Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47994440C>ACA384522425COL2A1c.593G>T (p.Gly198Val)
c.800G>T (p.Gly267Val)
c.944G>T (p.Gly315Val)
c.941G>T (p.Gly314Val)
c.734G>T (p.Gly245Val)
c.254G>T (p.Gly85Val)
12g.47994440C=CA2034478093COL2A1c.593G= (p.Gly198=)
c.800G= (p.Gly267=)
c.944G= (p.Gly315=)
c.941G= (p.Gly314=)
c.734G= (p.Gly245=)
c.254G= (p.Gly85=)
12g.47994440C>GCA384522426COL2A1c.593G>C (p.Gly198Ala)
c.800G>C (p.Gly267Ala)
c.944G>C (p.Gly315Ala)
c.941G>C (p.Gly314Ala)
c.734G>C (p.Gly245Ala)
c.254G>C (p.Gly85Ala)
12g.47994440C>TCA127156COL2A1c.593G>A (p.Gly198Asp)
c.800G>A (p.Gly267Asp)
c.944G>A (p.Gly315Asp)
c.941G>A (p.Gly314Asp)
c.734G>A (p.Gly245Asp)
c.254G>A (p.Gly85Asp)
 ClinVar dbSNP
12g.47994441C>ACA384522427COL2A1c.592G>T (p.Gly198Cys)
c.799G>T (p.Gly267Cys)
c.943G>T (p.Gly315Cys)
c.940G>T (p.Gly314Cys)
c.733G>T (p.Gly245Cys)
c.253G>T (p.Gly85Cys)
12g.47994441C>GCA384522428COL2A1c.592G>C (p.Gly198Arg)
c.799G>C (p.Gly267Arg)
c.943G>C (p.Gly315Arg)
c.940G>C (p.Gly314Arg)
c.733G>C (p.Gly245Arg)
c.253G>C (p.Gly85Arg)
12g.47994441C>TCA384522429COL2A1c.592G>A (p.Gly198Ser)
c.799G>A (p.Gly267Ser)
c.943G>A (p.Gly315Ser)
c.940G>A (p.Gly314Ser)
c.733G>A (p.Gly245Ser)
c.253G>A (p.Gly85Ser)
12g.47994442C>ACA384522430COL2A1c.591G>T (p.Arg197Ser)
c.798G>T (p.Arg266Ser)
c.942G>T (p.Arg314Ser)
c.939G>T (p.Arg313Ser)
c.732G>T (p.Arg244Ser)
c.252G>T (p.Arg84Ser)
12g.47994442C=CA2034478096COL2A1c.591G= (p.Arg197=)
c.798G= (p.Arg266=)
c.942G= (p.Arg314=)
c.939G= (p.Arg313=)
c.732G= (p.Arg244=)
c.252G= (p.Arg84=)
12g.47994442C>GCA384522431COL2A1c.591G>C (p.Arg197Ser)
c.798G>C (p.Arg266Ser)
c.942G>C (p.Arg314Ser)
c.939G>C (p.Arg313Ser)
c.732G>C (p.Arg244Ser)
c.252G>C (p.Arg84Ser)
12g.47994442C>TCA6535781COL2A1c.591G>A (p.Arg197=)
c.798G>A (p.Arg266=)
c.942G>A (p.Arg314=)
c.939G>A (p.Arg313=)
c.732G>A (p.Arg244=)
c.252G>A (p.Arg84=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994443C>ACA384522432COL2A1c.590G>T (p.Arg197Met)
c.797G>T (p.Arg266Met)
c.941G>T (p.Arg314Met)
c.938G>T (p.Arg313Met)
c.731G>T (p.Arg244Met)
c.251G>T (p.Arg84Met)
12g.47994443C=CA2034478099COL2A1c.590G= (p.Arg197=)
c.797G= (p.Arg266=)
c.941G= (p.Arg314=)
c.938G= (p.Arg313=)
c.731G= (p.Arg244=)
c.251G= (p.Arg84=)
12g.47994443C>GCA384522433COL2A1c.590G>C (p.Arg197Thr)
c.797G>C (p.Arg266Thr)
c.941G>C (p.Arg314Thr)
c.938G>C (p.Arg313Thr)
c.731G>C (p.Arg244Thr)
c.251G>C (p.Arg84Thr)
12g.47994443C>TCA384522434COL2A1c.590G>A (p.Arg197Lys)
c.797G>A (p.Arg266Lys)
c.941G>A (p.Arg314Lys)
c.938G>A (p.Arg313Lys)
c.731G>A (p.Arg244Lys)
c.251G>A (p.Arg84Lys)
 dbSNP gnomAD v4
12g.47994444T>ACA384522435COL2A1c.589A>T (p.Arg197Trp)
c.796A>T (p.Arg266Trp)
c.940A>T (p.Arg314Trp)
c.937A>T (p.Arg313Trp)
c.730A>T (p.Arg244Trp)
c.250A>T (p.Arg84Trp)
12g.47994444T>CCA384522436COL2A1c.589A>G (p.Arg197Gly)
c.796A>G (p.Arg266Gly)
c.940A>G (p.Arg314Gly)
c.937A>G (p.Arg313Gly)
c.730A>G (p.Arg244Gly)
c.250A>G (p.Arg84Gly)
 ClinVar
12g.47994444T>GCA479441738COL2A1c.589A>C (p.Arg197=)
c.796A>C (p.Arg266=)
c.940A>C (p.Arg314=)
c.937A>C (p.Arg313=)
c.730A>C (p.Arg244=)
c.250A>C (p.Arg84=)
12g.47994445T>ACA384522437COL2A1c.588A>T (p.Glu196Asp)
c.795A>T (p.Glu265Asp)
c.939A>T (p.Glu313Asp)
c.936A>T (p.Glu312Asp)
c.729A>T (p.Glu243Asp)
c.249A>T (p.Glu83Asp)
12g.47994445T>CCA6535782COL2A1c.588A>G (p.Glu196=)
c.795A>G (p.Glu265=)
c.939A>G (p.Glu313=)
c.936A>G (p.Glu312=)
c.729A>G (p.Glu243=)
c.249A>G (p.Glu83=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47994445T>GCA384522438COL2A1c.588A>C (p.Glu196Asp)
c.795A>C (p.Glu265Asp)
c.939A>C (p.Glu313Asp)
c.936A>C (p.Glu312Asp)
c.729A>C (p.Glu243Asp)
c.249A>C (p.Glu83Asp)
12g.47994445T=CA2034478102COL2A1c.588A= (p.Glu196=)
c.795A= (p.Glu265=)
c.939A= (p.Glu313=)
c.936A= (p.Glu312=)
c.729A= (p.Glu243=)
c.249A= (p.Glu83=)
12g.47994446T>ACA384522439COL2A1c.587A>T (p.Glu196Val)
c.794A>T (p.Glu265Val)
c.938A>T (p.Glu313Val)
c.935A>T (p.Glu312Val)
c.728A>T (p.Glu243Val)
c.248A>T (p.Glu83Val)
12g.47994446T>CCA384522440COL2A1c.587A>G (p.Glu196Gly)
c.794A>G (p.Glu265Gly)
c.938A>G (p.Glu313Gly)
c.935A>G (p.Glu312Gly)
c.728A>G (p.Glu243Gly)
c.248A>G (p.Glu83Gly)
12g.47994446T>GCA384522441COL2A1c.587A>C (p.Glu196Ala)
c.794A>C (p.Glu265Ala)
c.938A>C (p.Glu313Ala)
c.935A>C (p.Glu312Ala)
c.728A>C (p.Glu243Ala)
c.248A>C (p.Glu83Ala)
12g.47994447delCA2695216318COL2A1c.586del (p.Glu196LysfsTer?)
c.793del (p.Glu265LysfsTer?)
c.937del (p.Glu313LysfsTer?)
c.934del (p.Glu312LysfsTer?)
c.727del (p.Glu243LysfsTer?)
c.247del (p.Glu83LysfsTer?)
12g.47994447C>ACA384522442COL2A1c.586G>T (p.Glu196Ter)
c.793G>T (p.Glu265Ter)
c.937G>T (p.Glu313Ter)
c.934G>T (p.Glu312Ter)
c.727G>T (p.Glu243Ter)
c.247G>T (p.Glu83Ter)
12g.47994447C>GCA384522444COL2A1c.586G>C (p.Glu196Gln)
c.793G>C (p.Glu265Gln)
c.937G>C (p.Glu313Gln)
c.934G>C (p.Glu312Gln)
c.727G>C (p.Glu243Gln)
c.247G>C (p.Glu83Gln)
12g.47994447C>TCA384522443COL2A1c.586G>A (p.Glu196Lys)
c.793G>A (p.Glu265Lys)
c.937G>A (p.Glu313Lys)
c.934G>A (p.Glu312Lys)
c.727G>A (p.Glu243Lys)
c.247G>A (p.Glu83Lys)
 COSMIC COSMIC
12g.47994448A>CCA479441739COL2A1c.585T>G (p.Gly195=)
c.792T>G (p.Gly264=)
c.936T>G (p.Gly312=)
c.933T>G (p.Gly311=)
c.726T>G (p.Gly242=)
c.246T>G (p.Gly82=)
 gnomAD v4
12g.47994448A>GCA479441740COL2A1c.585T>C (p.Gly195=)
c.792T>C (p.Gly264=)
c.936T>C (p.Gly312=)
c.933T>C (p.Gly311=)
c.726T>C (p.Gly242=)
c.246T>C (p.Gly82=)
 gnomAD v4
12g.47994448A>TCA479441741COL2A1c.585T>A (p.Gly195=)
c.792T>A (p.Gly264=)
c.936T>A (p.Gly312=)
c.933T>A (p.Gly311=)
c.726T>A (p.Gly242=)
c.246T>A (p.Gly82=)
12g.47994449C>ACA384522445COL2A1c.584G>T (p.Gly195Val)
c.791G>T (p.Gly264Val)
c.935G>T (p.Gly312Val)
c.932G>T (p.Gly311Val)
c.725G>T (p.Gly242Val)
c.245G>T (p.Gly82Val)
12g.47994449C>GCA384522447COL2A1c.584G>C (p.Gly195Ala)
c.791G>C (p.Gly264Ala)
c.935G>C (p.Gly312Ala)
c.932G>C (p.Gly311Ala)
c.725G>C (p.Gly242Ala)
c.245G>C (p.Gly82Ala)
12g.47994449C>TCA384522446COL2A1c.584G>A (p.Gly195Asp)
c.791G>A (p.Gly264Asp)
c.935G>A (p.Gly312Asp)
c.932G>A (p.Gly311Asp)
c.725G>A (p.Gly242Asp)
c.245G>A (p.Gly82Asp)
12g.47994449_47994450delinsAACA645580291COL2A1c.583_584delinsTT (p.Gly195Phe)
c.790_791delinsTT (p.Gly264Phe)
c.934_935delinsTT (p.Gly312Phe)
c.931_932delinsTT (p.Gly311Phe)
c.724_725delinsTT (p.Gly242Phe)
c.244_245delinsTT (p.Gly82Phe)
 COSMIC COSMIC
12g.47994456_47994473delCA2573106166COL2A1c.567_584del (p.Lys190_Gly195del)
c.774_791del (p.Lys259_Gly264del)
c.918_935del (p.Lys307_Gly312del)
c.915_932del (p.Lys306_Gly311del)
c.708_725del (p.Lys237_Gly242del)
c.228_245del (p.Lys77_Gly82del)
12g.47994450C>ACA384522448COL2A1c.583G>T (p.Gly195Cys)
c.790G>T (p.Gly264Cys)
c.934G>T (p.Gly312Cys)
c.931G>T (p.Gly311Cys)
c.724G>T (p.Gly242Cys)
c.244G>T (p.Gly82Cys)
12g.47994450C>GCA384522450COL2A1c.583G>C (p.Gly195Arg)
c.790G>C (p.Gly264Arg)
c.934G>C (p.Gly312Arg)
c.931G>C (p.Gly311Arg)
c.724G>C (p.Gly242Arg)
c.244G>C (p.Gly82Arg)
12g.47994450C>TCA384522449COL2A1c.583G>A (p.Gly195Ser)
c.790G>A (p.Gly264Ser)
c.934G>A (p.Gly312Ser)
c.931G>A (p.Gly311Ser)
c.724G>A (p.Gly242Ser)
c.244G>A (p.Gly82Ser)
12g.47994451A>CCA479441742COL2A1c.582T>G (p.Ala194=)
c.789T>G (p.Ala263=)
c.933T>G (p.Ala311=)
c.930T>G (p.Ala310=)
c.723T>G (p.Ala241=)
c.243T>G (p.Ala81=)
12g.47994451A>GCA479441743COL2A1c.582T>C (p.Ala194=)
c.789T>C (p.Ala263=)
c.933T>C (p.Ala311=)
c.930T>C (p.Ala310=)
c.723T>C (p.Ala241=)
c.243T>C (p.Ala81=)
12g.47994451A>TCA479441744COL2A1c.582T>A (p.Ala194=)
c.789T>A (p.Ala263=)
c.933T>A (p.Ala311=)
c.930T>A (p.Ala310=)
c.723T>A (p.Ala241=)
c.243T>A (p.Ala81=)
12g.47994452G>ACA384522451COL2A1c.581C>T (p.Ala194Val)
c.788C>T (p.Ala263Val)
c.932C>T (p.Ala311Val)
c.929C>T (p.Ala310Val)
c.722C>T (p.Ala241Val)
c.242C>T (p.Ala81Val)
 COSMIC COSMIC
12g.47994452G>CCA384522453COL2A1c.581C>G (p.Ala194Gly)
c.788C>G (p.Ala263Gly)
c.932C>G (p.Ala311Gly)
c.929C>G (p.Ala310Gly)
c.722C>G (p.Ala241Gly)
c.242C>G (p.Ala81Gly)
12g.47994452G>TCA384522452COL2A1c.581C>A (p.Ala194Asp)
c.788C>A (p.Ala263Asp)
c.932C>A (p.Ala311Asp)
c.929C>A (p.Ala310Asp)
c.722C>A (p.Ala241Asp)
c.242C>A (p.Ala81Asp)
 COSMIC COSMIC
12g.47994453C>ACA384522454COL2A1c.580G>T (p.Ala194Ser)
c.787G>T (p.Ala263Ser)
c.931G>T (p.Ala311Ser)
c.928G>T (p.Ala310Ser)
c.721G>T (p.Ala241Ser)
c.241G>T (p.Ala81Ser)
12g.47994453C=CA2034478107COL2A1c.580G= (p.Ala194=)
c.787G= (p.Ala263=)
c.931G= (p.Ala311=)
c.928G= (p.Ala310=)
c.721G= (p.Ala241=)
c.241G= (p.Ala81=)
12g.47994453C>GCA384522456COL2A1c.580G>C (p.Ala194Pro)
c.787G>C (p.Ala263Pro)
c.931G>C (p.Ala311Pro)
c.928G>C (p.Ala310Pro)
c.721G>C (p.Ala241Pro)
c.241G>C (p.Ala81Pro)
12g.47994453C>TCA384522455COL2A1c.580G>A (p.Ala194Thr)
c.787G>A (p.Ala263Thr)
c.931G>A (p.Ala311Thr)
c.928G>A (p.Ala310Thr)
c.721G>A (p.Ala241Thr)
c.241G>A (p.Ala81Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47994454T>ACA384522457COL2A1c.579A>T (p.Lys193Asn)
c.786A>T (p.Lys262Asn)
c.930A>T (p.Lys310Asn)
c.927A>T (p.Lys309Asn)
c.720A>T (p.Lys240Asn)
c.240A>T (p.Lys80Asn)
12g.47994454T>CCA479441745COL2A1c.579A>G (p.Lys193=)
c.786A>G (p.Lys262=)
c.930A>G (p.Lys310=)
c.927A>G (p.Lys309=)
c.720A>G (p.Lys240=)
c.240A>G (p.Lys80=)
12g.47994454T>GCA384522458COL2A1c.579A>C (p.Lys193Asn)
c.786A>C (p.Lys262Asn)
c.930A>C (p.Lys310Asn)
c.927A>C (p.Lys309Asn)
c.720A>C (p.Lys240Asn)
c.240A>C (p.Lys80Asn)
 dbSNP
12g.47994454T=CA2034478109COL2A1c.579A= (p.Lys193=)
c.786A= (p.Lys262=)
c.930A= (p.Lys310=)
c.927A= (p.Lys309=)
c.720A= (p.Lys240=)
c.240A= (p.Lys80=)
12g.47994455T>ACA384522459COL2A1c.578A>T (p.Lys193Ile)
c.785A>T (p.Lys262Ile)
c.929A>T (p.Lys310Ile)
c.926A>T (p.Lys309Ile)
c.719A>T (p.Lys240Ile)
c.239A>T (p.Lys80Ile)
12g.47994455T>CCA6535783COL2A1c.578A>G (p.Lys193Arg)
c.785A>G (p.Lys262Arg)
c.929A>G (p.Lys310Arg)
c.926A>G (p.Lys309Arg)
c.719A>G (p.Lys240Arg)
c.239A>G (p.Lys80Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47994455T>GCA384522460COL2A1c.578A>C (p.Lys193Thr)
c.785A>C (p.Lys262Thr)
c.929A>C (p.Lys310Thr)
c.926A>C (p.Lys309Thr)
c.719A>C (p.Lys240Thr)
c.239A>C (p.Lys80Thr)
12g.47994455T=CA2034478112COL2A1c.578A= (p.Lys193=)
c.785A= (p.Lys262=)
c.929A= (p.Lys310=)
c.926A= (p.Lys309=)
c.719A= (p.Lys240=)
c.239A= (p.Lys80=)
12g.47994456T>ACA384522461COL2A1c.577A>T (p.Lys193Ter)
c.784A>T (p.Lys262Ter)
c.928A>T (p.Lys310Ter)
c.925A>T (p.Lys309Ter)
c.718A>T (p.Lys240Ter)
c.238A>T (p.Lys80Ter)
12g.47994456T>CCA384522463COL2A1c.577A>G (p.Lys193Glu)
c.784A>G (p.Lys262Glu)
c.928A>G (p.Lys310Glu)
c.925A>G (p.Lys309Glu)
c.718A>G (p.Lys240Glu)
c.238A>G (p.Lys80Glu)
12g.47994456T>GCA384522462COL2A1c.577A>C (p.Lys193Gln)
c.784A>C (p.Lys262Gln)
c.928A>C (p.Lys310Gln)
c.925A>C (p.Lys309Gln)
c.718A>C (p.Lys240Gln)
c.238A>C (p.Lys80Gln)
12g.47994457T>ACA479441746COL2A1c.576A>T (p.Gly192=)
c.783A>T (p.Gly261=)
c.927A>T (p.Gly309=)
c.924A>T (p.Gly308=)
c.717A>T (p.Gly239=)
c.237A>T (p.Gly79=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47994457T>CCA479441747COL2A1c.576A>G (p.Gly192=)
c.783A>G (p.Gly261=)
c.927A>G (p.Gly309=)
c.924A>G (p.Gly308=)
c.717A>G (p.Gly239=)
c.237A>G (p.Gly79=)
12g.47994457T>GCA479441748COL2A1c.576A>C (p.Gly192=)
c.783A>C (p.Gly261=)
c.927A>C (p.Gly309=)
c.924A>C (p.Gly308=)
c.717A>C (p.Gly239=)
c.237A>C (p.Gly79=)
12g.47994457T=CA2034478118COL2A1c.576A= (p.Gly192=)
c.783A= (p.Gly261=)
c.927A= (p.Gly309=)
c.924A= (p.Gly308=)
c.717A= (p.Gly239=)
c.237A= (p.Gly79=)
12g.47994458C>ACA384522464COL2A1c.575G>T (p.Gly192Val)
c.782G>T (p.Gly261Val)
c.926G>T (p.Gly309Val)
c.923G>T (p.Gly308Val)
c.716G>T (p.Gly239Val)
c.236G>T (p.Gly79Val)
12g.47994458C>GCA384522466COL2A1c.575G>C (p.Gly192Ala)
c.782G>C (p.Gly261Ala)
c.926G>C (p.Gly309Ala)
c.923G>C (p.Gly308Ala)
c.716G>C (p.Gly239Ala)
c.236G>C (p.Gly79Ala)
12g.47994458C>TCA384522465COL2A1c.575G>A (p.Gly192Glu)
c.782G>A (p.Gly261Glu)
c.926G>A (p.Gly309Glu)
c.923G>A (p.Gly308Glu)
c.716G>A (p.Gly239Glu)
c.236G>A (p.Gly79Glu)
 dbSNP gnomAD v4 COSMIC COSMIC
12g.47994459C>ACA384522467COL2A1c.574G>T (p.Gly192Ter)
c.781G>T (p.Gly261Ter)
c.925G>T (p.Gly309Ter)
c.922G>T (p.Gly308Ter)
c.715G>T (p.Gly239Ter)
c.235G>T (p.Gly79Ter)
 ClinVar dbSNP
12g.47994459C>GCA384522469COL2A1c.574G>C (p.Gly192Arg)
c.781G>C (p.Gly261Arg)
c.925G>C (p.Gly309Arg)
c.922G>C (p.Gly308Arg)
c.715G>C (p.Gly239Arg)
c.235G>C (p.Gly79Arg)
12g.47994459C>TCA384522468COL2A1c.574G>A (p.Gly192Arg)
c.781G>A (p.Gly261Arg)
c.925G>A (p.Gly309Arg)
c.922G>A (p.Gly308Arg)
c.715G>A (p.Gly239Arg)
c.235G>A (p.Gly79Arg)
12g.47994460A>CCA479441749COL2A1c.573T>G (p.Pro191=)
c.780T>G (p.Pro260=)
c.924T>G (p.Pro308=)
c.921T>G (p.Pro307=)
c.714T>G (p.Pro238=)
c.234T>G (p.Pro78=)
12g.47994460A>GCA479441750COL2A1c.573T>C (p.Pro191=)
c.780T>C (p.Pro260=)
c.924T>C (p.Pro308=)
c.921T>C (p.Pro307=)
c.714T>C (p.Pro238=)
c.234T>C (p.Pro78=)
 COSMIC COSMIC
12g.47994460A>TCA479441751COL2A1c.573T>A (p.Pro191=)
c.780T>A (p.Pro260=)
c.924T>A (p.Pro308=)
c.921T>A (p.Pro307=)
c.714T>A (p.Pro238=)
c.234T>A (p.Pro78=)
12g.47994461G>ACA384522470COL2A1c.572C>T (p.Pro191Leu)
c.779C>T (p.Pro260Leu)
c.923C>T (p.Pro308Leu)
c.920C>T (p.Pro307Leu)
c.713C>T (p.Pro238Leu)
c.233C>T (p.Pro78Leu)
12g.47994461G>CCA384522471COL2A1c.572C>G (p.Pro191Arg)
c.779C>G (p.Pro260Arg)
c.923C>G (p.Pro308Arg)
c.920C>G (p.Pro307Arg)
c.713C>G (p.Pro238Arg)
c.233C>G (p.Pro78Arg)
12g.47994461G>TCA384522472COL2A1c.572C>A (p.Pro191His)
c.779C>A (p.Pro260His)
c.923C>A (p.Pro308His)
c.920C>A (p.Pro307His)
c.713C>A (p.Pro238His)
c.233C>A (p.Pro78His)
12g.47994462G>ACA384522473COL2A1c.571C>T (p.Pro191Ser)
c.778C>T (p.Pro260Ser)
c.922C>T (p.Pro308Ser)
c.919C>T (p.Pro307Ser)
c.712C>T (p.Pro238Ser)
c.232C>T (p.Pro78Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47994462G>CCA384522474COL2A1c.571C>G (p.Pro191Ala)
c.778C>G (p.Pro260Ala)
c.922C>G (p.Pro308Ala)
c.919C>G (p.Pro307Ala)
c.712C>G (p.Pro238Ala)
c.232C>G (p.Pro78Ala)
12g.47994462G=CA2034478123COL2A1c.571C= (p.Pro191=)
c.778C= (p.Pro260=)
c.922C= (p.Pro308=)
c.919C= (p.Pro307=)
c.712C= (p.Pro238=)
c.232C= (p.Pro78=)
12g.47994462G>TCA384522475COL2A1c.571C>A (p.Pro191Thr)
c.778C>A (p.Pro260Thr)
c.922C>A (p.Pro308Thr)
c.919C>A (p.Pro307Thr)
c.712C>A (p.Pro238Thr)
c.232C>A (p.Pro78Thr)
12g.47994463T>ACA384522476COL2A1c.570A>T (p.Lys190Asn)
c.777A>T (p.Lys259Asn)
c.921A>T (p.Lys307Asn)
c.918A>T (p.Lys306Asn)
c.711A>T (p.Lys237Asn)
c.231A>T (p.Lys77Asn)
12g.47994463T>CCA479441752COL2A1c.570A>G (p.Lys190=)
c.777A>G (p.Lys259=)
c.921A>G (p.Lys307=)
c.918A>G (p.Lys306=)
c.711A>G (p.Lys237=)
c.231A>G (p.Lys77=)
 dbSNP
12g.47994463T>GCA384522477COL2A1c.570A>C (p.Lys190Asn)
c.777A>C (p.Lys259Asn)
c.921A>C (p.Lys307Asn)
c.918A>C (p.Lys306Asn)
c.711A>C (p.Lys237Asn)
c.231A>C (p.Lys77Asn)
12g.47994463T=CA2034478128COL2A1c.570A= (p.Lys190=)
c.777A= (p.Lys259=)
c.921A= (p.Lys307=)
c.918A= (p.Lys306=)
c.711A= (p.Lys237=)
c.231A= (p.Lys77=)
12g.47994464T>ACA384522478COL2A1c.569A>T (p.Lys190Ile)
c.776A>T (p.Lys259Ile)
c.920A>T (p.Lys307Ile)
c.917A>T (p.Lys306Ile)
c.710A>T (p.Lys237Ile)
c.230A>T (p.Lys77Ile)
12g.47994464T>CCA384522479COL2A1c.569A>G (p.Lys190Arg)
c.776A>G (p.Lys259Arg)
c.920A>G (p.Lys307Arg)
c.917A>G (p.Lys306Arg)
c.710A>G (p.Lys237Arg)
c.230A>G (p.Lys77Arg)
12g.47994464T>GCA384522480COL2A1c.569A>C (p.Lys190Thr)
c.776A>C (p.Lys259Thr)
c.920A>C (p.Lys307Thr)
c.917A>C (p.Lys306Thr)
c.710A>C (p.Lys237Thr)
c.230A>C (p.Lys77Thr)
12g.47994465T>ACA384522481COL2A1c.568A>T (p.Lys190Ter)
c.775A>T (p.Lys259Ter)
c.919A>T (p.Lys307Ter)
c.916A>T (p.Lys306Ter)
c.709A>T (p.Lys237Ter)
c.229A>T (p.Lys77Ter)
12g.47994465T>CCA384522483COL2A1c.568A>G (p.Lys190Glu)
c.775A>G (p.Lys259Glu)
c.919A>G (p.Lys307Glu)
c.916A>G (p.Lys306Glu)
c.709A>G (p.Lys237Glu)
c.229A>G (p.Lys77Glu)
12g.47994465T>GCA384522482COL2A1c.568A>C (p.Lys190Gln)
c.775A>C (p.Lys259Gln)
c.919A>C (p.Lys307Gln)
c.916A>C (p.Lys306Gln)
c.709A>C (p.Lys237Gln)
c.229A>C (p.Lys77Gln)
12g.47994466T>ACA479441754COL2A1c.567A>T (p.Gly189=)
c.774A>T (p.Gly258=)
c.918A>T (p.Gly306=)
c.915A>T (p.Gly305=)
c.708A>T (p.Gly236=)
c.228A>T (p.Gly76=)
12g.47994466T>CCA479441755COL2A1c.567A>G (p.Gly189=)
c.774A>G (p.Gly258=)
c.918A>G (p.Gly306=)
c.915A>G (p.Gly305=)
c.708A>G (p.Gly236=)
c.228A>G (p.Gly76=)
12g.47994466T>GCA479441756COL2A1c.567A>C (p.Gly189=)
c.774A>C (p.Gly258=)
c.918A>C (p.Gly306=)
c.915A>C (p.Gly305=)
c.708A>C (p.Gly236=)
c.228A>C (p.Gly76=)
12g.47994467C>ACA384522484COL2A1c.566G>T (p.Gly189Val)
c.773G>T (p.Gly258Val)
c.917G>T (p.Gly306Val)
c.914G>T (p.Gly305Val)
c.707G>T (p.Gly236Val)
c.227G>T (p.Gly76Val)
12g.47994467C>GCA384522485COL2A1c.566G>C (p.Gly189Ala)
c.773G>C (p.Gly258Ala)
c.917G>C (p.Gly306Ala)
c.914G>C (p.Gly305Ala)
c.707G>C (p.Gly236Ala)
c.227G>C (p.Gly76Ala)
12g.47994467C>TCA384522486COL2A1c.566G>A (p.Gly189Glu)
c.773G>A (p.Gly258Glu)
c.917G>A (p.Gly306Glu)
c.914G>A (p.Gly305Glu)
c.707G>A (p.Gly236Glu)
c.227G>A (p.Gly76Glu)
12g.47994468C>ACA384522487COL2A1c.565G>T (p.Gly189Ter)
c.772G>T (p.Gly258Ter)
c.916G>T (p.Gly306Ter)
c.913G>T (p.Gly305Ter)
c.706G>T (p.Gly236Ter)
c.226G>T (p.Gly76Ter)
12g.47994468C>GCA384522488COL2A1c.565G>C (p.Gly189Arg)
c.772G>C (p.Gly258Arg)
c.916G>C (p.Gly306Arg)
c.913G>C (p.Gly305Arg)
c.706G>C (p.Gly236Arg)
c.226G>C (p.Gly76Arg)
12g.47994468C>TCA384522489COL2A1c.565G>A (p.Gly189Arg)
c.772G>A (p.Gly258Arg)
c.916G>A (p.Gly306Arg)
c.913G>A (p.Gly305Arg)
c.706G>A (p.Gly236Arg)
c.226G>A (p.Gly76Arg)
12g.47994469A>CCA479441757COL2A1c.564T>G (p.Ala188=)
c.771T>G (p.Ala257=)
c.915T>G (p.Ala305=)
c.912T>G (p.Ala304=)
c.705T>G (p.Ala235=)
c.225T>G (p.Ala75=)
12g.47994469A>GCA479441758COL2A1c.564T>C (p.Ala188=)
c.771T>C (p.Ala257=)
c.915T>C (p.Ala305=)
c.912T>C (p.Ala304=)
c.705T>C (p.Ala235=)
c.225T>C (p.Ala75=)
 gnomAD v4
12g.47994469A>TCA479441759COL2A1c.564T>A (p.Ala188=)
c.771T>A (p.Ala257=)
c.915T>A (p.Ala305=)
c.912T>A (p.Ala304=)
c.705T>A (p.Ala235=)
c.225T>A (p.Ala75=)
12g.47994470G>ACA384522490COL2A1c.563C>T (p.Ala188Val)
c.770C>T (p.Ala257Val)
c.914C>T (p.Ala305Val)
c.911C>T (p.Ala304Val)
c.704C>T (p.Ala235Val)
c.224C>T (p.Ala75Val)
12g.47994470G>CCA384522491COL2A1c.563C>G (p.Ala188Gly)
c.770C>G (p.Ala257Gly)
c.914C>G (p.Ala305Gly)
c.911C>G (p.Ala304Gly)
c.704C>G (p.Ala235Gly)
c.224C>G (p.Ala75Gly)
 ClinVar
12g.47994470G>TCA384522492COL2A1c.563C>A (p.Ala188Asp)
c.770C>A (p.Ala257Asp)
c.914C>A (p.Ala305Asp)
c.911C>A (p.Ala304Asp)
c.704C>A (p.Ala235Asp)
c.224C>A (p.Ala75Asp)
12g.47994471C>ACA384522494COL2A1c.562G>T (p.Ala188Ser)
c.769G>T (p.Ala257Ser)
c.913G>T (p.Ala305Ser)
c.910G>T (p.Ala304Ser)
c.703G>T (p.Ala235Ser)
c.223G>T (p.Ala75Ser)
12g.47994471C>GCA384522495COL2A1c.562G>C (p.Ala188Pro)
c.769G>C (p.Ala257Pro)
c.913G>C (p.Ala305Pro)
c.910G>C (p.Ala304Pro)
c.703G>C (p.Ala235Pro)
c.223G>C (p.Ala75Pro)
12g.47994471C>TCA384522493COL2A1c.562G>A (p.Ala188Thr)
c.769G>A (p.Ala257Thr)
c.913G>A (p.Ala305Thr)
c.910G>A (p.Ala304Thr)
c.703G>A (p.Ala235Thr)
c.223G>A (p.Ala75Thr)
12g.47994472T>ACA384522496COL2A1c.561A>T (p.Glu187Asp)
c.768A>T (p.Glu256Asp)
c.912A>T (p.Glu304Asp)
c.909A>T (p.Glu303Asp)
c.702A>T (p.Glu234Asp)
c.222A>T (p.Glu74Asp)
12g.47994472T>CCA479441761COL2A1c.561A>G (p.Glu187=)
c.768A>G (p.Glu256=)
c.912A>G (p.Glu304=)
c.909A>G (p.Glu303=)
c.702A>G (p.Glu234=)
c.222A>G (p.Glu74=)
 gnomAD v4
12g.47994472T>GCA384522497COL2A1c.561A>C (p.Glu187Asp)
c.768A>C (p.Glu256Asp)
c.912A>C (p.Glu304Asp)
c.909A>C (p.Glu303Asp)
c.702A>C (p.Glu234Asp)
c.222A>C (p.Glu74Asp)
12g.47994473T>ACA384522498COL2A1c.560A>T (p.Glu187Val)
c.767A>T (p.Glu256Val)
c.911A>T (p.Glu304Val)
c.908A>T (p.Glu303Val)
c.701A>T (p.Glu234Val)
c.221A>T (p.Glu74Val)
12g.47994473T>CCA384522499COL2A1c.560A>G (p.Glu187Gly)
c.767A>G (p.Glu256Gly)
c.911A>G (p.Glu304Gly)
c.908A>G (p.Glu303Gly)
c.701A>G (p.Glu234Gly)
c.221A>G (p.Glu74Gly)
 ClinVar dbSNP
12g.47994473T>GCA384522500COL2A1c.560A>C (p.Glu187Ala)
c.767A>C (p.Glu256Ala)
c.911A>C (p.Glu304Ala)
c.908A>C (p.Glu303Ala)
c.701A>C (p.Glu234Ala)
c.221A>C (p.Glu74Ala)
12g.47994474C>ACA384522502COL2A1c.559G>T (p.Glu187Ter)
c.766G>T (p.Glu256Ter)
c.910G>T (p.Glu304Ter)
c.907G>T (p.Glu303Ter)
c.700G>T (p.Glu234Ter)
c.220G>T (p.Glu74Ter)
12g.47994474C>GCA384522503COL2A1c.559G>C (p.Glu187Gln)
c.766G>C (p.Glu256Gln)
c.910G>C (p.Glu304Gln)
c.907G>C (p.Glu303Gln)
c.700G>C (p.Glu234Gln)
c.220G>C (p.Glu74Gln)
12g.47994474C>TCA384522505COL2A1c.559G>A (p.Glu187Lys)
c.766G>A (p.Glu256Lys)
c.910G>A (p.Glu304Lys)
c.907G>A (p.Glu303Lys)
c.700G>A (p.Glu234Lys)
c.220G>A (p.Glu74Lys)
12g.47994475A>CCA479441765COL2A1c.558T>G (p.Gly186=)
c.765T>G (p.Gly255=)
c.909T>G (p.Gly303=)
c.906T>G (p.Gly302=)
c.699T>G (p.Gly233=)
c.219T>G (p.Gly73=)
12g.47994475A>GCA479441766COL2A1c.558T>C (p.Gly186=)
c.765T>C (p.Gly255=)
c.909T>C (p.Gly303=)
c.906T>C (p.Gly302=)
c.699T>C (p.Gly233=)
c.219T>C (p.Gly73=)
12g.47994475A>TCA479441767COL2A1c.558T>A (p.Gly186=)
c.765T>A (p.Gly255=)
c.909T>A (p.Gly303=)
c.906T>A (p.Gly302=)
c.699T>A (p.Gly233=)
c.219T>A (p.Gly73=)
12g.47994476C>ACA384522507COL2A1c.557G>T (p.Gly186Val)
c.764G>T (p.Gly255Val)
c.908G>T (p.Gly303Val)
c.905G>T (p.Gly302Val)
c.698G>T (p.Gly233Val)
c.218G>T (p.Gly73Val)
12g.47994476C>GCA384522509COL2A1c.557G>C (p.Gly186Ala)
c.764G>C (p.Gly255Ala)
c.908G>C (p.Gly303Ala)
c.905G>C (p.Gly302Ala)
c.698G>C (p.Gly233Ala)
c.218G>C (p.Gly73Ala)
12g.47994476C>TCA384522511COL2A1c.557G>A (p.Gly186Asp)
c.764G>A (p.Gly255Asp)
c.908G>A (p.Gly303Asp)
c.905G>A (p.Gly302Asp)
c.698G>A (p.Gly233Asp)
c.218G>A (p.Gly73Asp)
 gnomAD v4
12g.47994477C>ACA384522514COL2A1c.556G>T (p.Gly186Cys)
c.763G>T (p.Gly255Cys)
c.907G>T (p.Gly303Cys)
c.904G>T (p.Gly302Cys)
c.697G>T (p.Gly233Cys)
c.217G>T (p.Gly73Cys)
12g.47994477C>GCA384522517COL2A1c.556G>C (p.Gly186Arg)
c.763G>C (p.Gly255Arg)
c.907G>C (p.Gly303Arg)
c.904G>C (p.Gly302Arg)
c.697G>C (p.Gly233Arg)
c.217G>C (p.Gly73Arg)
12g.47994477C>TCA384522513COL2A1c.556G>A (p.Gly186Ser)
c.763G>A (p.Gly255Ser)
c.907G>A (p.Gly303Ser)
c.904G>A (p.Gly302Ser)
c.697G>A (p.Gly233Ser)
c.217G>A (p.Gly73Ser)
 ClinVar dbSNP gnomAD v4
12g.47994478C>ACA384522519COL2A1c.556-1G>T (n.556-1G>T)
c.763-1G>T (n.763-1G>T)
c.907-1G>T (n.907-1G>T)
c.904-1G>T (n.904-1G>T)
c.697-1G>T (n.697-1G>T)
c.217-1G>T (n.217-1G>T)
12g.47994478C>GCA384522521COL2A1c.556-1G>C (n.556-1G>C)
c.763-1G>C (n.763-1G>C)
c.907-1G>C (n.907-1G>C)
c.904-1G>C (n.904-1G>C)
c.697-1G>C (n.697-1G>C)
c.217-1G>C (n.217-1G>C)
12g.47994478C>TCA384522523COL2A1c.556-1G>A (n.556-1G>A)
c.763-1G>A (n.763-1G>A)
c.907-1G>A (n.907-1G>A)
c.904-1G>A (n.904-1G>A)
c.697-1G>A (n.697-1G>A)
c.217-1G>A (n.217-1G>A)
12g.47994479T>ACA384522525COL2A1c.556-2A>T (n.556-2A>T)
c.763-2A>T (n.763-2A>T)
c.907-2A>T (n.907-2A>T)
c.904-2A>T (n.904-2A>T)
c.697-2A>T (n.697-2A>T)
c.217-2A>T (n.217-2A>T)
12g.47994479T>CCA384522527COL2A1c.556-2A>G (n.556-2A>G)
c.763-2A>G (n.763-2A>G)
c.907-2A>G (n.907-2A>G)
c.904-2A>G (n.904-2A>G)
c.697-2A>G (n.697-2A>G)
c.217-2A>G (n.217-2A>G)
12g.47994479T>GCA384522529COL2A1c.556-2A>C (n.556-2A>C)
c.763-2A>C (n.763-2A>C)
c.907-2A>C (n.907-2A>C)
c.904-2A>C (n.904-2A>C)
c.697-2A>C (n.697-2A>C)
c.217-2A>C (n.217-2A>C)
12g.47994481A=CA2034478130COL2A1c.556-4T= (n.556-4T=)
c.763-4T= (n.763-4T=)
c.907-4T= (n.907-4T=)
c.904-4T= (n.904-4T=)
c.697-4T= (n.697-4T=)
c.217-4T= (n.217-4T=)
12g.47994481A>CCA2580085467COL2A1c.556-4T>G (n.556-4T>G)
c.763-4T>G (n.763-4T>G)
c.907-4T>G (n.907-4T>G)
c.904-4T>G (n.904-4T>G)
c.697-4T>G (n.697-4T>G)
c.217-4T>G (n.217-4T>G)
 ClinVar
12g.47994481A>GCA6535784COL2A1c.556-4T>C (n.556-4T>C)
c.763-4T>C (n.763-4T>C)
c.907-4T>C (n.907-4T>C)
c.904-4T>C (n.904-4T>C)
c.697-4T>C (n.697-4T>C)
c.217-4T>C (n.217-4T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47994482A>GCA2618515079COL2A1c.556-5T>C (n.556-5T>C)
c.763-5T>C (n.763-5T>C)
c.907-5T>C (n.907-5T>C)
c.904-5T>C (n.904-5T>C)
c.697-5T>C (n.697-5T>C)
c.217-5T>C (n.217-5T>C)
 gnomAD v4
12g.47994482A>TCA2573148720COL2A1c.556-5T>A (n.556-5T>A)
c.763-5T>A (n.763-5T>A)
c.907-5T>A (n.907-5T>A)
c.904-5T>A (n.904-5T>A)
c.697-5T>A (n.697-5T>A)
c.217-5T>A (n.217-5T>A)
 ClinVar dbSNP
12g.47994484G>ACA2739271953COL2A1c.556-7C>T (n.556-7C>T)
c.763-7C>T (n.763-7C>T)
c.907-7C>T (n.907-7C>T)
c.904-7C>T (n.904-7C>T)
c.697-7C>T (n.697-7C>T)
c.217-7C>T (n.217-7C>T)
 ClinVar
12g.47994484G=CA2034478136COL2A1c.556-7C= (n.556-7C=)
c.763-7C= (n.763-7C=)
c.907-7C= (n.907-7C=)
c.904-7C= (n.904-7C=)
c.697-7C= (n.697-7C=)
c.217-7C= (n.217-7C=)
12g.47994484G>TCA6535785COL2A1c.556-7C>A (n.556-7C>A)
c.763-7C>A (n.763-7C>A)
c.907-7C>A (n.907-7C>A)
c.904-7C>A (n.904-7C>A)
c.697-7C>A (n.697-7C>A)
c.217-7C>A (n.217-7C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994484_47994488delinsGGAGACA2034478134COL2A1c.556-11_556-7delinsTCTCC (n.556-11_556-7delinsTCTCC)
c.763-11_763-7delinsTCTCC (n.763-11_763-7delinsTCTCC)
c.907-11_907-7delinsTCTCC (n.907-11_907-7delinsTCTCC)
c.904-11_904-7delinsTCTCC (n.904-11_904-7delinsTCTCC)
c.697-11_697-7delinsTCTCC (n.697-11_697-7delinsTCTCC)
c.217-11_217-7delinsTCTCC (n.217-11_217-7delinsTCTCC)
12g.47994495_47994496dupCA604838248COL2A1c.556-9_556-8dup (n.556-9_556-8dup)
c.763-9_763-8dup (n.763-9_763-8dup)
c.907-9_907-8dup (n.907-9_907-8dup)
c.904-9_904-8dup (n.904-9_904-8dup)
c.697-9_697-8dup (n.697-9_697-8dup)
c.217-9_217-8dup (n.217-9_217-8dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47994493_47994496dupCA947345678COL2A1c.556-11_556-8dup (n.556-11_556-8dup)
c.763-11_763-8dup (n.763-11_763-8dup)
c.907-11_907-8dup (n.907-11_907-8dup)
c.904-11_904-8dup (n.904-11_904-8dup)
c.697-11_697-8dup (n.697-11_697-8dup)
c.217-11_217-8dup (n.217-11_217-8dup)
 dbSNP gnomAD v3 gnomAD v4
12g.47994495_47994496delCA6535786COL2A1c.556-9_556-8del (n.556-9_556-8del)
c.763-9_763-8del (n.763-9_763-8del)
c.907-9_907-8del (n.907-9_907-8del)
c.904-9_904-8del (n.904-9_904-8del)
c.697-9_697-8del (n.697-9_697-8del)
c.217-9_217-8del (n.217-9_217-8del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994493_47994496delCA2034478142COL2A1c.556-11_556-8del (n.556-11_556-8del)
c.763-11_763-8del (n.763-11_763-8del)
c.907-11_907-8del (n.907-11_907-8del)
c.904-11_904-8del (n.904-11_904-8del)
c.697-11_697-8del (n.697-11_697-8del)
c.217-11_217-8del (n.217-11_217-8del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47994486A=CA2034478147COL2A1c.556-9T= (n.556-9T=)
c.763-9T= (n.763-9T=)
c.907-9T= (n.907-9T=)
c.904-9T= (n.904-9T=)
c.697-9T= (n.697-9T=)
c.217-9T= (n.217-9T=)
12g.47994486A>TCA2034478148COL2A1c.556-9T>A (n.556-9T>A)
c.763-9T>A (n.763-9T>A)
c.907-9T>A (n.907-9T>A)
c.904-9T>A (n.904-9T>A)
c.697-9T>A (n.697-9T>A)
c.217-9T>A (n.217-9T>A)
 dbSNP
12g.47994487G>ACA6535787COL2A1c.556-10C>T (n.556-10C>T)
c.763-10C>T (n.763-10C>T)
c.907-10C>T (n.907-10C>T)
c.904-10C>T (n.904-10C>T)
c.697-10C>T (n.697-10C>T)
c.217-10C>T (n.217-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994487G=CA2034478150COL2A1c.556-10C= (n.556-10C=)
c.763-10C= (n.763-10C=)
c.907-10C= (n.907-10C=)
c.904-10C= (n.904-10C=)
c.697-10C= (n.697-10C=)
c.217-10C= (n.217-10C=)
12g.47994488_47994489delinsAGCA2034478152COL2A1c.556-12_556-11delinsCT (n.556-12_556-11delinsCT)
c.763-12_763-11delinsCT (n.763-12_763-11delinsCT)
c.907-12_907-11delinsCT (n.907-12_907-11delinsCT)
c.904-12_904-11delinsCT (n.904-12_904-11delinsCT)
c.697-12_697-11delinsCT (n.697-12_697-11delinsCT)
c.217-12_217-11delinsCT (n.217-12_217-11delinsCT)
12g.47994489delCA2034478154COL2A1c.556-12del (n.556-12del)
c.763-12del (n.763-12del)
c.907-12del (n.907-12del)
c.904-12del (n.904-12del)
c.697-12del (n.697-12del)
c.217-12del (n.217-12del)
 dbSNP
12g.47994489G>CCA2726225482COL2A1c.556-12C>G (n.556-12C>G)
c.763-12C>G (n.763-12C>G)
c.907-12C>G (n.907-12C>G)
c.904-12C>G (n.904-12C>G)
c.697-12C>G (n.697-12C>G)
c.217-12C>G (n.217-12C>G)
 dbSNP
12g.47994490A>GCA2618515091COL2A1c.556-13T>C (n.556-13T>C)
c.763-13T>C (n.763-13T>C)
c.907-13T>C (n.907-13T>C)
c.904-13T>C (n.904-13T>C)
c.697-13T>C (n.697-13T>C)
c.217-13T>C (n.217-13T>C)
 gnomAD v4
12g.47994491G>ACA236491140COL2A1c.556-14C>T (n.556-14C>T)
c.763-14C>T (n.763-14C>T)
c.907-14C>T (n.907-14C>T)
c.904-14C>T (n.904-14C>T)
c.697-14C>T (n.697-14C>T)
c.217-14C>T (n.217-14C>T)
 dbSNP
12g.47994491G>CCA2618515094COL2A1c.556-14C>G (n.556-14C>G)
c.763-14C>G (n.763-14C>G)
c.907-14C>G (n.907-14C>G)
c.904-14C>G (n.904-14C>G)
c.697-14C>G (n.697-14C>G)
c.217-14C>G (n.217-14C>G)
 gnomAD v4
12g.47994491G=CA2034478155COL2A1c.556-14C= (n.556-14C=)
c.763-14C= (n.763-14C=)
c.907-14C= (n.907-14C=)
c.904-14C= (n.904-14C=)
c.697-14C= (n.697-14C=)
c.217-14C= (n.217-14C=)
12g.47994495G>ACA2618515097COL2A1c.556-18C>T (n.556-18C>T)
c.763-18C>T (n.763-18C>T)
c.907-18C>T (n.907-18C>T)
c.904-18C>T (n.904-18C>T)
c.697-18C>T (n.697-18C>T)
c.217-18C>T (n.217-18C>T)
 gnomAD v4
12g.47994495G=CA2034478157COL2A1c.556-18C= (n.556-18C=)
c.763-18C= (n.763-18C=)
c.907-18C= (n.907-18C=)
c.904-18C= (n.904-18C=)
c.697-18C= (n.697-18C=)
c.217-18C= (n.217-18C=)
12g.47994495G>TCA6535788COL2A1c.556-18C>A (n.556-18C>A)
c.763-18C>A (n.763-18C>A)
c.907-18C>A (n.907-18C>A)
c.904-18C>A (n.904-18C>A)
c.697-18C>A (n.697-18C>A)
c.217-18C>A (n.217-18C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47994497T>GCA6535789COL2A1c.556-20A>C (n.556-20A>C)
c.763-20A>C (n.763-20A>C)
c.907-20A>C (n.907-20A>C)
c.904-20A>C (n.904-20A>C)
c.697-20A>C (n.697-20A>C)
c.217-20A>C (n.217-20A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994497T=CA2034478162COL2A1c.556-20A= (n.556-20A=)
c.763-20A= (n.763-20A=)
c.907-20A= (n.907-20A=)
c.904-20A= (n.904-20A=)
c.697-20A= (n.697-20A=)
c.217-20A= (n.217-20A=)
12g.47994499T>ACA6535790COL2A1c.556-22A>T (n.556-22A>T)
c.763-22A>T (n.763-22A>T)
c.907-22A>T (n.907-22A>T)
c.904-22A>T (n.904-22A>T)
c.697-22A>T (n.697-22A>T)
c.217-22A>T (n.217-22A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994499T>CCA604838257COL2A1c.556-22A>G (n.556-22A>G)
c.763-22A>G (n.763-22A>G)
c.907-22A>G (n.907-22A>G)
c.904-22A>G (n.904-22A>G)
c.697-22A>G (n.697-22A>G)
c.217-22A>G (n.217-22A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.47994499T=CA2034478164COL2A1c.556-22A= (n.556-22A=)
c.763-22A= (n.763-22A=)
c.907-22A= (n.907-22A=)
c.904-22A= (n.904-22A=)
c.697-22A= (n.697-22A=)
c.217-22A= (n.217-22A=)
12g.47994500C>ACA2034478171COL2A1c.556-23G>T (n.556-23G>T)
c.763-23G>T (n.763-23G>T)
c.907-23G>T (n.907-23G>T)
c.904-23G>T (n.904-23G>T)
c.697-23G>T (n.697-23G>T)
c.217-23G>T (n.217-23G>T)
 dbSNP gnomAD v4
12g.47994500C=CA2034478170COL2A1c.556-23G= (n.556-23G=)
c.763-23G= (n.763-23G=)
c.907-23G= (n.907-23G=)
c.904-23G= (n.904-23G=)
c.697-23G= (n.697-23G=)
c.217-23G= (n.217-23G=)
12g.47994500C>TCA6535791COL2A1c.556-23G>A (n.556-23G>A)
c.763-23G>A (n.763-23G>A)
c.907-23G>A (n.907-23G>A)
c.904-23G>A (n.904-23G>A)
c.697-23G>A (n.697-23G>A)
c.217-23G>A (n.217-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994501C>ACA2618515109COL2A1c.556-24G>T (n.556-24G>T)
c.763-24G>T (n.763-24G>T)
c.907-24G>T (n.907-24G>T)
c.904-24G>T (n.904-24G>T)
c.697-24G>T (n.697-24G>T)
c.217-24G>T (n.217-24G>T)
 gnomAD v4
12g.47994501C>TCA2726225586COL2A1c.556-24G>A (n.556-24G>A)
c.763-24G>A (n.763-24G>A)
c.907-24G>A (n.907-24G>A)
c.904-24G>A (n.904-24G>A)
c.697-24G>A (n.697-24G>A)
c.217-24G>A (n.217-24G>A)
 dbSNP
12g.47994502C>ACA6535792COL2A1c.556-25G>T (n.556-25G>T)
c.763-25G>T (n.763-25G>T)
c.907-25G>T (n.907-25G>T)
c.904-25G>T (n.904-25G>T)
c.697-25G>T (n.697-25G>T)
c.217-25G>T (n.217-25G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994502C=CA2034478175COL2A1c.556-25G= (n.556-25G=)
c.763-25G= (n.763-25G=)
c.907-25G= (n.907-25G=)
c.904-25G= (n.904-25G=)
c.697-25G= (n.697-25G=)
c.217-25G= (n.217-25G=)
12g.47994504G>CCA2034478182COL2A1c.556-27C>G (n.556-27C>G)
c.763-27C>G (n.763-27C>G)
c.907-27C>G (n.907-27C>G)
c.904-27C>G (n.904-27C>G)
c.697-27C>G (n.697-27C>G)
c.217-27C>G (n.217-27C>G)
 dbSNP gnomAD v4
12g.47994504G=CA2034478180COL2A1c.556-27C= (n.556-27C=)
c.763-27C= (n.763-27C=)
c.907-27C= (n.907-27C=)
c.904-27C= (n.904-27C=)
c.697-27C= (n.697-27C=)
c.217-27C= (n.217-27C=)
12g.47994504G>TCA2726091153COL2A1c.556-27C>A (n.556-27C>A)
c.763-27C>A (n.763-27C>A)
c.907-27C>A (n.907-27C>A)
c.904-27C>A (n.904-27C>A)
c.697-27C>A (n.697-27C>A)
c.217-27C>A (n.217-27C>A)
 dbSNP
12g.47994508C=CA2034478183COL2A1c.556-31G= (n.556-31G=)
c.763-31G= (n.763-31G=)
c.907-31G= (n.907-31G=)
c.904-31G= (n.904-31G=)
c.697-31G= (n.697-31G=)
c.217-31G= (n.217-31G=)
12g.47994508C>TCA2034478185COL2A1c.556-31G>A (n.556-31G>A)
c.763-31G>A (n.763-31G>A)
c.907-31G>A (n.907-31G>A)
c.904-31G>A (n.904-31G>A)
c.697-31G>A (n.697-31G>A)
c.217-31G>A (n.217-31G>A)
 dbSNP gnomAD v4
12g.47994509C=CA2034478186COL2A1c.556-32G= (n.556-32G=)
c.763-32G= (n.763-32G=)
c.907-32G= (n.907-32G=)
c.904-32G= (n.904-32G=)
c.697-32G= (n.697-32G=)
c.217-32G= (n.217-32G=)
12g.47994509C>TCA6535793COL2A1c.556-32G>A (n.556-32G>A)
c.763-32G>A (n.763-32G>A)
c.907-32G>A (n.907-32G>A)
c.904-32G>A (n.904-32G>A)
c.697-32G>A (n.697-32G>A)
c.217-32G>A (n.217-32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994511C>ACA2034478190COL2A1c.556-34G>T (n.556-34G>T)
c.763-34G>T (n.763-34G>T)
c.907-34G>T (n.907-34G>T)
c.904-34G>T (n.904-34G>T)
c.697-34G>T (n.697-34G>T)
c.217-34G>T (n.217-34G>T)
 dbSNP gnomAD v4
12g.47994511C=CA2034478189COL2A1c.556-34G= (n.556-34G=)
c.763-34G= (n.763-34G=)
c.907-34G= (n.907-34G=)
c.904-34G= (n.904-34G=)
c.697-34G= (n.697-34G=)
c.217-34G= (n.217-34G=)
12g.47994511C>GCA604838274COL2A1c.556-34G>C (n.556-34G>C)
c.763-34G>C (n.763-34G>C)
c.907-34G>C (n.907-34G>C)
c.904-34G>C (n.904-34G>C)
c.697-34G>C (n.697-34G>C)
c.217-34G>C (n.217-34G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47994512A>GCA2618515142COL2A1c.556-35T>C (n.556-35T>C)
c.763-35T>C (n.763-35T>C)
c.907-35T>C (n.907-35T>C)
c.904-35T>C (n.904-35T>C)
c.697-35T>C (n.697-35T>C)
c.217-35T>C (n.217-35T>C)
 gnomAD v4
12g.47994515G>ACA2618515145COL2A1c.556-38C>T (n.556-38C>T)
c.763-38C>T (n.763-38C>T)
c.907-38C>T (n.907-38C>T)
c.904-38C>T (n.904-38C>T)
c.697-38C>T (n.697-38C>T)
c.217-38C>T (n.217-38C>T)
 gnomAD v4
12g.47994515G>CCA947345687COL2A1c.556-38C>G (n.556-38C>G)
c.763-38C>G (n.763-38C>G)
c.907-38C>G (n.907-38C>G)
c.904-38C>G (n.904-38C>G)
c.697-38C>G (n.697-38C>G)
c.217-38C>G (n.217-38C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.47994515G=CA2034478192COL2A1c.556-38C= (n.556-38C=)
c.763-38C= (n.763-38C=)
c.907-38C= (n.907-38C=)
c.904-38C= (n.904-38C=)
c.697-38C= (n.697-38C=)
c.217-38C= (n.217-38C=)
12g.47994517C=CA2034478194COL2A1c.556-40G= (n.556-40G=)
c.763-40G= (n.763-40G=)
c.907-40G= (n.907-40G=)
c.904-40G= (n.904-40G=)
c.697-40G= (n.697-40G=)
c.217-40G= (n.217-40G=)
12g.47994517C>TCA6535794COL2A1c.556-40G>A (n.556-40G>A)
c.763-40G>A (n.763-40G>A)
c.907-40G>A (n.907-40G>A)
c.904-40G>A (n.904-40G>A)
c.697-40G>A (n.697-40G>A)
c.217-40G>A (n.217-40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.47994518_47994519delCA2618515154COL2A1c.556-41_556-40del (n.556-41_556-40del)
c.763-41_763-40del (n.763-41_763-40del)
c.907-41_907-40del (n.907-41_907-40del)
c.904-41_904-40del (n.904-41_904-40del)
c.697-41_697-40del (n.697-41_697-40del)
c.217-41_217-40del (n.217-41_217-40del)
 gnomAD v4
12g.47994518G>ACA6535795COL2A1c.556-41C>T (n.556-41C>T)
c.763-41C>T (n.763-41C>T)
c.907-41C>T (n.907-41C>T)
c.904-41C>T (n.904-41C>T)
c.697-41C>T (n.697-41C>T)
c.217-41C>T (n.217-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994518G=CA2034478196COL2A1c.556-41C= (n.556-41C=)
c.763-41C= (n.763-41C=)
c.907-41C= (n.907-41C=)
c.904-41C= (n.904-41C=)
c.697-41C= (n.697-41C=)
c.217-41C= (n.217-41C=)
12g.47994518G>TCA2575138482COL2A1c.556-41C>A (n.556-41C>A)
c.763-41C>A (n.763-41C>A)
c.907-41C>A (n.907-41C>A)
c.904-41C>A (n.904-41C>A)
c.697-41C>A (n.697-41C>A)
c.217-41C>A (n.217-41C>A)
 gnomAD v4
12g.47994519C>ACA2581085013COL2A1c.556-42G>T (n.556-42G>T)
c.763-42G>T (n.763-42G>T)
c.907-42G>T (n.907-42G>T)
c.904-42G>T (n.904-42G>T)
c.697-42G>T (n.697-42G>T)
c.217-42G>T (n.217-42G>T)
12g.47994519C=CA2034478197COL2A1c.556-42G= (n.556-42G=)
c.763-42G= (n.763-42G=)
c.907-42G= (n.907-42G=)
c.904-42G= (n.904-42G=)
c.697-42G= (n.697-42G=)
c.217-42G= (n.217-42G=)
12g.47994519C>GCA2581085014COL2A1c.556-42G>C (n.556-42G>C)
c.763-42G>C (n.763-42G>C)
c.907-42G>C (n.907-42G>C)
c.904-42G>C (n.904-42G>C)
c.697-42G>C (n.697-42G>C)
c.217-42G>C (n.217-42G>C)
12g.47994519C>TCA6535796COL2A1c.556-42G>A (n.556-42G>A)
c.763-42G>A (n.763-42G>A)
c.907-42G>A (n.907-42G>A)
c.904-42G>A (n.904-42G>A)
c.697-42G>A (n.697-42G>A)
c.217-42G>A (n.217-42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994520A=CA2034478199COL2A1c.556-43T= (n.556-43T=)
c.763-43T= (n.763-43T=)
c.907-43T= (n.907-43T=)
c.904-43T= (n.904-43T=)
c.697-43T= (n.697-43T=)
c.217-43T= (n.217-43T=)
12g.47994520A>CCA689449926COL2A1c.556-43T>G (n.556-43T>G)
c.763-43T>G (n.763-43T>G)
c.907-43T>G (n.907-43T>G)
c.904-43T>G (n.904-43T>G)
c.697-43T>G (n.697-43T>G)
c.217-43T>G (n.217-43T>G)
 dbSNP
12g.47994520A>GCA2618515162COL2A1c.556-43T>C (n.556-43T>C)
c.763-43T>C (n.763-43T>C)
c.907-43T>C (n.907-43T>C)
c.904-43T>C (n.904-43T>C)
c.697-43T>C (n.697-43T>C)
c.217-43T>C (n.217-43T>C)
 gnomAD v4
12g.47994521G>ACA6535797COL2A1c.556-44C>T (n.556-44C>T)
c.763-44C>T (n.763-44C>T)
c.907-44C>T (n.907-44C>T)
c.904-44C>T (n.904-44C>T)
c.697-44C>T (n.697-44C>T)
c.217-44C>T (n.217-44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47994521G=CA2034478201COL2A1c.556-44C= (n.556-44C=)
c.763-44C= (n.763-44C=)
c.907-44C= (n.907-44C=)
c.904-44C= (n.904-44C=)
c.697-44C= (n.697-44C=)
c.217-44C= (n.217-44C=)
12g.47994522T>CCA2618515163COL2A1c.556-45A>G (n.556-45A>G)
c.763-45A>G (n.763-45A>G)
c.907-45A>G (n.907-45A>G)
c.904-45A>G (n.904-45A>G)
c.697-45A>G (n.697-45A>G)
c.217-45A>G (n.217-45A>G)
 gnomAD v4
12g.47994525C>ACA2618515165COL2A1c.556-48G>T (n.556-48G>T)
c.763-48G>T (n.763-48G>T)
c.907-48G>T (n.907-48G>T)
c.904-48G>T (n.904-48G>T)
c.697-48G>T (n.697-48G>T)
c.217-48G>T (n.217-48G>T)
 gnomAD v4
12g.47994525C>TCA2618515164COL2A1c.556-48G>A (n.556-48G>A)
c.763-48G>A (n.763-48G>A)
c.907-48G>A (n.907-48G>A)
c.904-48G>A (n.904-48G>A)
c.697-48G>A (n.697-48G>A)
c.217-48G>A (n.217-48G>A)
 gnomAD v4
12g.47994526A=CA2034478203COL2A1c.556-49T= (n.556-49T=)
c.763-49T= (n.763-49T=)
c.907-49T= (n.907-49T=)
c.904-49T= (n.904-49T=)
c.697-49T= (n.697-49T=)
c.217-49T= (n.217-49T=)
12g.47994526A>CCA689449931COL2A1c.556-49T>G (n.556-49T>G)
c.763-49T>G (n.763-49T>G)
c.907-49T>G (n.907-49T>G)
c.904-49T>G (n.904-49T>G)
c.697-49T>G (n.697-49T>G)
c.217-49T>G (n.217-49T>G)
 dbSNP gnomAD v3 gnomAD v4
12g.47994526A>GCA2618515166COL2A1c.556-49T>C (n.556-49T>C)
c.763-49T>C (n.763-49T>C)
c.907-49T>C (n.907-49T>C)
c.904-49T>C (n.904-49T>C)
c.697-49T>C (n.697-49T>C)
c.217-49T>C (n.217-49T>C)
 gnomAD v4
12g.47994526dupCA2795863892COL2A1c.556-49dup (n.556-49dup)
c.763-49dup (n.763-49dup)
c.907-49dup (n.907-49dup)
c.904-49dup (n.904-49dup)
c.697-49dup (n.697-49dup)
c.217-49dup (n.217-49dup)
12g.47994527T>CCA2618515167COL2A1c.556-50A>G (n.556-50A>G)
c.763-50A>G (n.763-50A>G)
c.907-50A>G (n.907-50A>G)
c.904-50A>G (n.904-50A>G)
c.697-50A>G (n.697-50A>G)
c.217-50A>G (n.217-50A>G)
 gnomAD v4
12g.47994529G>ACA2618515169COL2A1c.556-52C>T (n.556-52C>T)
c.763-52C>T (n.763-52C>T)
c.907-52C>T (n.907-52C>T)
c.904-52C>T (n.904-52C>T)
c.697-52C>T (n.697-52C>T)
c.217-52C>T (n.217-52C>T)
 gnomAD v4
12g.47994529G>CCA2618515171COL2A1c.556-52C>G (n.556-52C>G)
c.763-52C>G (n.763-52C>G)
c.907-52C>G (n.907-52C>G)
c.904-52C>G (n.904-52C>G)
c.697-52C>G (n.697-52C>G)
c.217-52C>G (n.217-52C>G)
 gnomAD v4
12g.47994529G>TCA2618515173COL2A1c.556-52C>A (n.556-52C>A)
c.763-52C>A (n.763-52C>A)
c.907-52C>A (n.907-52C>A)
c.904-52C>A (n.904-52C>A)
c.697-52C>A (n.697-52C>A)
c.217-52C>A (n.217-52C>A)
 gnomAD v4
12g.47994530T>ACA2618515175COL2A1c.556-53A>T (n.556-53A>T)
c.763-53A>T (n.763-53A>T)
c.907-53A>T (n.907-53A>T)
c.904-53A>T (n.904-53A>T)
c.697-53A>T (n.697-53A>T)
c.217-53A>T (n.217-53A>T)
 gnomAD v4
12g.47994530_47994531delinsTGCA2034478205COL2A1c.556-54_556-53delinsCA (n.556-54_556-53delinsCA)
c.763-54_763-53delinsCA (n.763-54_763-53delinsCA)
c.907-54_907-53delinsCA (n.907-54_907-53delinsCA)
c.904-54_904-53delinsCA (n.904-54_904-53delinsCA)
c.697-54_697-53delinsCA (n.697-54_697-53delinsCA)
c.217-54_217-53delinsCA (n.217-54_217-53delinsCA)
12g.47994530_47994531insACACA2795863893COL2A1c.556-54_556-53insTGT (n.556-54_556-53insTGT)
c.763-54_763-53insTGT (n.763-54_763-53insTGT)
c.907-54_907-53insTGT (n.907-54_907-53insTGT)
c.904-54_904-53insTGT (n.904-54_904-53insTGT)
c.697-54_697-53insTGT (n.697-54_697-53insTGT)
c.217-54_217-53insTGT (n.217-54_217-53insTGT)
12g.47994531G>CCA2618515179COL2A1c.556-54C>G (n.556-54C>G)
c.763-54C>G (n.763-54C>G)
c.907-54C>G (n.907-54C>G)
c.904-54C>G (n.904-54C>G)
c.697-54C>G (n.697-54C>G)
c.217-54C>G (n.217-54C>G)
 gnomAD v4
12g.47994531G>TCA2618515178COL2A1c.556-54C>A (n.556-54C>A)
c.763-54C>A (n.763-54C>A)
c.907-54C>A (n.907-54C>A)
c.904-54C>A (n.904-54C>A)
c.697-54C>A (n.697-54C>A)
c.217-54C>A (n.217-54C>A)
 gnomAD v4
12g.47994535delCA604838280COL2A1c.556-54del (n.556-54del)
c.763-54del (n.763-54del)
c.907-54del (n.907-54del)
c.904-54del (n.904-54del)
c.697-54del (n.697-54del)
c.217-54del (n.217-54del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47994533G>ACA2618515181COL2A1c.556-56C>T (n.556-56C>T)
c.763-56C>T (n.763-56C>T)
c.907-56C>T (n.907-56C>T)
c.904-56C>T (n.904-56C>T)
c.697-56C>T (n.697-56C>T)
c.217-56C>T (n.217-56C>T)
 gnomAD v4
12g.47994534G>ACA2795863895COL2A1c.556-57C>T (n.556-57C>T)
c.763-57C>T (n.763-57C>T)
c.907-57C>T (n.907-57C>T)
c.904-57C>T (n.904-57C>T)
c.697-57C>T (n.697-57C>T)
c.217-57C>T (n.217-57C>T)
12g.47994534_47994535insTCA2618515184COL2A1c.556-58_556-57insA (n.556-58_556-57insA)
c.763-58_763-57insA (n.763-58_763-57insA)
c.907-58_907-57insA (n.907-58_907-57insA)
c.904-58_904-57insA (n.904-58_904-57insA)
c.697-58_697-57insA (n.697-58_697-57insA)
c.217-58_217-57insA (n.217-58_217-57insA)
 gnomAD v4
12g.47994535G>ACA2618515186COL2A1c.556-58C>T (n.556-58C>T)
c.763-58C>T (n.763-58C>T)
c.907-58C>T (n.907-58C>T)
c.904-58C>T (n.904-58C>T)
c.697-58C>T (n.697-58C>T)
c.217-58C>T (n.217-58C>T)
 gnomAD v4
12g.47994535G>TCA2618515187COL2A1c.556-58C>A (n.556-58C>A)
c.763-58C>A (n.763-58C>A)
c.907-58C>A (n.907-58C>A)
c.904-58C>A (n.904-58C>A)
c.697-58C>A (n.697-58C>A)
c.217-58C>A (n.217-58C>A)
 gnomAD v4
12g.47994536C>TCA2575138483COL2A1c.556-59G>A (n.556-59G>A)
c.763-59G>A (n.763-59G>A)
c.907-59G>A (n.907-59G>A)
c.904-59G>A (n.904-59G>A)
c.697-59G>A (n.697-59G>A)
c.217-59G>A (n.217-59G>A)
12g.47994537delCA2618515190COL2A1c.556-60del (n.556-60del)
c.763-60del (n.763-60del)
c.907-60del (n.907-60del)
c.904-60del (n.904-60del)
c.697-60del (n.697-60del)
c.217-60del (n.217-60del)
 gnomAD v4
12g.47994537A=CA2034478209COL2A1c.556-60T= (n.556-60T=)
c.763-60T= (n.763-60T=)
c.907-60T= (n.907-60T=)
c.904-60T= (n.904-60T=)
c.697-60T= (n.697-60T=)
c.217-60T= (n.217-60T=)
12g.47994537A>GCA604838281COL2A1c.556-60T>C (n.556-60T>C)
c.763-60T>C (n.763-60T>C)
c.907-60T>C (n.907-60T>C)
c.904-60T>C (n.904-60T>C)
c.697-60T>C (n.697-60T>C)
c.217-60T>C (n.217-60T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47994537dupCA2618515189COL2A1c.556-60dup (n.556-60dup)
c.763-60dup (n.763-60dup)
c.907-60dup (n.907-60dup)
c.904-60dup (n.904-60dup)
c.697-60dup (n.697-60dup)
c.217-60dup (n.217-60dup)
 gnomAD v4
12g.47994538C>GCA2618515195COL2A1c.556-61G>C (n.556-61G>C)
c.763-61G>C (n.763-61G>C)
c.907-61G>C (n.907-61G>C)
c.904-61G>C (n.904-61G>C)
c.697-61G>C (n.697-61G>C)
c.217-61G>C (n.217-61G>C)
 gnomAD v4
12g.47994538C>TCA2618515196COL2A1c.556-61G>A (n.556-61G>A)
c.763-61G>A (n.763-61G>A)
c.907-61G>A (n.907-61G>A)
c.904-61G>A (n.904-61G>A)
c.697-61G>A (n.697-61G>A)
c.217-61G>A (n.217-61G>A)
 gnomAD v4
12g.47994541delCA2575138484COL2A1c.556-61del (n.556-61del)
c.763-61del (n.763-61del)
c.907-61del (n.907-61del)
c.904-61del (n.904-61del)
c.697-61del (n.697-61del)
c.217-61del (n.217-61del)
12g.47994539C>ACA947345698COL2A1c.556-62G>T (n.556-62G>T)
c.763-62G>T (n.763-62G>T)
c.907-62G>T (n.907-62G>T)
c.904-62G>T (n.904-62G>T)
c.697-62G>T (n.697-62G>T)
c.217-62G>T (n.217-62G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.47994539C=CA2034478212COL2A1c.556-62G= (n.556-62G=)
c.763-62G= (n.763-62G=)
c.907-62G= (n.907-62G=)
c.904-62G= (n.904-62G=)
c.697-62G= (n.697-62G=)
c.217-62G= (n.217-62G=)
12g.47994539C>TCA654728316COL2A1c.556-62G>A (n.556-62G>A)
c.763-62G>A (n.763-62G>A)
c.907-62G>A (n.907-62G>A)
c.904-62G>A (n.904-62G>A)
c.697-62G>A (n.697-62G>A)
c.217-62G>A (n.217-62G>A)
 gnomAD v4 COSMIC
12g.47994540C>TCA2618515201COL2A1c.556-63G>A (n.556-63G>A)
c.763-63G>A (n.763-63G>A)
c.907-63G>A (n.907-63G>A)
c.904-63G>A (n.904-63G>A)
c.697-63G>A (n.697-63G>A)
c.217-63G>A (n.217-63G>A)
 gnomAD v4

Number of alleles fetched