T (n.2409+39C>T)
c.2253+39C>T (n.2253+39C>T)
c.2184+39C>T (n.2184+39C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.33171075G=CA1619896900COL11A2c.3366+39C= (n.3366+39C=)
c.3045+39C= (n.3045+39C=)
c.3108+39C= (n.3108+39C=)
n.273-5259C=
c.2520+39C= (n.2520+39C=)
c.2652+39C= (n.2652+39C=)
c.2472+39C= (n.2472+39C=)
c.2409+39C= (n.2409+39C=)
c.2253+39C= (n.2253+39C=)
c.2184+39C= (n.2184+39C=)
6g.33171076G>ACA2839193863COL11A2c.3366+38C>T (n.3366+38C>T)
c.3045+38C>T (n.3045+38C>T)
c.3108+38C>T (n.3108+38C>T)
n.273-5260C>T
c.2520+38C>T (n.2520+38C>T)
c.2652+38C>T (n.2652+38C>T)
c.2472+38C>T (n.2472+38C>T)
c.2409+38C>T (n.2409+38C>T)
c.2253+38C>T (n.2253+38C>T)
c.2184+38C>T (n.2184+38C>T)
6g.33171076G>TCA2678230659COL11A2c.3366+38C>A (n.3366+38C>A)
c.3045+38C>A (n.3045+38C>A)
c.3108+38C>A (n.3108+38C>A)
n.273-5260C>A
c.2520+38C>A (n.2520+38C>A)
c.2652+38C>A (n.2652+38C>A)
c.2472+38C>A (n.2472+38C>A)
c.2409+38C>A (n.2409+38C>A)
c.2253+38C>A (n.2253+38C>A)
c.2184+38C>A (n.2184+38C>A)
 gnomAD v4
6g.33171077C>ACA2678230661COL11A2c.3366+37G>T (n.3366+37G>T)
c.3045+37G>T (n.3045+37G>T)
c.3108+37G>T (n.3108+37G>T)
n.273-5261G>T
c.2520+37G>T (n.2520+37G>T)
c.2652+37G>T (n.2652+37G>T)
c.2472+37G>T (n.2472+37G>T)
c.2409+37G>T (n.2409+37G>T)
c.2253+37G>T (n.2253+37G>T)
c.2184+37G>T (n.2184+37G>T)
 gnomAD v4
6g.33171077C>GCA2841509297COL11A2c.3366+37G>C (n.3366+37G>C)
c.3045+37G>C (n.3045+37G>C)
c.3108+37G>C (n.3108+37G>C)
n.273-5261G>C
c.2520+37G>C (n.2520+37G>C)
c.2652+37G>C (n.2652+37G>C)
c.2472+37G>C (n.2472+37G>C)
c.2409+37G>C (n.2409+37G>C)
c.2253+37G>C (n.2253+37G>C)
c.2184+37G>C (n.2184+37G>C)
6g.33171077C>TCA2499742766COL11A2c.3366+37G>A (n.3366+37G>A)
c.3045+37G>A (n.3045+37G>A)
c.3108+37G>A (n.3108+37G>A)
n.273-5261G>A
c.2520+37G>A (n.2520+37G>A)
c.2652+37G>A (n.2652+37G>A)
c.2472+37G>A (n.2472+37G>A)
c.2409+37G>A (n.2409+37G>A)
c.2253+37G>A (n.2253+37G>A)
c.2184+37G>A (n.2184+37G>A)
 gnomAD v4
6g.33171079G>ACA2678230665COL11A2c.3366+35C>T (n.3366+35C>T)
c.3045+35C>T (n.3045+35C>T)
c.3108+35C>T (n.3108+35C>T)
n.273-5263C>T
c.2520+35C>T (n.2520+35C>T)
c.2652+35C>T (n.2652+35C>T)
c.2472+35C>T (n.2472+35C>T)
c.2409+35C>T (n.2409+35C>T)
c.2253+35C>T (n.2253+35C>T)
c.2184+35C>T (n.2184+35C>T)
 gnomAD v4
6g.33171079G>TCA2678230666COL11A2c.3366+35C>A (n.3366+35C>A)
c.3045+35C>A (n.3045+35C>A)
c.3108+35C>A (n.3108+35C>A)
n.273-5263C>A
c.2520+35C>A (n.2520+35C>A)
c.2652+35C>A (n.2652+35C>A)
c.2472+35C>A (n.2472+35C>A)
c.2409+35C>A (n.2409+35C>A)
c.2253+35C>A (n.2253+35C>A)
c.2184+35C>A (n.2184+35C>A)
 gnomAD v4
6g.33171080C>ACA2678230668COL11A2c.3366+34G>T (n.3366+34G>T)
c.3045+34G>T (n.3045+34G>T)
c.3108+34G>T (n.3108+34G>T)
n.273-5264G>T
c.2520+34G>T (n.2520+34G>T)
c.2652+34G>T (n.2652+34G>T)
c.2472+34G>T (n.2472+34G>T)
c.2409+34G>T (n.2409+34G>T)
c.2253+34G>T (n.2253+34G>T)
c.2184+34G>T (n.2184+34G>T)
 gnomAD v4
6g.33171080C>GCA2678230670COL11A2c.3366+34G>C (n.3366+34G>C)
c.3045+34G>C (n.3045+34G>C)
c.3108+34G>C (n.3108+34G>C)
n.273-5264G>C
c.2520+34G>C (n.2520+34G>C)
c.2652+34G>C (n.2652+34G>C)
c.2472+34G>C (n.2472+34G>C)
c.2409+34G>C (n.2409+34G>C)
c.2253+34G>C (n.2253+34G>C)
c.2184+34G>C (n.2184+34G>C)
 gnomAD v4
6g.33171080C>TCA2678230669COL11A2c.3366+34G>A (n.3366+34G>A)
c.3045+34G>A (n.3045+34G>A)
c.3108+34G>A (n.3108+34G>A)
n.273-5264G>A
c.2520+34G>A (n.2520+34G>A)
c.2652+34G>A (n.2652+34G>A)
c.2472+34G>A (n.2472+34G>A)
c.2409+34G>A (n.2409+34G>A)
c.2253+34G>A (n.2253+34G>A)
c.2184+34G>A (n.2184+34G>A)
 gnomAD v4
6g.33171081delCA2841509298COL11A2c.3366+33del (n.3366+33del)
c.3045+33del (n.3045+33del)
c.3108+33del (n.3108+33del)
n.273-5265del
c.2520+33del (n.2520+33del)
c.2652+33del (n.2652+33del)
c.2472+33del (n.2472+33del)
c.2409+33del (n.2409+33del)
c.2253+33del (n.2253+33del)
c.2184+33del (n.2184+33del)
6g.33171082G>TCA2841509299COL11A2c.3366+32C>A (n.3366+32C>A)
c.3045+32C>A (n.3045+32C>A)
c.3108+32C>A (n.3108+32C>A)
n.273-5266C>A
c.2520+32C>A (n.2520+32C>A)
c.2652+32C>A (n.2652+32C>A)
c.2472+32C>A (n.2472+32C>A)
c.2409+32C>A (n.2409+32C>A)
c.2253+32C>A (n.2253+32C>A)
c.2184+32C>A (n.2184+32C>A)
6g.33171084delCA2678230672COL11A2c.3366+32del (n.3366+32del)
c.3045+32del (n.3045+32del)
c.3108+32del (n.3108+32del)
n.273-5266del
c.2520+32del (n.2520+32del)
c.2652+32del (n.2652+32del)
c.2472+32del (n.2472+32del)
c.2409+32del (n.2409+32del)
c.2253+32del (n.2253+32del)
c.2184+32del (n.2184+32del)
 gnomAD v4
6g.33171083G>ACA3750531COL11A2c.3366+31C>T (n.3366+31C>T)
c.3045+31C>T (n.3045+31C>T)
c.3108+31C>T (n.3108+31C>T)
n.273-5267C>T
c.2520+31C>T (n.2520+31C>T)
c.2652+31C>T (n.2652+31C>T)
c.2472+31C>T (n.2472+31C>T)
c.2409+31C>T (n.2409+31C>T)
c.2253+31C>T (n.2253+31C>T)
c.2184+31C>T (n.2184+31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33171083G=CA1619896901COL11A2c.3366+31C= (n.3366+31C=)
c.3045+31C= (n.3045+31C=)
c.3108+31C= (n.3108+31C=)
n.273-5267C=
c.2520+31C= (n.2520+31C=)
c.2652+31C= (n.2652+31C=)
c.2472+31C= (n.2472+31C=)
c.2409+31C= (n.2409+31C=)
c.2253+31C= (n.2253+31C=)
c.2184+31C= (n.2184+31C=)
6g.33171083G>TCA2841509300COL11A2c.3366+31C>A (n.3366+31C>A)
c.3045+31C>A (n.3045+31C>A)
c.3108+31C>A (n.3108+31C>A)
n.273-5267C>A
c.2520+31C>A (n.2520+31C>A)
c.2652+31C>A (n.2652+31C>A)
c.2472+31C>A (n.2472+31C>A)
c.2409+31C>A (n.2409+31C>A)
c.2253+31C>A (n.2253+31C>A)
c.2184+31C>A (n.2184+31C>A)
6g.33171084G>ACA2711424467COL11A2c.3366+30C>T (n.3366+30C>T)
c.3045+30C>T (n.3045+30C>T)
c.3108+30C>T (n.3108+30C>T)
n.273-5268C>T
c.2520+30C>T (n.2520+30C>T)
c.2652+30C>T (n.2652+30C>T)
c.2472+30C>T (n.2472+30C>T)
c.2409+30C>T (n.2409+30C>T)
c.2253+30C>T (n.2253+30C>T)
c.2184+30C>T (n.2184+30C>T)
 dbSNP
6g.33171085C>TCA2678230678COL11A2c.3366+29G>A (n.3366+29G>A)
c.3045+29G>A (n.3045+29G>A)
c.3108+29G>A (n.3108+29G>A)
n.273-5269G>A
c.2520+29G>A (n.2520+29G>A)
c.2652+29G>A (n.2652+29G>A)
c.2472+29G>A (n.2472+29G>A)
c.2409+29G>A (n.2409+29G>A)
c.2253+29G>A (n.2253+29G>A)
c.2184+29G>A (n.2184+29G>A)
 gnomAD v4
6g.33171086C>ACA2678230680COL11A2c.3366+28G>T (n.3366+28G>T)
c.3045+28G>T (n.3045+28G>T)
c.3108+28G>T (n.3108+28G>T)
n.273-5270G>T
c.2520+28G>T (n.2520+28G>T)
c.2652+28G>T (n.2652+28G>T)
c.2472+28G>T (n.2472+28G>T)
c.2409+28G>T (n.2409+28G>T)
c.2253+28G>T (n.2253+28G>T)
c.2184+28G>T (n.2184+28G>T)
 gnomAD v4
6g.33171088T>CCA2841509301COL11A2c.3366+26A>G (n.3366+26A>G)
c.3045+26A>G (n.3045+26A>G)
c.3108+26A>G (n.3108+26A>G)
n.273-5272A>G
c.2520+26A>G (n.2520+26A>G)
c.2652+26A>G (n.2652+26A>G)
c.2472+26A>G (n.2472+26A>G)
c.2409+26A>G (n.2409+26A>G)
c.2253+26A>G (n.2253+26A>G)
c.2184+26A>G (n.2184+26A>G)
6g.33171089C>ACA2678230682COL11A2c.3366+25G>T (n.3366+25G>T)
c.3045+25G>T (n.3045+25G>T)
c.3108+25G>T (n.3108+25G>T)
n.273-5273G>T
c.2520+25G>T (n.2520+25G>T)
c.2652+25G>T (n.2652+25G>T)
c.2472+25G>T (n.2472+25G>T)
c.2409+25G>T (n.2409+25G>T)
c.2253+25G>T (n.2253+25G>T)
c.2184+25G>T (n.2184+25G>T)
 gnomAD v4
6g.33171089C=CA1619896902COL11A2c.3366+25G= (n.3366+25G=)
c.3045+25G= (n.3045+25G=)
c.3108+25G= (n.3108+25G=)
n.273-5273G=
c.2520+25G= (n.2520+25G=)
c.2652+25G= (n.2652+25G=)
c.2472+25G= (n.2472+25G=)
c.2409+25G= (n.2409+25G=)
c.2253+25G= (n.2253+25G=)
c.2184+25G= (n.2184+25G=)
6g.33171089C>TCA3750532COL11A2c.3366+25G>A (n.3366+25G>A)
c.3045+25G>A (n.3045+25G>A)
c.3108+25G>A (n.3108+25G>A)
n.273-5273G>A
c.2520+25G>A (n.2520+25G>A)
c.2652+25G>A (n.2652+25G>A)
c.2472+25G>A (n.2472+25G>A)
c.2409+25G>A (n.2409+25G>A)
c.2253+25G>A (n.2253+25G>A)
c.2184+25G>A (n.2184+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171090G>ACA3750533COL11A2c.3366+24C>T (n.3366+24C>T)
c.3045+24C>T (n.3045+24C>T)
c.3108+24C>T (n.3108+24C>T)
n.273-5274C>T
c.2520+24C>T (n.2520+24C>T)
c.2652+24C>T (n.2652+24C>T)
c.2472+24C>T (n.2472+24C>T)
c.2409+24C>T (n.2409+24C>T)
c.2253+24C>T (n.2253+24C>T)
c.2184+24C>T (n.2184+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171090G=CA1619896903COL11A2c.3366+24C= (n.3366+24C=)
c.3045+24C= (n.3045+24C=)
c.3108+24C= (n.3108+24C=)
n.273-5274C=
c.2520+24C= (n.2520+24C=)
c.2652+24C= (n.2652+24C=)
c.2472+24C= (n.2472+24C=)
c.2409+24C= (n.2409+24C=)
c.2253+24C= (n.2253+24C=)
c.2184+24C= (n.2184+24C=)
6g.33171090G>TCA449876378COL11A2c.3366+24C>A (n.3366+24C>A)
c.3045+24C>A (n.3045+24C>A)
c.3108+24C>A (n.3108+24C>A)
n.273-5274C>A
c.2520+24C>A (n.2520+24C>A)
c.2652+24C>A (n.2652+24C>A)
c.2472+24C>A (n.2472+24C>A)
c.2409+24C>A (n.2409+24C>A)
c.2253+24C>A (n.2253+24C>A)
c.2184+24C>A (n.2184+24C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.33171091G>ACA3750534COL11A2c.3366+23C>T (n.3366+23C>T)
c.3045+23C>T (n.3045+23C>T)
c.3108+23C>T (n.3108+23C>T)
n.273-5275C>T
c.2520+23C>T (n.2520+23C>T)
c.2652+23C>T (n.2652+23C>T)
c.2472+23C>T (n.2472+23C>T)
c.2409+23C>T (n.2409+23C>T)
c.2253+23C>T (n.2253+23C>T)
c.2184+23C>T (n.2184+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171091G=CA1619896904COL11A2c.3366+23C= (n.3366+23C=)
c.3045+23C= (n.3045+23C=)
c.3108+23C= (n.3108+23C=)
n.273-5275C=
c.2520+23C= (n.2520+23C=)
c.2652+23C= (n.2652+23C=)
c.2472+23C= (n.2472+23C=)
c.2409+23C= (n.2409+23C=)
c.2253+23C= (n.2253+23C=)
c.2184+23C= (n.2184+23C=)
6g.33171091G>TCA2838301852COL11A2c.3366+23C>A (n.3366+23C>A)
c.3045+23C>A (n.3045+23C>A)
c.3108+23C>A (n.3108+23C>A)
n.273-5275C>A
c.2520+23C>A (n.2520+23C>A)
c.2652+23C>A (n.2652+23C>A)
c.2472+23C>A (n.2472+23C>A)
c.2409+23C>A (n.2409+23C>A)
c.2253+23C>A (n.2253+23C>A)
c.2184+23C>A (n.2184+23C>A)
6g.33171092T>GCA566427881COL11A2c.3366+22A>C (n.3366+22A>C)
c.3045+22A>C (n.3045+22A>C)
c.3108+22A>C (n.3108+22A>C)
n.273-5276A>C
c.2520+22A>C (n.2520+22A>C)
c.2652+22A>C (n.2652+22A>C)
c.2472+22A>C (n.2472+22A>C)
c.2409+22A>C (n.2409+22A>C)
c.2253+22A>C (n.2253+22A>C)
c.2184+22A>C (n.2184+22A>C)
 dbSNP gnomAD v2 gnomAD v4
6g.33171092T=CA1619896906COL11A2c.3366+22A= (n.3366+22A=)
c.3045+22A= (n.3045+22A=)
c.3108+22A= (n.3108+22A=)
n.273-5276A=
c.2520+22A= (n.2520+22A=)
c.2652+22A= (n.2652+22A=)
c.2472+22A= (n.2472+22A=)
c.2409+22A= (n.2409+22A=)
c.2253+22A= (n.2253+22A=)
c.2184+22A= (n.2184+22A=)
6g.33171092_33171093delinsTGCA1619896905COL11A2c.3366+21_3366+22delinsCA (n.3366+21_3366+22delinsCA)
c.3045+21_3045+22delinsCA (n.3045+21_3045+22delinsCA)
c.3108+21_3108+22delinsCA (n.3108+21_3108+22delinsCA)
n.273-5277_273-5276delinsCA
c.2520+21_2520+22delinsCA (n.2520+21_2520+22delinsCA)
c.2652+21_2652+22delinsCA (n.2652+21_2652+22delinsCA)
c.2472+21_2472+22delinsCA (n.2472+21_2472+22delinsCA)
c.2409+21_2409+22delinsCA (n.2409+21_2409+22delinsCA)
c.2253+21_2253+22delinsCA (n.2253+21_2253+22delinsCA)
c.2184+21_2184+22delinsCA (n.2184+21_2184+22delinsCA)
6g.33171093G>ACA2678230697COL11A2c.3366+21C>T (n.3366+21C>T)
c.3045+21C>T (n.3045+21C>T)
c.3108+21C>T (n.3108+21C>T)
n.273-5277C>T
c.2520+21C>T (n.2520+21C>T)
c.2652+21C>T (n.2652+21C>T)
c.2472+21C>T (n.2472+21C>T)
c.2409+21C>T (n.2409+21C>T)
c.2253+21C>T (n.2253+21C>T)
c.2184+21C>T (n.2184+21C>T)
 gnomAD v4
6g.33171093G>CCA566427883COL11A2c.3366+21C>G (n.3366+21C>G)
c.3045+21C>G (n.3045+21C>G)
c.3108+21C>G (n.3108+21C>G)
n.273-5277C>G
c.2520+21C>G (n.2520+21C>G)
c.2652+21C>G (n.2652+21C>G)
c.2472+21C>G (n.2472+21C>G)
c.2409+21C>G (n.2409+21C>G)
c.2253+21C>G (n.2253+21C>G)
c.2184+21C>G (n.2184+21C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33171093G=CA1619896907COL11A2c.3366+21C= (n.3366+21C=)
c.3045+21C= (n.3045+21C=)
c.3108+21C= (n.3108+21C=)
n.273-5277C=
c.2520+21C= (n.2520+21C=)
c.2652+21C= (n.2652+21C=)
c.2472+21C= (n.2472+21C=)
c.2409+21C= (n.2409+21C=)
c.2253+21C= (n.2253+21C=)
c.2184+21C= (n.2184+21C=)
6g.33171093G>TCA3750536COL11A2c.3366+21C>A (n.3366+21C>A)
c.3045+21C>A (n.3045+21C>A)
c.3108+21C>A (n.3108+21C>A)
n.273-5277C>A
c.2520+21C>A (n.2520+21C>A)
c.2652+21C>A (n.2652+21C>A)
c.2472+21C>A (n.2472+21C>A)
c.2409+21C>A (n.2409+21C>A)
c.2253+21C>A (n.2253+21C>A)
c.2184+21C>A (n.2184+21C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33171097delCA3750535COL11A2c.3366+21del (n.3366+21del)
c.3045+21del (n.3045+21del)
c.3108+21del (n.3108+21del)
n.273-5277del
c.2520+21del (n.2520+21del)
c.2652+21del (n.2652+21del)
c.2472+21del (n.2472+21del)
c.2409+21del (n.2409+21del)
c.2253+21del (n.2253+21del)
c.2184+21del (n.2184+21del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171094G>TCA2678230702COL11A2c.3366+20C>A (n.3366+20C>A)
c.3045+20C>A (n.3045+20C>A)
c.3108+20C>A (n.3108+20C>A)
n.273-5278C>A
c.2520+20C>A (n.2520+20C>A)
c.2652+20C>A (n.2652+20C>A)
c.2472+20C>A (n.2472+20C>A)
c.2409+20C>A (n.2409+20C>A)
c.2253+20C>A (n.2253+20C>A)
c.2184+20C>A (n.2184+20C>A)
 gnomAD v4
6g.33171095G>ACA566427884COL11A2c.3366+19C>T (n.3366+19C>T)
c.3045+19C>T (n.3045+19C>T)
c.3108+19C>T (n.3108+19C>T)
n.273-5279C>T
c.2520+19C>T (n.2520+19C>T)
c.2652+19C>T (n.2652+19C>T)
c.2472+19C>T (n.2472+19C>T)
c.2409+19C>T (n.2409+19C>T)
c.2253+19C>T (n.2253+19C>T)
c.2184+19C>T (n.2184+19C>T)
 dbSNP gnomAD v2
6g.33171095G=CA1619896908COL11A2c.3366+19C= (n.3366+19C=)
c.3045+19C= (n.3045+19C=)
c.3108+19C= (n.3108+19C=)
n.273-5279C=
c.2520+19C= (n.2520+19C=)
c.2652+19C= (n.2652+19C=)
c.2472+19C= (n.2472+19C=)
c.2409+19C= (n.2409+19C=)
c.2253+19C= (n.2253+19C=)
c.2184+19C= (n.2184+19C=)
6g.33171095G>TCA2678230708COL11A2c.3366+19C>A (n.3366+19C>A)
c.3045+19C>A (n.3045+19C>A)
c.3108+19C>A (n.3108+19C>A)
n.273-5279C>A
c.2520+19C>A (n.2520+19C>A)
c.2652+19C>A (n.2652+19C>A)
c.2472+19C>A (n.2472+19C>A)
c.2409+19C>A (n.2409+19C>A)
c.2253+19C>A (n.2253+19C>A)
c.2184+19C>A (n.2184+19C>A)
 gnomAD v4
6g.33171096G>ACA566427885COL11A2c.3366+18C>T (n.3366+18C>T)
c.3045+18C>T (n.3045+18C>T)
c.3108+18C>T (n.3108+18C>T)
n.273-5280C>T
c.2520+18C>T (n.2520+18C>T)
c.2652+18C>T (n.2652+18C>T)
c.2472+18C>T (n.2472+18C>T)
c.2409+18C>T (n.2409+18C>T)
c.2253+18C>T (n.2253+18C>T)
c.2184+18C>T (n.2184+18C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.33171096G=CA1619896909COL11A2c.3366+18C= (n.3366+18C=)
c.3045+18C= (n.3045+18C=)
c.3108+18C= (n.3108+18C=)
n.273-5280C=
c.2520+18C= (n.2520+18C=)
c.2652+18C= (n.2652+18C=)
c.2472+18C= (n.2472+18C=)
c.2409+18C= (n.2409+18C=)
c.2253+18C= (n.2253+18C=)
c.2184+18C= (n.2184+18C=)
6g.33171096G>TCA824017197COL11A2c.3366+18C>A (n.3366+18C>A)
c.3045+18C>A (n.3045+18C>A)
c.3108+18C>A (n.3108+18C>A)
n.273-5280C>A
c.2520+18C>A (n.2520+18C>A)
c.2652+18C>A (n.2652+18C>A)
c.2472+18C>A (n.2472+18C>A)
c.2409+18C>A (n.2409+18C>A)
c.2253+18C>A (n.2253+18C>A)
c.2184+18C>A (n.2184+18C>A)
 dbSNP gnomAD v4
6g.33171097G>ACA2678230715COL11A2c.3366+17C>T (n.3366+17C>T)
c.3045+17C>T (n.3045+17C>T)
c.3108+17C>T (n.3108+17C>T)
n.273-5281C>T
c.2520+17C>T (n.2520+17C>T)
c.2652+17C>T (n.2652+17C>T)
c.2472+17C>T (n.2472+17C>T)
c.2409+17C>T (n.2409+17C>T)
c.2253+17C>T (n.2253+17C>T)
c.2184+17C>T (n.2184+17C>T)
 gnomAD v4
6g.33171097G=CA1619896910COL11A2c.3366+17C= (n.3366+17C=)
c.3045+17C= (n.3045+17C=)
c.3108+17C= (n.3108+17C=)
n.273-5281C=
c.2520+17C= (n.2520+17C=)
c.2652+17C= (n.2652+17C=)
c.2472+17C= (n.2472+17C=)
c.2409+17C= (n.2409+17C=)
c.2253+17C= (n.2253+17C=)
c.2184+17C= (n.2184+17C=)
6g.33171097G>TCA3750537COL11A2c.3366+17C>A (n.3366+17C>A)
c.3045+17C>A (n.3045+17C>A)
c.3108+17C>A (n.3108+17C>A)
n.273-5281C>A
c.2520+17C>A (n.2520+17C>A)
c.2652+17C>A (n.2652+17C>A)
c.2472+17C>A (n.2472+17C>A)
c.2409+17C>A (n.2409+17C>A)
c.2253+17C>A (n.2253+17C>A)
c.2184+17C>A (n.2184+17C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171098T>GCA1087641496COL11A2c.3366+16A>C (n.3366+16A>C)
c.3045+16A>C (n.3045+16A>C)
c.3108+16A>C (n.3108+16A>C)
n.273-5282A>C
c.2520+16A>C (n.2520+16A>C)
c.2652+16A>C (n.2652+16A>C)
c.2472+16A>C (n.2472+16A>C)
c.2409+16A>C (n.2409+16A>C)
c.2253+16A>C (n.2253+16A>C)
c.2184+16A>C (n.2184+16A>C)
 gnomAD v3 gnomAD v4
6g.33171098dupCA2841509302COL11A2c.3366+16dup (n.3366+16dup)
c.3045+16dup (n.3045+16dup)
c.3108+16dup (n.3108+16dup)
n.273-5282dup
c.2520+16dup (n.2520+16dup)
c.2652+16dup (n.2652+16dup)
c.2472+16dup (n.2472+16dup)
c.2409+16dup (n.2409+16dup)
c.2253+16dup (n.2253+16dup)
c.2184+16dup (n.2184+16dup)
6g.33171099G>ACA3750538COL11A2c.3366+15C>T (n.3366+15C>T)
c.3045+15C>T (n.3045+15C>T)
c.3108+15C>T (n.3108+15C>T)
n.273-5283C>T
c.2520+15C>T (n.2520+15C>T)
c.2652+15C>T (n.2652+15C>T)
c.2472+15C>T (n.2472+15C>T)
c.2409+15C>T (n.2409+15C>T)
c.2253+15C>T (n.2253+15C>T)
c.2184+15C>T (n.2184+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171099G>CCA2841509303COL11A2c.3366+15C>G (n.3366+15C>G)
c.3045+15C>G (n.3045+15C>G)
c.3108+15C>G (n.3108+15C>G)
n.273-5283C>G
c.2520+15C>G (n.2520+15C>G)
c.2652+15C>G (n.2652+15C>G)
c.2472+15C>G (n.2472+15C>G)
c.2409+15C>G (n.2409+15C>G)
c.2253+15C>G (n.2253+15C>G)
c.2184+15C>G (n.2184+15C>G)
6g.33171099G=CA1619896911COL11A2c.3366+15C= (n.3366+15C=)
c.3045+15C= (n.3045+15C=)
c.3108+15C= (n.3108+15C=)
n.273-5283C=
c.2520+15C= (n.2520+15C=)
c.2652+15C= (n.2652+15C=)
c.2472+15C= (n.2472+15C=)
c.2409+15C= (n.2409+15C=)
c.2253+15C= (n.2253+15C=)
c.2184+15C= (n.2184+15C=)
6g.33171100G>ACA566427891COL11A2c.3366+14C>T (n.3366+14C>T)
c.3045+14C>T (n.3045+14C>T)
c.3108+14C>T (n.3108+14C>T)
n.273-5284C>T
c.2520+14C>T (n.2520+14C>T)
c.2652+14C>T (n.2652+14C>T)
c.2472+14C>T (n.2472+14C>T)
c.2409+14C>T (n.2409+14C>T)
c.2253+14C>T (n.2253+14C>T)
c.2184+14C>T (n.2184+14C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33171100G=CA1619896912COL11A2c.3366+14C= (n.3366+14C=)
c.3045+14C= (n.3045+14C=)
c.3108+14C= (n.3108+14C=)
n.273-5284C=
c.2520+14C= (n.2520+14C=)
c.2652+14C= (n.2652+14C=)
c.2472+14C= (n.2472+14C=)
c.2409+14C= (n.2409+14C=)
c.2253+14C= (n.2253+14C=)
c.2184+14C= (n.2184+14C=)
6g.33171100G>TCA2839193866COL11A2c.3366+14C>A (n.3366+14C>A)
c.3045+14C>A (n.3045+14C>A)
c.3108+14C>A (n.3108+14C>A)
n.273-5284C>A
c.2520+14C>A (n.2520+14C>A)
c.2652+14C>A (n.2652+14C>A)
c.2472+14C>A (n.2472+14C>A)
c.2409+14C>A (n.2409+14C>A)
c.2253+14C>A (n.2253+14C>A)
c.2184+14C>A (n.2184+14C>A)
6g.33171101A>TCA2678230725COL11A2c.3366+13T>A (n.3366+13T>A)
c.3045+13T>A (n.3045+13T>A)
c.3108+13T>A (n.3108+13T>A)
n.273-5285T>A
c.2520+13T>A (n.2520+13T>A)
c.2652+13T>A (n.2652+13T>A)
c.2472+13T>A (n.2472+13T>A)
c.2409+13T>A (n.2409+13T>A)
c.2253+13T>A (n.2253+13T>A)
c.2184+13T>A (n.2184+13T>A)
 gnomAD v4
6g.33171102G>ACA2678230726COL11A2c.3366+12C>T (n.3366+12C>T)
c.3045+12C>T (n.3045+12C>T)
c.3108+12C>T (n.3108+12C>T)
n.273-5286C>T
c.2520+12C>T (n.2520+12C>T)
c.2652+12C>T (n.2652+12C>T)
c.2472+12C>T (n.2472+12C>T)
c.2409+12C>T (n.2409+12C>T)
c.2253+12C>T (n.2253+12C>T)
c.2184+12C>T (n.2184+12C>T)
 gnomAD v4
6g.33171102G>TCA2678230728COL11A2c.3366+12C>A (n.3366+12C>A)
c.3045+12C>A (n.3045+12C>A)
c.3108+12C>A (n.3108+12C>A)
n.273-5286C>A
c.2520+12C>A (n.2520+12C>A)
c.2652+12C>A (n.2652+12C>A)
c.2472+12C>A (n.2472+12C>A)
c.2409+12C>A (n.2409+12C>A)
c.2253+12C>A (n.2253+12C>A)
c.2184+12C>A (n.2184+12C>A)
 gnomAD v4
6g.33171103G>ACA566427893COL11A2c.3366+11C>T (n.3366+11C>T)
c.3045+11C>T (n.3045+11C>T)
c.3108+11C>T (n.3108+11C>T)
n.273-5287C>T
c.2520+11C>T (n.2520+11C>T)
c.2652+11C>T (n.2652+11C>T)
c.2472+11C>T (n.2472+11C>T)
c.2409+11C>T (n.2409+11C>T)
c.2253+11C>T (n.2253+11C>T)
c.2184+11C>T (n.2184+11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33171103G=CA1619896913COL11A2c.3366+11C= (n.3366+11C=)
c.3045+11C= (n.3045+11C=)
c.3108+11C= (n.3108+11C=)
n.273-5287C=
c.2520+11C= (n.2520+11C=)
c.2652+11C= (n.2652+11C=)
c.2472+11C= (n.2472+11C=)
c.2409+11C= (n.2409+11C=)
c.2253+11C= (n.2253+11C=)
c.2184+11C= (n.2184+11C=)
6g.33171103G>TCA3750539COL11A2c.3366+11C>A (n.3366+11C>A)
c.3045+11C>A (n.3045+11C>A)
c.3108+11C>A (n.3108+11C>A)
n.273-5287C>A
c.2520+11C>A (n.2520+11C>A)
c.2652+11C>A (n.2652+11C>A)
c.2472+11C>A (n.2472+11C>A)
c.2409+11C>A (n.2409+11C>A)
c.2253+11C>A (n.2253+11C>A)
c.2184+11C>A (n.2184+11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33171104G>TCA2841509304COL11A2c.3366+10C>A (n.3366+10C>A)
c.3045+10C>A (n.3045+10C>A)
c.3108+10C>A (n.3108+10C>A)
n.273-5288C>A
c.2520+10C>A (n.2520+10C>A)
c.2652+10C>A (n.2652+10C>A)
c.2472+10C>A (n.2472+10C>A)
c.2409+10C>A (n.2409+10C>A)
c.2253+10C>A (n.2253+10C>A)
c.2184+10C>A (n.2184+10C>A)
6g.33171105G>ACA2678230738COL11A2c.3366+9C>T (n.3366+9C>T)
c.3045+9C>T (n.3045+9C>T)
c.3108+9C>T (n.3108+9C>T)
n.273-5289C>T
c.2520+9C>T (n.2520+9C>T)
c.2652+9C>T (n.2652+9C>T)
c.2472+9C>T (n.2472+9C>T)
c.2409+9C>T (n.2409+9C>T)
c.2253+9C>T (n.2253+9C>T)
c.2184+9C>T (n.2184+9C>T)
 gnomAD v4
6g.33171105G=CA1619896914COL11A2c.3366+9C= (n.3366+9C=)
c.3045+9C= (n.3045+9C=)
c.3108+9C= (n.3108+9C=)
n.273-5289C=
c.2520+9C= (n.2520+9C=)
c.2652+9C= (n.2652+9C=)
c.2472+9C= (n.2472+9C=)
c.2409+9C= (n.2409+9C=)
c.2253+9C= (n.2253+9C=)
c.2184+9C= (n.2184+9C=)
6g.33171105G>TCA3750540COL11A2c.3366+9C>A (n.3366+9C>A)
c.3045+9C>A (n.3045+9C>A)
c.3108+9C>A (n.3108+9C>A)
n.273-5289C>A
c.2520+9C>A (n.2520+9C>A)
c.2652+9C>A (n.2652+9C>A)
c.2472+9C>A (n.2472+9C>A)
c.2409+9C>A (n.2409+9C>A)
c.2253+9C>A (n.2253+9C>A)
c.2184+9C>A (n.2184+9C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171106T>CCA449876390COL11A2c.3366+8A>G (n.3366+8A>G)
c.3045+8A>G (n.3045+8A>G)
c.3108+8A>G (n.3108+8A>G)
n.273-5290A>G
c.2520+8A>G (n.2520+8A>G)
c.2652+8A>G (n.2652+8A>G)
c.2472+8A>G (n.2472+8A>G)
c.2409+8A>G (n.2409+8A>G)
c.2253+8A>G (n.2253+8A>G)
c.2184+8A>G (n.2184+8A>G)
 gnomAD v4
6g.33171107C>ACA2678230743COL11A2c.3366+7G>T (n.3366+7G>T)
c.3045+7G>T (n.3045+7G>T)
c.3108+7G>T (n.3108+7G>T)
n.273-5291G>T
c.2520+7G>T (n.2520+7G>T)
c.2652+7G>T (n.2652+7G>T)
c.2472+7G>T (n.2472+7G>T)
c.2409+7G>T (n.2409+7G>T)
c.2253+7G>T (n.2253+7G>T)
c.2184+7G>T (n.2184+7G>T)
 gnomAD v4
6g.33171108A>GCA2678230744COL11A2c.3366+6T>C (n.3366+6T>C)
c.3045+6T>C (n.3045+6T>C)
c.3108+6T>C (n.3108+6T>C)
n.273-5292T>C
c.2520+6T>C (n.2520+6T>C)
c.2652+6T>C (n.2652+6T>C)
c.2472+6T>C (n.2472+6T>C)
c.2409+6T>C (n.2409+6T>C)
c.2253+6T>C (n.2253+6T>C)
c.2184+6T>C (n.2184+6T>C)
 gnomAD v4
6g.33171109C>ACA566427894COL11A2c.3366+5G>T (n.3366+5G>T)
c.3045+5G>T (n.3045+5G>T)
c.3108+5G>T (n.3108+5G>T)
n.273-5293G>T
c.2520+5G>T (n.2520+5G>T)
c.2652+5G>T (n.2652+5G>T)
c.2472+5G>T (n.2472+5G>T)
c.2409+5G>T (n.2409+5G>T)
c.2253+5G>T (n.2253+5G>T)
c.2184+5G>T (n.2184+5G>T)
 dbSNP gnomAD v2
6g.33171109C=CA1619896915COL11A2c.3366+5G= (n.3366+5G=)
c.3045+5G= (n.3045+5G=)
c.3108+5G= (n.3108+5G=)
n.273-5293G=
c.2520+5G= (n.2520+5G=)
c.2652+5G= (n.2652+5G=)
c.2472+5G= (n.2472+5G=)
c.2409+5G= (n.2409+5G=)
c.2253+5G= (n.2253+5G=)
c.2184+5G= (n.2184+5G=)
6g.33171111C>ACA566427896COL11A2c.3366+3G>T (n.3366+3G>T)
c.3045+3G>T (n.3045+3G>T)
c.3108+3G>T (n.3108+3G>T)
n.273-5295G>T
c.2520+3G>T (n.2520+3G>T)
c.2652+3G>T (n.2652+3G>T)
c.2472+3G>T (n.2472+3G>T)
c.2409+3G>T (n.2409+3G>T)
c.2253+3G>T (n.2253+3G>T)
c.2184+3G>T (n.2184+3G>T)
 dbSNP gnomAD v2 gnomAD v4
6g.33171111C=CA1619896916COL11A2c.3366+3G= (n.3366+3G=)
c.3045+3G= (n.3045+3G=)
c.3108+3G= (n.3108+3G=)
n.273-5295G=
c.2520+3G= (n.2520+3G=)
c.2652+3G= (n.2652+3G=)
c.2472+3G= (n.2472+3G=)
c.2409+3G= (n.2409+3G=)
c.2253+3G= (n.2253+3G=)
c.2184+3G= (n.2184+3G=)
6g.33171111C>TCA2678230747COL11A2c.3366+3G>A (n.3366+3G>A)
c.3045+3G>A (n.3045+3G>A)
c.3108+3G>A (n.3108+3G>A)
n.273-5295G>A
c.2520+3G>A (n.2520+3G>A)
c.2652+3G>A (n.2652+3G>A)
c.2472+3G>A (n.2472+3G>A)
c.2409+3G>A (n.2409+3G>A)
c.2253+3G>A (n.2253+3G>A)
c.2184+3G>A (n.2184+3G>A)
 gnomAD v4
6g.33171112A>CCA363634157COL11A2c.3366+2T>G (n.3366+2T>G)
c.3045+2T>G (n.3045+2T>G)
c.3108+2T>G (n.3108+2T>G)
n.273-5296T>G
c.2520+2T>G (n.2520+2T>G)
c.2652+2T>G (n.2652+2T>G)
c.2472+2T>G (n.2472+2T>G)
c.2409+2T>G (n.2409+2T>G)
c.2253+2T>G (n.2253+2T>G)
c.2184+2T>G (n.2184+2T>G)
6g.33171112A>GCA363634159COL11A2c.3366+2T>C (n.3366+2T>C)
c.3045+2T>C (n.3045+2T>C)
c.3108+2T>C (n.3108+2T>C)
n.273-5296T>C
c.2520+2T>C (n.2520+2T>C)
c.2652+2T>C (n.2652+2T>C)
c.2472+2T>C (n.2472+2T>C)
c.2409+2T>C (n.2409+2T>C)
c.2253+2T>C (n.2253+2T>C)
c.2184+2T>C (n.2184+2T>C)
6g.33171112A>TCA363634165COL11A2c.3366+2T>A (n.3366+2T>A)
c.3045+2T>A (n.3045+2T>A)
c.3108+2T>A (n.3108+2T>A)
n.273-5296T>A
c.2520+2T>A (n.2520+2T>A)
c.2652+2T>A (n.2652+2T>A)
c.2472+2T>A (n.2472+2T>A)
c.2409+2T>A (n.2409+2T>A)
c.2253+2T>A (n.2253+2T>A)
c.2184+2T>A (n.2184+2T>A)
6g.33171113C>ACA363634169COL11A2c.3366+1G>T (n.3366+1G>T)
c.3045+1G>T (n.3045+1G>T)
c.3108+1G>T (n.3108+1G>T)
n.273-5297G>T
c.2520+1G>T (n.2520+1G>T)
c.2652+1G>T (n.2652+1G>T)
c.2472+1G>T (n.2472+1G>T)
c.2409+1G>T (n.2409+1G>T)
c.2253+1G>T (n.2253+1G>T)
c.2184+1G>T (n.2184+1G>T)
6g.33171113C>GCA363634172COL11A2c.3366+1G>C (n.3366+1G>C)
c.3045+1G>C (n.3045+1G>C)
c.3108+1G>C (n.3108+1G>C)
n.273-5297G>C
c.2520+1G>C (n.2520+1G>C)
c.2652+1G>C (n.2652+1G>C)
c.2472+1G>C (n.2472+1G>C)
c.2409+1G>C (n.2409+1G>C)
c.2253+1G>C (n.2253+1G>C)
c.2184+1G>C (n.2184+1G>C)
6g.33171113C>TCA363634168COL11A2c.3366+1G>A (n.3366+1G>A)
c.3045+1G>A (n.3045+1G>A)
c.3108+1G>A (n.3108+1G>A)
n.273-5297G>A
c.2520+1G>A (n.2520+1G>A)
c.2652+1G>A (n.2652+1G>A)
c.2472+1G>A (n.2472+1G>A)
c.2409+1G>A (n.2409+1G>A)
c.2253+1G>A (n.2253+1G>A)
c.2184+1G>A (n.2184+1G>A)
 ClinVar dbSNP
6g.33171114C>ACA449876401COL11A2c.3366G>T (p.Ala1122=)
c.3045G>T (p.Ala1015=)
c.3108G>T (p.Ala1036=)
n.273-5298G>T
c.2520G>T (p.Ala840=)
c.2652G>T (p.Ala884=)
c.2472G>T (p.Ala824=)
c.2409G>T (p.Ala803=)
c.2253G>T (p.Ala751=)
c.2184G>T (p.Ala728=)
 gnomAD v4
6g.33171114C=CA1619896917COL11A2c.3366G= (p.Ala1122=)
c.3045G= (p.Ala1015=)
c.3108G= (p.Ala1036=)
n.273-5298G=
c.2520G= (p.Ala840=)
c.2652G= (p.Ala884=)
c.2472G= (p.Ala824=)
c.2409G= (p.Ala803=)
c.2253G= (p.Ala751=)
c.2184G= (p.Ala728=)
6g.33171114C>GCA449876403COL11A2c.3366G>C (p.Ala1122=)
c.3045G>C (p.Ala1015=)
c.3108G>C (p.Ala1036=)
n.273-5298G>C
c.2520G>C (p.Ala840=)
c.2652G>C (p.Ala884=)
c.2472G>C (p.Ala824=)
c.2409G>C (p.Ala803=)
c.2253G>C (p.Ala751=)
c.2184G>C (p.Ala728=)
6g.33171114C>TCA3750541COL11A2c.3366G>A (p.Ala1122=)
c.3045G>A (p.Ala1015=)
c.3108G>A (p.Ala1036=)
n.273-5298G>A
c.2520G>A (p.Ala840=)
c.2652G>A (p.Ala884=)
c.2472G>A (p.Ala824=)
c.2409G>A (p.Ala803=)
c.2253G>A (p.Ala751=)
c.2184G>A (p.Ala728=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171115G>ACA3750542COL11A2c.3365C>T (p.Ala1122Val)
c.3044C>T (p.Ala1015Val)
c.3107C>T (p.Ala1036Val)
n.273-5299C>T
c.2519C>T (p.Ala840Val)
c.2651C>T (p.Ala884Val)
c.2471C>T (p.Ala824Val)
c.2408C>T (p.Ala803Val)
c.2252C>T (p.Ala751Val)
c.2183C>T (p.Ala728Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33171115G>CCA363634201COL11A2c.3365C>G (p.Ala1122Gly)
c.3044C>G (p.Ala1015Gly)
c.3107C>G (p.Ala1036Gly)
n.273-5299C>G
c.2519C>G (p.Ala840Gly)
c.2651C>G (p.Ala884Gly)
c.2471C>G (p.Ala824Gly)
c.2408C>G (p.Ala803Gly)
c.2252C>G (p.Ala751Gly)
c.2183C>G (p.Ala728Gly)
 ClinVar dbSNP gnomAD v4
6g.33171115G=CA1619896918COL11A2c.3365C= (p.Ala1122=)
c.3044C= (p.Ala1015=)
c.3107C= (p.Ala1036=)
n.273-5299C=
c.2519C= (p.Ala840=)
c.2651C= (p.Ala884=)
c.2471C= (p.Ala824=)
c.2408C= (p.Ala803=)
c.2252C= (p.Ala751=)
c.2183C= (p.Ala728=)
6g.33171115G>TCA363634210COL11A2c.3365C>A (p.Ala1122Glu)
c.3044C>A (p.Ala1015Glu)
c.3107C>A (p.Ala1036Glu)
n.273-5299C>A
c.2519C>A (p.Ala840Glu)
c.2651C>A (p.Ala884Glu)
c.2471C>A (p.Ala824Glu)
c.2408C>A (p.Ala803Glu)
c.2252C>A (p.Ala751Glu)
c.2183C>A (p.Ala728Glu)
 dbSNP gnomAD v4
6g.33171116C>ACA363634219COL11A2c.3364G>T (p.Ala1122Ser)
c.3043G>T (p.Ala1015Ser)
c.3106G>T (p.Ala1036Ser)
n.273-5300G>T
c.2518G>T (p.Ala840Ser)
c.2650G>T (p.Ala884Ser)
c.2470G>T (p.Ala824Ser)
c.2407G>T (p.Ala803Ser)
c.2251G>T (p.Ala751Ser)
c.2182G>T (p.Ala728Ser)
6g.33171116C>GCA363634231COL11A2c.3364G>C (p.Ala1122Pro)
c.3043G>C (p.Ala1015Pro)
c.3106G>C (p.Ala1036Pro)
n.273-5300G>C
c.2518G>C (p.Ala840Pro)
c.2650G>C (p.Ala884Pro)
c.2470G>C (p.Ala824Pro)
c.2407G>C (p.Ala803Pro)
c.2251G>C (p.Ala751Pro)
c.2182G>C (p.Ala728Pro)
6g.33171116C>TCA363634235COL11A2c.3364G>A (p.Ala1122Thr)
c.3043G>A (p.Ala1015Thr)
c.3106G>A (p.Ala1036Thr)
n.273-5300G>A
c.2518G>A (p.Ala840Thr)
c.2650G>A (p.Ala884Thr)
c.2470G>A (p.Ala824Thr)
c.2407G>A (p.Ala803Thr)
c.2251G>A (p.Ala751Thr)
c.2182G>A (p.Ala728Thr)
6g.33171117T>ACA449876416COL11A2c.3363A>T (p.Ala1121=)
c.3042A>T (p.Ala1014=)
c.3105A>T (p.Ala1035=)
n.273-5301A>T
c.2517A>T (p.Ala839=)
c.2649A>T (p.Ala883=)
c.2469A>T (p.Ala823=)
c.2406A>T (p.Ala802=)
c.2250A>T (p.Ala750=)
c.2181A>T (p.Ala727=)
6g.33171117T>CCA449876417COL11A2c.3363A>G (p.Ala1121=)
c.3042A>G (p.Ala1014=)
c.3105A>G (p.Ala1035=)
n.273-5301A>G
c.2517A>G (p.Ala839=)
c.2649A>G (p.Ala883=)
c.2469A>G (p.Ala823=)
c.2406A>G (p.Ala802=)
c.2250A>G (p.Ala750=)
c.2181A>G (p.Ala727=)
6g.33171117T>GCA449876419COL11A2c.3363A>C (p.Ala1121=)
c.3042A>C (p.Ala1014=)
c.3105A>C (p.Ala1035=)
n.273-5301A>C
c.2517A>C (p.Ala839=)
c.2649A>C (p.Ala883=)
c.2469A>C (p.Ala823=)
c.2406A>C (p.Ala802=)
c.2250A>C (p.Ala750=)
c.2181A>C (p.Ala727=)
6g.33171118G>ACA363634245COL11A2c.3362C>T (p.Ala1121Val)
c.3041C>T (p.Ala1014Val)
c.3104C>T (p.Ala1035Val)
n.273-5302C>T
c.2516C>T (p.Ala839Val)
c.2648C>T (p.Ala883Val)
c.2468C>T (p.Ala823Val)
c.2405C>T (p.Ala802Val)
c.2249C>T (p.Ala750Val)
c.2180C>T (p.Ala727Val)
 gnomAD v4
6g.33171118G>CCA363634262COL11A2c.3362C>G (p.Ala1121Gly)
c.3041C>G (p.Ala1014Gly)
c.3104C>G (p.Ala1035Gly)
n.273-5302C>G
c.2516C>G (p.Ala839Gly)
c.2648C>G (p.Ala883Gly)
c.2468C>G (p.Ala823Gly)
c.2405C>G (p.Ala802Gly)
c.2249C>G (p.Ala750Gly)
c.2180C>G (p.Ala727Gly)
6g.33171118G=CA1619896919COL11A2c.3362C= (p.Ala1121=)
c.3041C= (p.Ala1014=)
c.3104C= (p.Ala1035=)
n.273-5302C=
c.2516C= (p.Ala839=)
c.2648C= (p.Ala883=)
c.2468C= (p.Ala823=)
c.2405C= (p.Ala802=)
c.2249C= (p.Ala750=)
c.2180C= (p.Ala727=)
6g.33171118G>TCA363634268COL11A2c.3362C>A (p.Ala1121Glu)
c.3041C>A (p.Ala1014Glu)
c.3104C>A (p.Ala1035Glu)
n.273-5302C>A
c.2516C>A (p.Ala839Glu)
c.2648C>A (p.Ala883Glu)
c.2468C>A (p.Ala823Glu)
c.2405C>A (p.Ala802Glu)
c.2249C>A (p.Ala750Glu)
c.2180C>A (p.Ala727Glu)
 dbSNP gnomAD v4
6g.33171119C>ACA363634272COL11A2c.3361G>T (p.Ala1121Ser)
c.3040G>T (p.Ala1014Ser)
c.3103G>T (p.Ala1035Ser)
n.273-5303G>T
c.2515G>T (p.Ala839Ser)
c.2647G>T (p.Ala883Ser)
c.2467G>T (p.Ala823Ser)
c.2404G>T (p.Ala802Ser)
c.2248G>T (p.Ala750Ser)
c.2179G>T (p.Ala727Ser)
 gnomAD v4
6g.33171119C>GCA363634279COL11A2c.3361G>C (p.Ala1121Pro)
c.3040G>C (p.Ala1014Pro)
c.3103G>C (p.Ala1035Pro)
n.273-5303G>C
c.2515G>C (p.Ala839Pro)
c.2647G>C (p.Ala883Pro)
c.2467G>C (p.Ala823Pro)
c.2404G>C (p.Ala802Pro)
c.2248G>C (p.Ala750Pro)
c.2179G>C (p.Ala727Pro)
6g.33171119C>TCA363634287COL11A2c.3361G>A (p.Ala1121Thr)
c.3040G>A (p.Ala1014Thr)
c.3103G>A (p.Ala1035Thr)
n.273-5303G>A
c.2515G>A (p.Ala839Thr)
c.2647G>A (p.Ala883Thr)
c.2467G>A (p.Ala823Thr)
c.2404G>A (p.Ala802Thr)
c.2248G>A (p.Ala750Thr)
c.2179G>A (p.Ala727Thr)
6g.33171120T>ACA449876432COL11A2c.3360A>T (p.Gly1120=)
c.3039A>T (p.Gly1013=)
c.3102A>T (p.Gly1034=)
n.273-5304A>T
c.2514A>T (p.Gly838=)
c.2646A>T (p.Gly882=)
c.2466A>T (p.Gly822=)
c.2403A>T (p.Gly801=)
c.2247A>T (p.Gly749=)
c.2178A>T (p.Gly726=)
 gnomAD v4
6g.33171120T>CCA449876434COL11A2c.3360A>G (p.Gly1120=)
c.3039A>G (p.Gly1013=)
c.3102A>G (p.Gly1034=)
n.273-5304A>G
c.2514A>G (p.Gly838=)
c.2646A>G (p.Gly882=)
c.2466A>G (p.Gly822=)
c.2403A>G (p.Gly801=)
c.2247A>G (p.Gly749=)
c.2178A>G (p.Gly726=)
 gnomAD v4
6g.33171120T>GCA449876436COL11A2c.3360A>C (p.Gly1120=)
c.3039A>C (p.Gly1013=)
c.3102A>C (p.Gly1034=)
n.273-5304A>C
c.2514A>C (p.Gly838=)
c.2646A>C (p.Gly882=)
c.2466A>C (p.Gly822=)
c.2403A>C (p.Gly801=)
c.2247A>C (p.Gly749=)
c.2178A>C (p.Gly726=)
6g.33171121C>ACA363634337COL11A2c.3359G>T (p.Gly1120Val)
c.3038G>T (p.Gly1013Val)
c.3101G>T (p.Gly1034Val)
n.273-5305G>T
c.2513G>T (p.Gly838Val)
c.2645G>T (p.Gly882Val)
c.2465G>T (p.Gly822Val)
c.2402G>T (p.Gly801Val)
c.2246G>T (p.Gly749Val)
c.2177G>T (p.Gly726Val)
 gnomAD v4 COSMIC
6g.33171121C=CA1619896920COL11A2c.3359G= (p.Gly1120=)
c.3038G= (p.Gly1013=)
c.3101G= (p.Gly1034=)
n.273-5305G=
c.2513G= (p.Gly838=)
c.2645G= (p.Gly882=)
c.2465G= (p.Gly822=)
c.2402G= (p.Gly801=)
c.2246G= (p.Gly749=)
c.2177G= (p.Gly726=)
6g.33171121C>GCA363634332COL11A2c.3359G>C (p.Gly1120Ala)
c.3038G>C (p.Gly1013Ala)
c.3101G>C (p.Gly1034Ala)
n.273-5305G>C
c.2513G>C (p.Gly838Ala)
c.2645G>C (p.Gly882Ala)
c.2465G>C (p.Gly822Ala)
c.2402G>C (p.Gly801Ala)
c.2246G>C (p.Gly749Ala)
c.2177G>C (p.Gly726Ala)
6g.33171121C>TCA3750543COL11A2c.3359G>A (p.Gly1120Glu)
c.3038G>A (p.Gly1013Glu)
c.3101G>A (p.Gly1034Glu)
n.273-5305G>A
c.2513G>A (p.Gly838Glu)
c.2645G>A (p.Gly882Glu)
c.2465G>A (p.Gly822Glu)
c.2402G>A (p.Gly801Glu)
c.2246G>A (p.Gly749Glu)
c.2177G>A (p.Gly726Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33171122C>ACA363634343COL11A2c.3358G>T (p.Gly1120Ter)
c.3037G>T (p.Gly1013Ter)
c.3100G>T (p.Gly1034Ter)
n.273-5306G>T
c.2512G>T (p.Gly838Ter)
c.2644G>T (p.Gly882Ter)
c.2464G>T (p.Gly822Ter)
c.2401G>T (p.Gly801Ter)
c.2245G>T (p.Gly749Ter)
c.2176G>T (p.Gly726Ter)
 gnomAD v4
6g.33171122C=CA1619896921COL11A2c.3358G= (p.Gly1120=)
c.3037G= (p.Gly1013=)
c.3100G= (p.Gly1034=)
n.273-5306G=
c.2512G= (p.Gly838=)
c.2644G= (p.Gly882=)
c.2464G= (p.Gly822=)
c.2401G= (p.Gly801=)
c.2245G= (p.Gly749=)
c.2176G= (p.Gly726=)
6g.33171122C>GCA363634347COL11A2c.3358G>C (p.Gly1120Arg)
c.3037G>C (p.Gly1013Arg)
c.3100G>C (p.Gly1034Arg)
n.273-5306G>C
c.2512G>C (p.Gly838Arg)
c.2644G>C (p.Gly882Arg)
c.2464G>C (p.Gly822Arg)
c.2401G>C (p.Gly801Arg)
c.2245G>C (p.Gly749Arg)
c.2176G>C (p.Gly726Arg)
6g.33171122C>TCA363634352COL11A2c.3358G>A (p.Gly1120Arg)
c.3037G>A (p.Gly1013Arg)
c.3100G>A (p.Gly1034Arg)
n.273-5306G>A
c.2512G>A (p.Gly838Arg)
c.2644G>A (p.Gly882Arg)
c.2464G>A (p.Gly822Arg)
c.2401G>A (p.Gly801Arg)
c.2245G>A (p.Gly749Arg)
c.2176G>A (p.Gly726Arg)
 dbSNP gnomAD v2
6g.33171123A>CCA449876449COL11A2c.3357T>G (p.Pro1119=)
c.3036T>G (p.Pro1012=)
c.3099T>G (p.Pro1033=)
n.273-5307T>G
c.2511T>G (p.Pro837=)
c.2643T>G (p.Pro881=)
c.2463T>G (p.Pro821=)
c.2400T>G (p.Pro800=)
c.2244T>G (p.Pro748=)
c.2175T>G (p.Pro725=)
6g.33171123A>GCA449876447COL11A2c.3357T>C (p.Pro1119=)
c.3036T>C (p.Pro1012=)
c.3099T>C (p.Pro1033=)
n.273-5307T>C
c.2511T>C (p.Pro837=)
c.2643T>C (p.Pro881=)
c.2463T>C (p.Pro821=)
c.2400T>C (p.Pro800=)
c.2244T>C (p.Pro748=)
c.2175T>C (p.Pro725=)
6g.33171123A>TCA449876445COL11A2c.3357T>A (p.Pro1119=)
c.3036T>A (p.Pro1012=)
c.3099T>A (p.Pro1033=)
n.273-5307T>A
c.2511T>A (p.Pro837=)
c.2643T>A (p.Pro881=)
c.2463T>A (p.Pro821=)
c.2400T>A (p.Pro800=)
c.2244T>A (p.Pro748=)
c.2175T>A (p.Pro725=)
6g.33171124G>ACA363634380COL11A2c.3356C>T (p.Pro1119Leu)
c.3035C>T (p.Pro1012Leu)
c.3098C>T (p.Pro1033Leu)
n.273-5308C>T
c.2510C>T (p.Pro837Leu)
c.2642C>T (p.Pro881Leu)
c.2462C>T (p.Pro821Leu)
c.2399C>T (p.Pro800Leu)
c.2243C>T (p.Pro748Leu)
c.2174C>T (p.Pro725Leu)
6g.33171124G>CCA363634396COL11A2c.3356C>G (p.Pro1119Arg)
c.3035C>G (p.Pro1012Arg)
c.3098C>G (p.Pro1033Arg)
n.273-5308C>G
c.2510C>G (p.Pro837Arg)
c.2642C>G (p.Pro881Arg)
c.2462C>G (p.Pro821Arg)
c.2399C>G (p.Pro800Arg)
c.2243C>G (p.Pro748Arg)
c.2174C>G (p.Pro725Arg)
 gnomAD v4
6g.33171124G>TCA363634400COL11A2c.3356C>A (p.Pro1119His)
c.3035C>A (p.Pro1012His)
c.3098C>A (p.Pro1033His)
n.273-5308C>A
c.2510C>A (p.Pro837His)
c.2642C>A (p.Pro881His)
c.2462C>A (p.Pro821His)
c.2399C>A (p.Pro800His)
c.2243C>A (p.Pro748His)
c.2174C>A (p.Pro725His)
 gnomAD v4
6g.33171125G>ACA363634403COL11A2c.3355C>T (p.Pro1119Ser)
c.3034C>T (p.Pro1012Ser)
c.3097C>T (p.Pro1033Ser)
n.273-5309C>T
c.2509C>T (p.Pro837Ser)
c.2641C>T (p.Pro881Ser)
c.2461C>T (p.Pro821Ser)
c.2398C>T (p.Pro800Ser)
c.2242C>T (p.Pro748Ser)
c.2173C>T (p.Pro725Ser)
6g.33171125G>CCA363634405COL11A2c.3355C>G (p.Pro1119Ala)
c.3034C>G (p.Pro1012Ala)
c.3097C>G (p.Pro1033Ala)
n.273-5309C>G
c.2509C>G (p.Pro837Ala)
c.2641C>G (p.Pro881Ala)
c.2461C>G (p.Pro821Ala)
c.2398C>G (p.Pro800Ala)
c.2242C>G (p.Pro748Ala)
c.2173C>G (p.Pro725Ala)
6g.33171125G>TCA363634406COL11A2c.3355C>A (p.Pro1119Thr)
c.3034C>A (p.Pro1012Thr)
c.3097C>A (p.Pro1033Thr)
n.273-5309C>A
c.2509C>A (p.Pro837Thr)
c.2641C>A (p.Pro881Thr)
c.2461C>A (p.Pro821Thr)
c.2398C>A (p.Pro800Thr)
c.2242C>A (p.Pro748Thr)
c.2173C>A (p.Pro725Thr)
 gnomAD v4
6g.33171126C>ACA363634411COL11A2c.3354G>T (p.Gln1118His)
c.3033G>T (p.Gln1011His)
c.3096G>T (p.Gln1032His)
n.273-5310G>T
c.2508G>T (p.Gln836His)
c.2640G>T (p.Gln880His)
c.2460G>T (p.Gln820His)
c.2397G>T (p.Gln799His)
c.2241G>T (p.Gln747His)
c.2172G>T (p.Gln724His)
6g.33171126C>GCA363634413COL11A2c.3354G>C (p.Gln1118His)
c.3033G>C (p.Gln1011His)
c.3096G>C (p.Gln1032His)
n.273-5310G>C
c.2508G>C (p.Gln836His)
c.2640G>C (p.Gln880His)
c.2460G>C (p.Gln820His)
c.2397G>C (p.Gln799His)
c.2241G>C (p.Gln747His)
c.2172G>C (p.Gln724His)
6g.33171126C>TCA449876464COL11A2c.3354G>A (p.Gln1118=)
c.3033G>A (p.Gln1011=)
c.3096G>A (p.Gln1032=)
n.273-5310G>A
c.2508G>A (p.Gln836=)
c.2640G>A (p.Gln880=)
c.2460G>A (p.Gln820=)
c.2397G>A (p.Gln799=)
c.2241G>A (p.Gln747=)
c.2172G>A (p.Gln724=)
6g.33171127T>ACA363634419COL11A2c.3353A>T (p.Gln1118Leu)
c.3032A>T (p.Gln1011Leu)
c.3095A>T (p.Gln1032Leu)
n.273-5311A>T
c.2507A>T (p.Gln836Leu)
c.2639A>T (p.Gln880Leu)
c.2459A>T (p.Gln820Leu)
c.2396A>T (p.Gln799Leu)
c.2240A>T (p.Gln747Leu)
c.2171A>T (p.Gln724Leu)
6g.33171127T>CCA363634421COL11A2c.3353A>G (p.Gln1118Arg)
c.3032A>G (p.Gln1011Arg)
c.3095A>G (p.Gln1032Arg)
n.273-5311A>G
c.2507A>G (p.Gln836Arg)
c.2639A>G (p.Gln880Arg)
c.2459A>G (p.Gln820Arg)
c.2396A>G (p.Gln799Arg)
c.2240A>G (p.Gln747Arg)
c.2171A>G (p.Gln724Arg)
6g.33171127T>GCA363634423COL11A2c.3353A>C (p.Gln1118Pro)
c.3032A>C (p.Gln1011Pro)
c.3095A>C (p.Gln1032Pro)
n.273-5311A>C
c.2507A>C (p.Gln836Pro)
c.2639A>C (p.Gln880Pro)
c.2459A>C (p.Gln820Pro)
c.2396A>C (p.Gln799Pro)
c.2240A>C (p.Gln747Pro)
c.2171A>C (p.Gln724Pro)
6g.33171128delCA2839935658COL11A2c.3352del (p.Gln1118SerfsTer?)
c.3031del (p.Gln1011SerfsTer?)
c.3094del (p.Gln1032SerfsTer?)
n.273-5312del
c.2506del (p.Gln836SerfsTer?)
c.2638del (p.Gln880SerfsTer?)
c.2458del (p.Gln820SerfsTer?)
c.2395del (p.Gln799SerfsTer?)
c.2239del (p.Gln747SerfsTer?)
c.2170del (p.Gln724SerfsTer?)
6g.33171128G>ACA363634429COL11A2c.3352C>T (p.Gln1118Ter)
c.3031C>T (p.Gln1011Ter)
c.3094C>T (p.Gln1032Ter)
n.273-5312C>T
c.2506C>T (p.Gln836Ter)
c.2638C>T (p.Gln880Ter)
c.2458C>T (p.Gln820Ter)
c.2395C>T (p.Gln799Ter)
c.2239C>T (p.Gln747Ter)
c.2170C>T (p.Gln724Ter)
 gnomAD v4
6g.33171128G>CCA363634431COL11A2c.3352C>G (p.Gln1118Glu)
c.3031C>G (p.Gln1011Glu)
c.3094C>G (p.Gln1032Glu)
n.273-5312C>G
c.2506C>G (p.Gln836Glu)
c.2638C>G (p.Gln880Glu)
c.2458C>G (p.Gln820Glu)
c.2395C>G (p.Gln799Glu)
c.2239C>G (p.Gln747Glu)
c.2170C>G (p.Gln724Glu)
6g.33171128G=CA1619896922COL11A2c.3352C= (p.Gln1118=)
c.3031C= (p.Gln1011=)
c.3094C= (p.Gln1032=)
n.273-5312C=
c.2506C= (p.Gln836=)
c.2638C= (p.Gln880=)
c.2458C= (p.Gln820=)
c.2395C= (p.Gln799=)
c.2239C= (p.Gln747=)
c.2170C= (p.Gln724=)
6g.33171128G>TCA10605498COL11A2c.3352C>A (p.Gln1118Lys)
c.3031C>A (p.Gln1011Lys)
c.3094C>A (p.Gln1032Lys)
n.273-5312C>A
c.2506C>A (p.Gln836Lys)
c.2638C>A (p.Gln880Lys)
c.2458C>A (p.Gln820Lys)
c.2395C>A (p.Gln799Lys)
c.2239C>A (p.Gln747Lys)
c.2170C>A (p.Gln724Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33171129C>ACA449876472COL11A2c.3351G>T (p.Gly1117=)
c.3030G>T (p.Gly1010=)
c.3093G>T (p.Gly1031=)
n.273-5313G>T
c.2505G>T (p.Gly835=)
c.2637G>T (p.Gly879=)
c.2457G>T (p.Gly819=)
c.2394G>T (p.Gly798=)
c.2238G>T (p.Gly746=)
c.2169G>T (p.Gly723=)
6g.33171129C=CA1619896923COL11A2c.3351G= (p.Gly1117=)
c.3030G= (p.Gly1010=)
c.3093G= (p.Gly1031=)
n.273-5313G=
c.2505G= (p.Gly835=)
c.2637G= (p.Gly879=)
c.2457G= (p.Gly819=)
c.2394G= (p.Gly798=)
c.2238G= (p.Gly746=)
c.2169G= (p.Gly723=)
6g.33171129C>GCA449876473COL11A2c.3351G>C (p.Gly1117=)
c.3030G>C (p.Gly1010=)
c.3093G>C (p.Gly1031=)
n.273-5313G>C
c.2505G>C (p.Gly835=)
c.2637G>C (p.Gly879=)
c.2457G>C (p.Gly819=)
c.2394G>C (p.Gly798=)
c.2238G>C (p.Gly746=)
c.2169G>C (p.Gly723=)
6g.33171129C>TCA449876476COL11A2c.3351G>A (p.Gly1117=)
c.3030G>A (p.Gly1010=)
c.3093G>A (p.Gly1031=)
n.273-5313G>A
c.2505G>A (p.Gly835=)
c.2637G>A (p.Gly879=)
c.2457G>A (p.Gly819=)
c.2394G>A (p.Gly798=)
c.2238G>A (p.Gly746=)
c.2169G>A (p.Gly723=)
 dbSNP gnomAD v2 gnomAD v4
6g.33171130C>ACA363634438COL11A2c.3350G>T (p.Gly1117Val)
c.3029G>T (p.Gly1010Val)
c.3092G>T (p.Gly1031Val)
n.273-5314G>T
c.2504G>T (p.Gly835Val)
c.2636G>T (p.Gly879Val)
c.2456G>T (p.Gly819Val)
c.2393G>T (p.Gly798Val)
c.2237G>T (p.Gly746Val)
c.2168G>T (p.Gly723Val)
6g.33171130C>GCA363634436COL11A2c.3350G>C (p.Gly1117Ala)
c.3029G>C (p.Gly1010Ala)
c.3092G>C (p.Gly1031Ala)
n.273-5314G>C
c.2504G>C (p.Gly835Ala)
c.2636G>C (p.Gly879Ala)
c.2456G>C (p.Gly819Ala)
c.2393G>C (p.Gly798Ala)
c.2237G>C (p.Gly746Ala)
c.2168G>C (p.Gly723Ala)
6g.33171130C>TCA363634437COL11A2c.3350G>A (p.Gly1117Glu)
c.3029G>A (p.Gly1010Glu)
c.3092G>A (p.Gly1031Glu)
n.273-5314G>A
c.2504G>A (p.Gly835Glu)
c.2636G>A (p.Gly879Glu)
c.2456G>A (p.Gly819Glu)
c.2393G>A (p.Gly798Glu)
c.2237G>A (p.Gly746Glu)
c.2168G>A (p.Gly723Glu)
6g.33171131C>ACA363634439COL11A2c.3349G>T (p.Gly1117Trp)
c.3028G>T (p.Gly1010Trp)
c.3091G>T (p.Gly1031Trp)
n.273-5315G>T
c.2503G>T (p.Gly835Trp)
c.2635G>T (p.Gly879Trp)
c.2455G>T (p.Gly819Trp)
c.2392G>T (p.Gly798Trp)
c.2236G>T (p.Gly746Trp)
c.2167G>T (p.Gly723Trp)
6g.33171131C>GCA363634442COL11A2c.3349G>C (p.Gly1117Arg)
c.3028G>C (p.Gly1010Arg)
c.3091G>C (p.Gly1031Arg)
n.273-5315G>C
c.2503G>C (p.Gly835Arg)
c.2635G>C (p.Gly879Arg)
c.2455G>C (p.Gly819Arg)
c.2392G>C (p.Gly798Arg)
c.2236G>C (p.Gly746Arg)
c.2167G>C (p.Gly723Arg)
6g.33171131C>TCA363634447COL11A2c.3349G>A (p.Gly1117Arg)
c.3028G>A (p.Gly1010Arg)
c.3091G>A (p.Gly1031Arg)
n.273-5315G>A
c.2503G>A (p.Gly835Arg)
c.2635G>A (p.Gly879Arg)
c.2455G>A (p.Gly819Arg)
c.2392G>A (p.Gly798Arg)
c.2236G>A (p.Gly746Arg)
c.2167G>A (p.Gly723Arg)
6g.33171132C>ACA449876487COL11A2c.3348G>T (p.Val1116=)
c.3027G>T (p.Val1009=)
c.3090G>T (p.Val1030=)
n.273-5316G>T
c.2502G>T (p.Val834=)
c.2634G>T (p.Val878=)
c.2454G>T (p.Val818=)
c.2391G>T (p.Val797=)
c.2235G>T (p.Val745=)
c.2166G>T (p.Val722=)
 gnomAD v4
6g.33171132C=CA1619896924COL11A2c.3348G= (p.Val1116=)
c.3027G= (p.Val1009=)
c.3090G= (p.Val1030=)
n.273-5316G=
c.2502G= (p.Val834=)
c.2634G= (p.Val878=)
c.2454G= (p.Val818=)
c.2391G= (p.Val797=)
c.2235G= (p.Val745=)
c.2166G= (p.Val722=)
6g.33171132C>GCA449876489COL11A2c.3348G>C (p.Val1116=)
c.3027G>C (p.Val1009=)
c.3090G>C (p.Val1030=)
n.273-5316G>C
c.2502G>C (p.Val834=)
c.2634G>C (p.Val878=)
c.2454G>C (p.Val818=)
c.2391G>C (p.Val797=)
c.2235G>C (p.Val745=)
c.2166G>C (p.Val722=)
6g.33171132C>TCA3750544COL11A2c.3348G>A (p.Val1116=)
c.3027G>A (p.Val1009=)
c.3090G>A (p.Val1030=)
n.273-5316G>A
c.2502G>A (p.Val834=)
c.2634G>A (p.Val878=)
c.2454G>A (p.Val818=)
c.2391G>A (p.Val797=)
c.2235G>A (p.Val745=)
c.2166G>A (p.Val722=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33171133A>CCA363634460COL11A2c.3347T>G (p.Val1116Gly)
c.3026T>G (p.Val1009Gly)
c.3089T>G (p.Val1030Gly)
n.273-5317T>G
c.2501T>G (p.Val834Gly)
c.2633T>G (p.Val878Gly)
c.2453T>G (p.Val818Gly)
c.2390T>G (p.Val797Gly)
c.2234T>G (p.Val745Gly)
c.2165T>G (p.Val722Gly)
6g.33171133A>GCA363634456COL11A2c.3347T>C (p.Val1116Ala)
c.3026T>C (p.Val1009Ala)
c.3089T>C (p.Val1030Ala)
n.273-5317T>C
c.2501T>C (p.Val834Ala)
c.2633T>C (p.Val878Ala)
c.2453T>C (p.Val818Ala)
c.2390T>C (p.Val797Ala)
c.2234T>C (p.Val745Ala)
c.2165T>C (p.Val722Ala)
6g.33171133A>TCA363634454COL11A2c.3347T>A (p.Val1116Glu)
c.3026T>A (p.Val1009Glu)
c.3089T>A (p.Val1030Glu)
n.273-5317T>A
c.2501T>A (p.Val834Glu)
c.2633T>A (p.Val878Glu)
c.2453T>A (p.Val818Glu)
c.2390T>A (p.Val797Glu)
c.2234T>A (p.Val745Glu)
c.2165T>A (p.Val722Glu)
6g.33171134C>ACA363634470COL11A2c.3346G>T (p.Val1116Leu)
c.3025G>T (p.Val1009Leu)
c.3088G>T (p.Val1030Leu)
n.273-5318G>T
c.2500G>T (p.Val834Leu)
c.2632G>T (p.Val878Leu)
c.2452G>T (p.Val818Leu)
c.2389G>T (p.Val797Leu)
c.2233G>T (p.Val745Leu)
c.2164G>T (p.Val722Leu)
6g.33171134C=CA1619896925COL11A2c.3346G= (p.Val1116=)
c.3025G= (p.Val1009=)
c.3088G= (p.Val1030=)
n.273-5318G=
c.2500G= (p.Val834=)
c.2632G= (p.Val878=)
c.2452G= (p.Val818=)
c.2389G= (p.Val797=)
c.2233G= (p.Val745=)
c.2164G= (p.Val722=)
6g.33171134C>GCA363634475COL11A2c.3346G>C (p.Val1116Leu)
c.3025G>C (p.Val1009Leu)
c.3088G>C (p.Val1030Leu)
n.273-5318G>C
c.2500G>C (p.Val834Leu)
c.2632G>C (p.Val878Leu)
c.2452G>C (p.Val818Leu)
c.2389G>C (p.Val797Leu)
c.2233G>C (p.Val745Leu)
c.2164G>C (p.Val722Leu)
 gnomAD v4
6g.33171134C>TCA363634476COL11A2c.3346G>A (p.Val1116Met)
c.3025G>A (p.Val1009Met)
c.3088G>A (p.Val1030Met)
n.273-5318G>A
c.2500G>A (p.Val834Met)
c.2632G>A (p.Val878Met)
c.2452G>A (p.Val818Met)
c.2389G>A (p.Val797Met)
c.2233G>A (p.Val745Met)
c.2164G>A (p.Val722Met)
 dbSNP gnomAD v2 gnomAD v4
6g.33171135A=CA1619896926COL11A2c.3345T= (p.Pro1115=)
c.3024T= (p.Pro1008=)
c.3087T= (p.Pro1029=)
n.273-5319T=
c.2499T= (p.Pro833=)
c.2631T= (p.Pro877=)
c.2451T= (p.Pro817=)
c.2388T= (p.Pro796=)
c.2232T= (p.Pro744=)
c.2163T= (p.Pro721=)
6g.33171135A>CCA449876500COL11A2c.3345T>G (p.Pro1115=)
c.3024T>G (p.Pro1008=)
c.3087T>G (p.Pro1029=)
n.273-5319T>G
c.2499T>G (p.Pro833=)
c.2631T>G (p.Pro877=)
c.2451T>G (p.Pro817=)
c.2388T>G (p.Pro796=)
c.2232T>G (p.Pro744=)
c.2163T>G (p.Pro721=)
6g.33171135A>GCA137067041COL11A2c.3345T>C (p.Pro1115=)
c.3024T>C (p.Pro1008=)
c.3087T>C (p.Pro1029=)
n.273-5319T>C
c.2499T>C (p.Pro833=)
c.2631T>C (p.Pro877=)
c.2451T>C (p.Pro817=)
c.2388T>C (p.Pro796=)
c.2232T>C (p.Pro744=)
c.2163T>C (p.Pro721=)
 ClinVar dbSNP
6g.33171135A>TCA449876504COL11A2c.3345T>A (p.Pro1115=)
c.3024T>A (p.Pro1008=)
c.3087T>A (p.Pro1029=)
n.273-5319T>A
c.2499T>A (p.Pro833=)
c.2631T>A (p.Pro877=)
c.2451T>A (p.Pro817=)
c.2388T>A (p.Pro796=)
c.2232T>A (p.Pro744=)
c.2163T>A (p.Pro721=)
 gnomAD v4
6g.33171136G>ACA363634477COL11A2c.3344C>T (p.Pro1115Leu)
c.3023C>T (p.Pro1008Leu)
c.3086C>T (p.Pro1029Leu)
n.273-5320C>T
c.2498C>T (p.Pro833Leu)
c.2630C>T (p.Pro877Leu)
c.2450C>T (p.Pro817Leu)
c.2387C>T (p.Pro796Leu)
c.2231C>T (p.Pro744Leu)
c.2162C>T (p.Pro721Leu)
 gnomAD v4
6g.33171136G>CCA363634480COL11A2c.3344C>G (p.Pro1115Arg)
c.3023C>G (p.Pro1008Arg)
c.3086C>G (p.Pro1029Arg)
n.273-5320C>G
c.2498C>G (p.Pro833Arg)
c.2630C>G (p.Pro877Arg)
c.2450C>G (p.Pro817Arg)
c.2387C>G (p.Pro796Arg)
c.2231C>G (p.Pro744Arg)
c.2162C>G (p.Pro721Arg)
6g.33171136G>TCA363634494COL11A2c.3344C>A (p.Pro1115His)
c.3023C>A (p.Pro1008His)
c.3086C>A (p.Pro1029His)
n.273-5320C>A
c.2498C>A (p.Pro833His)
c.2630C>A (p.Pro877His)
c.2450C>A (p.Pro817His)
c.2387C>A (p.Pro796His)
c.2231C>A (p.Pro744His)
c.2162C>A (p.Pro721His)
6g.33171137G>ACA3750546COL11A2c.3343C>T (p.Pro1115Ser)
c.3022C>T (p.Pro1008Ser)
c.3085C>T (p.Pro1029Ser)
n.273-5321C>T
c.2497C>T (p.Pro833Ser)
c.2629C>T (p.Pro877Ser)
c.2449C>T (p.Pro817Ser)
c.2386C>T (p.Pro796Ser)
c.2230C>T (p.Pro744Ser)
c.2161C>T (p.Pro721Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171137G>CCA363634501COL11A2c.3343C>G (p.Pro1115Ala)
c.3022C>G (p.Pro1008Ala)
c.3085C>G (p.Pro1029Ala)
n.273-5321C>G
c.2497C>G (p.Pro833Ala)
c.2629C>G (p.Pro877Ala)
c.2449C>G (p.Pro817Ala)
c.2386C>G (p.Pro796Ala)
c.2230C>G (p.Pro744Ala)
c.2161C>G (p.Pro721Ala)
6g.33171137G=CA1619896927COL11A2c.3343C= (p.Pro1115=)
c.3022C= (p.Pro1008=)
c.3085C= (p.Pro1029=)
n.273-5321C=
c.2497C= (p.Pro833=)
c.2629C= (p.Pro877=)
c.2449C= (p.Pro817=)
c.2386C= (p.Pro796=)
c.2230C= (p.Pro744=)
c.2161C= (p.Pro721=)
6g.33171137G>TCA3750545COL11A2c.3343C>A (p.Pro1115Thr)
c.3022C>A (p.Pro1008Thr)
c.3085C>A (p.Pro1029Thr)
n.273-5321C>A
c.2497C>A (p.Pro833Thr)
c.2629C>A (p.Pro877Thr)
c.2449C>A (p.Pro817Thr)
c.2386C>A (p.Pro796Thr)
c.2230C>A (p.Pro744Thr)
c.2161C>A (p.Pro721Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171138A>CCA449876512COL11A2c.3342T>G (p.Gly1114=)
c.3021T>G (p.Gly1007=)
c.3084T>G (p.Gly1028=)
n.273-5322T>G
c.2496T>G (p.Gly832=)
c.2628T>G (p.Gly876=)
c.2448T>G (p.Gly816=)
c.2385T>G (p.Gly795=)
c.2229T>G (p.Gly743=)
c.2160T>G (p.Gly720=)
6g.33171138A>GCA449876514COL11A2c.3342T>C (p.Gly1114=)
c.3021T>C (p.Gly1007=)
c.3084T>C (p.Gly1028=)
n.273-5322T>C
c.2496T>C (p.Gly832=)
c.2628T>C (p.Gly876=)
c.2448T>C (p.Gly816=)
c.2385T>C (p.Gly795=)
c.2229T>C (p.Gly743=)
c.2160T>C (p.Gly720=)
6g.33171138A>TCA449876516COL11A2c.3342T>A (p.Gly1114=)
c.3021T>A (p.Gly1007=)
c.3084T>A (p.Gly1028=)
n.273-5322T>A
c.2496T>A (p.Gly832=)
c.2628T>A (p.Gly876=)
c.2448T>A (p.Gly816=)
c.2385T>A (p.Gly795=)
c.2229T>A (p.Gly743=)
c.2160T>A (p.Gly720=)
6g.33171139C>ACA363634513COL11A2c.3341G>T (p.Gly1114Val)
c.3020G>T (p.Gly1007Val)
c.3083G>T (p.Gly1028Val)
n.273-5323G>T
c.2495G>T (p.Gly832Val)
c.2627G>T (p.Gly876Val)
c.2447G>T (p.Gly816Val)
c.2384G>T (p.Gly795Val)
c.2228G>T (p.Gly743Val)
c.2159G>T (p.Gly720Val)
 dbSNP gnomAD v2 gnomAD v4
6g.33171139C=CA1619896928COL11A2c.3341G= (p.Gly1114=)
c.3020G= (p.Gly1007=)
c.3083G= (p.Gly1028=)
n.273-5323G=
c.2495G= (p.Gly832=)
c.2627G= (p.Gly876=)
c.2447G= (p.Gly816=)
c.2384G= (p.Gly795=)
c.2228G= (p.Gly743=)
c.2159G= (p.Gly720=)
6g.33171139C>GCA363634516COL11A2c.3341G>C (p.Gly1114Ala)
c.3020G>C (p.Gly1007Ala)
c.3083G>C (p.Gly1028Ala)
n.273-5323G>C
c.2495G>C (p.Gly832Ala)
c.2627G>C (p.Gly876Ala)
c.2447G>C (p.Gly816Ala)
c.2384G>C (p.Gly795Ala)
c.2228G>C (p.Gly743Ala)
c.2159G>C (p.Gly720Ala)
6g.33171139C>TCA363634519COL11A2c.3341G>A (p.Gly1114Asp)
c.3020G>A (p.Gly1007Asp)
c.3083G>A (p.Gly1028Asp)
n.273-5323G>A
c.2495G>A (p.Gly832Asp)
c.2627G>A (p.Gly876Asp)
c.2447G>A (p.Gly816Asp)
c.2384G>A (p.Gly795Asp)
c.2228G>A (p.Gly743Asp)
c.2159G>A (p.Gly720Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.33171140C>ACA363634532COL11A2c.3340G>T (p.Gly1114Cys)
c.3019G>T (p.Gly1007Cys)
c.3082G>T (p.Gly1028Cys)
n.273-5324G>T
c.2494G>T (p.Gly832Cys)
c.2626G>T (p.Gly876Cys)
c.2446G>T (p.Gly816Cys)
c.2383G>T (p.Gly795Cys)
c.2227G>T (p.Gly743Cys)
c.2158G>T (p.Gly720Cys)
 gnomAD v4
6g.33171140C=CA1619896929COL11A2c.3340G= (p.Gly1114=)
c.3019G= (p.Gly1007=)
c.3082G= (p.Gly1028=)
n.273-5324G=
c.2494G= (p.Gly832=)
c.2626G= (p.Gly876=)
c.2446G= (p.Gly816=)
c.2383G= (p.Gly795=)
c.2227G= (p.Gly743=)
c.2158G= (p.Gly720=)
6g.33171140C>GCA363634534COL11A2c.3340G>C (p.Gly1114Arg)
c.3019G>C (p.Gly1007Arg)
c.3082G>C (p.Gly1028Arg)
n.273-5324G>C
c.2494G>C (p.Gly832Arg)
c.2626G>C (p.Gly876Arg)
c.2446G>C (p.Gly816Arg)
c.2383G>C (p.Gly795Arg)
c.2227G>C (p.Gly743Arg)
c.2158G>C (p.Gly720Arg)
6g.33171140C>TCA363634540COL11A2c.3340G>A (p.Gly1114Ser)
c.3019G>A (p.Gly1007Ser)
c.3082G>A (p.Gly1028Ser)
n.273-5324G>A
c.2494G>A (p.Gly832Ser)
c.2626G>A (p.Gly876Ser)
c.2446G>A (p.Gly816Ser)
c.2383G>A (p.Gly795Ser)
c.2227G>A (p.Gly743Ser)
c.2158G>A (p.Gly720Ser)
 dbSNP gnomAD v2
6g.33171140_33171141insCTGCCA1087641513COL11A2c.3340_3341insCAGG (p.Gly1114AlafsTer30)
c.3019_3020insCAGG (p.Gly1007AlafsTer30)
c.3082_3083insCAGG (p.Gly1028AlafsTer30)
n.273-5324_273-5323insCAGG
c.2494_2495insCAGG (p.Gly832AlafsTer30)
c.2626_2627insCAGG (p.Gly876AlafsTer30)
c.2446_2447insCAGG (p.Gly816AlafsTer30)
c.2383_2384insCAGG (p.Gly795AlafsTer30)
c.2227_2228insCAGG (p.Gly743AlafsTer30)
c.2158_2159insCAGG (p.Gly720AlafsTer30)
 gnomAD v3 gnomAD v4
6g.33171141A>CCA363634549COL11A2c.3339T>G (p.Ile1113Met)
c.3018T>G (p.Ile1006Met)
c.3081T>G (p.Ile1027Met)
n.273-5325T>G
c.2493T>G (p.Ile831Met)
c.2625T>G (p.Ile875Met)
c.2445T>G (p.Ile815Met)
c.2382T>G (p.Ile794Met)
c.2226T>G (p.Ile742Met)
c.2157T>G (p.Ile719Met)
6g.33171141A>GCA449876527COL11A2c.3339T>C (p.Ile1113=)
c.3018T>C (p.Ile1006=)
c.3081T>C (p.Ile1027=)
n.273-5325T>C
c.2493T>C (p.Ile831=)
c.2625T>C (p.Ile875=)
c.2445T>C (p.Ile815=)
c.2382T>C (p.Ile794=)
c.2226T>C (p.Ile742=)
c.2157T>C (p.Ile719=)
6g.33171141A>TCA449876525COL11A2c.3339T>A (p.Ile1113=)
c.3018T>A (p.Ile1006=)
c.3081T>A (p.Ile1027=)
n.273-5325T>A
c.2493T>A (p.Ile831=)
c.2625T>A (p.Ile875=)
c.2445T>A (p.Ile815=)
c.2382T>A (p.Ile794=)
c.2226T>A (p.Ile742=)
c.2157T>A (p.Ile719=)
6g.33171141_33171142insCTCCCA1087641516COL11A2c.3338_3339insGGAG (p.Ile1113MetfsTer31)
c.3017_3018insGGAG (p.Ile1006MetfsTer31)
c.3080_3081insGGAG (p.Ile1027MetfsTer31)
n.273-5326_273-5325insGGAG
c.2492_2493insGGAG (p.Ile831MetfsTer31)
c.2624_2625insGGAG (p.Ile875MetfsTer31)
c.2444_2445insGGAG (p.Ile815MetfsTer31)
c.2381_2382insGGAG (p.Ile794MetfsTer31)
c.2225_2226insGGAG (p.Ile742MetfsTer31)
c.2156_2157insGGAG (p.Ile719MetfsTer31)
 gnomAD v3 gnomAD v4
6g.33171142A=CA1619896930COL11A2c.3338T= (p.Ile1113=)
c.3017T= (p.Ile1006=)
c.3080T= (p.Ile1027=)
n.273-5326T=
c.2492T= (p.Ile831=)
c.2624T= (p.Ile875=)
c.2444T= (p.Ile815=)
c.2381T= (p.Ile794=)
c.2225T= (p.Ile742=)
c.2156T= (p.Ile719=)
6g.33171142A>CCA363634553COL11A2c.3338T>G (p.Ile1113Ser)
c.3017T>G (p.Ile1006Ser)
c.3080T>G (p.Ile1027Ser)
n.273-5326T>G
c.2492T>G (p.Ile831Ser)
c.2624T>G (p.Ile875Ser)
c.2444T>G (p.Ile815Ser)
c.2381T>G (p.Ile794Ser)
c.2225T>G (p.Ile742Ser)
c.2156T>G (p.Ile719Ser)
6g.33171142A>GCA3750547COL11A2c.3338T>C (p.Ile1113Thr)
c.3017T>C (p.Ile1006Thr)
c.3080T>C (p.Ile1027Thr)
n.273-5326T>C
c.2492T>C (p.Ile831Thr)
c.2624T>C (p.Ile875Thr)
c.2444T>C (p.Ile815Thr)
c.2381T>C (p.Ile794Thr)
c.2225T>C (p.Ile742Thr)
c.2156T>C (p.Ile719Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171142A>TCA363634556COL11A2c.3338T>A (p.Ile1113Asn)
c.3017T>A (p.Ile1006Asn)
c.3080T>A (p.Ile1027Asn)
n.273-5326T>A
c.2492T>A (p.Ile831Asn)
c.2624T>A (p.Ile875Asn)
c.2444T>A (p.Ile815Asn)
c.2381T>A (p.Ile794Asn)
c.2225T>A (p.Ile742Asn)
c.2156T>A (p.Ile719Asn)
6g.33171143T>ACA363634561COL11A2c.3337A>T (p.Ile1113Phe)
c.3016A>T (p.Ile1006Phe)
c.3079A>T (p.Ile1027Phe)
n.273-5327A>T
c.2491A>T (p.Ile831Phe)
c.2623A>T (p.Ile875Phe)
c.2443A>T (p.Ile815Phe)
c.2380A>T (p.Ile794Phe)
c.2224A>T (p.Ile742Phe)
c.2155A>T (p.Ile719Phe)
 gnomAD v4
6g.33171143T>CCA363634574COL11A2c.3337A>G (p.Ile1113Val)
c.3016A>G (p.Ile1006Val)
c.3079A>G (p.Ile1027Val)
n.273-5327A>G
c.2491A>G (p.Ile831Val)
c.2623A>G (p.Ile875Val)
c.2443A>G (p.Ile815Val)
c.2380A>G (p.Ile794Val)
c.2224A>G (p.Ile742Val)
c.2155A>G (p.Ile719Val)
6g.33171143T>GCA363634576COL11A2c.3337A>C (p.Ile1113Leu)
c.3016A>C (p.Ile1006Leu)
c.3079A>C (p.Ile1027Leu)
n.273-5327A>C
c.2491A>C (p.Ile831Leu)
c.2623A>C (p.Ile875Leu)
c.2443A>C (p.Ile815Leu)
c.2380A>C (p.Ile794Leu)
c.2224A>C (p.Ile742Leu)
c.2155A>C (p.Ile719Leu)
6g.33171144G>ACA449876539COL11A2c.3336C>T (p.Pro1112=)
c.3015C>T (p.Pro1005=)
c.3078C>T (p.Pro1026=)
n.273-5328C>T
c.2490C>T (p.Pro830=)
c.2622C>T (p.Pro874=)
c.2442C>T (p.Pro814=)
c.2379C>T (p.Pro793=)
c.2223C>T (p.Pro741=)
c.2154C>T (p.Pro718=)
 gnomAD v4
6g.33171144G>CCA449876540COL11A2c.3336C>G (p.Pro1112=)
c.3015C>G (p.Pro1005=)
c.3078C>G (p.Pro1026=)
n.273-5328C>G
c.2490C>G (p.Pro830=)
c.2622C>G (p.Pro874=)
c.2442C>G (p.Pro814=)
c.2379C>G (p.Pro793=)
c.2223C>G (p.Pro741=)
c.2154C>G (p.Pro718=)
6g.33171144G>TCA449876542COL11A2c.3336C>A (p.Pro1112=)
c.3015C>A (p.Pro1005=)
c.3078C>A (p.Pro1026=)
n.273-5328C>A
c.2490C>A (p.Pro830=)
c.2622C>A (p.Pro874=)
c.2442C>A (p.Pro814=)
c.2379C>A (p.Pro793=)
c.2223C>A (p.Pro741=)
c.2154C>A (p.Pro718=)
 gnomAD v4
6g.33171146delCA2838301854COL11A2c.3336del (p.Ile1113LeufsTer?)
c.3015del (p.Ile1006LeufsTer?)
c.3078del (p.Ile1027LeufsTer?)
n.273-5328del
c.2490del (p.Ile831LeufsTer?)
c.2622del (p.Ile875LeufsTer?)
c.2442del (p.Ile815LeufsTer?)
c.2379del (p.Ile794LeufsTer?)
c.2223del (p.Ile742LeufsTer?)
c.2154del (p.Ile719LeufsTer?)
6g.33171145G>ACA3750548COL11A2c.3335C>T (p.Pro1112Leu)
c.3014C>T (p.Pro1005Leu)
c.3077C>T (p.Pro1026Leu)
n.273-5329C>T
c.2489C>T (p.Pro830Leu)
c.2621C>T (p.Pro874Leu)
c.2441C>T (p.Pro814Leu)
c.2378C>T (p.Pro793Leu)
c.2222C>T (p.Pro741Leu)
c.2153C>T (p.Pro718Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33171145G>CCA363634587COL11A2c.3335C>G (p.Pro1112Arg)
c.3014C>G (p.Pro1005Arg)
c.3077C>G (p.Pro1026Arg)
n.273-5329C>G
c.2489C>G (p.Pro830Arg)
c.2621C>G (p.Pro874Arg)
c.2441C>G (p.Pro814Arg)
c.2378C>G (p.Pro793Arg)
c.2222C>G (p.Pro741Arg)
c.2153C>G (p.Pro718Arg)
 gnomAD v4
6g.33171145G=CA1619896931COL11A2c.3335C= (p.Pro1112=)
c.3014C= (p.Pro1005=)
c.3077C= (p.Pro1026=)
n.273-5329C=
c.2489C= (p.Pro830=)
c.2621C= (p.Pro874=)
c.2441C= (p.Pro814=)
c.2378C= (p.Pro793=)
c.2222C= (p.Pro741=)
c.2153C= (p.Pro718=)
6g.33171145G>TCA3750549COL11A2c.3335C>A (p.Pro1112His)
c.3014C>A (p.Pro1005His)
c.3077C>A (p.Pro1026His)
n.273-5329C>A
c.2489C>A (p.Pro830His)
c.2621C>A (p.Pro874His)
c.2441C>A (p.Pro814His)
c.2378C>A (p.Pro793His)
c.2222C>A (p.Pro741His)
c.2153C>A (p.Pro718His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171146G>ACA363634589COL11A2c.3334C>T (p.Pro1112Ser)
c.3013C>T (p.Pro1005Ser)
c.3076C>T (p.Pro1026Ser)
n.273-5330C>T
c.2488C>T (p.Pro830Ser)
c.2620C>T (p.Pro874Ser)
c.2440C>T (p.Pro814Ser)
c.2377C>T (p.Pro793Ser)
c.2221C>T (p.Pro741Ser)
c.2152C>T (p.Pro718Ser)
6g.33171146G>CCA363634590COL11A2c.3334C>G (p.Pro1112Ala)
c.3013C>G (p.Pro1005Ala)
c.3076C>G (p.Pro1026Ala)
n.273-5330C>G
c.2488C>G (p.Pro830Ala)
c.2620C>G (p.Pro874Ala)
c.2440C>G (p.Pro814Ala)
c.2377C>G (p.Pro793Ala)
c.2221C>G (p.Pro741Ala)
c.2152C>G (p.Pro718Ala)
6g.33171146G>TCA363634591COL11A2c.3334C>A (p.Pro1112Thr)
c.3013C>A (p.Pro1005Thr)
c.3076C>A (p.Pro1026Thr)
n.273-5330C>A
c.2488C>A (p.Pro830Thr)
c.2620C>A (p.Pro874Thr)
c.2440C>A (p.Pro814Thr)
c.2377C>A (p.Pro793Thr)
c.2221C>A (p.Pro741Thr)
c.2152C>A (p.Pro718Thr)
6g.33171147T>ACA449876553COL11A2c.3333A>T (p.Gly1111=)
c.3012A>T (p.Gly1004=)
c.3075A>T (p.Gly1025=)
n.273-5331A>T
c.2487A>T (p.Gly829=)
c.2619A>T (p.Gly873=)
c.2439A>T (p.Gly813=)
c.2376A>T (p.Gly792=)
c.2220A>T (p.Gly740=)
c.2151A>T (p.Gly717=)
6g.33171147T>CCA449876558COL11A2c.3333A>G (p.Gly1111=)
c.3012A>G (p.Gly1004=)
c.3075A>G (p.Gly1025=)
n.273-5331A>G
c.2487A>G (p.Gly829=)
c.2619A>G (p.Gly873=)
c.2439A>G (p.Gly813=)
c.2376A>G (p.Gly792=)
c.2220A>G (p.Gly740=)
c.2151A>G (p.Gly717=)
6g.33171147T>GCA449876555COL11A2c.3333A>C (p.Gly1111=)
c.3012A>C (p.Gly1004=)
c.3075A>C (p.Gly1025=)
n.273-5331A>C
c.2487A>C (p.Gly829=)
c.2619A>C (p.Gly873=)
c.2439A>C (p.Gly813=)
c.2376A>C (p.Gly792=)
c.2220A>C (p.Gly740=)
c.2151A>C (p.Gly717=)
6g.33171148C>ACA363634597COL11A2c.3332G>T (p.Gly1111Val)
c.3011G>T (p.Gly1004Val)
c.3074G>T (p.Gly1025Val)
n.273-5332G>T
c.2486G>T (p.Gly829Val)
c.2618G>T (p.Gly873Val)
c.2438G>T (p.Gly813Val)
c.2375G>T (p.Gly792Val)
c.2219G>T (p.Gly740Val)
c.2150G>T (p.Gly717Val)
6g.33171148C>GCA363634603COL11A2c.3332G>C (p.Gly1111Ala)
c.3011G>C (p.Gly1004Ala)
c.3074G>C (p.Gly1025Ala)
n.273-5332G>C
c.2486G>C (p.Gly829Ala)
c.2618G>C (p.Gly873Ala)
c.2438G>C (p.Gly813Ala)
c.2375G>C (p.Gly792Ala)
c.2219G>C (p.Gly740Ala)
c.2150G>C (p.Gly717Ala)
6g.33171148C>TCA363634608COL11A2c.3332G>A (p.Gly1111Glu)
c.3011G>A (p.Gly1004Glu)
c.3074G>A (p.Gly1025Glu)
n.273-5332G>A
c.2486G>A (p.Gly829Glu)
c.2618G>A (p.Gly873Glu)
c.2438G>A (p.Gly813Glu)
c.2375G>A (p.Gly792Glu)
c.2219G>A (p.Gly740Glu)
c.2150G>A (p.Gly717Glu)
6g.33171149C>ACA363634609COL11A2c.3331G>T (p.Gly1111Ter)
c.3010G>T (p.Gly1004Ter)
c.3073G>T (p.Gly1025Ter)
n.273-5333G>T
c.2485G>T (p.Gly829Ter)
c.2617G>T (p.Gly873Ter)
c.2437G>T (p.Gly813Ter)
c.2374G>T (p.Gly792Ter)
c.2218G>T (p.Gly740Ter)
c.2149G>T (p.Gly717Ter)
6g.33171149C=CA1619896932COL11A2c.3331G= (p.Gly1111=)
c.3010G= (p.Gly1004=)
c.3073G= (p.Gly1025=)
n.273-5333G=
c.2485G= (p.Gly829=)
c.2617G= (p.Gly873=)
c.2437G= (p.Gly813=)
c.2374G= (p.Gly792=)
c.2218G= (p.Gly740=)
c.2149G= (p.Gly717=)
6g.33171149C>GCA363634611COL11A2c.3331G>C (p.Gly1111Arg)
c.3010G>C (p.Gly1004Arg)
c.3073G>C (p.Gly1025Arg)
n.273-5333G>C
c.2485G>C (p.Gly829Arg)
c.2617G>C (p.Gly873Arg)
c.2437G>C (p.Gly813Arg)
c.2374G>C (p.Gly792Arg)
c.2218G>C (p.Gly740Arg)
c.2149G>C (p.Gly717Arg)
6g.33171149C>TCA363634614COL11A2c.3331G>A (p.Gly1111Arg)
c.3010G>A (p.Gly1004Arg)
c.3073G>A (p.Gly1025Arg)
n.273-5333G>A
c.2485G>A (p.Gly829Arg)
c.2617G>A (p.Gly873Arg)
c.2437G>A (p.Gly813Arg)
c.2374G>A (p.Gly792Arg)
c.2218G>A (p.Gly740Arg)
c.2149G>A (p.Gly717Arg)
 dbSNP gnomAD v2
6g.33171150A>CCA449876569COL11A2c.3330T>G (p.Pro1110=)
c.3009T>G (p.Pro1003=)
c.3072T>G (p.Pro1024=)
n.273-5334T>G
c.2484T>G (p.Pro828=)
c.2616T>G (p.Pro872=)
c.2436T>G (p.Pro812=)
c.2373T>G (p.Pro791=)
c.2217T>G (p.Pro739=)
c.2148T>G (p.Pro716=)
6g.33171150A>GCA449876572COL11A2c.3330T>C (p.Pro1110=)
c.3009T>C (p.Pro1003=)
c.3072T>C (p.Pro1024=)
n.273-5334T>C
c.2484T>C (p.Pro828=)
c.2616T>C (p.Pro872=)
c.2436T>C (p.Pro812=)
c.2373T>C (p.Pro791=)
c.2217T>C (p.Pro739=)
c.2148T>C (p.Pro716=)
6g.33171150A>TCA449876574COL11A2c.3330T>A (p.Pro1110=)
c.3009T>A (p.Pro1003=)
c.3072T>A (p.Pro1024=)
n.273-5334T>A
c.2484T>A (p.Pro828=)
c.2616T>A (p.Pro872=)
c.2436T>A (p.Pro812=)
c.2373T>A (p.Pro791=)
c.2217T>A (p.Pro739=)
c.2148T>A (p.Pro716=)
6g.33171151G>ACA363634620COL11A2c.3329C>T (p.Pro1110Leu)
c.3008C>T (p.Pro1003Leu)
c.3071C>T (p.Pro1024Leu)
n.273-5335C>T
c.2483C>T (p.Pro828Leu)
c.2615C>T (p.Pro872Leu)
c.2435C>T (p.Pro812Leu)
c.2372C>T (p.Pro791Leu)
c.2216C>T (p.Pro739Leu)
c.2147C>T (p.Pro716Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33171151G>CCA3750550COL11A2c.3329C>G (p.Pro1110Arg)
c.3008C>G (p.Pro1003Arg)
c.3071C>G (p.Pro1024Arg)
n.273-5335C>G
c.2483C>G (p.Pro828Arg)
c.2615C>G (p.Pro872Arg)
c.2435C>G (p.Pro812Arg)
c.2372C>G (p.Pro791Arg)
c.2216C>G (p.Pro739Arg)
c.2147C>G (p.Pro716Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171151G=CA1619896933COL11A2c.3329C= (p.Pro1110=)
c.3008C= (p.Pro1003=)
c.3071C= (p.Pro1024=)
n.273-5335C=
c.2483C= (p.Pro828=)
c.2615C= (p.Pro872=)
c.2435C= (p.Pro812=)
c.2372C= (p.Pro791=)
c.2216C= (p.Pro739=)
c.2147C= (p.Pro716=)
6g.33171151G>TCA363634624COL11A2c.3329C>A (p.Pro1110His)
c.3008C>A (p.Pro1003His)
c.3071C>A (p.Pro1024His)
n.273-5335C>A
c.2483C>A (p.Pro828His)
c.2615C>A (p.Pro872His)
c.2435C>A (p.Pro812His)
c.2372C>A (p.Pro791His)
c.2216C>A (p.Pro739His)
c.2147C>A (p.Pro716His)
6g.33171155dupCA2697553229COL11A2c.3329dup (p.Gly1111TrpfsTer?)
c.3008dup (p.Gly1004TrpfsTer?)
c.3071dup (p.Gly1025TrpfsTer?)
n.273-5335dup
c.2483dup (p.Gly829TrpfsTer?)
c.2615dup (p.Gly873TrpfsTer?)
c.2435dup (p.Gly813TrpfsTer?)
c.2372dup (p.Gly792TrpfsTer?)
c.2216dup (p.Gly740TrpfsTer?)
c.2147dup (p.Gly717TrpfsTer?)
 ClinVar
6g.33171155delCA658655575COL11A2c.3329del (p.Pro1110LeufsTer?)
c.3008del (p.Pro1003LeufsTer?)
c.3071del (p.Pro1024LeufsTer?)
n.273-5335del
c.2483del (p.Pro828LeufsTer?)
c.2615del (p.Pro872LeufsTer?)
c.2435del (p.Pro812LeufsTer?)
c.2372del (p.Pro791LeufsTer?)
c.2216del (p.Pro739LeufsTer?)
c.2147del (p.Pro716LeufsTer?)
6g.33171151_33171152insTCA2839193856COL11A2c.3328_3329insA (p.Pro1110HisfsTer?)
c.3007_3008insA (p.Pro1003HisfsTer?)
c.3070_3071insA (p.Pro1024HisfsTer?)
n.273-5336_273-5335insA
c.2482_2483insA (p.Pro828HisfsTer?)
c.2614_2615insA (p.Pro872HisfsTer?)
c.2434_2435insA (p.Pro812HisfsTer?)
c.2371_2372insA (p.Pro791HisfsTer?)
c.2215_2216insA (p.Pro739HisfsTer?)
c.2146_2147insA (p.Pro716HisfsTer?)
6g.33171152G>ACA3750551COL11A2c.3328C>T (p.Pro1110Ser)
c.3007C>T (p.Pro1003Ser)
c.3070C>T (p.Pro1024Ser)
n.273-5336C>T
c.2482C>T (p.Pro828Ser)
c.2614C>T (p.Pro872Ser)
c.2434C>T (p.Pro812Ser)
c.2371C>T (p.Pro791Ser)
c.2215C>T (p.Pro739Ser)
c.2146C>T (p.Pro716Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171152G>CCA363634641COL11A2c.3328C>G (p.Pro1110Ala)
c.3007C>G (p.Pro1003Ala)
c.3070C>G (p.Pro1024Ala)
n.273-5336C>G
c.2482C>G (p.Pro828Ala)
c.2614C>G (p.Pro872Ala)
c.2434C>G (p.Pro812Ala)
c.2371C>G (p.Pro791Ala)
c.2215C>G (p.Pro739Ala)
c.2146C>G (p.Pro716Ala)
6g.33171152G=CA1619896934COL11A2c.3328C= (p.Pro1110=)
c.3007C= (p.Pro1003=)
c.3070C= (p.Pro1024=)
n.273-5336C=
c.2482C= (p.Pro828=)
c.2614C= (p.Pro872=)
c.2434C= (p.Pro812=)
c.2371C= (p.Pro791=)
c.2215C= (p.Pro739=)
c.2146C= (p.Pro716=)
6g.33171152G>TCA363634626COL11A2c.3328C>A (p.Pro1110Thr)
c.3007C>A (p.Pro1003Thr)
c.3070C>A (p.Pro1024Thr)
n.273-5336C>A
c.2482C>A (p.Pro828Thr)
c.2614C>A (p.Pro872Thr)
c.2434C>A (p.Pro812Thr)
c.2371C>A (p.Pro791Thr)
c.2215C>A (p.Pro739Thr)
c.2146C>A (p.Pro716Thr)
6g.33171153G>ACA449876586COL11A2c.3327C>T (p.Pro1109=)
c.3006C>T (p.Pro1002=)
c.3069C>T (p.Pro1023=)
n.273-5337C>T
c.2481C>T (p.Pro827=)
c.2613C>T (p.Pro871=)
c.2433C>T (p.Pro811=)
c.2370C>T (p.Pro790=)
c.2214C>T (p.Pro738=)
c.2145C>T (p.Pro715=)
 gnomAD v4
6g.33171153G>CCA3750552COL11A2c.3327C>G (p.Pro1109=)
c.3006C>G (p.Pro1002=)
c.3069C>G (p.Pro1023=)
n.273-5337C>G
c.2481C>G (p.Pro827=)
c.2613C>G (p.Pro871=)
c.2433C>G (p.Pro811=)
c.2370C>G (p.Pro790=)
c.2214C>G (p.Pro738=)
c.2145C>G (p.Pro715=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171153G=CA1619896935COL11A2c.3327C= (p.Pro1109=)
c.3006C= (p.Pro1002=)
c.3069C= (p.Pro1023=)
n.273-5337C=
c.2481C= (p.Pro827=)
c.2613C= (p.Pro871=)
c.2433C= (p.Pro811=)
c.2370C= (p.Pro790=)
c.2214C= (p.Pro738=)
c.2145C= (p.Pro715=)
6g.33171153G>TCA449876589COL11A2c.3327C>A (p.Pro1109=)
c.3006C>A (p.Pro1002=)
c.3069C>A (p.Pro1023=)
n.273-5337C>A
c.2481C>A (p.Pro827=)
c.2613C>A (p.Pro871=)
c.2433C>A (p.Pro811=)
c.2370C>A (p.Pro790=)
c.2214C>A (p.Pro738=)
c.2145C>A (p.Pro715=)
 gnomAD v4
6g.33171154G>ACA363634650COL11A2c.3326C>T (p.Pro1109Leu)
c.3005C>T (p.Pro1002Leu)
c.3068C>T (p.Pro1023Leu)
n.273-5338C>T
c.2480C>T (p.Pro827Leu)
c.2612C>T (p.Pro871Leu)
c.2432C>T (p.Pro811Leu)
c.2369C>T (p.Pro790Leu)
c.2213C>T (p.Pro738Leu)
c.2144C>T (p.Pro715Leu)
6g.33171154G>CCA363634651COL11A2c.3326C>G (p.Pro1109Arg)
c.3005C>G (p.Pro1002Arg)
c.3068C>G (p.Pro1023Arg)
n.273-5338C>G
c.2480C>G (p.Pro827Arg)
c.2612C>G (p.Pro871Arg)
c.2432C>G (p.Pro811Arg)
c.2369C>G (p.Pro790Arg)
c.2213C>G (p.Pro738Arg)
c.2144C>G (p.Pro715Arg)
 gnomAD v4
6g.33171154G=CA1619896936COL11A2c.3326C= (p.Pro1109=)
c.3005C= (p.Pro1002=)
c.3068C= (p.Pro1023=)
n.273-5338C=
c.2480C= (p.Pro827=)
c.2612C= (p.Pro871=)
c.2432C= (p.Pro811=)
c.2369C= (p.Pro790=)
c.2213C= (p.Pro738=)
c.2144C= (p.Pro715=)
6g.33171154G>TCA3750553COL11A2c.3326C>A (p.Pro1109His)
c.3005C>A (p.Pro1002His)
c.3068C>A (p.Pro1023His)
n.273-5338C>A
c.2480C>A (p.Pro827His)
c.2612C>A (p.Pro871His)
c.2432C>A (p.Pro811His)
c.2369C>A (p.Pro790His)
c.2213C>A (p.Pro738His)
c.2144C>A (p.Pro715His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171155G>ACA3750555COL11A2c.3325C>T (p.Pro1109Ser)
c.3004C>T (p.Pro1002Ser)
c.3067C>T (p.Pro1023Ser)
n.273-5339C>T
c.2479C>T (p.Pro827Ser)
c.2611C>T (p.Pro871Ser)
c.2431C>T (p.Pro811Ser)
c.2368C>T (p.Pro790Ser)
c.2212C>T (p.Pro738Ser)
c.2143C>T (p.Pro715Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171155G>CCA3750554COL11A2c.3325C>G (p.Pro1109Ala)
c.3004C>G (p.Pro1002Ala)
c.3067C>G (p.Pro1023Ala)
n.273-5339C>G
c.2479C>G (p.Pro827Ala)
c.2611C>G (p.Pro871Ala)
c.2431C>G (p.Pro811Ala)
c.2368C>G (p.Pro790Ala)
c.2212C>G (p.Pro738Ala)
c.2143C>G (p.Pro715Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171155G=CA1619896937COL11A2c.3325C= (p.Pro1109=)
c.3004C= (p.Pro1002=)
c.3067C= (p.Pro1023=)
n.273-5339C=
c.2479C= (p.Pro827=)
c.2611C= (p.Pro871=)
c.2431C= (p.Pro811=)
c.2368C= (p.Pro790=)
c.2212C= (p.Pro738=)
c.2143C= (p.Pro715=)
6g.33171155G>TCA363634657COL11A2c.3325C>A (p.Pro1109Thr)
c.3004C>A (p.Pro1002Thr)
c.3067C>A (p.Pro1023Thr)
n.273-5339C>A
c.2479C>A (p.Pro827Thr)
c.2611C>A (p.Pro871Thr)
c.2431C>A (p.Pro811Thr)
c.2368C>A (p.Pro790Thr)
c.2212C>A (p.Pro738Thr)
c.2143C>A (p.Pro715Thr)
6g.33171156T>ACA449876603COL11A2c.3324A>T (p.Gly1108=)
c.3003A>T (p.Gly1001=)
c.3066A>T (p.Gly1022=)
n.273-5340A>T
c.2478A>T (p.Gly826=)
c.2610A>T (p.Gly870=)
c.2430A>T (p.Gly810=)
c.2367A>T (p.Gly789=)
c.2211A>T (p.Gly737=)
c.2142A>T (p.Gly714=)
6g.33171156T>CCA449876601COL11A2c.3324A>G (p.Gly1108=)
c.3003A>G (p.Gly1001=)
c.3066A>G (p.Gly1022=)
n.273-5340A>G
c.2478A>G (p.Gly826=)
c.2610A>G (p.Gly870=)
c.2430A>G (p.Gly810=)
c.2367A>G (p.Gly789=)
c.2211A>G (p.Gly737=)
c.2142A>G (p.Gly714=)
 ClinVar dbSNP gnomAD v2
6g.33171156T>GCA449876600COL11A2c.3324A>C (p.Gly1108=)
c.3003A>C (p.Gly1001=)
c.3066A>C (p.Gly1022=)
n.273-5340A>C
c.2478A>C (p.Gly826=)
c.2610A>C (p.Gly870=)
c.2430A>C (p.Gly810=)
c.2367A>C (p.Gly789=)
c.2211A>C (p.Gly737=)
c.2142A>C (p.Gly714=)
6g.33171156T=CA1619896938COL11A2c.3324A= (p.Gly1108=)
c.3003A= (p.Gly1001=)
c.3066A= (p.Gly1022=)
n.273-5340A=
c.2478A= (p.Gly826=)
c.2610A= (p.Gly870=)
c.2430A= (p.Gly810=)
c.2367A= (p.Gly789=)
c.2211A= (p.Gly737=)
c.2142A= (p.Gly714=)
6g.33171157C>ACA363634662COL11A2c.3323G>T (p.Gly1108Val)
c.3002G>T (p.Gly1001Val)
c.3065G>T (p.Gly1022Val)
n.273-5341G>T
c.2477G>T (p.Gly826Val)
c.2609G>T (p.Gly870Val)
c.2429G>T (p.Gly810Val)
c.2366G>T (p.Gly789Val)
c.2210G>T (p.Gly737Val)
c.2141G>T (p.Gly714Val)
6g.33171157C>GCA363634664COL11A2c.3323G>C (p.Gly1108Ala)
c.3002G>C (p.Gly1001Ala)
c.3065G>C (p.Gly1022Ala)
n.273-5341G>C
c.2477G>C (p.Gly826Ala)
c.2609G>C (p.Gly870Ala)
c.2429G>C (p.Gly810Ala)
c.2366G>C (p.Gly789Ala)
c.2210G>C (p.Gly737Ala)
c.2141G>C (p.Gly714Ala)
6g.33171157C>TCA363634666COL11A2c.3323G>A (p.Gly1108Glu)
c.3002G>A (p.Gly1001Glu)
c.3065G>A (p.Gly1022Glu)
n.273-5341G>A
c.2477G>A (p.Gly826Glu)
c.2609G>A (p.Gly870Glu)
c.2429G>A (p.Gly810Glu)
c.2366G>A (p.Gly789Glu)
c.2210G>A (p.Gly737Glu)
c.2141G>A (p.Gly714Glu)
6g.33171158C>ACA363634671COL11A2c.3322G>T (p.Gly1108Ter)
c.3001G>T (p.Gly1001Ter)
c.3064G>T (p.Gly1022Ter)
n.273-5342G>T
c.2476G>T (p.Gly826Ter)
c.2608G>T (p.Gly870Ter)
c.2428G>T (p.Gly810Ter)
c.2365G>T (p.Gly789Ter)
c.2209G>T (p.Gly737Ter)
c.2140G>T (p.Gly714Ter)
6g.33171158C>GCA363634673COL11A2c.3322G>C (p.Gly1108Arg)
c.3001G>C (p.Gly1001Arg)
c.3064G>C (p.Gly1022Arg)
n.273-5342G>C
c.2476G>C (p.Gly826Arg)
c.2608G>C (p.Gly870Arg)
c.2428G>C (p.Gly810Arg)
c.2365G>C (p.Gly789Arg)
c.2209G>C (p.Gly737Arg)
c.2140G>C (p.Gly714Arg)
6g.33171158C>TCA363634678COL11A2c.3322G>A (p.Gly1108Arg)
c.3001G>A (p.Gly1001Arg)
c.3064G>A (p.Gly1022Arg)
n.273-5342G>A
c.2476G>A (p.Gly826Arg)
c.2608G>A (p.Gly870Arg)
c.2428G>A (p.Gly810Arg)
c.2365G>A (p.Gly789Arg)
c.2209G>A (p.Gly737Arg)
c.2140G>A (p.Gly714Arg)
6g.33171159A>CCA449876612COL11A2c.3321T>G (p.Pro1107=)
c.3000T>G (p.Pro1000=)
c.3063T>G (p.Pro1021=)
n.273-5343T>G
c.2475T>G (p.Pro825=)
c.2607T>G (p.Pro869=)
c.2427T>G (p.Pro809=)
c.2364T>G (p.Pro788=)
c.2208T>G (p.Pro736=)
c.2139T>G (p.Pro713=)
6g.33171159A>GCA449876614COL11A2c.3321T>C (p.Pro1107=)
c.3000T>C (p.Pro1000=)
c.3063T>C (p.Pro1021=)
n.273-5343T>C
c.2475T>C (p.Pro825=)
c.2607T>C (p.Pro869=)
c.2427T>C (p.Pro809=)
c.2364T>C (p.Pro788=)
c.2208T>C (p.Pro736=)
c.2139T>C (p.Pro713=)
6g.33171159A>TCA449876617COL11A2c.3321T>A (p.Pro1107=)
c.3000T>A (p.Pro1000=)
c.3063T>A (p.Pro1021=)
n.273-5343T>A
c.2475T>A (p.Pro825=)
c.2607T>A (p.Pro869=)
c.2427T>A (p.Pro809=)
c.2364T>A (p.Pro788=)
c.2208T>A (p.Pro736=)
c.2139T>A (p.Pro713=)
6g.33171160G>ACA363634687COL11A2c.3320C>T (p.Pro1107Leu)
c.2999C>T (p.Pro1000Leu)
c.3062C>T (p.Pro1021Leu)
n.273-5344C>T
c.2474C>T (p.Pro825Leu)
c.2606C>T (p.Pro869Leu)
c.2426C>T (p.Pro809Leu)
c.2363C>T (p.Pro788Leu)
c.2207C>T (p.Pro736Leu)
c.2138C>T (p.Pro713Leu)
6g.33171160G>CCA363634716COL11A2c.3320C>G (p.Pro1107Arg)
c.2999C>G (p.Pro1000Arg)
c.3062C>G (p.Pro1021Arg)
n.273-5344C>G
c.2474C>G (p.Pro825Arg)
c.2606C>G (p.Pro869Arg)
c.2426C>G (p.Pro809Arg)
c.2363C>G (p.Pro788Arg)
c.2207C>G (p.Pro736Arg)
c.2138C>G (p.Pro713Arg)
6g.33171160G>TCA363634714COL11A2c.3320C>A (p.Pro1107His)
c.2999C>A (p.Pro1000His)
c.3062C>A (p.Pro1021His)
n.273-5344C>A
c.2474C>A (p.Pro825His)
c.2606C>A (p.Pro869His)
c.2426C>A (p.Pro809His)
c.2363C>A (p.Pro788His)
c.2207C>A (p.Pro736His)
c.2138C>A (p.Pro713His)
6g.33171161delCA2678230883COL11A2c.3320del (p.Pro1107LeufsTer?)
c.2999del (p.Pro1000LeufsTer?)
c.3062del (p.Pro1021LeufsTer?)
n.273-5344del
c.2474del (p.Pro825LeufsTer?)
c.2606del (p.Pro869LeufsTer?)
c.2426del (p.Pro809LeufsTer?)
c.2363del (p.Pro788LeufsTer?)
c.2207del (p.Pro736LeufsTer?)
c.2138del (p.Pro713LeufsTer?)
 gnomAD v4
6g.33171161G>ACA363634719COL11A2c.3319C>T (p.Pro1107Ser)
c.2998C>T (p.Pro1000Ser)
c.3061C>T (p.Pro1021Ser)
n.273-5345C>T
c.2473C>T (p.Pro825Ser)
c.2605C>T (p.Pro869Ser)
c.2425C>T (p.Pro809Ser)
c.2362C>T (p.Pro788Ser)
c.2206C>T (p.Pro736Ser)
c.2137C>T (p.Pro713Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.33171161G>CCA363634724COL11A2c.3319C>G (p.Pro1107Ala)
c.2998C>G (p.Pro1000Ala)
c.3061C>G (p.Pro1021Ala)
n.273-5345C>G
c.2473C>G (p.Pro825Ala)
c.2605C>G (p.Pro869Ala)
c.2425C>G (p.Pro809Ala)
c.2362C>G (p.Pro788Ala)
c.2206C>G (p.Pro736Ala)
c.2137C>G (p.Pro713Ala)
6g.33171161G=CA1619896939COL11A2c.3319C= (p.Pro1107=)
c.2998C= (p.Pro1000=)
c.3061C= (p.Pro1021=)
n.273-5345C=
c.2473C= (p.Pro825=)
c.2605C= (p.Pro869=)
c.2425C= (p.Pro809=)
c.2362C= (p.Pro788=)
c.2206C= (p.Pro736=)
c.2137C= (p.Pro713=)
6g.33171161G>TCA363634720COL11A2c.3319C>A (p.Pro1107Thr)
c.2998C>A (p.Pro1000Thr)
c.3061C>A (p.Pro1021Thr)
n.273-5345C>A
c.2473C>A (p.Pro825Thr)
c.2605C>A (p.Pro869Thr)
c.2425C>A (p.Pro809Thr)
c.2362C>A (p.Pro788Thr)
c.2206C>A (p.Pro736Thr)
c.2137C>A (p.Pro713Thr)
6g.33171162A=CA1619896940COL11A2c.3318T= (p.Pro1106=)
c.2997T= (p.Pro999=)
c.3060T= (p.Pro1020=)
n.273-5346T=
c.2472T= (p.Pro824=)
c.2604T= (p.Pro868=)
c.2424T= (p.Pro808=)
c.2361T= (p.Pro787=)
c.2205T= (p.Pro735=)
c.2136T= (p.Pro712=)
6g.33171162A>CCA449876627COL11A2c.3318T>G (p.Pro1106=)
c.2997T>G (p.Pro999=)
c.3060T>G (p.Pro1020=)
n.273-5346T>G
c.2472T>G (p.Pro824=)
c.2604T>G (p.Pro868=)
c.2424T>G (p.Pro808=)
c.2361T>G (p.Pro787=)
c.2205T>G (p.Pro735=)
c.2136T>G (p.Pro712=)
 gnomAD v4
6g.33171162A>GCA449876629COL11A2c.3318T>C (p.Pro1106=)
c.2997T>C (p.Pro999=)
c.3060T>C (p.Pro1020=)
n.273-5346T>C
c.2472T>C (p.Pro824=)
c.2604T>C (p.Pro868=)
c.2424T>C (p.Pro808=)
c.2361T>C (p.Pro787=)
c.2205T>C (p.Pro735=)
c.2136T>C (p.Pro712=)
 dbSNP gnomAD v2
6g.33171162A>TCA449876631COL11A2c.3318T>A (p.Pro1106=)
c.2997T>A (p.Pro999=)
c.3060T>A (p.Pro1020=)
n.273-5346T>A
c.2472T>A (p.Pro824=)
c.2604T>A (p.Pro868=)
c.2424T>A (p.Pro808=)
c.2361T>A (p.Pro787=)
c.2205T>A (p.Pro735=)
c.2136T>A (p.Pro712=)
6g.33171163G>ACA363634733COL11A2c.3317C>T (p.Pro1106Leu)
c.2996C>T (p.Pro999Leu)
c.3059C>T (p.Pro1020Leu)
n.273-5347C>T
c.2471C>T (p.Pro824Leu)
c.2603C>T (p.Pro868Leu)
c.2423C>T (p.Pro808Leu)
c.2360C>T (p.Pro787Leu)
c.2204C>T (p.Pro735Leu)
c.2135C>T (p.Pro712Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.33171163G>CCA363634738COL11A2c.3317C>G (p.Pro1106Arg)
c.2996C>G (p.Pro999Arg)
c.3059C>G (p.Pro1020Arg)
n.273-5347C>G
c.2471C>G (p.Pro824Arg)
c.2603C>G (p.Pro868Arg)
c.2423C>G (p.Pro808Arg)
c.2360C>G (p.Pro787Arg)
c.2204C>G (p.Pro735Arg)
c.2135C>G (p.Pro712Arg)
 dbSNP gnomAD v2
6g.33171163G=CA1619896941COL11A2c.3317C= (p.Pro1106=)
c.2996C= (p.Pro999=)
c.3059C= (p.Pro1020=)
n.273-5347C=
c.2471C= (p.Pro824=)
c.2603C= (p.Pro868=)
c.2423C= (p.Pro808=)
c.2360C= (p.Pro787=)
c.2204C= (p.Pro735=)
c.2135C= (p.Pro712=)
6g.33171163G>TCA363634752COL11A2c.3317C>A (p.Pro1106His)
c.2996C>A (p.Pro999His)
c.3059C>A (p.Pro1020His)
n.273-5347C>A
c.2471C>A (p.Pro824His)
c.2603C>A (p.Pro868His)
c.2423C>A (p.Pro808His)
c.2360C>A (p.Pro787His)
c.2204C>A (p.Pro735His)
c.2135C>A (p.Pro712His)
6g.33171165dupCA2841509305COL11A2c.3317dup (p.Pro1107SerfsTer?)
c.2996dup (p.Pro1000SerfsTer?)
c.3059dup (p.Pro1021SerfsTer?)
n.273-5347dup
c.2471dup (p.Pro825SerfsTer?)
c.2603dup (p.Pro869SerfsTer?)
c.2423dup (p.Pro809SerfsTer?)
c.2360dup (p.Pro788SerfsTer?)
c.2204dup (p.Pro736SerfsTer?)
c.2135dup (p.Pro713SerfsTer?)
6g.33171164G>ACA3750556COL11A2c.3316C>T (p.Pro1106Ser)
c.2995C>T (p.Pro999Ser)
c.3058C>T (p.Pro1020Ser)
n.273-5348C>T
c.2470C>T (p.Pro824Ser)
c.2602C>T (p.Pro868Ser)
c.2422C>T (p.Pro808Ser)
c.2359C>T (p.Pro787Ser)
c.2203C>T (p.Pro735Ser)
c.2134C>T (p.Pro712Ser)
 ClinVar dbSNP ExAC gnomAD v2
6g.33171164G>CCA363634789COL11A2c.3316C>G (p.Pro1106Ala)
c.2995C>G (p.Pro999Ala)
c.3058C>G (p.Pro1020Ala)
n.273-5348C>G
c.2470C>G (p.Pro824Ala)
c.2602C>G (p.Pro868Ala)
c.2422C>G (p.Pro808Ala)
c.2359C>G (p.Pro787Ala)
c.2203C>G (p.Pro735Ala)
c.2134C>G (p.Pro712Ala)
 gnomAD v4
6g.33171164G=CA1619896942COL11A2c.3316C= (p.Pro1106=)
c.2995C= (p.Pro999=)
c.3058C= (p.Pro1020=)
n.273-5348C=
c.2470C= (p.Pro824=)
c.2602C= (p.Pro868=)
c.2422C= (p.Pro808=)
c.2359C= (p.Pro787=)
c.2203C= (p.Pro735=)
c.2134C= (p.Pro712=)
6g.33171164G>TCA363634797COL11A2c.3316C>A (p.Pro1106Thr)
c.2995C>A (p.Pro999Thr)
c.3058C>A (p.Pro1020Thr)
n.273-5348C>A
c.2470C>A (p.Pro824Thr)
c.2602C>A (p.Pro868Thr)
c.2422C>A (p.Pro808Thr)
c.2359C>A (p.Pro787Thr)
c.2203C>A (p.Pro735Thr)
c.2134C>A (p.Pro712Thr)

Number of alleles fetched