Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47977921_47977968dupCA604848796COL2A1c.2904+42_2904+89dup (n.2904+42_2904+89dup)
c.3111+42_3111+89dup (n.3111+42_3111+89dup)
n.2197+42_2197+89dup
c.3255+42_3255+89dup (n.3255+42_3255+89dup)
c.3252+42_3252+89dup (n.3252+42_3252+89dup)
c.2199+42_2199+89dup (n.2199+42_2199+89dup)
c.3045+42_3045+89dup (n.3045+42_3045+89dup)
c.2565+42_2565+89dup (n.2565+42_2565+89dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977962G=CA2034476658COL2A1c.2904+48C= (n.2904+48C=)
c.3111+48C= (n.3111+48C=)
n.2197+48C=
c.3255+48C= (n.3255+48C=)
c.3252+48C= (n.3252+48C=)
c.2199+48C= (n.2199+48C=)
c.3045+48C= (n.3045+48C=)
c.2565+48C= (n.2565+48C=)
12g.47977962G>TCA604848797COL2A1c.2904+48C>A (n.2904+48C>A)
c.3111+48C>A (n.3111+48C>A)
n.2197+48C>A
c.3255+48C>A (n.3255+48C>A)
c.3252+48C>A (n.3252+48C>A)
c.2199+48C>A (n.2199+48C>A)
c.3045+48C>A (n.3045+48C>A)
c.2565+48C>A (n.2565+48C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.47977964delCA2575137356COL2A1c.2904+48del (n.2904+48del)
c.3111+48del (n.3111+48del)
n.2197+48del
c.3255+48del (n.3255+48del)
c.3252+48del (n.3252+48del)
c.2199+48del (n.2199+48del)
c.3045+48del (n.3045+48del)
c.2565+48del (n.2565+48del)
12g.47977964G>ACA2726226020COL2A1c.2904+46C>T (n.2904+46C>T)
c.3111+46C>T (n.3111+46C>T)
n.2197+46C>T
c.3255+46C>T (n.3255+46C>T)
c.3252+46C>T (n.3252+46C>T)
c.2199+46C>T (n.2199+46C>T)
c.3045+46C>T (n.3045+46C>T)
c.2565+46C>T (n.2565+46C>T)
 dbSNP
12g.47977964G>TCA2618499194COL2A1c.2904+46C>A (n.2904+46C>A)
c.3111+46C>A (n.3111+46C>A)
n.2197+46C>A
c.3255+46C>A (n.3255+46C>A)
c.3252+46C>A (n.3252+46C>A)
c.2199+46C>A (n.2199+46C>A)
c.3045+46C>A (n.3045+46C>A)
c.2565+46C>A (n.2565+46C>A)
 gnomAD v4
12g.47977965C>ACA6534884COL2A1c.2904+45G>T (n.2904+45G>T)
c.3111+45G>T (n.3111+45G>T)
n.2197+45G>T
c.3255+45G>T (n.3255+45G>T)
c.3252+45G>T (n.3252+45G>T)
c.2199+45G>T (n.2199+45G>T)
c.3045+45G>T (n.3045+45G>T)
c.2565+45G>T (n.2565+45G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977965C=CA2034476659COL2A1c.2904+45G= (n.2904+45G=)
c.3111+45G= (n.3111+45G=)
n.2197+45G=
c.3255+45G= (n.3255+45G=)
c.3252+45G= (n.3252+45G=)
c.2199+45G= (n.2199+45G=)
c.3045+45G= (n.3045+45G=)
c.2565+45G= (n.2565+45G=)
12g.47977965C>TCA2618499196COL2A1c.2904+45G>A (n.2904+45G>A)
c.3111+45G>A (n.3111+45G>A)
n.2197+45G>A
c.3255+45G>A (n.3255+45G>A)
c.3252+45G>A (n.3252+45G>A)
c.2199+45G>A (n.2199+45G>A)
c.3045+45G>A (n.3045+45G>A)
c.2565+45G>A (n.2565+45G>A)
 gnomAD v4
12g.47977968dupCA2795861430COL2A1c.2904+45dup (n.2904+45dup)
c.3111+45dup (n.3111+45dup)
n.2197+45dup
c.3255+45dup (n.3255+45dup)
c.3252+45dup (n.3252+45dup)
c.2199+45dup (n.2199+45dup)
c.3045+45dup (n.3045+45dup)
c.2565+45dup (n.2565+45dup)
12g.47977966C>ACA6534886COL2A1c.2904+44G>T (n.2904+44G>T)
c.3111+44G>T (n.3111+44G>T)
n.2197+44G>T
c.3255+44G>T (n.3255+44G>T)
c.3252+44G>T (n.3252+44G>T)
c.2199+44G>T (n.2199+44G>T)
c.3045+44G>T (n.3045+44G>T)
c.2565+44G>T (n.2565+44G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977966C=CA2034476660COL2A1c.2904+44G= (n.2904+44G=)
c.3111+44G= (n.3111+44G=)
n.2197+44G=
c.3255+44G= (n.3255+44G=)
c.3252+44G= (n.3252+44G=)
c.2199+44G= (n.2199+44G=)
c.3045+44G= (n.3045+44G=)
c.2565+44G= (n.2565+44G=)
12g.47977966C>TCA6534885COL2A1c.2904+44G>A (n.2904+44G>A)
c.3111+44G>A (n.3111+44G>A)
n.2197+44G>A
c.3255+44G>A (n.3255+44G>A)
c.3252+44G>A (n.3252+44G>A)
c.2199+44G>A (n.2199+44G>A)
c.3045+44G>A (n.3045+44G>A)
c.2565+44G>A (n.2565+44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977967C>ACA2618499212COL2A1c.2904+43G>T (n.2904+43G>T)
c.3111+43G>T (n.3111+43G>T)
n.2197+43G>T
c.3255+43G>T (n.3255+43G>T)
c.3252+43G>T (n.3252+43G>T)
c.2199+43G>T (n.2199+43G>T)
c.3045+43G>T (n.3045+43G>T)
c.2565+43G>T (n.2565+43G>T)
 gnomAD v4
12g.47977967C>TCA2618499215COL2A1c.2904+43G>A (n.2904+43G>A)
c.3111+43G>A (n.3111+43G>A)
n.2197+43G>A
c.3255+43G>A (n.3255+43G>A)
c.3252+43G>A (n.3252+43G>A)
c.2199+43G>A (n.2199+43G>A)
c.3045+43G>A (n.3045+43G>A)
c.2565+43G>A (n.2565+43G>A)
 gnomAD v4
12g.47977968C>ACA2795861436COL2A1c.2904+42G>T (n.2904+42G>T)
c.3111+42G>T (n.3111+42G>T)
n.2197+42G>T
c.3255+42G>T (n.3255+42G>T)
c.3252+42G>T (n.3252+42G>T)
c.2199+42G>T (n.2199+42G>T)
c.3045+42G>T (n.3045+42G>T)
c.2565+42G>T (n.2565+42G>T)
12g.47977968C=CA2034476661COL2A1c.2904+42G= (n.2904+42G=)
c.3111+42G= (n.3111+42G=)
n.2197+42G=
c.3255+42G= (n.3255+42G=)
c.3252+42G= (n.3252+42G=)
c.2199+42G= (n.2199+42G=)
c.3045+42G= (n.3045+42G=)
c.2565+42G= (n.2565+42G=)
12g.47977968C>GCA604848800COL2A1c.2904+42G>C (n.2904+42G>C)
c.3111+42G>C (n.3111+42G>C)
n.2197+42G>C
c.3255+42G>C (n.3255+42G>C)
c.3252+42G>C (n.3252+42G>C)
c.2199+42G>C (n.2199+42G>C)
c.3045+42G>C (n.3045+42G>C)
c.2565+42G>C (n.2565+42G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47977968C>TCA6534887COL2A1c.2904+42G>A (n.2904+42G>A)
c.3111+42G>A (n.3111+42G>A)
n.2197+42G>A
c.3255+42G>A (n.3255+42G>A)
c.3252+42G>A (n.3252+42G>A)
c.2199+42G>A (n.2199+42G>A)
c.3045+42G>A (n.3045+42G>A)
c.2565+42G>A (n.2565+42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977969T>GCA689437062COL2A1c.2904+41A>C (n.2904+41A>C)
c.3111+41A>C (n.3111+41A>C)
n.2197+41A>C
c.3255+41A>C (n.3255+41A>C)
c.3252+41A>C (n.3252+41A>C)
c.2199+41A>C (n.2199+41A>C)
c.3045+41A>C (n.3045+41A>C)
c.2565+41A>C (n.2565+41A>C)
 dbSNP
12g.47977969T=CA2034476662COL2A1c.2904+41A= (n.2904+41A=)
c.3111+41A= (n.3111+41A=)
n.2197+41A=
c.3255+41A= (n.3255+41A=)
c.3252+41A= (n.3252+41A=)
c.2199+41A= (n.2199+41A=)
c.3045+41A= (n.3045+41A=)
c.2565+41A= (n.2565+41A=)
12g.47977970C>ACA689437063COL2A1c.2904+40G>T (n.2904+40G>T)
c.3111+40G>T (n.3111+40G>T)
n.2197+40G>T
c.3255+40G>T (n.3255+40G>T)
c.3252+40G>T (n.3252+40G>T)
c.2199+40G>T (n.2199+40G>T)
c.3045+40G>T (n.3045+40G>T)
c.2565+40G>T (n.2565+40G>T)
 dbSNP
12g.47977970C=CA2034476663COL2A1c.2904+40G= (n.2904+40G=)
c.3111+40G= (n.3111+40G=)
n.2197+40G=
c.3255+40G= (n.3255+40G=)
c.3252+40G= (n.3252+40G=)
c.2199+40G= (n.2199+40G=)
c.3045+40G= (n.3045+40G=)
c.2565+40G= (n.2565+40G=)
12g.47977970C>GCA604848801COL2A1c.2904+40G>C (n.2904+40G>C)
c.3111+40G>C (n.3111+40G>C)
n.2197+40G>C
c.3255+40G>C (n.3255+40G>C)
c.3252+40G>C (n.3252+40G>C)
c.2199+40G>C (n.2199+40G>C)
c.3045+40G>C (n.3045+40G>C)
c.2565+40G>C (n.2565+40G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47977970C>TCA2618499237COL2A1c.2904+40G>A (n.2904+40G>A)
c.3111+40G>A (n.3111+40G>A)
n.2197+40G>A
c.3255+40G>A (n.3255+40G>A)
c.3252+40G>A (n.3252+40G>A)
c.2199+40G>A (n.2199+40G>A)
c.3045+40G>A (n.3045+40G>A)
c.2565+40G>A (n.2565+40G>A)
 gnomAD v4
12g.47977972C=CA2034476664COL2A1c.2904+38G= (n.2904+38G=)
c.3111+38G= (n.3111+38G=)
n.2197+38G=
c.3255+38G= (n.3255+38G=)
c.3252+38G= (n.3252+38G=)
c.2199+38G= (n.2199+38G=)
c.3045+38G= (n.3045+38G=)
c.2565+38G= (n.2565+38G=)
12g.47977972C>TCA604848802COL2A1c.2904+38G>A (n.2904+38G>A)
c.3111+38G>A (n.3111+38G>A)
n.2197+38G>A
c.3255+38G>A (n.3255+38G>A)
c.3252+38G>A (n.3252+38G>A)
c.2199+38G>A (n.2199+38G>A)
c.3045+38G>A (n.3045+38G>A)
c.2565+38G>A (n.2565+38G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.47977974C>ACA2618499239COL2A1c.2904+36G>T (n.2904+36G>T)
c.3111+36G>T (n.3111+36G>T)
n.2197+36G>T
c.3255+36G>T (n.3255+36G>T)
c.3252+36G>T (n.3252+36G>T)
c.2199+36G>T (n.2199+36G>T)
c.3045+36G>T (n.3045+36G>T)
c.2565+36G>T (n.2565+36G>T)
 gnomAD v4
12g.47977974C>TCA2726226022COL2A1c.2904+36G>A (n.2904+36G>A)
c.3111+36G>A (n.3111+36G>A)
n.2197+36G>A
c.3255+36G>A (n.3255+36G>A)
c.3252+36G>A (n.3252+36G>A)
c.2199+36G>A (n.2199+36G>A)
c.3045+36G>A (n.3045+36G>A)
c.2565+36G>A (n.2565+36G>A)
 dbSNP
12g.47977975C>ACA2618499245COL2A1c.2904+35G>T (n.2904+35G>T)
c.3111+35G>T (n.3111+35G>T)
n.2197+35G>T
c.3255+35G>T (n.3255+35G>T)
c.3252+35G>T (n.3252+35G>T)
c.2199+35G>T (n.2199+35G>T)
c.3045+35G>T (n.3045+35G>T)
c.2565+35G>T (n.2565+35G>T)
 gnomAD v4
12g.47977975C=CA2034476665COL2A1c.2904+35G= (n.2904+35G=)
c.3111+35G= (n.3111+35G=)
n.2197+35G=
c.3255+35G= (n.3255+35G=)
c.3252+35G= (n.3252+35G=)
c.2199+35G= (n.2199+35G=)
c.3045+35G= (n.3045+35G=)
c.2565+35G= (n.2565+35G=)
12g.47977975C>GCA236521515COL2A1c.2904+35G>C (n.2904+35G>C)
c.3111+35G>C (n.3111+35G>C)
n.2197+35G>C
c.3255+35G>C (n.3255+35G>C)
c.3252+35G>C (n.3252+35G>C)
c.2199+35G>C (n.2199+35G>C)
c.3045+35G>C (n.3045+35G>C)
c.2565+35G>C (n.2565+35G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977975C>TCA604848804COL2A1c.2904+35G>A (n.2904+35G>A)
c.3111+35G>A (n.3111+35G>A)
n.2197+35G>A
c.3255+35G>A (n.3255+35G>A)
c.3252+35G>A (n.3252+35G>A)
c.2199+35G>A (n.2199+35G>A)
c.3045+35G>A (n.3045+35G>A)
c.2565+35G>A (n.2565+35G>A)
 dbSNP gnomAD v2
12g.47977977A=CA2034476666COL2A1c.2904+33T= (n.2904+33T=)
c.3111+33T= (n.3111+33T=)
n.2197+33T=
c.3255+33T= (n.3255+33T=)
c.3252+33T= (n.3252+33T=)
c.2199+33T= (n.2199+33T=)
c.3045+33T= (n.3045+33T=)
c.2565+33T= (n.2565+33T=)
12g.47977977A>CCA2618499258COL2A1c.2904+33T>G (n.2904+33T>G)
c.3111+33T>G (n.3111+33T>G)
n.2197+33T>G
c.3255+33T>G (n.3255+33T>G)
c.3252+33T>G (n.3252+33T>G)
c.2199+33T>G (n.2199+33T>G)
c.3045+33T>G (n.3045+33T>G)
c.2565+33T>G (n.2565+33T>G)
 gnomAD v4
12g.47977977A>GCA6534888COL2A1c.2904+33T>C (n.2904+33T>C)
c.3111+33T>C (n.3111+33T>C)
n.2197+33T>C
c.3255+33T>C (n.3255+33T>C)
c.3252+33T>C (n.3252+33T>C)
c.2199+33T>C (n.2199+33T>C)
c.3045+33T>C (n.3045+33T>C)
c.2565+33T>C (n.2565+33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977977A>TCA2618499250COL2A1c.2904+33T>A (n.2904+33T>A)
c.3111+33T>A (n.3111+33T>A)
n.2197+33T>A
c.3255+33T>A (n.3255+33T>A)
c.3252+33T>A (n.3252+33T>A)
c.2199+33T>A (n.2199+33T>A)
c.3045+33T>A (n.3045+33T>A)
c.2565+33T>A (n.2565+33T>A)
 gnomAD v4
12g.47977979C=CA2034476667COL2A1c.2904+31G= (n.2904+31G=)
c.3111+31G= (n.3111+31G=)
n.2197+31G=
c.3255+31G= (n.3255+31G=)
c.3252+31G= (n.3252+31G=)
c.2199+31G= (n.2199+31G=)
c.3045+31G= (n.3045+31G=)
c.2565+31G= (n.2565+31G=)
12g.47977979C>TCA6534889COL2A1c.2904+31G>A (n.2904+31G>A)
c.3111+31G>A (n.3111+31G>A)
n.2197+31G>A
c.3255+31G>A (n.3255+31G>A)
c.3252+31G>A (n.3252+31G>A)
c.2199+31G>A (n.2199+31G>A)
c.3045+31G>A (n.3045+31G>A)
c.2565+31G>A (n.2565+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977981G>CCA2575137357COL2A1c.2904+29C>G (n.2904+29C>G)
c.3111+29C>G (n.3111+29C>G)
n.2197+29C>G
c.3255+29C>G (n.3255+29C>G)
c.3252+29C>G (n.3252+29C>G)
c.2199+29C>G (n.2199+29C>G)
c.3045+29C>G (n.3045+29C>G)
c.2565+29C>G (n.2565+29C>G)
12g.47977981G>TCA2618499267COL2A1c.2904+29C>A (n.2904+29C>A)
c.3111+29C>A (n.3111+29C>A)
n.2197+29C>A
c.3255+29C>A (n.3255+29C>A)
c.3252+29C>A (n.3252+29C>A)
c.2199+29C>A (n.2199+29C>A)
c.3045+29C>A (n.3045+29C>A)
c.2565+29C>A (n.2565+29C>A)
 gnomAD v4
12g.47977982G>ACA604848808COL2A1c.2904+28C>T (n.2904+28C>T)
c.3111+28C>T (n.3111+28C>T)
n.2197+28C>T
c.3255+28C>T (n.3255+28C>T)
c.3252+28C>T (n.3252+28C>T)
c.2199+28C>T (n.2199+28C>T)
c.3045+28C>T (n.3045+28C>T)
c.2565+28C>T (n.2565+28C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47977982G=CA2034476668COL2A1c.2904+28C= (n.2904+28C=)
c.3111+28C= (n.3111+28C=)
n.2197+28C=
c.3255+28C= (n.3255+28C=)
c.3252+28C= (n.3252+28C=)
c.2199+28C= (n.2199+28C=)
c.3045+28C= (n.3045+28C=)
c.2565+28C= (n.2565+28C=)
12g.47977982G>TCA6534890COL2A1c.2904+28C>A (n.2904+28C>A)
c.3111+28C>A (n.3111+28C>A)
n.2197+28C>A
c.3255+28C>A (n.3255+28C>A)
c.3252+28C>A (n.3252+28C>A)
c.2199+28C>A (n.2199+28C>A)
c.3045+28C>A (n.3045+28C>A)
c.2565+28C>A (n.2565+28C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977983G>ACA604848809COL2A1c.2904+27C>T (n.2904+27C>T)
c.3111+27C>T (n.3111+27C>T)
n.2197+27C>T
c.3255+27C>T (n.3255+27C>T)
c.3252+27C>T (n.3252+27C>T)
c.2199+27C>T (n.2199+27C>T)
c.3045+27C>T (n.3045+27C>T)
c.2565+27C>T (n.2565+27C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47977983G=CA2034476669COL2A1c.2904+27C= (n.2904+27C=)
c.3111+27C= (n.3111+27C=)
n.2197+27C=
c.3255+27C= (n.3255+27C=)
c.3252+27C= (n.3252+27C=)
c.2199+27C= (n.2199+27C=)
c.3045+27C= (n.3045+27C=)
c.2565+27C= (n.2565+27C=)
12g.47977984C>ACA2581084972COL2A1c.2904+26G>T (n.2904+26G>T)
c.3111+26G>T (n.3111+26G>T)
n.2197+26G>T
c.3255+26G>T (n.3255+26G>T)
c.3252+26G>T (n.3252+26G>T)
c.2199+26G>T (n.2199+26G>T)
c.3045+26G>T (n.3045+26G>T)
c.2565+26G>T (n.2565+26G>T)
12g.47977984C=CA2034476670COL2A1c.2904+26G= (n.2904+26G=)
c.3111+26G= (n.3111+26G=)
n.2197+26G=
c.3255+26G= (n.3255+26G=)
c.3252+26G= (n.3252+26G=)
c.2199+26G= (n.2199+26G=)
c.3045+26G= (n.3045+26G=)
c.2565+26G= (n.2565+26G=)
12g.47977984C>GCA2581084971COL2A1c.2904+26G>C (n.2904+26G>C)
c.3111+26G>C (n.3111+26G>C)
n.2197+26G>C
c.3255+26G>C (n.3255+26G>C)
c.3252+26G>C (n.3252+26G>C)
c.2199+26G>C (n.2199+26G>C)
c.3045+26G>C (n.3045+26G>C)
c.2565+26G>C (n.2565+26G>C)
 gnomAD v4
12g.47977984C>TCA6534891COL2A1c.2904+26G>A (n.2904+26G>A)
c.3111+26G>A (n.3111+26G>A)
n.2197+26G>A
c.3255+26G>A (n.3255+26G>A)
c.3252+26G>A (n.3252+26G>A)
c.2199+26G>A (n.2199+26G>A)
c.3045+26G>A (n.3045+26G>A)
c.2565+26G>A (n.2565+26G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977987_47977991delCA2618499279COL2A1c.2904+22_2904+26del (n.2904+22_2904+26del)
c.3111+22_3111+26del (n.3111+22_3111+26del)
n.2197+22_2197+26del
c.3255+22_3255+26del (n.3255+22_3255+26del)
c.3252+22_3252+26del (n.3252+22_3252+26del)
c.2199+22_2199+26del (n.2199+22_2199+26del)
c.3045+22_3045+26del (n.3045+22_3045+26del)
c.2565+22_2565+26del (n.2565+22_2565+26del)
 gnomAD v4
12g.47977985C>ACA2618499284COL2A1c.2904+25G>T (n.2904+25G>T)
c.3111+25G>T (n.3111+25G>T)
n.2197+25G>T
c.3255+25G>T (n.3255+25G>T)
c.3252+25G>T (n.3252+25G>T)
c.2199+25G>T (n.2199+25G>T)
c.3045+25G>T (n.3045+25G>T)
c.2565+25G>T (n.2565+25G>T)
 gnomAD v4
12g.47977985C>GCA2618499285COL2A1c.2904+25G>C (n.2904+25G>C)
c.3111+25G>C (n.3111+25G>C)
n.2197+25G>C
c.3255+25G>C (n.3255+25G>C)
c.3252+25G>C (n.3252+25G>C)
c.2199+25G>C (n.2199+25G>C)
c.3045+25G>C (n.3045+25G>C)
c.2565+25G>C (n.2565+25G>C)
 gnomAD v4
12g.47977986A>GCA2618499286COL2A1c.2904+24T>C (n.2904+24T>C)
c.3111+24T>C (n.3111+24T>C)
n.2197+24T>C
c.3255+24T>C (n.3255+24T>C)
c.3252+24T>C (n.3252+24T>C)
c.2199+24T>C (n.2199+24T>C)
c.3045+24T>C (n.3045+24T>C)
c.2565+24T>C (n.2565+24T>C)
 gnomAD v4
12g.47977986_47977987delinsACCA2034476671COL2A1c.2904+23_2904+24delinsGT (n.2904+23_2904+24delinsGT)
c.3111+23_3111+24delinsGT (n.3111+23_3111+24delinsGT)
n.2197+23_2197+24delinsGT
c.3255+23_3255+24delinsGT (n.3255+23_3255+24delinsGT)
c.3252+23_3252+24delinsGT (n.3252+23_3252+24delinsGT)
c.2199+23_2199+24delinsGT (n.2199+23_2199+24delinsGT)
c.3045+23_3045+24delinsGT (n.3045+23_3045+24delinsGT)
c.2565+23_2565+24delinsGT (n.2565+23_2565+24delinsGT)
12g.47977987C>ACA2618499297COL2A1c.2904+23G>T (n.2904+23G>T)
c.3111+23G>T (n.3111+23G>T)
n.2197+23G>T
c.3255+23G>T (n.3255+23G>T)
c.3252+23G>T (n.3252+23G>T)
c.2199+23G>T (n.2199+23G>T)
c.3045+23G>T (n.3045+23G>T)
c.2565+23G>T (n.2565+23G>T)
 gnomAD v4
12g.47977987C=CA2034476672COL2A1c.2904+23G= (n.2904+23G=)
c.3111+23G= (n.3111+23G=)
n.2197+23G=
c.3255+23G= (n.3255+23G=)
c.3252+23G= (n.3252+23G=)
c.2199+23G= (n.2199+23G=)
c.3045+23G= (n.3045+23G=)
c.2565+23G= (n.2565+23G=)
12g.47977987C>TCA6534892COL2A1c.2904+23G>A (n.2904+23G>A)
c.3111+23G>A (n.3111+23G>A)
n.2197+23G>A
c.3255+23G>A (n.3255+23G>A)
c.3252+23G>A (n.3252+23G>A)
c.2199+23G>A (n.2199+23G>A)
c.3045+23G>A (n.3045+23G>A)
c.2565+23G>A (n.2565+23G>A)
 dbSNP ExAC gnomAD v2
12g.47977990delCA604848811COL2A1c.2904+23del (n.2904+23del)
c.3111+23del (n.3111+23del)
n.2197+23del
c.3255+23del (n.3255+23del)
c.3252+23del (n.3252+23del)
c.2199+23del (n.2199+23del)
c.3045+23del (n.3045+23del)
c.2565+23del (n.2565+23del)
 dbSNP gnomAD v2
12g.47977988C>ACA604848812COL2A1c.2904+22G>T (n.2904+22G>T)
c.3111+22G>T (n.3111+22G>T)
n.2197+22G>T
c.3255+22G>T (n.3255+22G>T)
c.3252+22G>T (n.3252+22G>T)
c.2199+22G>T (n.2199+22G>T)
c.3045+22G>T (n.3045+22G>T)
c.2565+22G>T (n.2565+22G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47977988C=CA2034476673COL2A1c.2904+22G= (n.2904+22G=)
c.3111+22G= (n.3111+22G=)
n.2197+22G=
c.3255+22G= (n.3255+22G=)
c.3252+22G= (n.3252+22G=)
c.2199+22G= (n.2199+22G=)
c.3045+22G= (n.3045+22G=)
c.2565+22G= (n.2565+22G=)
12g.47977988C>GCA6534893COL2A1c.2904+22G>C (n.2904+22G>C)
c.3111+22G>C (n.3111+22G>C)
n.2197+22G>C
c.3255+22G>C (n.3255+22G>C)
c.3252+22G>C (n.3252+22G>C)
c.2199+22G>C (n.2199+22G>C)
c.3045+22G>C (n.3045+22G>C)
c.2565+22G>C (n.2565+22G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977991_47977992delinsAGCA2034476674COL2A1c.2904+18_2904+19delinsCT (n.2904+18_2904+19delinsCT)
c.3111+18_3111+19delinsCT (n.3111+18_3111+19delinsCT)
n.2197+18_2197+19delinsCT
c.3255+18_3255+19delinsCT (n.3255+18_3255+19delinsCT)
c.3252+18_3252+19delinsCT (n.3252+18_3252+19delinsCT)
c.2199+18_2199+19delinsCT (n.2199+18_2199+19delinsCT)
c.3045+18_3045+19delinsCT (n.3045+18_3045+19delinsCT)
c.2565+18_2565+19delinsCT (n.2565+18_2565+19delinsCT)
12g.47977992G>ACA6534895COL2A1c.2904+18C>T (n.2904+18C>T)
c.3111+18C>T (n.3111+18C>T)
n.2197+18C>T
c.3255+18C>T (n.3255+18C>T)
c.3252+18C>T (n.3252+18C>T)
c.2199+18C>T (n.2199+18C>T)
c.3045+18C>T (n.3045+18C>T)
c.2565+18C>T (n.2565+18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.47977992G>CCA2618499314COL2A1c.2904+18C>G (n.2904+18C>G)
c.3111+18C>G (n.3111+18C>G)
n.2197+18C>G
c.3255+18C>G (n.3255+18C>G)
c.3252+18C>G (n.3252+18C>G)
c.2199+18C>G (n.2199+18C>G)
c.3045+18C>G (n.3045+18C>G)
c.2565+18C>G (n.2565+18C>G)
 gnomAD v4
12g.47977992G=CA2034476675COL2A1c.2904+18C= (n.2904+18C=)
c.3111+18C= (n.3111+18C=)
n.2197+18C=
c.3255+18C= (n.3255+18C=)
c.3252+18C= (n.3252+18C=)
c.2199+18C= (n.2199+18C=)
c.3045+18C= (n.3045+18C=)
c.2565+18C= (n.2565+18C=)
12g.47977996delCA6534894COL2A1c.2904+18del (n.2904+18del)
c.3111+18del (n.3111+18del)
n.2197+18del
c.3255+18del (n.3255+18del)
c.3252+18del (n.3252+18del)
c.2199+18del (n.2199+18del)
c.3045+18del (n.3045+18del)
c.2565+18del (n.2565+18del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977993G>ACA6534896COL2A1c.2904+17C>T (n.2904+17C>T)
c.3111+17C>T (n.3111+17C>T)
n.2197+17C>T
c.3255+17C>T (n.3255+17C>T)
c.3252+17C>T (n.3252+17C>T)
c.2199+17C>T (n.2199+17C>T)
c.3045+17C>T (n.3045+17C>T)
c.2565+17C>T (n.2565+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977993G>CCA2618499319COL2A1c.2904+17C>G (n.2904+17C>G)
c.3111+17C>G (n.3111+17C>G)
n.2197+17C>G
c.3255+17C>G (n.3255+17C>G)
c.3252+17C>G (n.3252+17C>G)
c.2199+17C>G (n.2199+17C>G)
c.3045+17C>G (n.3045+17C>G)
c.2565+17C>G (n.2565+17C>G)
 gnomAD v4
12g.47977993G=CA2034476676COL2A1c.2904+17C= (n.2904+17C=)
c.3111+17C= (n.3111+17C=)
n.2197+17C=
c.3255+17C= (n.3255+17C=)
c.3252+17C= (n.3252+17C=)
c.2199+17C= (n.2199+17C=)
c.3045+17C= (n.3045+17C=)
c.2565+17C= (n.2565+17C=)
12g.47977993G>TCA2795861445COL2A1c.2904+17C>A (n.2904+17C>A)
c.3111+17C>A (n.3111+17C>A)
n.2197+17C>A
c.3255+17C>A (n.3255+17C>A)
c.3252+17C>A (n.3252+17C>A)
c.2199+17C>A (n.2199+17C>A)
c.3045+17C>A (n.3045+17C>A)
c.2565+17C>A (n.2565+17C>A)
12g.47977994G>ACA604848818COL2A1c.2904+16C>T (n.2904+16C>T)
c.3111+16C>T (n.3111+16C>T)
n.2197+16C>T
c.3255+16C>T (n.3255+16C>T)
c.3252+16C>T (n.3252+16C>T)
c.2199+16C>T (n.2199+16C>T)
c.3045+16C>T (n.3045+16C>T)
c.2565+16C>T (n.2565+16C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47977994G=CA2034476677COL2A1c.2904+16C= (n.2904+16C=)
c.3111+16C= (n.3111+16C=)
n.2197+16C=
c.3255+16C= (n.3255+16C=)
c.3252+16C= (n.3252+16C=)
c.2199+16C= (n.2199+16C=)
c.3045+16C= (n.3045+16C=)
c.2565+16C= (n.2565+16C=)
12g.47977994G>TCA236521557COL2A1c.2904+16C>A (n.2904+16C>A)
c.3111+16C>A (n.3111+16C>A)
n.2197+16C>A
c.3255+16C>A (n.3255+16C>A)
c.3252+16C>A (n.3252+16C>A)
c.2199+16C>A (n.2199+16C>A)
c.3045+16C>A (n.3045+16C>A)
c.2565+16C>A (n.2565+16C>A)
 dbSNP gnomAD v4
12g.47977995G>ACA604848819COL2A1c.2904+15C>T (n.2904+15C>T)
c.3111+15C>T (n.3111+15C>T)
n.2197+15C>T
c.3255+15C>T (n.3255+15C>T)
c.3252+15C>T (n.3252+15C>T)
c.2199+15C>T (n.2199+15C>T)
c.3045+15C>T (n.3045+15C>T)
c.2565+15C>T (n.2565+15C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47977995G>CCA236521559COL2A1c.2904+15C>G (n.2904+15C>G)
c.3111+15C>G (n.3111+15C>G)
n.2197+15C>G
c.3255+15C>G (n.3255+15C>G)
c.3252+15C>G (n.3252+15C>G)
c.2199+15C>G (n.2199+15C>G)
c.3045+15C>G (n.3045+15C>G)
c.2565+15C>G (n.2565+15C>G)
 ClinVar dbSNP
12g.47977995G=CA2034476678COL2A1c.2904+15C= (n.2904+15C=)
c.3111+15C= (n.3111+15C=)
n.2197+15C=
c.3255+15C= (n.3255+15C=)
c.3252+15C= (n.3252+15C=)
c.2199+15C= (n.2199+15C=)
c.3045+15C= (n.3045+15C=)
c.2565+15C= (n.2565+15C=)
12g.47977995G>TCA236521561COL2A1c.2904+15C>A (n.2904+15C>A)
c.3111+15C>A (n.3111+15C>A)
n.2197+15C>A
c.3255+15C>A (n.3255+15C>A)
c.3252+15C>A (n.3252+15C>A)
c.2199+15C>A (n.2199+15C>A)
c.3045+15C>A (n.3045+15C>A)
c.2565+15C>A (n.2565+15C>A)
 dbSNP gnomAD v4 COSMIC
12g.47977996G>ACA947351971COL2A1c.2904+14C>T (n.2904+14C>T)
c.3111+14C>T (n.3111+14C>T)
n.2197+14C>T
c.3255+14C>T (n.3255+14C>T)
c.3252+14C>T (n.3252+14C>T)
c.2199+14C>T (n.2199+14C>T)
c.3045+14C>T (n.3045+14C>T)
c.2565+14C>T (n.2565+14C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.47977996G=CA2034476679COL2A1c.2904+14C= (n.2904+14C=)
c.3111+14C= (n.3111+14C=)
n.2197+14C=
c.3255+14C= (n.3255+14C=)
c.3252+14C= (n.3252+14C=)
c.2199+14C= (n.2199+14C=)
c.3045+14C= (n.3045+14C=)
c.2565+14C= (n.2565+14C=)
12g.47977996G>TCA947351972COL2A1c.2904+14C>A (n.2904+14C>A)
c.3111+14C>A (n.3111+14C>A)
n.2197+14C>A
c.3255+14C>A (n.3255+14C>A)
c.3252+14C>A (n.3252+14C>A)
c.2199+14C>A (n.2199+14C>A)
c.3045+14C>A (n.3045+14C>A)
c.2565+14C>A (n.2565+14C>A)
 dbSNP gnomAD v3 gnomAD v4
12g.47977997T>ACA6534897COL2A1c.2904+13A>T (n.2904+13A>T)
c.3111+13A>T (n.3111+13A>T)
n.2197+13A>T
c.3255+13A>T (n.3255+13A>T)
c.3252+13A>T (n.3252+13A>T)
c.2199+13A>T (n.2199+13A>T)
c.3045+13A>T (n.3045+13A>T)
c.2565+13A>T (n.2565+13A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977997T=CA2034476680COL2A1c.2904+13A= (n.2904+13A=)
c.3111+13A= (n.3111+13A=)
n.2197+13A=
c.3255+13A= (n.3255+13A=)
c.3252+13A= (n.3252+13A=)
c.2199+13A= (n.2199+13A=)
c.3045+13A= (n.3045+13A=)
c.2565+13A= (n.2565+13A=)
12g.47978001A=CA2034476681COL2A1c.2904+9T= (n.2904+9T=)
c.3111+9T= (n.3111+9T=)
n.2197+9T=
c.3255+9T= (n.3255+9T=)
c.3252+9T= (n.3252+9T=)
c.2199+9T= (n.2199+9T=)
c.3045+9T= (n.3045+9T=)
c.2565+9T= (n.2565+9T=)
12g.47978001A>GCA236521568COL2A1c.2904+9T>C (n.2904+9T>C)
c.3111+9T>C (n.3111+9T>C)
n.2197+9T>C
c.3255+9T>C (n.3255+9T>C)
c.3252+9T>C (n.3252+9T>C)
c.2199+9T>C (n.2199+9T>C)
c.3045+9T>C (n.3045+9T>C)
c.2565+9T>C (n.2565+9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47978002C=CA2034476682COL2A1c.2904+8G= (n.2904+8G=)
c.3111+8G= (n.3111+8G=)
n.2197+8G=
c.3255+8G= (n.3255+8G=)
c.3252+8G= (n.3252+8G=)
c.2199+8G= (n.2199+8G=)
c.3045+8G= (n.3045+8G=)
c.2565+8G= (n.2565+8G=)
12g.47978002C>GCA604848820COL2A1c.2904+8G>C (n.2904+8G>C)
c.3111+8G>C (n.3111+8G>C)
n.2197+8G>C
c.3255+8G>C (n.3255+8G>C)
c.3252+8G>C (n.3252+8G>C)
c.2199+8G>C (n.2199+8G>C)
c.3045+8G>C (n.3045+8G>C)
c.2565+8G>C (n.2565+8G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47978003T>GCA2618499347COL2A1c.2904+7A>C (n.2904+7A>C)
c.3111+7A>C (n.3111+7A>C)
n.2197+7A>C
c.3255+7A>C (n.3255+7A>C)
c.3252+7A>C (n.3252+7A>C)
c.2199+7A>C (n.2199+7A>C)
c.3045+7A>C (n.3045+7A>C)
c.2565+7A>C (n.2565+7A>C)
 gnomAD v4
12g.47978004G=CA2034476683COL2A1c.2904+6C= (n.2904+6C=)
c.3111+6C= (n.3111+6C=)
n.2197+6C=
c.3255+6C= (n.3255+6C=)
c.3252+6C= (n.3252+6C=)
c.2199+6C= (n.2199+6C=)
c.3045+6C= (n.3045+6C=)
c.2565+6C= (n.2565+6C=)
12g.47978004G>TCA689437086COL2A1c.2904+6C>A (n.2904+6C>A)
c.3111+6C>A (n.3111+6C>A)
n.2197+6C>A
c.3255+6C>A (n.3255+6C>A)
c.3252+6C>A (n.3252+6C>A)
c.2199+6C>A (n.2199+6C>A)
c.3045+6C>A (n.3045+6C>A)
c.2565+6C>A (n.2565+6C>A)
 dbSNP gnomAD v4
12g.47978005C=CA2034476684COL2A1c.2904+5G= (n.2904+5G=)
c.3111+5G= (n.3111+5G=)
n.2197+5G=
c.3255+5G= (n.3255+5G=)
c.3252+5G= (n.3252+5G=)
c.2199+5G= (n.2199+5G=)
c.3045+5G= (n.3045+5G=)
c.2565+5G= (n.2565+5G=)
12g.47978005C>GCA604848821COL2A1c.2904+5G>C (n.2904+5G>C)
c.3111+5G>C (n.3111+5G>C)
n.2197+5G>C
c.3255+5G>C (n.3255+5G>C)
c.3252+5G>C (n.3252+5G>C)
c.2199+5G>C (n.2199+5G>C)
c.3045+5G>C (n.3045+5G>C)
c.2565+5G>C (n.2565+5G>C)
 dbSNP gnomAD v2
12g.47978005C>TCA604848823COL2A1c.2904+5G>A (n.2904+5G>A)
c.3111+5G>A (n.3111+5G>A)
n.2197+5G>A
c.3255+5G>A (n.3255+5G>A)
c.3252+5G>A (n.3252+5G>A)
c.2199+5G>A (n.2199+5G>A)
c.3045+5G>A (n.3045+5G>A)
c.2565+5G>A (n.2565+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47978008A=CA2034476685COL2A1c.2904+2T= (n.2904+2T=)
c.3111+2T= (n.3111+2T=)
n.2197+2T=
c.3255+2T= (n.3255+2T=)
c.3252+2T= (n.3252+2T=)
c.2199+2T= (n.2199+2T=)
c.3045+2T= (n.3045+2T=)
c.2565+2T= (n.2565+2T=)
12g.47978008A>CCA384540604COL2A1c.2904+2T>G (n.2904+2T>G)
c.3111+2T>G (n.3111+2T>G)
n.2197+2T>G
c.3255+2T>G (n.3255+2T>G)
c.3252+2T>G (n.3252+2T>G)
c.2199+2T>G (n.2199+2T>G)
c.3045+2T>G (n.3045+2T>G)
c.2565+2T>G (n.2565+2T>G)
12g.47978008A>GCA384540605COL2A1c.2904+2T>C (n.2904+2T>C)
c.3111+2T>C (n.3111+2T>C)
n.2197+2T>C
c.3255+2T>C (n.3255+2T>C)
c.3252+2T>C (n.3252+2T>C)
c.2199+2T>C (n.2199+2T>C)
c.3045+2T>C (n.3045+2T>C)
c.2565+2T>C (n.2565+2T>C)
 ClinVar dbSNP
12g.47978008A>TCA384540606COL2A1c.2904+2T>A (n.2904+2T>A)
c.3111+2T>A (n.3111+2T>A)
n.2197+2T>A
c.3255+2T>A (n.3255+2T>A)
c.3252+2T>A (n.3252+2T>A)
c.2199+2T>A (n.2199+2T>A)
c.3045+2T>A (n.3045+2T>A)
c.2565+2T>A (n.2565+2T>A)
 ClinVar
12g.47978009C>ACA384540609COL2A1c.2904+1G>T (n.2904+1G>T)
c.3111+1G>T (n.3111+1G>T)
n.2197+1G>T
c.3255+1G>T (n.3255+1G>T)
c.3252+1G>T (n.3252+1G>T)
c.2199+1G>T (n.2199+1G>T)
c.3045+1G>T (n.3045+1G>T)
c.2565+1G>T (n.2565+1G>T)
 ClinVar
12g.47978009C>GCA384540608COL2A1c.2904+1G>C (n.2904+1G>C)
c.3111+1G>C (n.3111+1G>C)
n.2197+1G>C
c.3255+1G>C (n.3255+1G>C)
c.3252+1G>C (n.3252+1G>C)
c.2199+1G>C (n.2199+1G>C)
c.3045+1G>C (n.3045+1G>C)
c.2565+1G>C (n.2565+1G>C)
12g.47978009C>TCA384540607COL2A1c.2904+1G>A (n.2904+1G>A)
c.3111+1G>A (n.3111+1G>A)
n.2197+1G>A
c.3255+1G>A (n.3255+1G>A)
c.3252+1G>A (n.3252+1G>A)
c.2199+1G>A (n.2199+1G>A)
c.3045+1G>A (n.3045+1G>A)
c.2565+1G>A (n.2565+1G>A)
12g.47978010C>ACA384540610COL2A1c.2904G>T (p.Glu968Asp)
c.3111G>T (p.Glu1037Asp)
n.2197G>T
c.3255G>T (p.Glu1085Asp)
c.3252G>T (p.Glu1084Asp)
c.2199G>T (p.Glu733Asp)
c.3045G>T (p.Glu1015Asp)
c.2565G>T (p.Glu855Asp)
12g.47978010C=CA2034476686COL2A1c.2904G= (p.Glu968=)
c.3111G= (p.Glu1037=)
n.2197G=
c.3255G= (p.Glu1085=)
c.3252G= (p.Glu1084=)
c.2199G= (p.Glu733=)
c.3045G= (p.Glu1015=)
c.2565G= (p.Glu855=)
12g.47978010C>GCA384540611COL2A1c.2904G>C (p.Glu968Asp)
c.3111G>C (p.Glu1037Asp)
n.2197G>C
c.3255G>C (p.Glu1085Asp)
c.3252G>C (p.Glu1084Asp)
c.2199G>C (p.Glu733Asp)
c.3045G>C (p.Glu1015Asp)
c.2565G>C (p.Glu855Asp)
12g.47978010C>TCA479454930COL2A1c.2904G>A (p.Glu968=)
c.3111G>A (p.Glu1037=)
n.2197G>A
c.3255G>A (p.Glu1085=)
c.3252G>A (p.Glu1084=)
c.2199G>A (p.Glu733=)
c.3045G>A (p.Glu1015=)
c.2565G>A (p.Glu855=)
 dbSNP gnomAD v4
12g.47978011T>ACA384540612COL2A1c.2903A>T (p.Glu968Val)
c.3110A>T (p.Glu1037Val)
n.2196A>T
c.3254A>T (p.Glu1085Val)
c.3251A>T (p.Glu1084Val)
c.2198A>T (p.Glu733Val)
c.3044A>T (p.Glu1015Val)
c.2564A>T (p.Glu855Val)
12g.47978011T>CCA384540613COL2A1c.2903A>G (p.Glu968Gly)
c.3110A>G (p.Glu1037Gly)
n.2196A>G
c.3254A>G (p.Glu1085Gly)
c.3251A>G (p.Glu1084Gly)
c.2198A>G (p.Glu733Gly)
c.3044A>G (p.Glu1015Gly)
c.2564A>G (p.Glu855Gly)
12g.47978011T>GCA384540614COL2A1c.2903A>C (p.Glu968Ala)
c.3110A>C (p.Glu1037Ala)
n.2196A>C
c.3254A>C (p.Glu1085Ala)
c.3251A>C (p.Glu1084Ala)
c.2198A>C (p.Glu733Ala)
c.3044A>C (p.Glu1015Ala)
c.2564A>C (p.Glu855Ala)
12g.47978012C>ACA384540615COL2A1c.2902G>T (p.Glu968Ter)
c.3109G>T (p.Glu1037Ter)
n.2195G>T
c.3253G>T (p.Glu1085Ter)
c.3250G>T (p.Glu1084Ter)
c.2197G>T (p.Glu733Ter)
c.3043G>T (p.Glu1015Ter)
c.2563G>T (p.Glu855Ter)
12g.47978012C>GCA384540616COL2A1c.2902G>C (p.Glu968Gln)
c.3109G>C (p.Glu1037Gln)
n.2195G>C
c.3253G>C (p.Glu1085Gln)
c.3250G>C (p.Glu1084Gln)
c.2197G>C (p.Glu733Gln)
c.3043G>C (p.Glu1015Gln)
c.2563G>C (p.Glu855Gln)
12g.47978012C>TCA384540617COL2A1c.2902G>A (p.Glu968Lys)
c.3109G>A (p.Glu1037Lys)
n.2195G>A
c.3253G>A (p.Glu1085Lys)
c.3250G>A (p.Glu1084Lys)
c.2197G>A (p.Glu733Lys)
c.3043G>A (p.Glu1015Lys)
c.2563G>A (p.Glu855Lys)
12g.47978013T>ACA479454938COL2A1c.2901A>T (p.Arg967=)
c.3108A>T (p.Arg1036=)
n.2194A>T
c.3252A>T (p.Arg1084=)
c.3249A>T (p.Arg1083=)
c.2196A>T (p.Arg732=)
c.3042A>T (p.Arg1014=)
c.2562A>T (p.Arg854=)
12g.47978013T>CCA479454940COL2A1c.2901A>G (p.Arg967=)
c.3108A>G (p.Arg1036=)
n.2194A>G
c.3252A>G (p.Arg1084=)
c.3249A>G (p.Arg1083=)
c.2196A>G (p.Arg732=)
c.3042A>G (p.Arg1014=)
c.2562A>G (p.Arg854=)
12g.47978013T>GCA479454942COL2A1c.2901A>C (p.Arg967=)
c.3108A>C (p.Arg1036=)
n.2194A>C
c.3252A>C (p.Arg1084=)
c.3249A>C (p.Arg1083=)
c.2196A>C (p.Arg732=)
c.3042A>C (p.Arg1014=)
c.2562A>C (p.Arg854=)
12g.47978014C>ACA384540618COL2A1c.2900G>T (p.Arg967Leu)
c.3107G>T (p.Arg1036Leu)
n.2193G>T
c.3251G>T (p.Arg1084Leu)
c.3248G>T (p.Arg1083Leu)
c.2195G>T (p.Arg732Leu)
c.3041G>T (p.Arg1014Leu)
c.2561G>T (p.Arg854Leu)
 ClinVar dbSNP gnomAD v4
12g.47978014C=CA2034476687COL2A1c.2900G= (p.Arg967=)
c.3107G= (p.Arg1036=)
n.2193G=
c.3251G= (p.Arg1084=)
c.3248G= (p.Arg1083=)
c.2195G= (p.Arg732=)
c.3041G= (p.Arg1014=)
c.2561G= (p.Arg854=)
12g.47978014C>GCA384540619COL2A1c.2900G>C (p.Arg967Pro)
c.3107G>C (p.Arg1036Pro)
n.2193G>C
c.3251G>C (p.Arg1084Pro)
c.3248G>C (p.Arg1083Pro)
c.2195G>C (p.Arg732Pro)
c.3041G>C (p.Arg1014Pro)
c.2561G>C (p.Arg854Pro)
12g.47978014C>TCA6534898COL2A1c.2900G>A (p.Arg967Gln)
c.3107G>A (p.Arg1036Gln)
n.2193G>A
c.3251G>A (p.Arg1084Gln)
c.3248G>A (p.Arg1083Gln)
c.2195G>A (p.Arg732Gln)
c.3041G>A (p.Arg1014Gln)
c.2561G>A (p.Arg854Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47978015G>ACA303000COL2A1c.2899C>T (p.Arg967Ter)
c.3106C>T (p.Arg1036Ter)
n.2192C>T
c.3250C>T (p.Arg1084Ter)
c.3247C>T (p.Arg1083Ter)
c.2194C>T (p.Arg732Ter)
c.3040C>T (p.Arg1014Ter)
c.2560C>T (p.Arg854Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.47978015G>CCA6534899COL2A1c.2899C>G (p.Arg967Gly)
c.3106C>G (p.Arg1036Gly)
n.2192C>G
c.3250C>G (p.Arg1084Gly)
c.3247C>G (p.Arg1083Gly)
c.2194C>G (p.Arg732Gly)
c.3040C>G (p.Arg1014Gly)
c.2560C>G (p.Arg854Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47978015G=CA2034476688COL2A1c.2899C= (p.Arg967=)
c.3106C= (p.Arg1036=)
n.2192C=
c.3250C= (p.Arg1084=)
c.3247C= (p.Arg1083=)
c.2194C= (p.Arg732=)
c.3040C= (p.Arg1014=)
c.2560C= (p.Arg854=)
12g.47978015G>TCA479454950COL2A1c.2899C>A (p.Arg967=)
c.3106C>A (p.Arg1036=)
n.2192C>A
c.3250C>A (p.Arg1084=)
c.3247C>A (p.Arg1083=)
c.2194C>A (p.Arg732=)
c.3040C>A (p.Arg1014=)
c.2560C>A (p.Arg854=)
12g.47978016T>ACA479454952COL2A1c.2898A>T (p.Gly966=)
c.3105A>T (p.Gly1035=)
n.2191A>T
c.3249A>T (p.Gly1083=)
c.3246A>T (p.Gly1082=)
c.2193A>T (p.Gly731=)
c.3039A>T (p.Gly1013=)
c.2559A>T (p.Gly853=)
12g.47978016T>CCA479454954COL2A1c.2898A>G (p.Gly966=)
c.3105A>G (p.Gly1035=)
n.2191A>G
c.3249A>G (p.Gly1083=)
c.3246A>G (p.Gly1082=)
c.2193A>G (p.Gly731=)
c.3039A>G (p.Gly1013=)
c.2559A>G (p.Gly853=)
 gnomAD v4
12g.47978016T>GCA479454956COL2A1c.2898A>C (p.Gly966=)
c.3105A>C (p.Gly1035=)
n.2191A>C
c.3249A>C (p.Gly1083=)
c.3246A>C (p.Gly1082=)
c.2193A>C (p.Gly731=)
c.3039A>C (p.Gly1013=)
c.2559A>C (p.Gly853=)
12g.47978017C>ACA384540622COL2A1c.2897G>T (p.Gly966Val)
c.3104G>T (p.Gly1035Val)
n.2190G>T
c.3248G>T (p.Gly1083Val)
c.3245G>T (p.Gly1082Val)
c.2192G>T (p.Gly731Val)
c.3038G>T (p.Gly1013Val)
c.2558G>T (p.Gly853Val)
12g.47978017C>GCA384540620COL2A1c.2897G>C (p.Gly966Ala)
c.3104G>C (p.Gly1035Ala)
n.2190G>C
c.3248G>C (p.Gly1083Ala)
c.3245G>C (p.Gly1082Ala)
c.2192G>C (p.Gly731Ala)
c.3038G>C (p.Gly1013Ala)
c.2558G>C (p.Gly853Ala)
12g.47978017C>TCA384540621COL2A1c.2897G>A (p.Gly966Glu)
c.3104G>A (p.Gly1035Glu)
n.2190G>A
c.3248G>A (p.Gly1083Glu)
c.3245G>A (p.Gly1082Glu)
c.2192G>A (p.Gly731Glu)
c.3038G>A (p.Gly1013Glu)
c.2558G>A (p.Gly853Glu)
12g.47978018C>ACA384540623COL2A1c.2896G>T (p.Gly966Ter)
c.3103G>T (p.Gly1035Ter)
n.2189G>T
c.3247G>T (p.Gly1083Ter)
c.3244G>T (p.Gly1082Ter)
c.2191G>T (p.Gly731Ter)
c.3037G>T (p.Gly1013Ter)
c.2557G>T (p.Gly853Ter)
12g.47978018C>GCA384540624COL2A1c.2896G>C (p.Gly966Arg)
c.3103G>C (p.Gly1035Arg)
n.2189G>C
c.3247G>C (p.Gly1083Arg)
c.3244G>C (p.Gly1082Arg)
c.2191G>C (p.Gly731Arg)
c.3037G>C (p.Gly1013Arg)
c.2557G>C (p.Gly853Arg)
12g.47978018C>TCA384540625COL2A1c.2896G>A (p.Gly966Arg)
c.3103G>A (p.Gly1035Arg)
n.2189G>A
c.3247G>A (p.Gly1083Arg)
c.3244G>A (p.Gly1082Arg)
c.2191G>A (p.Gly731Arg)
c.3037G>A (p.Gly1013Arg)
c.2557G>A (p.Gly853Arg)
12g.47978019A=CA2034476689COL2A1c.2895T= (p.Pro965=)
c.3102T= (p.Pro1034=)
n.2188T=
c.3246T= (p.Pro1082=)
c.3243T= (p.Pro1081=)
c.2190T= (p.Pro730=)
c.3036T= (p.Pro1012=)
c.2556T= (p.Pro852=)
12g.47978019A>CCA479454965COL2A1c.2895T>G (p.Pro965=)
c.3102T>G (p.Pro1034=)
n.2188T>G
c.3246T>G (p.Pro1082=)
c.3243T>G (p.Pro1081=)
c.2190T>G (p.Pro730=)
c.3036T>G (p.Pro1012=)
c.2556T>G (p.Pro852=)
12g.47978019A>GCA6534900COL2A1c.2895T>C (p.Pro965=)
c.3102T>C (p.Pro1034=)
n.2188T>C
c.3246T>C (p.Pro1082=)
c.3243T>C (p.Pro1081=)
c.2190T>C (p.Pro730=)
c.3036T>C (p.Pro1012=)
c.2556T>C (p.Pro852=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47978019A>TCA479454968COL2A1c.2895T>A (p.Pro965=)
c.3102T>A (p.Pro1034=)
n.2188T>A
c.3246T>A (p.Pro1082=)
c.3243T>A (p.Pro1081=)
c.2190T>A (p.Pro730=)
c.3036T>A (p.Pro1012=)
c.2556T>A (p.Pro852=)
12g.47978020G>ACA384540626COL2A1c.2894C>T (p.Pro965Leu)
c.3101C>T (p.Pro1034Leu)
n.2187C>T
c.3245C>T (p.Pro1082Leu)
c.3242C>T (p.Pro1081Leu)
c.2189C>T (p.Pro730Leu)
c.3035C>T (p.Pro1012Leu)
c.2555C>T (p.Pro852Leu)
12g.47978020G>CCA384540627COL2A1c.2894C>G (p.Pro965Arg)
c.3101C>G (p.Pro1034Arg)
n.2187C>G
c.3245C>G (p.Pro1082Arg)
c.3242C>G (p.Pro1081Arg)
c.2189C>G (p.Pro730Arg)
c.3035C>G (p.Pro1012Arg)
c.2555C>G (p.Pro852Arg)
12g.47978020G>TCA384540628COL2A1c.2894C>A (p.Pro965His)
c.3101C>A (p.Pro1034His)
n.2187C>A
c.3245C>A (p.Pro1082His)
c.3242C>A (p.Pro1081His)
c.2189C>A (p.Pro730His)
c.3035C>A (p.Pro1012His)
c.2555C>A (p.Pro852His)
12g.47978021G>ACA236521577COL2A1c.2893C>T (p.Pro965Ser)
c.3100C>T (p.Pro1034Ser)
n.2186C>T
c.3244C>T (p.Pro1082Ser)
c.3241C>T (p.Pro1081Ser)
c.2188C>T (p.Pro730Ser)
c.3034C>T (p.Pro1012Ser)
c.2554C>T (p.Pro852Ser)
 dbSNP gnomAD v4
12g.47978021G>CCA384540629COL2A1c.2893C>G (p.Pro965Ala)
c.3100C>G (p.Pro1034Ala)
n.2186C>G
c.3244C>G (p.Pro1082Ala)
c.3241C>G (p.Pro1081Ala)
c.2188C>G (p.Pro730Ala)
c.3034C>G (p.Pro1012Ala)
c.2554C>G (p.Pro852Ala)
12g.47978021G=CA2034476690COL2A1c.2893C= (p.Pro965=)
c.3100C= (p.Pro1034=)
n.2186C=
c.3244C= (p.Pro1082=)
c.3241C= (p.Pro1081=)
c.2188C= (p.Pro730=)
c.3034C= (p.Pro1012=)
c.2554C= (p.Pro852=)
12g.47978021G>TCA384540630COL2A1c.2893C>A (p.Pro965Thr)
c.3100C>A (p.Pro1034Thr)
n.2186C>A
c.3244C>A (p.Pro1082Thr)
c.3241C>A (p.Pro1081Thr)
c.2188C>A (p.Pro730Thr)
c.3034C>A (p.Pro1012Thr)
c.2554C>A (p.Pro852Thr)
12g.47978022T>ACA384540631COL2A1c.2892A>T (p.Glu964Asp)
c.3099A>T (p.Glu1033Asp)
n.2185A>T
c.3243A>T (p.Glu1081Asp)
c.3240A>T (p.Glu1080Asp)
c.2187A>T (p.Glu729Asp)
c.3033A>T (p.Glu1011Asp)
c.2553A>T (p.Glu851Asp)
12g.47978022T>CCA479454977COL2A1c.2892A>G (p.Glu964=)
c.3099A>G (p.Glu1033=)
n.2185A>G
c.3243A>G (p.Glu1081=)
c.3240A>G (p.Glu1080=)
c.2187A>G (p.Glu729=)
c.3033A>G (p.Glu1011=)
c.2553A>G (p.Glu851=)
12g.47978022T>GCA384540632COL2A1c.2892A>C (p.Glu964Asp)
c.3099A>C (p.Glu1033Asp)
n.2185A>C
c.3243A>C (p.Glu1081Asp)
c.3240A>C (p.Glu1080Asp)
c.2187A>C (p.Glu729Asp)
c.3033A>C (p.Glu1011Asp)
c.2553A>C (p.Glu851Asp)
12g.47978023T>ACA384540633COL2A1c.2891A>T (p.Glu964Val)
c.3098A>T (p.Glu1033Val)
n.2184A>T
c.3242A>T (p.Glu1081Val)
c.3239A>T (p.Glu1080Val)
c.2186A>T (p.Glu729Val)
c.3032A>T (p.Glu1011Val)
c.2552A>T (p.Glu851Val)
12g.47978023T>CCA384540635COL2A1c.2891A>G (p.Glu964Gly)
c.3098A>G (p.Glu1033Gly)
n.2184A>G
c.3242A>G (p.Glu1081Gly)
c.3239A>G (p.Glu1080Gly)
c.2186A>G (p.Glu729Gly)
c.3032A>G (p.Glu1011Gly)
c.2552A>G (p.Glu851Gly)
12g.47978023T>GCA384540634COL2A1c.2891A>C (p.Glu964Ala)
c.3098A>C (p.Glu1033Ala)
n.2184A>C
c.3242A>C (p.Glu1081Ala)
c.3239A>C (p.Glu1080Ala)
c.2186A>C (p.Glu729Ala)
c.3032A>C (p.Glu1011Ala)
c.2552A>C (p.Glu851Ala)
12g.47978024C>ACA384540636COL2A1c.2890G>T (p.Glu964Ter)
c.3097G>T (p.Glu1033Ter)
n.2183G>T
c.3241G>T (p.Glu1081Ter)
c.3238G>T (p.Glu1080Ter)
c.2185G>T (p.Glu729Ter)
c.3031G>T (p.Glu1011Ter)
c.2551G>T (p.Glu851Ter)
12g.47978024C>GCA384540637COL2A1c.2890G>C (p.Glu964Gln)
c.3097G>C (p.Glu1033Gln)
n.2183G>C
c.3241G>C (p.Glu1081Gln)
c.3238G>C (p.Glu1080Gln)
c.2185G>C (p.Glu729Gln)
c.3031G>C (p.Glu1011Gln)
c.2551G>C (p.Glu851Gln)
12g.47978024C>TCA384540638COL2A1c.2890G>A (p.Glu964Lys)
c.3097G>A (p.Glu1033Lys)
n.2183G>A
c.3241G>A (p.Glu1081Lys)
c.3238G>A (p.Glu1080Lys)
c.2185G>A (p.Glu729Lys)
c.3031G>A (p.Glu1011Lys)
c.2551G>A (p.Glu851Lys)
 COSMIC COSMIC
12g.47978025A>CCA479454987COL2A1c.2889T>G (p.Gly963=)
c.3096T>G (p.Gly1032=)
n.2182T>G
c.3240T>G (p.Gly1080=)
c.3237T>G (p.Gly1079=)
c.2184T>G (p.Gly728=)
c.3030T>G (p.Gly1010=)
c.2550T>G (p.Gly850=)
12g.47978025A>GCA479454988COL2A1c.2889T>C (p.Gly963=)
c.3096T>C (p.Gly1032=)
n.2182T>C
c.3240T>C (p.Gly1080=)
c.3237T>C (p.Gly1079=)
c.2184T>C (p.Gly728=)
c.3030T>C (p.Gly1010=)
c.2550T>C (p.Gly850=)
12g.47978025A>TCA479454990COL2A1c.2889T>A (p.Gly963=)
c.3096T>A (p.Gly1032=)
n.2182T>A
c.3240T>A (p.Gly1080=)
c.3237T>A (p.Gly1079=)
c.2184T>A (p.Gly728=)
c.3030T>A (p.Gly1010=)
c.2550T>A (p.Gly850=)
12g.47978026C>ACA384540639COL2A1c.2888G>T (p.Gly963Val)
c.3095G>T (p.Gly1032Val)
n.2181G>T
c.3239G>T (p.Gly1080Val)
c.3236G>T (p.Gly1079Val)
c.2183G>T (p.Gly728Val)
c.3029G>T (p.Gly1010Val)
c.2549G>T (p.Gly850Val)
12g.47978026C>GCA384540640COL2A1c.2888G>C (p.Gly963Ala)
c.3095G>C (p.Gly1032Ala)
n.2181G>C
c.3239G>C (p.Gly1080Ala)
c.3236G>C (p.Gly1079Ala)
c.2183G>C (p.Gly728Ala)
c.3029G>C (p.Gly1010Ala)
c.2549G>C (p.Gly850Ala)
12g.47978026C>TCA384540641COL2A1c.2888G>A (p.Gly963Asp)
c.3095G>A (p.Gly1032Asp)
n.2181G>A
c.3239G>A (p.Gly1080Asp)
c.3236G>A (p.Gly1079Asp)
c.2183G>A (p.Gly728Asp)
c.3029G>A (p.Gly1010Asp)
c.2549G>A (p.Gly850Asp)
12g.47978027C>ACA384540644COL2A1c.2887G>T (p.Gly963Cys)
c.3094G>T (p.Gly1032Cys)
n.2180G>T
c.3238G>T (p.Gly1080Cys)
c.3235G>T (p.Gly1079Cys)
c.2182G>T (p.Gly728Cys)
c.3028G>T (p.Gly1010Cys)
c.2548G>T (p.Gly850Cys)
12g.47978027C>GCA384540643COL2A1c.2887G>C (p.Gly963Arg)
c.3094G>C (p.Gly1032Arg)
n.2180G>C
c.3238G>C (p.Gly1080Arg)
c.3235G>C (p.Gly1079Arg)
c.2182G>C (p.Gly728Arg)
c.3028G>C (p.Gly1010Arg)
c.2548G>C (p.Gly850Arg)
12g.47978027C>TCA384540642COL2A1c.2887G>A (p.Gly963Ser)
c.3094G>A (p.Gly1032Ser)
n.2180G>A
c.3238G>A (p.Gly1080Ser)
c.3235G>A (p.Gly1079Ser)
c.2182G>A (p.Gly728Ser)
c.3028G>A (p.Gly1010Ser)
c.2548G>A (p.Gly850Ser)
12g.47978028T>ACA479454998COL2A1c.2886A>T (p.Ala962=)
c.3093A>T (p.Ala1031=)
n.2179A>T
c.3237A>T (p.Ala1079=)
c.3234A>T (p.Ala1078=)
c.2181A>T (p.Ala727=)
c.3027A>T (p.Ala1009=)
c.2547A>T (p.Ala849=)
12g.47978028T>CCA479455001COL2A1c.2886A>G (p.Ala962=)
c.3093A>G (p.Ala1031=)
n.2179A>G
c.3237A>G (p.Ala1079=)
c.3234A>G (p.Ala1078=)
c.2181A>G (p.Ala727=)
c.3027A>G (p.Ala1009=)
c.2547A>G (p.Ala849=)
12g.47978028T>GCA479454999COL2A1c.2886A>C (p.Ala962=)
c.3093A>C (p.Ala1031=)
n.2179A>C
c.3237A>C (p.Ala1079=)
c.3234A>C (p.Ala1078=)
c.2181A>C (p.Ala727=)
c.3027A>C (p.Ala1009=)
c.2547A>C (p.Ala849=)
12g.47978029G>ACA384540645COL2A1c.2885C>T (p.Ala962Val)
c.3092C>T (p.Ala1031Val)
n.2178C>T
c.3236C>T (p.Ala1079Val)
c.3233C>T (p.Ala1078Val)
c.2180C>T (p.Ala727Val)
c.3026C>T (p.Ala1009Val)
c.2546C>T (p.Ala849Val)
12g.47978029G>CCA384540646COL2A1c.2885C>G (p.Ala962Gly)
c.3092C>G (p.Ala1031Gly)
n.2178C>G
c.3236C>G (p.Ala1079Gly)
c.3233C>G (p.Ala1078Gly)
c.2180C>G (p.Ala727Gly)
c.3026C>G (p.Ala1009Gly)
c.2546C>G (p.Ala849Gly)
12g.47978029G>TCA384540647COL2A1c.2885C>A (p.Ala962Glu)
c.3092C>A (p.Ala1031Glu)
n.2178C>A
c.3236C>A (p.Ala1079Glu)
c.3233C>A (p.Ala1078Glu)
c.2180C>A (p.Ala727Glu)
c.3026C>A (p.Ala1009Glu)
c.2546C>A (p.Ala849Glu)
12g.47978030C>ACA384540648COL2A1c.2884G>T (p.Ala962Ser)
c.3091G>T (p.Ala1031Ser)
n.2177G>T
c.3235G>T (p.Ala1079Ser)
c.3232G>T (p.Ala1078Ser)
c.2179G>T (p.Ala727Ser)
c.3025G>T (p.Ala1009Ser)
c.2545G>T (p.Ala849Ser)
 gnomAD v4
12g.47978030C>GCA384540649COL2A1c.2884G>C (p.Ala962Pro)
c.3091G>C (p.Ala1031Pro)
n.2177G>C
c.3235G>C (p.Ala1079Pro)
c.3232G>C (p.Ala1078Pro)
c.2179G>C (p.Ala727Pro)
c.3025G>C (p.Ala1009Pro)
c.2545G>C (p.Ala849Pro)
12g.47978030C>TCA384540650COL2A1c.2884G>A (p.Ala962Thr)
c.3091G>A (p.Ala1031Thr)
n.2177G>A
c.3235G>A (p.Ala1079Thr)
c.3232G>A (p.Ala1078Thr)
c.2179G>A (p.Ala727Thr)
c.3025G>A (p.Ala1009Thr)
c.2545G>A (p.Ala849Thr)
12g.47978031A>CCA479455012COL2A1c.2883T>G (p.Pro961=)
c.3090T>G (p.Pro1030=)
n.2176T>G
c.3234T>G (p.Pro1078=)
c.3231T>G (p.Pro1077=)
c.2178T>G (p.Pro726=)
c.3024T>G (p.Pro1008=)
c.2544T>G (p.Pro848=)
12g.47978031A>GCA479455010COL2A1c.2883T>C (p.Pro961=)
c.3090T>C (p.Pro1030=)
n.2176T>C
c.3234T>C (p.Pro1078=)
c.3231T>C (p.Pro1077=)
c.2178T>C (p.Pro726=)
c.3024T>C (p.Pro1008=)
c.2544T>C (p.Pro848=)
 gnomAD v4
12g.47978031A>TCA479455008COL2A1c.2883T>A (p.Pro961=)
c.3090T>A (p.Pro1030=)
n.2176T>A
c.3234T>A (p.Pro1078=)
c.3231T>A (p.Pro1077=)
c.2178T>A (p.Pro726=)
c.3024T>A (p.Pro1008=)
c.2544T>A (p.Pro848=)
12g.47978032G>ACA384540653COL2A1c.2882C>T (p.Pro961Leu)
c.3089C>T (p.Pro1030Leu)
n.2175C>T
c.3233C>T (p.Pro1078Leu)
c.3230C>T (p.Pro1077Leu)
c.2177C>T (p.Pro726Leu)
c.3023C>T (p.Pro1008Leu)
c.2543C>T (p.Pro848Leu)
12g.47978032G>CCA384540651COL2A1c.2882C>G (p.Pro961Arg)
c.3089C>G (p.Pro1030Arg)
n.2175C>G
c.3233C>G (p.Pro1078Arg)
c.3230C>G (p.Pro1077Arg)
c.2177C>G (p.Pro726Arg)
c.3023C>G (p.Pro1008Arg)
c.2543C>G (p.Pro848Arg)
12g.47978032G>TCA384540652COL2A1c.2882C>A (p.Pro961His)
c.3089C>A (p.Pro1030His)
n.2175C>A
c.3233C>A (p.Pro1078His)
c.3230C>A (p.Pro1077His)
c.2177C>A (p.Pro726His)
c.3023C>A (p.Pro1008His)
c.2543C>A (p.Pro848His)
12g.47978033G>ACA384540654COL2A1c.2881C>T (p.Pro961Ser)
c.3088C>T (p.Pro1030Ser)
n.2174C>T
c.3232C>T (p.Pro1078Ser)
c.3229C>T (p.Pro1077Ser)
c.2176C>T (p.Pro726Ser)
c.3022C>T (p.Pro1008Ser)
c.2542C>T (p.Pro848Ser)
12g.47978033G>CCA384540655COL2A1c.2881C>G (p.Pro961Ala)
c.3088C>G (p.Pro1030Ala)
n.2174C>G
c.3232C>G (p.Pro1078Ala)
c.3229C>G (p.Pro1077Ala)
c.2176C>G (p.Pro726Ala)
c.3022C>G (p.Pro1008Ala)
c.2542C>G (p.Pro848Ala)
12g.47978033G>TCA384540656COL2A1c.2881C>A (p.Pro961Thr)
c.3088C>A (p.Pro1030Thr)
n.2174C>A
c.3232C>A (p.Pro1078Thr)
c.3229C>A (p.Pro1077Thr)
c.2176C>A (p.Pro726Thr)
c.3022C>A (p.Pro1008Thr)
c.2542C>A (p.Pro848Thr)
12g.47978034A>CCA479455019COL2A1c.2880T>G (p.Gly960=)
c.3087T>G (p.Gly1029=)
n.2173T>G
c.3231T>G (p.Gly1077=)
c.3228T>G (p.Gly1076=)
c.2175T>G (p.Gly725=)
c.3021T>G (p.Gly1007=)
c.2541T>G (p.Gly847=)
12g.47978034A>GCA479455023COL2A1c.2880T>C (p.Gly960=)
c.3087T>C (p.Gly1029=)
n.2173T>C
c.3231T>C (p.Gly1077=)
c.3228T>C (p.Gly1076=)
c.2175T>C (p.Gly725=)
c.3021T>C (p.Gly1007=)
c.2541T>C (p.Gly847=)
12g.47978034A>TCA479455021COL2A1c.2880T>A (p.Gly960=)
c.3087T>A (p.Gly1029=)
n.2173T>A
c.3231T>A (p.Gly1077=)
c.3228T>A (p.Gly1076=)
c.2175T>A (p.Gly725=)
c.3021T>A (p.Gly1007=)
c.2541T>A (p.Gly847=)
12g.47978034_47978040delinsCCAGGCA2695216640COL2A1c.2874_2880delinsCCTGG (p.Thr959LeufsTer5)
c.3081_3087delinsCCTGG (p.Thr1028LeufsTer5)
n.2167_2173delinsCCTGG
c.3225_3231delinsCCTGG (p.Thr1076LeufsTer5)
c.3222_3228delinsCCTGG (p.Thr1075LeufsTer5)
c.2169_2175delinsCCTGG (p.Thr724LeufsTer5)
c.3015_3021delinsCCTGG (p.Thr1006LeufsTer5)
c.2535_2541delinsCCTGG (p.Thr846LeufsTer5)
12g.47978035C>ACA384540657COL2A1c.2879G>T (p.Gly960Val)
c.3086G>T (p.Gly1029Val)
n.2172G>T
c.3230G>T (p.Gly1077Val)
c.3227G>T (p.Gly1076Val)
c.2174G>T (p.Gly725Val)
c.3020G>T (p.Gly1007Val)
c.2540G>T (p.Gly847Val)
12g.47978035C>GCA384540658COL2A1c.2879G>C (p.Gly960Ala)
c.3086G>C (p.Gly1029Ala)
n.2172G>C
c.3230G>C (p.Gly1077Ala)
c.3227G>C (p.Gly1076Ala)
c.2174G>C (p.Gly725Ala)
c.3020G>C (p.Gly1007Ala)
c.2540G>C (p.Gly847Ala)
12g.47978035C>TCA384540659COL2A1c.2879G>A (p.Gly960Asp)
c.3086G>A (p.Gly1029Asp)
n.2172G>A
c.3230G>A (p.Gly1077Asp)
c.3227G>A (p.Gly1076Asp)
c.2174G>A (p.Gly725Asp)
c.3020G>A (p.Gly1007Asp)
c.2540G>A (p.Gly847Asp)
12g.47978036C>ACA384540660COL2A1c.2878G>T (p.Gly960Cys)
c.3085G>T (p.Gly1029Cys)
n.2171G>T
c.3229G>T (p.Gly1077Cys)
c.3226G>T (p.Gly1076Cys)
c.2173G>T (p.Gly725Cys)
c.3019G>T (p.Gly1007Cys)
c.2539G>T (p.Gly847Cys)
 ClinVar
12g.47978036C>GCA384540661COL2A1c.2878G>C (p.Gly960Arg)
c.3085G>C (p.Gly1029Arg)
n.2171G>C
c.3229G>C (p.Gly1077Arg)
c.3226G>C (p.Gly1076Arg)
c.2173G>C (p.Gly725Arg)
c.3019G>C (p.Gly1007Arg)
c.2539G>C (p.Gly847Arg)
12g.47978036C>TCA384540662COL2A1c.2878G>A (p.Gly960Ser)
c.3085G>A (p.Gly1029Ser)
n.2171G>A
c.3229G>A (p.Gly1077Ser)
c.3226G>A (p.Gly1076Ser)
c.2173G>A (p.Gly725Ser)
c.3019G>A (p.Gly1007Ser)
c.2539G>A (p.Gly847Ser)
12g.47978037C>ACA6534901COL2A1c.2877G>T (p.Thr959=)
c.3084G>T (p.Thr1028=)
n.2170G>T
c.3228G>T (p.Thr1076=)
c.3225G>T (p.Thr1075=)
c.2172G>T (p.Thr724=)
c.3018G>T (p.Thr1006=)
c.2538G>T (p.Thr846=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47978037C=CA2034476691COL2A1c.2877G= (p.Thr959=)
c.3084G= (p.Thr1028=)
n.2170G=
c.3228G= (p.Thr1076=)
c.3225G= (p.Thr1075=)
c.2172G= (p.Thr724=)
c.3018G= (p.Thr1006=)
c.2538G= (p.Thr846=)
12g.47978037C>GCA479455031COL2A1c.2877G>C (p.Thr959=)
c.3084G>C (p.Thr1028=)
n.2170G>C
c.3228G>C (p.Thr1076=)
c.3225G>C (p.Thr1075=)
c.2172G>C (p.Thr724=)
c.3018G>C (p.Thr1006=)
c.2538G>C (p.Thr846=)
12g.47978037C>TCA236521578COL2A1c.2877G>A (p.Thr959=)
c.3084G>A (p.Thr1028=)
n.2170G>A
c.3228G>A (p.Thr1076=)
c.3225G>A (p.Thr1075=)
c.2172G>A (p.Thr724=)
c.3018G>A (p.Thr1006=)
c.2538G>A (p.Thr846=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47978038G>ACA6534902COL2A1c.2876C>T (p.Thr959Met)
c.3083C>T (p.Thr1028Met)
n.2169C>T
c.3227C>T (p.Thr1076Met)
c.3224C>T (p.Thr1075Met)
c.2171C>T (p.Thr724Met)
c.3017C>T (p.Thr1006Met)
c.2537C>T (p.Thr846Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47978038G>CCA384540666COL2A1c.2876C>G (p.Thr959Arg)
c.3083C>G (p.Thr1028Arg)
n.2169C>G
c.3227C>G (p.Thr1076Arg)
c.3224C>G (p.Thr1075Arg)
c.2171C>G (p.Thr724Arg)
c.3017C>G (p.Thr1006Arg)
c.2537C>G (p.Thr846Arg)
12g.47978038G=CA2034476692COL2A1c.2876C= (p.Thr959=)
c.3083C= (p.Thr1028=)
n.2169C=
c.3227C= (p.Thr1076=)
c.3224C= (p.Thr1075=)
c.2171C= (p.Thr724=)
c.3017C= (p.Thr1006=)
c.2537C= (p.Thr846=)
12g.47978038G>TCA384540670COL2A1c.2876C>A (p.Thr959Lys)
c.3083C>A (p.Thr1028Lys)
n.2169C>A
c.3227C>A (p.Thr1076Lys)
c.3224C>A (p.Thr1075Lys)
c.2171C>A (p.Thr724Lys)
c.3017C>A (p.Thr1006Lys)
c.2537C>A (p.Thr846Lys)
12g.47978039T>ACA384540672COL2A1c.2875A>T (p.Thr959Ser)
c.3082A>T (p.Thr1028Ser)
n.2168A>T
c.3226A>T (p.Thr1076Ser)
c.3223A>T (p.Thr1075Ser)
c.2170A>T (p.Thr724Ser)
c.3016A>T (p.Thr1006Ser)
c.2536A>T (p.Thr846Ser)
 ClinVar
12g.47978039T>CCA384540675COL2A1c.2875A>G (p.Thr959Ala)
c.3082A>G (p.Thr1028Ala)
n.2168A>G
c.3226A>G (p.Thr1076Ala)
c.3223A>G (p.Thr1075Ala)
c.2170A>G (p.Thr724Ala)
c.3016A>G (p.Thr1006Ala)
c.2536A>G (p.Thr846Ala)
12g.47978039T>GCA384540673COL2A1c.2875A>C (p.Thr959Pro)
c.3082A>C (p.Thr1028Pro)
n.2168A>C
c.3226A>C (p.Thr1076Pro)
c.3223A>C (p.Thr1075Pro)
c.2170A>C (p.Thr724Pro)
c.3016A>C (p.Thr1006Pro)
c.2536A>C (p.Thr846Pro)
12g.47978040C>ACA479455041COL2A1c.2874G>T (p.Leu958=)
c.3081G>T (p.Leu1027=)
n.2167G>T
c.3225G>T (p.Leu1075=)
c.3222G>T (p.Leu1074=)
c.2169G>T (p.Leu723=)
c.3015G>T (p.Leu1005=)
c.2535G>T (p.Leu845=)
12g.47978040C>GCA479455043COL2A1c.2874G>C (p.Leu958=)
c.3081G>C (p.Leu1027=)
n.2167G>C
c.3225G>C (p.Leu1075=)
c.3222G>C (p.Leu1074=)
c.2169G>C (p.Leu723=)
c.3015G>C (p.Leu1005=)
c.2535G>C (p.Leu845=)
12g.47978040C>TCA479455044COL2A1c.2874G>A (p.Leu958=)
c.3081G>A (p.Leu1027=)
n.2167G>A
c.3225G>A (p.Leu1075=)
c.3222G>A (p.Leu1074=)
c.2169G>A (p.Leu723=)
c.3015G>A (p.Leu1005=)
c.2535G>A (p.Leu845=)
12g.47978041A>CCA384540678COL2A1c.2873T>G (p.Leu958Arg)
c.3080T>G (p.Leu1027Arg)
n.2166T>G
c.3224T>G (p.Leu1075Arg)
c.3221T>G (p.Leu1074Arg)
c.2168T>G (p.Leu723Arg)
c.3014T>G (p.Leu1005Arg)
c.2534T>G (p.Leu845Arg)
12g.47978041A>GCA384540679COL2A1c.2873T>C (p.Leu958Pro)
c.3080T>C (p.Leu1027Pro)
n.2166T>C
c.3224T>C (p.Leu1075Pro)
c.3221T>C (p.Leu1074Pro)
c.2168T>C (p.Leu723Pro)
c.3014T>C (p.Leu1005Pro)
c.2534T>C (p.Leu845Pro)
 ClinVar dbSNP
12g.47978041A>TCA384540680COL2A1c.2873T>A (p.Leu958Gln)
c.3080T>A (p.Leu1027Gln)
n.2166T>A
c.3224T>A (p.Leu1075Gln)
c.3221T>A (p.Leu1074Gln)
c.2168T>A (p.Leu723Gln)
c.3014T>A (p.Leu1005Gln)
c.2534T>A (p.Leu845Gln)
12g.47978041_47978059delinsAGGCCAGGAGGACCCACGGCA2034476693COL2A1c.2855_2873delinsCCGTGGGTCCTCCTGGCCT (p.Pro952=)
c.3062_3080delinsCCGTGGGTCCTCCTGGCCT (p.Pro1021=)
n.2148_2166delinsCCGTGGGTCCTCCTGGCCT
c.3206_3224delinsCCGTGGGTCCTCCTGGCCT (p.Pro1069=)
c.3203_3221delinsCCGTGGGTCCTCCTGGCCT (p.Pro1068=)
c.2150_2168delinsCCGTGGGTCCTCCTGGCCT (p.Pro717=)
c.2996_3014delinsCCGTGGGTCCTCCTGGCCT (p.Pro999=)
c.2516_2534delinsCCGTGGGTCCTCCTGGCCT (p.Pro839=)
12g.47978042G>ACA6534903COL2A1c.2872C>T (p.Leu958=)
c.3079C>T (p.Leu1027=)
n.2165C>T
c.3223C>T (p.Leu1075=)
c.3220C>T (p.Leu1074=)
c.2167C>T (p.Leu723=)
c.3013C>T (p.Leu1005=)
c.2533C>T (p.Leu845=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47978042G>CCA384540684COL2A1c.2872C>G (p.Leu958Val)
c.3079C>G (p.Leu1027Val)
n.2165C>G
c.3223C>G (p.Leu1075Val)
c.3220C>G (p.Leu1074Val)
c.2167C>G (p.Leu723Val)
c.3013C>G (p.Leu1005Val)
c.2533C>G (p.Leu845Val)
12g.47978042G=CA2034476694COL2A1c.2872C= (p.Leu958=)
c.3079C= (p.Leu1027=)
n.2165C=
c.3223C= (p.Leu1075=)
c.3220C= (p.Leu1074=)
c.2167C= (p.Leu723=)
c.3013C= (p.Leu1005=)
c.2533C= (p.Leu845=)
12g.47978042G>TCA384540686COL2A1c.2872C>A (p.Leu958Met)
c.3079C>A (p.Leu1027Met)
n.2165C>A
c.3223C>A (p.Leu1075Met)
c.3220C>A (p.Leu1074Met)
c.2167C>A (p.Leu723Met)
c.3013C>A (p.Leu1005Met)
c.2533C>A (p.Leu845Met)
12g.47978072_47978073insCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACCCACGGGGCCAGGAGGACCCA2034476695COL2A1c.2872_2873insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly957_Leu958insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly)
c.3079_3080insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly1026_Leu1027insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly)
n.2165_2166insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC
c.3223_3224insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly1074_Leu1075insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly)
c.3220_3221insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly1073_Leu1074insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly)
c.2167_2168insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly722_Leu723insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly)
c.3013_3014insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly1004_Leu1005insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly)
c.2533_2534insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC (p.Gly844_Leu845insProValGlyProProGlyProValGlyProProGlyProValGlyProProGly)
 ClinVar dbSNP
12g.47978055_47978072delCA645509321COL2A1c.2855_2872del (p.Pro952_Gly957del)
c.3062_3079del (p.Pro1021_Gly1026del)
n.2148_2165del
c.3206_3223del (p.Pro1069_Gly1074del)
c.3203_3220del (p.Pro1068_Gly1073del)
c.2150_2167del (p.Pro717_Gly722del)
c.2996_3013del (p.Pro999_Gly1004del)
c.2516_2533del (p.Pro839_Gly844del)
 ClinVar dbSNP gnomAD v4
12g.47978043G>ACA479455052COL2A1c.2871C>T (p.Gly957=)
c.3078C>T (p.Gly1026=)
n.2164C>T
c.3222C>T (p.Gly1074=)
c.3219C>T (p.Gly1073=)
c.2166C>T (p.Gly722=)
c.3012C>T (p.Gly1004=)
c.2532C>T (p.Gly844=)
 dbSNP
12g.47978043G>CCA479455054COL2A1c.2871C>G (p.Gly957=)
c.3078C>G (p.Gly1026=)
n.2164C>G
c.3222C>G (p.Gly1074=)
c.3219C>G (p.Gly1073=)
c.2166C>G (p.Gly722=)
c.3012C>G (p.Gly1004=)
c.2532C>G (p.Gly844=)
12g.47978043G=CA2034476696COL2A1c.2871C= (p.Gly957=)
c.3078C= (p.Gly1026=)
n.2164C=
c.3222C= (p.Gly1074=)
c.3219C= (p.Gly1073=)
c.2166C= (p.Gly722=)
c.3012C= (p.Gly1004=)
c.2532C= (p.Gly844=)
12g.47978043G>TCA479455055COL2A1c.2871C>A (p.Gly957=)
c.3078C>A (p.Gly1026=)
n.2164C>A
c.3222C>A (p.Gly1074=)
c.3219C>A (p.Gly1073=)
c.2166C>A (p.Gly722=)
c.3012C>A (p.Gly1004=)
c.2532C>A (p.Gly844=)
12g.47978044C>ACA384540688COL2A1c.2870G>T (p.Gly957Val)
c.3077G>T (p.Gly1026Val)
n.2163G>T
c.3221G>T (p.Gly1074Val)
c.3218G>T (p.Gly1073Val)
c.2165G>T (p.Gly722Val)
c.3011G>T (p.Gly1004Val)
c.2531G>T (p.Gly844Val)
12g.47978044C=CA2034476697COL2A1c.2870G= (p.Gly957=)
c.3077G= (p.Gly1026=)
n.2163G=
c.3221G= (p.Gly1074=)
c.3218G= (p.Gly1073=)
c.2165G= (p.Gly722=)
c.3011G= (p.Gly1004=)
c.2531G= (p.Gly844=)
12g.47978044C>GCA384540690COL2A1c.2870G>C (p.Gly957Ala)
c.3077G>C (p.Gly1026Ala)
n.2163G>C
c.3221G>C (p.Gly1074Ala)
c.3218G>C (p.Gly1073Ala)
c.2165G>C (p.Gly722Ala)
c.3011G>C (p.Gly1004Ala)
c.2531G>C (p.Gly844Ala)
 ClinVar dbSNP
12g.47978044C>TCA384540693COL2A1c.2870G>A (p.Gly957Asp)
c.3077G>A (p.Gly1026Asp)
n.2163G>A
c.3221G>A (p.Gly1074Asp)
c.3218G>A (p.Gly1073Asp)
c.2165G>A (p.Gly722Asp)
c.3011G>A (p.Gly1004Asp)
c.2531G>A (p.Gly844Asp)
 ClinVar
12g.47978045C>ACA384540695COL2A1c.2869G>T (p.Gly957Cys)
c.3076G>T (p.Gly1026Cys)
n.2162G>T
c.3220G>T (p.Gly1074Cys)
c.3217G>T (p.Gly1073Cys)
c.2164G>T (p.Gly722Cys)
c.3010G>T (p.Gly1004Cys)
c.2530G>T (p.Gly844Cys)
12g.47978045C>GCA384540697COL2A1c.2869G>C (p.Gly957Arg)
c.3076G>C (p.Gly1026Arg)
n.2162G>C
c.3220G>C (p.Gly1074Arg)
c.3217G>C (p.Gly1073Arg)
c.2164G>C (p.Gly722Arg)
c.3010G>C (p.Gly1004Arg)
c.2530G>C (p.Gly844Arg)
12g.47978045C>TCA384540699COL2A1c.2869G>A (p.Gly957Ser)
c.3076G>A (p.Gly1026Ser)
n.2162G>A
c.3220G>A (p.Gly1074Ser)
c.3217G>A (p.Gly1073Ser)
c.2164G>A (p.Gly722Ser)
c.3010G>A (p.Gly1004Ser)
c.2530G>A (p.Gly844Ser)
12g.47978046A=CA2034476698COL2A1c.2868T= (p.Pro956=)
c.3075T= (p.Pro1025=)
n.2161T=
c.3219T= (p.Pro1073=)
c.3216T= (p.Pro1072=)
c.2163T= (p.Pro721=)
c.3009T= (p.Pro1003=)
c.2529T= (p.Pro843=)
12g.47978046A>CCA479455065COL2A1c.2868T>G (p.Pro956=)
c.3075T>G (p.Pro1025=)
n.2161T>G
c.3219T>G (p.Pro1073=)
c.3216T>G (p.Pro1072=)
c.2163T>G (p.Pro721=)
c.3009T>G (p.Pro1003=)
c.2529T>G (p.Pro843=)
12g.47978046A>GCA479455066COL2A1c.2868T>C (p.Pro956=)
c.3075T>C (p.Pro1025=)
n.2161T>C
c.3219T>C (p.Pro1073=)
c.3216T>C (p.Pro1072=)
c.2163T>C (p.Pro721=)
c.3009T>C (p.Pro1003=)
c.2529T>C (p.Pro843=)
 ClinVar dbSNP
12g.47978046A>TCA479455068COL2A1c.2868T>A (p.Pro956=)
c.3075T>A (p.Pro1025=)
n.2161T>A
c.3219T>A (p.Pro1073=)
c.3216T>A (p.Pro1072=)
c.2163T>A (p.Pro721=)
c.3009T>A (p.Pro1003=)
c.2529T>A (p.Pro843=)
12g.47978046dupCA2573148626COL2A1c.2868dup (p.Gly957TrpfsTer8)
c.3075dup (p.Gly1026TrpfsTer8)
n.2161dup
c.3219dup (p.Gly1074TrpfsTer8)
c.3216dup (p.Gly1073TrpfsTer8)
c.2163dup (p.Gly722TrpfsTer8)
c.3009dup (p.Gly1004TrpfsTer8)
c.2529dup (p.Gly844TrpfsTer8)
 ClinVar dbSNP
12g.47978047G>ACA384540705COL2A1c.2867C>T (p.Pro956Leu)
c.3074C>T (p.Pro1025Leu)
n.2160C>T
c.3218C>T (p.Pro1073Leu)
c.3215C>T (p.Pro1072Leu)
c.2162C>T (p.Pro721Leu)
c.3008C>T (p.Pro1003Leu)
c.2528C>T (p.Pro843Leu)
12g.47978047G>CCA384540703COL2A1c.2867C>G (p.Pro956Arg)
c.3074C>G (p.Pro1025Arg)
n.2160C>G
c.3218C>G (p.Pro1073Arg)
c.3215C>G (p.Pro1072Arg)
c.2162C>G (p.Pro721Arg)
c.3008C>G (p.Pro1003Arg)
c.2528C>G (p.Pro843Arg)
12g.47978047G>TCA384540702COL2A1c.2867C>A (p.Pro956His)
c.3074C>A (p.Pro1025His)
n.2160C>A
c.3218C>A (p.Pro1073His)
c.3215C>A (p.Pro1072His)
c.2162C>A (p.Pro721His)
c.3008C>A (p.Pro1003His)
c.2528C>A (p.Pro843His)
12g.47978048G>ACA384540708COL2A1c.2866C>T (p.Pro956Ser)
c.3073C>T (p.Pro1025Ser)
n.2159C>T
c.3217C>T (p.Pro1073Ser)
c.3214C>T (p.Pro1072Ser)
c.2161C>T (p.Pro721Ser)
c.3007C>T (p.Pro1003Ser)
c.2527C>T (p.Pro843Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47978048G>CCA384540710COL2A1c.2866C>G (p.Pro956Ala)
c.3073C>G (p.Pro1025Ala)
n.2159C>G
c.3217C>G (p.Pro1073Ala)
c.3214C>G (p.Pro1072Ala)
c.2161C>G (p.Pro721Ala)
c.3007C>G (p.Pro1003Ala)
c.2527C>G (p.Pro843Ala)
12g.47978048G=CA2034476699COL2A1c.2866C= (p.Pro956=)
c.3073C= (p.Pro1025=)
n.2159C=
c.3217C= (p.Pro1073=)
c.3214C= (p.Pro1072=)
c.2161C= (p.Pro721=)
c.3007C= (p.Pro1003=)
c.2527C= (p.Pro843=)
12g.47978048G>TCA384540711COL2A1c.2866C>A (p.Pro956Thr)
c.3073C>A (p.Pro1025Thr)
n.2159C>A
c.3217C>A (p.Pro1073Thr)
c.3214C>A (p.Pro1072Thr)
c.2161C>A (p.Pro721Thr)
c.3007C>A (p.Pro1003Thr)
c.2527C>A (p.Pro843Thr)
12g.47978049A>CCA479455076COL2A1c.2865T>G (p.Pro955=)
c.3072T>G (p.Pro1024=)
n.2158T>G
c.3216T>G (p.Pro1072=)
c.3213T>G (p.Pro1071=)
c.2160T>G (p.Pro720=)
c.3006T>G (p.Pro1002=)
c.2526T>G (p.Pro842=)
12g.47978049A>GCA479455079COL2A1c.2865T>C (p.Pro955=)
c.3072T>C (p.Pro1024=)
n.2158T>C
c.3216T>C (p.Pro1072=)
c.3213T>C (p.Pro1071=)
c.2160T>C (p.Pro720=)
c.3006T>C (p.Pro1002=)
c.2526T>C (p.Pro842=)
 gnomAD v4
12g.47978049A>TCA479455077COL2A1c.2865T>A (p.Pro955=)
c.3072T>A (p.Pro1024=)
n.2158T>A
c.3216T>A (p.Pro1072=)
c.3213T>A (p.Pro1071=)
c.2160T>A (p.Pro720=)
c.3006T>A (p.Pro1002=)
c.2526T>A (p.Pro842=)
12g.47978050G>ACA384540712COL2A1c.2864C>T (p.Pro955Leu)
c.3071C>T (p.Pro1024Leu)
n.2157C>T
c.3215C>T (p.Pro1072Leu)
c.3212C>T (p.Pro1071Leu)
c.2159C>T (p.Pro720Leu)
c.3005C>T (p.Pro1002Leu)
c.2525C>T (p.Pro842Leu)
 COSMIC COSMIC
12g.47978050G>CCA384540715COL2A1c.2864C>G (p.Pro955Arg)
c.3071C>G (p.Pro1024Arg)
n.2157C>G
c.3215C>G (p.Pro1072Arg)
c.3212C>G (p.Pro1071Arg)
c.2159C>G (p.Pro720Arg)
c.3005C>G (p.Pro1002Arg)
c.2525C>G (p.Pro842Arg)
12g.47978050G>TCA384540717COL2A1c.2864C>A (p.Pro955His)
c.3071C>A (p.Pro1024His)
n.2157C>A
c.3215C>A (p.Pro1072His)
c.3212C>A (p.Pro1071His)
c.2159C>A (p.Pro720His)
c.3005C>A (p.Pro1002His)
c.2525C>A (p.Pro842His)
12g.47978051G>ACA384540720COL2A1c.2863C>T (p.Pro955Ser)
c.3070C>T (p.Pro1024Ser)
n.2156C>T
c.3214C>T (p.Pro1072Ser)
c.3211C>T (p.Pro1071Ser)
c.2158C>T (p.Pro720Ser)
c.3004C>T (p.Pro1002Ser)
c.2524C>T (p.Pro842Ser)
12g.47978051G>CCA384540721COL2A1c.2863C>G (p.Pro955Ala)
c.3070C>G (p.Pro1024Ala)
n.2156C>G
c.3214C>G (p.Pro1072Ala)
c.3211C>G (p.Pro1071Ala)
c.2158C>G (p.Pro720Ala)
c.3004C>G (p.Pro1002Ala)
c.2524C>G (p.Pro842Ala)
 gnomAD v4
12g.47978051G=CA2034476700COL2A1c.2863C= (p.Pro955=)
c.3070C= (p.Pro1024=)
n.2156C=
c.3214C= (p.Pro1072=)
c.3211C= (p.Pro1071=)
c.2158C= (p.Pro720=)
c.3004C= (p.Pro1002=)
c.2524C= (p.Pro842=)
12g.47978051G>TCA384540724COL2A1c.2863C>A (p.Pro955Thr)
c.3070C>A (p.Pro1024Thr)
n.2156C>A
c.3214C>A (p.Pro1072Thr)
c.3211C>A (p.Pro1071Thr)
c.2158C>A (p.Pro720Thr)
c.3004C>A (p.Pro1002Thr)
c.2524C>A (p.Pro842Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.47978052A>CCA479455088COL2A1c.2862T>G (p.Gly954=)
c.3069T>G (p.Gly1023=)
n.2155T>G
c.3213T>G (p.Gly1071=)
c.3210T>G (p.Gly1070=)
c.2157T>G (p.Gly719=)
c.3003T>G (p.Gly1001=)
c.2523T>G (p.Gly841=)
12g.47978052A>GCA479455089COL2A1c.2862T>C (p.Gly954=)
c.3069T>C (p.Gly1023=)
n.2155T>C
c.3213T>C (p.Gly1071=)
c.3210T>C (p.Gly1070=)
c.2157T>C (p.Gly719=)
c.3003T>C (p.Gly1001=)
c.2523T>C (p.Gly841=)
12g.47978052A>TCA479455091COL2A1c.2862T>A (p.Gly954=)
c.3069T>A (p.Gly1023=)
n.2155T>A
c.3213T>A (p.Gly1071=)
c.3210T>A (p.Gly1070=)
c.2157T>A (p.Gly719=)
c.3003T>A (p.Gly1001=)
c.2523T>A (p.Gly841=)
12g.47978053C>ACA384540727COL2A1c.2861G>T (p.Gly954Val)
c.3068G>T (p.Gly1023Val)
n.2154G>T
c.3212G>T (p.Gly1071Val)
c.3209G>T (p.Gly1070Val)
c.2156G>T (p.Gly719Val)
c.3002G>T (p.Gly1001Val)
c.2522G>T (p.Gly841Val)
12g.47978053C>GCA384540728COL2A1c.2861G>C (p.Gly954Ala)
c.3068G>C (p.Gly1023Ala)
n.2154G>C
c.3212G>C (p.Gly1071Ala)
c.3209G>C (p.Gly1070Ala)
c.2156G>C (p.Gly719Ala)
c.3002G>C (p.Gly1001Ala)
c.2522G>C (p.Gly841Ala)
12g.47978053C>TCA384540730COL2A1c.2861G>A (p.Gly954Asp)
c.3068G>A (p.Gly1023Asp)
n.2154G>A
c.3212G>A (p.Gly1071Asp)
c.3209G>A (p.Gly1070Asp)
c.2156G>A (p.Gly719Asp)
c.3002G>A (p.Gly1001Asp)
c.2522G>A (p.Gly841Asp)
12g.47978054C>ACA384540733COL2A1c.2860G>T (p.Gly954Cys)
c.3067G>T (p.Gly1023Cys)
n.2153G>T
c.3211G>T (p.Gly1071Cys)
c.3208G>T (p.Gly1070Cys)
c.2155G>T (p.Gly719Cys)
c.3001G>T (p.Gly1001Cys)
c.2521G>T (p.Gly841Cys)
12g.47978054C>GCA384540736COL2A1c.2860G>C (p.Gly954Arg)
c.3067G>C (p.Gly1023Arg)
n.2153G>C
c.3211G>C (p.Gly1071Arg)
c.3208G>C (p.Gly1070Arg)
c.2155G>C (p.Gly719Arg)
c.3001G>C (p.Gly1001Arg)
c.2521G>C (p.Gly841Arg)
12g.47978054C>TCA384540735COL2A1c.2860G>A (p.Gly954Ser)
c.3067G>A (p.Gly1023Ser)
n.2153G>A
c.3211G>A (p.Gly1071Ser)
c.3208G>A (p.Gly1070Ser)
c.2155G>A (p.Gly719Ser)
c.3001G>A (p.Gly1001Ser)
c.2521G>A (p.Gly841Ser)
12g.47978055C>ACA479455101COL2A1c.2859G>T (p.Val953=)
c.3066G>T (p.Val1022=)
n.2152G>T
c.3210G>T (p.Val1070=)
c.3207G>T (p.Val1069=)
c.2154G>T (p.Val718=)
c.3000G>T (p.Val1000=)
c.2520G>T (p.Val840=)
12g.47978055C>GCA479455106COL2A1c.2859G>C (p.Val953=)
c.3066G>C (p.Val1022=)
n.2152G>C
c.3210G>C (p.Val1070=)
c.3207G>C (p.Val1069=)
c.2154G>C (p.Val718=)
c.3000G>C (p.Val1000=)
c.2520G>C (p.Val840=)
12g.47978055C>TCA479455104COL2A1c.2859G>A (p.Val953=)
c.3066G>A (p.Val1022=)
n.2152G>A
c.3210G>A (p.Val1070=)
c.3207G>A (p.Val1069=)
c.2154G>A (p.Val718=)
c.3000G>A (p.Val1000=)
c.2520G>A (p.Val840=)
12g.47978056A>CCA384540739COL2A1c.2858T>G (p.Val953Gly)
c.3065T>G (p.Val1022Gly)
n.2151T>G
c.3209T>G (p.Val1070Gly)
c.3206T>G (p.Val1069Gly)
c.2153T>G (p.Val718Gly)
c.2999T>G (p.Val1000Gly)
c.2519T>G (p.Val840Gly)
12g.47978056A>GCA384540742COL2A1c.2858T>C (p.Val953Ala)
c.3065T>C (p.Val1022Ala)
n.2151T>C
c.3209T>C (p.Val1070Ala)
c.3206T>C (p.Val1069Ala)
c.2153T>C (p.Val718Ala)
c.2999T>C (p.Val1000Ala)
c.2519T>C (p.Val840Ala)
12g.47978056A>TCA384540741COL2A1c.2858T>A (p.Val953Glu)
c.3065T>A (p.Val1022Glu)
n.2151T>A
c.3209T>A (p.Val1070Glu)
c.3206T>A (p.Val1069Glu)
c.2153T>A (p.Val718Glu)
c.2999T>A (p.Val1000Glu)
c.2519T>A (p.Val840Glu)
12g.47978057C>ACA6534904COL2A1c.2857G>T (p.Val953Leu)
c.3064G>T (p.Val1022Leu)
n.2150G>T
c.3208G>T (p.Val1070Leu)
c.3205G>T (p.Val1069Leu)
c.2152G>T (p.Val718Leu)
c.2998G>T (p.Val1000Leu)
c.2518G>T (p.Val840Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47978057C=CA2034476701COL2A1c.2857G= (p.Val953=)
c.3064G= (p.Val1022=)
n.2150G=
c.3208G= (p.Val1070=)
c.3205G= (p.Val1069=)
c.2152G= (p.Val718=)
c.2998G= (p.Val1000=)
c.2518G= (p.Val840=)
12g.47978057C>GCA384540744COL2A1c.2857G>C (p.Val953Leu)
c.3064G>C (p.Val1022Leu)
n.2150G>C
c.3208G>C (p.Val1070Leu)
c.3205G>C (p.Val1069Leu)
c.2152G>C (p.Val718Leu)
c.2998G>C (p.Val1000Leu)
c.2518G>C (p.Val840Leu)
12g.47978057C>TCA6534905COL2A1c.2857G>A (p.Val953Met)
c.3064G>A (p.Val1022Met)
n.2150G>A
c.3208G>A (p.Val1070Met)
c.3205G>A (p.Val1069Met)
c.2152G>A (p.Val718Met)
c.2998G>A (p.Val1000Met)
c.2518G>A (p.Val840Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47978058G>ACA6534906COL2A1c.2856C>T (p.Pro952=)
c.3063C>T (p.Pro1021=)
n.2149C>T
c.3207C>T (p.Pro1069=)
c.3204C>T (p.Pro1068=)
c.2151C>T (p.Pro717=)
c.2997C>T (p.Pro999=)
c.2517C>T (p.Pro839=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47978058G>CCA479455129COL2A1c.2856C>G (p.Pro952=)
c.3063C>G (p.Pro1021=)
n.2149C>G
c.3207C>G (p.Pro1069=)
c.3204C>G (p.Pro1068=)
c.2151C>G (p.Pro717=)
c.2997C>G (p.Pro999=)
c.2517C>G (p.Pro839=)
12g.47978058G=CA2034476702COL2A1c.2856C= (p.Pro952=)
c.3063C= (p.Pro1021=)
n.2149C=
c.3207C= (p.Pro1069=)
c.3204C= (p.Pro1068=)
c.2151C= (p.Pro717=)
c.2997C= (p.Pro999=)
c.2517C= (p.Pro839=)
12g.47978058G>TCA479455131COL2A1c.2856C>A (p.Pro952=)
c.3063C>A (p.Pro1021=)
n.2149C>A
c.3207C>A (p.Pro1069=)
c.3204C>A (p.Pro1068=)
c.2151C>A (p.Pro717=)
c.2997C>A (p.Pro999=)
c.2517C>A (p.Pro839=)
12g.47978061delCA2573148627COL2A1c.2856del (p.Val953TrpfsTer6)
c.3063del (p.Val1022TrpfsTer6)
n.2149del
c.3207del (p.Val1070TrpfsTer6)
c.3204del (p.Val1069TrpfsTer6)
c.2151del (p.Val718TrpfsTer6)
c.2997del (p.Val1000TrpfsTer6)
c.2517del (p.Val840TrpfsTer6)
 ClinVar dbSNP
12g.47978059G>ACA384540747COL2A1c.2855C>T (p.Pro952Leu)
c.3062C>T (p.Pro1021Leu)
n.2148C>T
c.3206C>T (p.Pro1069Leu)
c.3203C>T (p.Pro1068Leu)
c.2150C>T (p.Pro717Leu)
c.2996C>T (p.Pro999Leu)
c.2516C>T (p.Pro839Leu)
 gnomAD v4
12g.47978059G>CCA384540749COL2A1c.2855C>G (p.Pro952Arg)
c.3062C>G (p.Pro1021Arg)
n.2148C>G
c.3206C>G (p.Pro1069Arg)
c.3203C>G (p.Pro1068Arg)
c.2150C>G (p.Pro717Arg)
c.2996C>G (p.Pro999Arg)
c.2516C>G (p.Pro839Arg)
12g.47978059G>TCA384540751COL2A1c.2855C>A (p.Pro952His)
c.3062C>A (p.Pro1021His)
n.2148C>A
c.3206C>A (p.Pro1069His)
c.3203C>A (p.Pro1068His)
c.2150C>A (p.Pro717His)
c.2996C>A (p.Pro999His)
c.2516C>A (p.Pro839His)
12g.47978060G>ACA384540753COL2A1c.2854C>T (p.Pro952Ser)
c.3061C>T (p.Pro1021Ser)
n.2147C>T
c.3205C>T (p.Pro1069Ser)
c.3202C>T (p.Pro1068Ser)
c.2149C>T (p.Pro717Ser)
c.2995C>T (p.Pro999Ser)
c.2515C>T (p.Pro839Ser)
12g.47978060G>CCA384540755COL2A1c.2854C>G (p.Pro952Ala)
c.3061C>G (p.Pro1021Ala)
n.2147C>G
c.3205C>G (p.Pro1069Ala)
c.3202C>G (p.Pro1068Ala)
c.2149C>G (p.Pro717Ala)
c.2995C>G (p.Pro999Ala)
c.2515C>G (p.Pro839Ala)
12g.47978060G>TCA384540757COL2A1c.2854C>A (p.Pro952Thr)
c.3061C>A (p.Pro1021Thr)
n.2147C>A
c.3205C>A (p.Pro1069Thr)
c.3202C>A (p.Pro1068Thr)
c.2149C>A (p.Pro717Thr)
c.2995C>A (p.Pro999Thr)
c.2515C>A (p.Pro839Thr)
12g.47978061G>ACA6534907COL2A1c.2853C>T (p.Gly951=)
c.3060C>T (p.Gly1020=)
n.2146C>T
c.3204C>T (p.Gly1068=)
c.3201C>T (p.Gly1067=)
c.2148C>T (p.Gly716=)
c.2994C>T (p.Gly998=)
c.2514C>T (p.Gly838=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47978061G>CCA479455152COL2A1c.2853C>G (p.Gly951=)
c.3060C>G (p.Gly1020=)
n.2146C>G
c.3204C>G (p.Gly1068=)
c.3201C>G (p.Gly1067=)
c.2148C>G (p.Gly716=)
c.2994C>G (p.Gly998=)
c.2514C>G (p.Gly838=)
12g.47978061G=CA2034476703COL2A1c.2853C= (p.Gly951=)
c.3060C= (p.Gly1020=)
n.2146C=
c.3204C= (p.Gly1068=)
c.3201C= (p.Gly1067=)
c.2148C= (p.Gly716=)
c.2994C= (p.Gly998=)
c.2514C= (p.Gly838=)
12g.47978061G>TCA479455154COL2A1c.2853C>A (p.Gly951=)
c.3060C>A (p.Gly1020=)
n.2146C>A
c.3204C>A (p.Gly1068=)
c.3201C>A (p.Gly1067=)
c.2148C>A (p.Gly716=)
c.2994C>A (p.Gly998=)
c.2514C>A (p.Gly838=)

Number of alleles fetched