Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47976791delCA2575137769COL2A1c.3228+23del (n.3228+23del)
c.3435+23del (n.3435+23del)
n.2521+23del
n.288+23del
c.3579+23del (n.3579+23del)
c.3576+23del (n.3576+23del)
c.2523+23del (n.2523+23del)
c.3369+23del (n.3369+23del)
c.2889+23del (n.2889+23del)
12g.47976790C>ACA605231597COL2A1c.3228+22G>T (n.3228+22G>T)
c.3435+22G>T (n.3435+22G>T)
n.2521+22G>T
n.288+22G>T
c.3579+22G>T (n.3579+22G>T)
c.3576+22G>T (n.3576+22G>T)
c.2523+22G>T (n.2523+22G>T)
c.3369+22G>T (n.3369+22G>T)
c.2889+22G>T (n.2889+22G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47976790C=CA2034475871COL2A1c.3228+22G= (n.3228+22G=)
c.3435+22G= (n.3435+22G=)
n.2521+22G=
n.288+22G=
c.3579+22G= (n.3579+22G=)
c.3576+22G= (n.3576+22G=)
c.2523+22G= (n.2523+22G=)
c.3369+22G= (n.3369+22G=)
c.2889+22G= (n.2889+22G=)
12g.47976790C>TCA605231598COL2A1c.3228+22G>A (n.3228+22G>A)
c.3435+22G>A (n.3435+22G>A)
n.2521+22G>A
n.288+22G>A
c.3579+22G>A (n.3579+22G>A)
c.3576+22G>A (n.3576+22G>A)
c.2523+22G>A (n.2523+22G>A)
c.3369+22G>A (n.3369+22G>A)
c.2889+22G>A (n.2889+22G>A)
 dbSNP gnomAD v2
12g.47976791C>ACA2618510138COL2A1c.3228+21G>T (n.3228+21G>T)
c.3435+21G>T (n.3435+21G>T)
n.2521+21G>T
n.288+21G>T
c.3579+21G>T (n.3579+21G>T)
c.3576+21G>T (n.3576+21G>T)
c.2523+21G>T (n.2523+21G>T)
c.3369+21G>T (n.3369+21G>T)
c.2889+21G>T (n.2889+21G>T)
 gnomAD v4
12g.47976791C>TCA2618510137COL2A1c.3228+21G>A (n.3228+21G>A)
c.3435+21G>A (n.3435+21G>A)
n.2521+21G>A
n.288+21G>A
c.3579+21G>A (n.3579+21G>A)
c.3576+21G>A (n.3576+21G>A)
c.2523+21G>A (n.2523+21G>A)
c.3369+21G>A (n.3369+21G>A)
c.2889+21G>A (n.2889+21G>A)
 gnomAD v4
12g.47976792A=CA2034475874COL2A1c.3228+20T= (n.3228+20T=)
c.3435+20T= (n.3435+20T=)
n.2521+20T=
n.288+20T=
c.3579+20T= (n.3579+20T=)
c.3576+20T= (n.3576+20T=)
c.2523+20T= (n.2523+20T=)
c.3369+20T= (n.3369+20T=)
c.2889+20T= (n.2889+20T=)
12g.47976792A>GCA947351543COL2A1c.3228+20T>C (n.3228+20T>C)
c.3435+20T>C (n.3435+20T>C)
n.2521+20T>C
n.288+20T>C
c.3579+20T>C (n.3579+20T>C)
c.3576+20T>C (n.3576+20T>C)
c.2523+20T>C (n.2523+20T>C)
c.3369+20T>C (n.3369+20T>C)
c.2889+20T>C (n.2889+20T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.47976793C>ACA2618510142COL2A1c.3228+19G>T (n.3228+19G>T)
c.3435+19G>T (n.3435+19G>T)
n.2521+19G>T
n.288+19G>T
c.3579+19G>T (n.3579+19G>T)
c.3576+19G>T (n.3576+19G>T)
c.2523+19G>T (n.2523+19G>T)
c.3369+19G>T (n.3369+19G>T)
c.2889+19G>T (n.2889+19G>T)
 gnomAD v4
12g.47976793C=CA2034475878COL2A1c.3228+19G= (n.3228+19G=)
c.3435+19G= (n.3435+19G=)
n.2521+19G=
n.288+19G=
c.3579+19G= (n.3579+19G=)
c.3576+19G= (n.3576+19G=)
c.2523+19G= (n.2523+19G=)
c.3369+19G= (n.3369+19G=)
c.2889+19G= (n.2889+19G=)
12g.47976793C>TCA236520567COL2A1c.3228+19G>A (n.3228+19G>A)
c.3435+19G>A (n.3435+19G>A)
n.2521+19G>A
n.288+19G>A
c.3579+19G>A (n.3579+19G>A)
c.3576+19G>A (n.3576+19G>A)
c.2523+19G>A (n.2523+19G>A)
c.3369+19G>A (n.3369+19G>A)
c.2889+19G>A (n.2889+19G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47976794G>ACA6534766COL2A1c.3228+18C>T (n.3228+18C>T)
c.3435+18C>T (n.3435+18C>T)
n.2521+18C>T
n.288+18C>T
c.3579+18C>T (n.3579+18C>T)
c.3576+18C>T (n.3576+18C>T)
c.2523+18C>T (n.2523+18C>T)
c.3369+18C>T (n.3369+18C>T)
c.2889+18C>T (n.2889+18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976794G=CA2034475884COL2A1c.3228+18C= (n.3228+18C=)
c.3435+18C= (n.3435+18C=)
n.2521+18C=
n.288+18C=
c.3579+18C= (n.3579+18C=)
c.3576+18C= (n.3576+18C=)
c.2523+18C= (n.2523+18C=)
c.3369+18C= (n.3369+18C=)
c.2889+18C= (n.2889+18C=)
12g.47976794G>TCA236520574COL2A1c.3228+18C>A (n.3228+18C>A)
c.3435+18C>A (n.3435+18C>A)
n.2521+18C>A
n.288+18C>A
c.3579+18C>A (n.3579+18C>A)
c.3576+18C>A (n.3576+18C>A)
c.2523+18C>A (n.2523+18C>A)
c.3369+18C>A (n.3369+18C>A)
c.2889+18C>A (n.2889+18C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47976795C>ACA605231599COL2A1c.3228+17G>T (n.3228+17G>T)
c.3435+17G>T (n.3435+17G>T)
n.2521+17G>T
n.288+17G>T
c.3579+17G>T (n.3579+17G>T)
c.3576+17G>T (n.3576+17G>T)
c.2523+17G>T (n.2523+17G>T)
c.3369+17G>T (n.3369+17G>T)
c.2889+17G>T (n.2889+17G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47976795C=CA2034475888COL2A1c.3228+17G= (n.3228+17G=)
c.3435+17G= (n.3435+17G=)
n.2521+17G=
n.288+17G=
c.3579+17G= (n.3579+17G=)
c.3576+17G= (n.3576+17G=)
c.2523+17G= (n.2523+17G=)
c.3369+17G= (n.3369+17G=)
c.2889+17G= (n.2889+17G=)
12g.47976795C>TCA2034475889COL2A1c.3228+17G>A (n.3228+17G>A)
c.3435+17G>A (n.3435+17G>A)
n.2521+17G>A
n.288+17G>A
c.3579+17G>A (n.3579+17G>A)
c.3576+17G>A (n.3576+17G>A)
c.2523+17G>A (n.2523+17G>A)
c.3369+17G>A (n.3369+17G>A)
c.2889+17G>A (n.2889+17G>A)
 dbSNP
12g.47976796delCA2575137771COL2A1c.3228+16del (n.3228+16del)
c.3435+16del (n.3435+16del)
n.2521+16del
n.288+16del
c.3579+16del (n.3579+16del)
c.3576+16del (n.3576+16del)
c.2523+16del (n.2523+16del)
c.3369+16del (n.3369+16del)
c.2889+16del (n.2889+16del)
12g.47976796A>GCA2575137772COL2A1c.3228+16T>C (n.3228+16T>C)
c.3435+16T>C (n.3435+16T>C)
n.2521+16T>C
n.288+16T>C
c.3579+16T>C (n.3579+16T>C)
c.3576+16T>C (n.3576+16T>C)
c.2523+16T>C (n.2523+16T>C)
c.3369+16T>C (n.3369+16T>C)
c.2889+16T>C (n.2889+16T>C)
12g.47976796A>TCA2618510157COL2A1c.3228+16T>A (n.3228+16T>A)
c.3435+16T>A (n.3435+16T>A)
n.2521+16T>A
n.288+16T>A
c.3579+16T>A (n.3579+16T>A)
c.3576+16T>A (n.3576+16T>A)
c.2523+16T>A (n.2523+16T>A)
c.3369+16T>A (n.3369+16T>A)
c.2889+16T>A (n.2889+16T>A)
 gnomAD v4
12g.47976797G>ACA654728243COL2A1c.3228+15C>T (n.3228+15C>T)
c.3435+15C>T (n.3435+15C>T)
n.2521+15C>T
n.288+15C>T
c.3579+15C>T (n.3579+15C>T)
c.3576+15C>T (n.3576+15C>T)
c.2523+15C>T (n.2523+15C>T)
c.3369+15C>T (n.3369+15C>T)
c.2889+15C>T (n.2889+15C>T)
 COSMIC COSMIC
12g.47976797G>TCA2575137774COL2A1c.3228+15C>A (n.3228+15C>A)
c.3435+15C>A (n.3435+15C>A)
n.2521+15C>A
n.288+15C>A
c.3579+15C>A (n.3579+15C>A)
c.3576+15C>A (n.3576+15C>A)
c.2523+15C>A (n.2523+15C>A)
c.3369+15C>A (n.3369+15C>A)
c.2889+15C>A (n.2889+15C>A)
 gnomAD v4
12g.47976798G>ACA2618510159COL2A1c.3228+14C>T (n.3228+14C>T)
c.3435+14C>T (n.3435+14C>T)
n.2521+14C>T
n.288+14C>T
c.3579+14C>T (n.3579+14C>T)
c.3576+14C>T (n.3576+14C>T)
c.2523+14C>T (n.2523+14C>T)
c.3369+14C>T (n.3369+14C>T)
c.2889+14C>T (n.2889+14C>T)
 gnomAD v4
12g.47976798G=CA2034475891COL2A1c.3228+14C= (n.3228+14C=)
c.3435+14C= (n.3435+14C=)
n.2521+14C=
n.288+14C=
c.3579+14C= (n.3579+14C=)
c.3576+14C= (n.3576+14C=)
c.2523+14C= (n.2523+14C=)
c.3369+14C= (n.3369+14C=)
c.2889+14C= (n.2889+14C=)
12g.47976798G>TCA605231600COL2A1c.3228+14C>A (n.3228+14C>A)
c.3435+14C>A (n.3435+14C>A)
n.2521+14C>A
n.288+14C>A
c.3579+14C>A (n.3579+14C>A)
c.3576+14C>A (n.3576+14C>A)
c.2523+14C>A (n.2523+14C>A)
c.3369+14C>A (n.3369+14C>A)
c.2889+14C>A (n.2889+14C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.47976799C>ACA2618510165COL2A1c.3228+13G>T (n.3228+13G>T)
c.3435+13G>T (n.3435+13G>T)
n.2521+13G>T
n.288+13G>T
c.3579+13G>T (n.3579+13G>T)
c.3576+13G>T (n.3576+13G>T)
c.2523+13G>T (n.2523+13G>T)
c.3369+13G>T (n.3369+13G>T)
c.2889+13G>T (n.2889+13G>T)
 gnomAD v4
12g.47976801G>ACA2618510166COL2A1c.3228+11C>T (n.3228+11C>T)
c.3435+11C>T (n.3435+11C>T)
n.2521+11C>T
n.288+11C>T
c.3579+11C>T (n.3579+11C>T)
c.3576+11C>T (n.3576+11C>T)
c.2523+11C>T (n.2523+11C>T)
c.3369+11C>T (n.3369+11C>T)
c.2889+11C>T (n.2889+11C>T)
 gnomAD v4
12g.47976802T>ACA2618510167COL2A1c.3228+10A>T (n.3228+10A>T)
c.3435+10A>T (n.3435+10A>T)
n.2521+10A>T
n.288+10A>T
c.3579+10A>T (n.3579+10A>T)
c.3576+10A>T (n.3576+10A>T)
c.2523+10A>T (n.2523+10A>T)
c.3369+10A>T (n.3369+10A>T)
c.2889+10A>T (n.2889+10A>T)
 gnomAD v4
12g.47976803G>ACA236520577COL2A1c.3228+9C>T (n.3228+9C>T)
c.3435+9C>T (n.3435+9C>T)
n.2521+9C>T
n.288+9C>T
c.3579+9C>T (n.3579+9C>T)
c.3576+9C>T (n.3576+9C>T)
c.2523+9C>T (n.2523+9C>T)
c.3369+9C>T (n.3369+9C>T)
c.2889+9C>T (n.2889+9C>T)
 ClinVar dbSNP
12g.47976803G=CA2034475895COL2A1c.3228+9C= (n.3228+9C=)
c.3435+9C= (n.3435+9C=)
n.2521+9C=
n.288+9C=
c.3579+9C= (n.3579+9C=)
c.3576+9C= (n.3576+9C=)
c.2523+9C= (n.2523+9C=)
c.3369+9C= (n.3369+9C=)
c.2889+9C= (n.2889+9C=)
12g.47976803G>TCA2618510174COL2A1c.3228+9C>A (n.3228+9C>A)
c.3435+9C>A (n.3435+9C>A)
n.2521+9C>A
n.288+9C>A
c.3579+9C>A (n.3579+9C>A)
c.3576+9C>A (n.3576+9C>A)
c.2523+9C>A (n.2523+9C>A)
c.3369+9C>A (n.3369+9C>A)
c.2889+9C>A (n.2889+9C>A)
 gnomAD v4
12g.47976805C=CA2034475898COL2A1c.3228+7G= (n.3228+7G=)
c.3435+7G= (n.3435+7G=)
n.2521+7G=
n.288+7G=
c.3579+7G= (n.3579+7G=)
c.3576+7G= (n.3576+7G=)
c.2523+7G= (n.2523+7G=)
c.3369+7G= (n.3369+7G=)
c.2889+7G= (n.2889+7G=)
12g.47976805C>TCA6534767COL2A1c.3228+7G>A (n.3228+7G>A)
c.3435+7G>A (n.3435+7G>A)
n.2521+7G>A
n.288+7G>A
c.3579+7G>A (n.3579+7G>A)
c.3576+7G>A (n.3576+7G>A)
c.2523+7G>A (n.2523+7G>A)
c.3369+7G>A (n.3369+7G>A)
c.2889+7G>A (n.2889+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47976808_47976811delCA2580085741COL2A1c.3228+4_3228+7del (n.3228+4_3228+7del)
c.3435+4_3435+7del (n.3435+4_3435+7del)
n.2521+4_2521+7del
n.288+4_288+7del
c.3579+4_3579+7del (n.3579+4_3579+7del)
c.3576+4_3576+7del (n.3576+4_3576+7del)
c.2523+4_2523+7del (n.2523+4_2523+7del)
c.3369+4_3369+7del (n.3369+4_3369+7del)
c.2889+4_2889+7del (n.2889+4_2889+7del)
 ClinVar
12g.47976807C>ACA2618510185COL2A1c.3228+5G>T (n.3228+5G>T)
c.3435+5G>T (n.3435+5G>T)
n.2521+5G>T
n.288+5G>T
c.3579+5G>T (n.3579+5G>T)
c.3576+5G>T (n.3576+5G>T)
c.2523+5G>T (n.2523+5G>T)
c.3369+5G>T (n.3369+5G>T)
c.2889+5G>T (n.2889+5G>T)
 gnomAD v4
12g.47976807C>GCA2580085743COL2A1c.3228+5G>C (n.3228+5G>C)
c.3435+5G>C (n.3435+5G>C)
n.2521+5G>C
n.288+5G>C
c.3579+5G>C (n.3579+5G>C)
c.3576+5G>C (n.3576+5G>C)
c.2523+5G>C (n.2523+5G>C)
c.3369+5G>C (n.3369+5G>C)
c.2889+5G>C (n.2889+5G>C)
 ClinVar
12g.47976807C>TCA2580085742COL2A1c.3228+5G>A (n.3228+5G>A)
c.3435+5G>A (n.3435+5G>A)
n.2521+5G>A
n.288+5G>A
c.3579+5G>A (n.3579+5G>A)
c.3576+5G>A (n.3576+5G>A)
c.2523+5G>A (n.2523+5G>A)
c.3369+5G>A (n.3369+5G>A)
c.2889+5G>A (n.2889+5G>A)
 ClinVar
12g.47976809C=CA2034475901COL2A1c.3228+3G= (n.3228+3G=)
c.3435+3G= (n.3435+3G=)
n.2521+3G=
n.288+3G=
c.3579+3G= (n.3579+3G=)
c.3576+3G= (n.3576+3G=)
c.2523+3G= (n.2523+3G=)
c.3369+3G= (n.3369+3G=)
c.2889+3G= (n.2889+3G=)
12g.47976809C>GCA2034475902COL2A1c.3228+3G>C (n.3228+3G>C)
c.3435+3G>C (n.3435+3G>C)
n.2521+3G>C
n.288+3G>C
c.3579+3G>C (n.3579+3G>C)
c.3576+3G>C (n.3576+3G>C)
c.2523+3G>C (n.2523+3G>C)
c.3369+3G>C (n.3369+3G>C)
c.2889+3G>C (n.2889+3G>C)
 dbSNP
12g.47976810A>CCA384538615COL2A1c.3228+2T>G (n.3228+2T>G)
c.3435+2T>G (n.3435+2T>G)
n.2521+2T>G
n.288+2T>G
c.3579+2T>G (n.3579+2T>G)
c.3576+2T>G (n.3576+2T>G)
c.2523+2T>G (n.2523+2T>G)
c.3369+2T>G (n.3369+2T>G)
c.2889+2T>G (n.2889+2T>G)
12g.47976810A>GCA384538618COL2A1c.3228+2T>C (n.3228+2T>C)
c.3435+2T>C (n.3435+2T>C)
n.2521+2T>C
n.288+2T>C
c.3579+2T>C (n.3579+2T>C)
c.3576+2T>C (n.3576+2T>C)
c.2523+2T>C (n.2523+2T>C)
c.3369+2T>C (n.3369+2T>C)
c.2889+2T>C (n.2889+2T>C)
12g.47976810A>TCA384538621COL2A1c.3228+2T>A (n.3228+2T>A)
c.3435+2T>A (n.3435+2T>A)
n.2521+2T>A
n.288+2T>A
c.3579+2T>A (n.3579+2T>A)
c.3576+2T>A (n.3576+2T>A)
c.2523+2T>A (n.2523+2T>A)
c.3369+2T>A (n.3369+2T>A)
c.2889+2T>A (n.2889+2T>A)
12g.47976811C>ACA384538625COL2A1c.3228+1G>T (n.3228+1G>T)
c.3435+1G>T (n.3435+1G>T)
n.2521+1G>T
n.288+1G>T
c.3579+1G>T (n.3579+1G>T)
c.3576+1G>T (n.3576+1G>T)
c.2523+1G>T (n.2523+1G>T)
c.3369+1G>T (n.3369+1G>T)
c.2889+1G>T (n.2889+1G>T)
12g.47976811C>GCA384538628COL2A1c.3228+1G>C (n.3228+1G>C)
c.3435+1G>C (n.3435+1G>C)
n.2521+1G>C
n.288+1G>C
c.3579+1G>C (n.3579+1G>C)
c.3576+1G>C (n.3576+1G>C)
c.2523+1G>C (n.2523+1G>C)
c.3369+1G>C (n.3369+1G>C)
c.2889+1G>C (n.2889+1G>C)
12g.47976811C>TCA384538630COL2A1c.3228+1G>A (n.3228+1G>A)
c.3435+1G>A (n.3435+1G>A)
n.2521+1G>A
n.288+1G>A
c.3579+1G>A (n.3579+1G>A)
c.3576+1G>A (n.3576+1G>A)
c.2523+1G>A (n.2523+1G>A)
c.3369+1G>A (n.3369+1G>A)
c.2889+1G>A (n.2889+1G>A)
12g.47976812A=CA2034475904COL2A1c.3228T= (p.Pro1076=)
c.3435T= (p.Pro1145=)
n.2521T=
n.288T=
c.3579T= (p.Pro1193=)
c.3576T= (p.Pro1192=)
c.2523T= (p.Pro841=)
c.3369T= (p.Pro1123=)
c.2889T= (p.Pro963=)
12g.47976812A>CCA479452131COL2A1c.3228T>G (p.Pro1076=)
c.3435T>G (p.Pro1145=)
n.2521T>G
n.288T>G
c.3579T>G (p.Pro1193=)
c.3576T>G (p.Pro1192=)
c.2523T>G (p.Pro841=)
c.3369T>G (p.Pro1123=)
c.2889T>G (p.Pro963=)
12g.47976812A>GCA6534768COL2A1c.3228T>C (p.Pro1076=)
c.3435T>C (p.Pro1145=)
n.2521T>C
n.288T>C
c.3579T>C (p.Pro1193=)
c.3576T>C (p.Pro1192=)
c.2523T>C (p.Pro841=)
c.3369T>C (p.Pro1123=)
c.2889T>C (p.Pro963=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47976812A>TCA479452132COL2A1c.3228T>A (p.Pro1076=)
c.3435T>A (p.Pro1145=)
n.2521T>A
n.288T>A
c.3579T>A (p.Pro1193=)
c.3576T>A (p.Pro1192=)
c.2523T>A (p.Pro841=)
c.3369T>A (p.Pro1123=)
c.2889T>A (p.Pro963=)
 gnomAD v4
12g.47976813G>ACA384538640COL2A1c.3227C>T (p.Pro1076Leu)
c.3434C>T (p.Pro1145Leu)
n.2520C>T
n.287C>T
c.3578C>T (p.Pro1193Leu)
c.3575C>T (p.Pro1192Leu)
c.2522C>T (p.Pro841Leu)
c.3368C>T (p.Pro1123Leu)
c.2888C>T (p.Pro963Leu)
12g.47976813G>CCA384538637COL2A1c.3227C>G (p.Pro1076Arg)
c.3434C>G (p.Pro1145Arg)
n.2520C>G
n.287C>G
c.3578C>G (p.Pro1193Arg)
c.3575C>G (p.Pro1192Arg)
c.2522C>G (p.Pro841Arg)
c.3368C>G (p.Pro1123Arg)
c.2888C>G (p.Pro963Arg)
12g.47976813G>TCA384538635COL2A1c.3227C>A (p.Pro1076His)
c.3434C>A (p.Pro1145His)
n.2520C>A
n.287C>A
c.3578C>A (p.Pro1193His)
c.3575C>A (p.Pro1192His)
c.2522C>A (p.Pro841His)
c.3368C>A (p.Pro1123His)
c.2888C>A (p.Pro963His)
12g.47976814G>ACA384538643COL2A1c.3226C>T (p.Pro1076Ser)
c.3433C>T (p.Pro1145Ser)
n.2519C>T
n.286C>T
c.3577C>T (p.Pro1193Ser)
c.3574C>T (p.Pro1192Ser)
c.2521C>T (p.Pro841Ser)
c.3367C>T (p.Pro1123Ser)
c.2887C>T (p.Pro963Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47976814G>CCA384538644COL2A1c.3226C>G (p.Pro1076Ala)
c.3433C>G (p.Pro1145Ala)
n.2519C>G
n.286C>G
c.3577C>G (p.Pro1193Ala)
c.3574C>G (p.Pro1192Ala)
c.2521C>G (p.Pro841Ala)
c.3367C>G (p.Pro1123Ala)
c.2887C>G (p.Pro963Ala)
12g.47976814G=CA2034475907COL2A1c.3226C= (p.Pro1076=)
c.3433C= (p.Pro1145=)
n.2519C=
n.286C=
c.3577C= (p.Pro1193=)
c.3574C= (p.Pro1192=)
c.2521C= (p.Pro841=)
c.3367C= (p.Pro1123=)
c.2887C= (p.Pro963=)
12g.47976814G>TCA384538645COL2A1c.3226C>A (p.Pro1076Thr)
c.3433C>A (p.Pro1145Thr)
n.2519C>A
n.286C>A
c.3577C>A (p.Pro1193Thr)
c.3574C>A (p.Pro1192Thr)
c.2521C>A (p.Pro841Thr)
c.3367C>A (p.Pro1123Thr)
c.2887C>A (p.Pro963Thr)
12g.47976815A=CA2034475911COL2A1c.3225T= (p.Pro1075=)
c.3432T= (p.Pro1144=)
n.2518T=
n.285T=
c.3576T= (p.Pro1192=)
c.3573T= (p.Pro1191=)
c.2520T= (p.Pro840=)
c.3366T= (p.Pro1122=)
c.2886T= (p.Pro962=)
12g.47976815A>CCA479452134COL2A1c.3225T>G (p.Pro1075=)
c.3432T>G (p.Pro1144=)
n.2518T>G
n.285T>G
c.3576T>G (p.Pro1192=)
c.3573T>G (p.Pro1191=)
c.2520T>G (p.Pro840=)
c.3366T>G (p.Pro1122=)
c.2886T>G (p.Pro962=)
12g.47976815A>GCA479452136COL2A1c.3225T>C (p.Pro1075=)
c.3432T>C (p.Pro1144=)
n.2518T>C
n.285T>C
c.3576T>C (p.Pro1192=)
c.3573T>C (p.Pro1191=)
c.2520T>C (p.Pro840=)
c.3366T>C (p.Pro1122=)
c.2886T>C (p.Pro962=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47976815A>TCA479452135COL2A1c.3225T>A (p.Pro1075=)
c.3432T>A (p.Pro1144=)
n.2518T>A
n.285T>A
c.3576T>A (p.Pro1192=)
c.3573T>A (p.Pro1191=)
c.2520T>A (p.Pro840=)
c.3366T>A (p.Pro1122=)
c.2886T>A (p.Pro962=)
12g.47976816G>ACA384538646COL2A1c.3224C>T (p.Pro1075Leu)
c.3431C>T (p.Pro1144Leu)
n.2517C>T
n.284C>T
c.3575C>T (p.Pro1192Leu)
c.3572C>T (p.Pro1191Leu)
c.2519C>T (p.Pro840Leu)
c.3365C>T (p.Pro1122Leu)
c.2885C>T (p.Pro962Leu)
12g.47976816G>CCA384538647COL2A1c.3224C>G (p.Pro1075Arg)
c.3431C>G (p.Pro1144Arg)
n.2517C>G
n.284C>G
c.3575C>G (p.Pro1192Arg)
c.3572C>G (p.Pro1191Arg)
c.2519C>G (p.Pro840Arg)
c.3365C>G (p.Pro1122Arg)
c.2885C>G (p.Pro962Arg)
12g.47976816G>TCA384538648COL2A1c.3224C>A (p.Pro1075His)
c.3431C>A (p.Pro1144His)
n.2517C>A
n.284C>A
c.3575C>A (p.Pro1192His)
c.3572C>A (p.Pro1191His)
c.2519C>A (p.Pro840His)
c.3365C>A (p.Pro1122His)
c.2885C>A (p.Pro962His)
12g.47976817G>ACA384538649COL2A1c.3223C>T (p.Pro1075Ser)
c.3430C>T (p.Pro1144Ser)
n.2516C>T
n.283C>T
c.3574C>T (p.Pro1192Ser)
c.3571C>T (p.Pro1191Ser)
c.2518C>T (p.Pro840Ser)
c.3364C>T (p.Pro1122Ser)
c.2884C>T (p.Pro962Ser)
 dbSNP gnomAD v2
12g.47976817G>CCA384538650COL2A1c.3223C>G (p.Pro1075Ala)
c.3430C>G (p.Pro1144Ala)
n.2516C>G
n.283C>G
c.3574C>G (p.Pro1192Ala)
c.3571C>G (p.Pro1191Ala)
c.2518C>G (p.Pro840Ala)
c.3364C>G (p.Pro1122Ala)
c.2884C>G (p.Pro962Ala)
12g.47976817G=CA2034475914COL2A1c.3223C= (p.Pro1075=)
c.3430C= (p.Pro1144=)
n.2516C=
n.283C=
c.3574C= (p.Pro1192=)
c.3571C= (p.Pro1191=)
c.2518C= (p.Pro840=)
c.3364C= (p.Pro1122=)
c.2884C= (p.Pro962=)
12g.47976817G>TCA384538651COL2A1c.3223C>A (p.Pro1075Thr)
c.3430C>A (p.Pro1144Thr)
n.2516C>A
n.283C>A
c.3574C>A (p.Pro1192Thr)
c.3571C>A (p.Pro1191Thr)
c.2518C>A (p.Pro840Thr)
c.3364C>A (p.Pro1122Thr)
c.2884C>A (p.Pro962Thr)
12g.47976818G>ACA479452137COL2A1c.3222C>T (p.Gly1074=)
c.3429C>T (p.Gly1143=)
n.2515C>T
n.282C>T
c.3573C>T (p.Gly1191=)
c.3570C>T (p.Gly1190=)
c.2517C>T (p.Gly839=)
c.3363C>T (p.Gly1121=)
c.2883C>T (p.Gly961=)
12g.47976818G>CCA479452138COL2A1c.3222C>G (p.Gly1074=)
c.3429C>G (p.Gly1143=)
n.2515C>G
n.282C>G
c.3573C>G (p.Gly1191=)
c.3570C>G (p.Gly1190=)
c.2517C>G (p.Gly839=)
c.3363C>G (p.Gly1121=)
c.2883C>G (p.Gly961=)
12g.47976818G=CA2034475917COL2A1c.3222C= (p.Gly1074=)
c.3429C= (p.Gly1143=)
n.2515C=
n.282C=
c.3573C= (p.Gly1191=)
c.3570C= (p.Gly1190=)
c.2517C= (p.Gly839=)
c.3363C= (p.Gly1121=)
c.2883C= (p.Gly961=)
12g.47976818G>TCA479452139COL2A1c.3222C>A (p.Gly1074=)
c.3429C>A (p.Gly1143=)
n.2515C>A
n.282C>A
c.3573C>A (p.Gly1191=)
c.3570C>A (p.Gly1190=)
c.2517C>A (p.Gly839=)
c.3363C>A (p.Gly1121=)
c.2883C>A (p.Gly961=)
 dbSNP
12g.47976819C>ACA384538652COL2A1c.3221G>T (p.Gly1074Val)
c.3428G>T (p.Gly1143Val)
n.2514G>T
n.281G>T
c.3572G>T (p.Gly1191Val)
c.3569G>T (p.Gly1190Val)
c.2516G>T (p.Gly839Val)
c.3362G>T (p.Gly1121Val)
c.2882G>T (p.Gly961Val)
12g.47976819C>GCA384538653COL2A1c.3221G>C (p.Gly1074Ala)
c.3428G>C (p.Gly1143Ala)
n.2514G>C
n.281G>C
c.3572G>C (p.Gly1191Ala)
c.3569G>C (p.Gly1190Ala)
c.2516G>C (p.Gly839Ala)
c.3362G>C (p.Gly1121Ala)
c.2882G>C (p.Gly961Ala)
12g.47976819C>TCA384538655COL2A1c.3221G>A (p.Gly1074Asp)
c.3428G>A (p.Gly1143Asp)
n.2514G>A
n.281G>A
c.3572G>A (p.Gly1191Asp)
c.3569G>A (p.Gly1190Asp)
c.2516G>A (p.Gly839Asp)
c.3362G>A (p.Gly1121Asp)
c.2882G>A (p.Gly961Asp)
12g.47976820C>ACA384538656COL2A1c.3220G>T (p.Gly1074Cys)
c.3427G>T (p.Gly1143Cys)
n.2513G>T
n.280G>T
c.3571G>T (p.Gly1191Cys)
c.3568G>T (p.Gly1190Cys)
c.2515G>T (p.Gly839Cys)
c.3361G>T (p.Gly1121Cys)
c.2881G>T (p.Gly961Cys)
12g.47976820C>GCA384538659COL2A1c.3220G>C (p.Gly1074Arg)
c.3427G>C (p.Gly1143Arg)
n.2513G>C
n.280G>C
c.3571G>C (p.Gly1191Arg)
c.3568G>C (p.Gly1190Arg)
c.2515G>C (p.Gly839Arg)
c.3361G>C (p.Gly1121Arg)
c.2881G>C (p.Gly961Arg)
12g.47976820C>TCA384538658COL2A1c.3220G>A (p.Gly1074Ser)
c.3427G>A (p.Gly1143Ser)
n.2513G>A
n.280G>A
c.3571G>A (p.Gly1191Ser)
c.3568G>A (p.Gly1190Ser)
c.2515G>A (p.Gly839Ser)
c.3361G>A (p.Gly1121Ser)
c.2881G>A (p.Gly961Ser)
 ClinVar dbSNP
12g.47976821G>ACA6534769COL2A1c.3219C>T (p.Pro1073=)
c.3426C>T (p.Pro1142=)
n.2512C>T
n.279C>T
c.3570C>T (p.Pro1190=)
c.3567C>T (p.Pro1189=)
c.2514C>T (p.Pro838=)
c.3360C>T (p.Pro1120=)
c.2880C>T (p.Pro960=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976821G>CCA479452140COL2A1c.3219C>G (p.Pro1073=)
c.3426C>G (p.Pro1142=)
n.2512C>G
n.279C>G
c.3570C>G (p.Pro1190=)
c.3567C>G (p.Pro1189=)
c.2514C>G (p.Pro838=)
c.3360C>G (p.Pro1120=)
c.2880C>G (p.Pro960=)
12g.47976821G=CA2034475920COL2A1c.3219C= (p.Pro1073=)
c.3426C= (p.Pro1142=)
n.2512C=
n.279C=
c.3570C= (p.Pro1190=)
c.3567C= (p.Pro1189=)
c.2514C= (p.Pro838=)
c.3360C= (p.Pro1120=)
c.2880C= (p.Pro960=)
12g.47976821G>TCA479452141COL2A1c.3219C>A (p.Pro1073=)
c.3426C>A (p.Pro1142=)
n.2512C>A
n.279C>A
c.3570C>A (p.Pro1190=)
c.3567C>A (p.Pro1189=)
c.2514C>A (p.Pro838=)
c.3360C>A (p.Pro1120=)
c.2880C>A (p.Pro960=)
 gnomAD v4
12g.47976822G>ACA384538661COL2A1c.3218C>T (p.Pro1073Leu)
c.3425C>T (p.Pro1142Leu)
n.2511C>T
n.278C>T
c.3569C>T (p.Pro1190Leu)
c.3566C>T (p.Pro1189Leu)
c.2513C>T (p.Pro838Leu)
c.3359C>T (p.Pro1120Leu)
c.2879C>T (p.Pro960Leu)
12g.47976822G>CCA384538660COL2A1c.3218C>G (p.Pro1073Arg)
c.3425C>G (p.Pro1142Arg)
n.2511C>G
n.278C>G
c.3569C>G (p.Pro1190Arg)
c.3566C>G (p.Pro1189Arg)
c.2513C>G (p.Pro838Arg)
c.3359C>G (p.Pro1120Arg)
c.2879C>G (p.Pro960Arg)
12g.47976822G=CA2034475922COL2A1c.3218C= (p.Pro1073=)
c.3425C= (p.Pro1142=)
n.2511C=
n.278C=
c.3569C= (p.Pro1190=)
c.3566C= (p.Pro1189=)
c.2513C= (p.Pro838=)
c.3359C= (p.Pro1120=)
c.2879C= (p.Pro960=)
12g.47976822G>TCA384538663COL2A1c.3218C>A (p.Pro1073His)
c.3425C>A (p.Pro1142His)
n.2511C>A
n.278C>A
c.3569C>A (p.Pro1190His)
c.3566C>A (p.Pro1189His)
c.2513C>A (p.Pro838His)
c.3359C>A (p.Pro1120His)
c.2879C>A (p.Pro960His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47976823G>ACA236520590COL2A1c.3217C>T (p.Pro1073Ser)
c.3424C>T (p.Pro1142Ser)
n.2510C>T
n.277C>T
c.3568C>T (p.Pro1190Ser)
c.3565C>T (p.Pro1189Ser)
c.2512C>T (p.Pro838Ser)
c.3358C>T (p.Pro1120Ser)
c.2878C>T (p.Pro960Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47976823G>CCA384538682COL2A1c.3217C>G (p.Pro1073Ala)
c.3424C>G (p.Pro1142Ala)
n.2510C>G
n.277C>G
c.3568C>G (p.Pro1190Ala)
c.3565C>G (p.Pro1189Ala)
c.2512C>G (p.Pro838Ala)
c.3358C>G (p.Pro1120Ala)
c.2878C>G (p.Pro960Ala)
12g.47976823G=CA2034475924COL2A1c.3217C= (p.Pro1073=)
c.3424C= (p.Pro1142=)
n.2510C=
n.277C=
c.3568C= (p.Pro1190=)
c.3565C= (p.Pro1189=)
c.2512C= (p.Pro838=)
c.3358C= (p.Pro1120=)
c.2878C= (p.Pro960=)
12g.47976823G>TCA384538679COL2A1c.3217C>A (p.Pro1073Thr)
c.3424C>A (p.Pro1142Thr)
n.2510C>A
n.277C>A
c.3568C>A (p.Pro1190Thr)
c.3565C>A (p.Pro1189Thr)
c.2512C>A (p.Pro838Thr)
c.3358C>A (p.Pro1120Thr)
c.2878C>A (p.Pro960Thr)
12g.47976824C>ACA479452142COL2A1c.3216G>T (p.Leu1072=)
c.3423G>T (p.Leu1141=)
n.2509G>T
n.276G>T
c.3567G>T (p.Leu1189=)
c.3564G>T (p.Leu1188=)
c.2511G>T (p.Leu837=)
c.3357G>T (p.Leu1119=)
c.2877G>T (p.Leu959=)
12g.47976824C=CA2034475929COL2A1c.3216G= (p.Leu1072=)
c.3423G= (p.Leu1141=)
n.2509G=
n.276G=
c.3567G= (p.Leu1189=)
c.3564G= (p.Leu1188=)
c.2511G= (p.Leu837=)
c.3357G= (p.Leu1119=)
c.2877G= (p.Leu959=)
12g.47976824C>GCA479452143COL2A1c.3216G>C (p.Leu1072=)
c.3423G>C (p.Leu1141=)
n.2509G>C
n.276G>C
c.3567G>C (p.Leu1189=)
c.3564G>C (p.Leu1188=)
c.2511G>C (p.Leu837=)
c.3357G>C (p.Leu1119=)
c.2877G>C (p.Leu959=)
12g.47976824C>TCA6534770COL2A1c.3216G>A (p.Leu1072=)
c.3423G>A (p.Leu1141=)
n.2509G>A
n.276G>A
c.3567G>A (p.Leu1189=)
c.3564G>A (p.Leu1188=)
c.2511G>A (p.Leu837=)
c.3357G>A (p.Leu1119=)
c.2877G>A (p.Leu959=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976825A>CCA384538693COL2A1c.3215T>G (p.Leu1072Arg)
c.3422T>G (p.Leu1141Arg)
n.2508T>G
n.275T>G
c.3566T>G (p.Leu1189Arg)
c.3563T>G (p.Leu1188Arg)
c.2510T>G (p.Leu837Arg)
c.3356T>G (p.Leu1119Arg)
c.2876T>G (p.Leu959Arg)
12g.47976825A>GCA384538687COL2A1c.3215T>C (p.Leu1072Pro)
c.3422T>C (p.Leu1141Pro)
n.2508T>C
n.275T>C
c.3566T>C (p.Leu1189Pro)
c.3563T>C (p.Leu1188Pro)
c.2510T>C (p.Leu837Pro)
c.3356T>C (p.Leu1119Pro)
c.2876T>C (p.Leu959Pro)
12g.47976825A>TCA384538690COL2A1c.3215T>A (p.Leu1072Gln)
c.3422T>A (p.Leu1141Gln)
n.2508T>A
n.275T>A
c.3566T>A (p.Leu1189Gln)
c.3563T>A (p.Leu1188Gln)
c.2510T>A (p.Leu837Gln)
c.3356T>A (p.Leu1119Gln)
c.2876T>A (p.Leu959Gln)
12g.47976826G>ACA6534771COL2A1c.3214C>T (p.Leu1072=)
c.3421C>T (p.Leu1141=)
n.2507C>T
n.274C>T
c.3565C>T (p.Leu1189=)
c.3562C>T (p.Leu1188=)
c.2509C>T (p.Leu837=)
c.3355C>T (p.Leu1119=)
c.2875C>T (p.Leu959=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47976826G>CCA384538698COL2A1c.3214C>G (p.Leu1072Val)
c.3421C>G (p.Leu1141Val)
n.2507C>G
n.274C>G
c.3565C>G (p.Leu1189Val)
c.3562C>G (p.Leu1188Val)
c.2509C>G (p.Leu837Val)
c.3355C>G (p.Leu1119Val)
c.2875C>G (p.Leu959Val)
12g.47976826G=CA2034475933COL2A1c.3214C= (p.Leu1072=)
c.3421C= (p.Leu1141=)
n.2507C=
n.274C=
c.3565C= (p.Leu1189=)
c.3562C= (p.Leu1188=)
c.2509C= (p.Leu837=)
c.3355C= (p.Leu1119=)
c.2875C= (p.Leu959=)
12g.47976826G>TCA384538702COL2A1c.3214C>A (p.Leu1072Met)
c.3421C>A (p.Leu1141Met)
n.2507C>A
n.274C>A
c.3565C>A (p.Leu1189Met)
c.3562C>A (p.Leu1188Met)
c.2509C>A (p.Leu837Met)
c.3355C>A (p.Leu1119Met)
c.2875C>A (p.Leu959Met)
12g.47976827A>CCA479452149COL2A1c.3213T>G (p.Gly1071=)
c.3420T>G (p.Gly1140=)
n.2506T>G
n.273T>G
c.3564T>G (p.Gly1188=)
c.3561T>G (p.Gly1187=)
c.2508T>G (p.Gly836=)
c.3354T>G (p.Gly1118=)
c.2874T>G (p.Gly958=)
12g.47976827A>GCA479452151COL2A1c.3213T>C (p.Gly1071=)
c.3420T>C (p.Gly1140=)
n.2506T>C
n.273T>C
c.3564T>C (p.Gly1188=)
c.3561T>C (p.Gly1187=)
c.2508T>C (p.Gly836=)
c.3354T>C (p.Gly1118=)
c.2874T>C (p.Gly958=)
12g.47976827A>TCA479452153COL2A1c.3213T>A (p.Gly1071=)
c.3420T>A (p.Gly1140=)
n.2506T>A
n.273T>A
c.3564T>A (p.Gly1188=)
c.3561T>A (p.Gly1187=)
c.2508T>A (p.Gly836=)
c.3354T>A (p.Gly1118=)
c.2874T>A (p.Gly958=)
12g.47976828C>ACA384538703COL2A1c.3212G>T (p.Gly1071Val)
c.3419G>T (p.Gly1140Val)
n.2505G>T
n.272G>T
c.3563G>T (p.Gly1188Val)
c.3560G>T (p.Gly1187Val)
c.2507G>T (p.Gly836Val)
c.3353G>T (p.Gly1118Val)
c.2873G>T (p.Gly958Val)
12g.47976828C>GCA384538705COL2A1c.3212G>C (p.Gly1071Ala)
c.3419G>C (p.Gly1140Ala)
n.2505G>C
n.272G>C
c.3563G>C (p.Gly1188Ala)
c.3560G>C (p.Gly1187Ala)
c.2507G>C (p.Gly836Ala)
c.3353G>C (p.Gly1118Ala)
c.2873G>C (p.Gly958Ala)
12g.47976828C>TCA384538707COL2A1c.3212G>A (p.Gly1071Asp)
c.3419G>A (p.Gly1140Asp)
n.2505G>A
n.272G>A
c.3563G>A (p.Gly1188Asp)
c.3560G>A (p.Gly1187Asp)
c.2507G>A (p.Gly836Asp)
c.3353G>A (p.Gly1118Asp)
c.2873G>A (p.Gly958Asp)
12g.47976830delCA2695238919COL2A1c.3212del (p.Gly1071ValfsTer?)
c.3419del (p.Gly1140ValfsTer?)
n.2505del
n.272del
c.3563del (p.Gly1188ValfsTer?)
c.3560del (p.Gly1187ValfsTer?)
c.2507del (p.Gly836ValfsTer?)
c.3353del (p.Gly1118ValfsTer?)
c.2873del (p.Gly958ValfsTer?)
12g.47976829C>ACA384538709COL2A1c.3211G>T (p.Gly1071Cys)
c.3418G>T (p.Gly1140Cys)
n.2504G>T
n.271G>T
c.3562G>T (p.Gly1188Cys)
c.3559G>T (p.Gly1187Cys)
c.2506G>T (p.Gly836Cys)
c.3352G>T (p.Gly1118Cys)
c.2872G>T (p.Gly958Cys)
12g.47976829C>GCA384538710COL2A1c.3211G>C (p.Gly1071Arg)
c.3418G>C (p.Gly1140Arg)
n.2504G>C
n.271G>C
c.3562G>C (p.Gly1188Arg)
c.3559G>C (p.Gly1187Arg)
c.2506G>C (p.Gly836Arg)
c.3352G>C (p.Gly1118Arg)
c.2872G>C (p.Gly958Arg)
12g.47976829C>TCA384538711COL2A1c.3211G>A (p.Gly1071Ser)
c.3418G>A (p.Gly1140Ser)
n.2504G>A
n.271G>A
c.3562G>A (p.Gly1188Ser)
c.3559G>A (p.Gly1187Ser)
c.2506G>A (p.Gly836Ser)
c.3352G>A (p.Gly1118Ser)
c.2872G>A (p.Gly958Ser)
12g.47976830C>ACA384538713COL2A1c.3210G>T (p.Gln1070His)
c.3417G>T (p.Gln1139His)
n.2503G>T
n.270G>T
c.3561G>T (p.Gln1187His)
c.3558G>T (p.Gln1186His)
c.2505G>T (p.Gln835His)
c.3351G>T (p.Gln1117His)
c.2871G>T (p.Gln957His)
12g.47976830C>GCA384538712COL2A1c.3210G>C (p.Gln1070His)
c.3417G>C (p.Gln1139His)
n.2503G>C
n.270G>C
c.3561G>C (p.Gln1187His)
c.3558G>C (p.Gln1186His)
c.2505G>C (p.Gln835His)
c.3351G>C (p.Gln1117His)
c.2871G>C (p.Gln957His)
12g.47976830C>TCA479452168COL2A1c.3210G>A (p.Gln1070=)
c.3417G>A (p.Gln1139=)
n.2503G>A
n.270G>A
c.3561G>A (p.Gln1187=)
c.3558G>A (p.Gln1186=)
c.2505G>A (p.Gln835=)
c.3351G>A (p.Gln1117=)
c.2871G>A (p.Gln957=)
12g.47976831T>ACA384538714COL2A1c.3209A>T (p.Gln1070Leu)
c.3416A>T (p.Gln1139Leu)
n.2502A>T
n.269A>T
c.3560A>T (p.Gln1187Leu)
c.3557A>T (p.Gln1186Leu)
c.2504A>T (p.Gln835Leu)
c.3350A>T (p.Gln1117Leu)
c.2870A>T (p.Gln957Leu)
12g.47976831T>CCA384538719COL2A1c.3209A>G (p.Gln1070Arg)
c.3416A>G (p.Gln1139Arg)
n.2502A>G
n.269A>G
c.3560A>G (p.Gln1187Arg)
c.3557A>G (p.Gln1186Arg)
c.2504A>G (p.Gln835Arg)
c.3350A>G (p.Gln1117Arg)
c.2870A>G (p.Gln957Arg)
12g.47976831T>GCA384538721COL2A1c.3209A>C (p.Gln1070Pro)
c.3416A>C (p.Gln1139Pro)
n.2502A>C
n.269A>C
c.3560A>C (p.Gln1187Pro)
c.3557A>C (p.Gln1186Pro)
c.2504A>C (p.Gln835Pro)
c.3350A>C (p.Gln1117Pro)
c.2870A>C (p.Gln957Pro)
12g.47976832G>ACA384538724COL2A1c.3208C>T (p.Gln1070Ter)
c.3415C>T (p.Gln1139Ter)
n.2501C>T
n.268C>T
c.3559C>T (p.Gln1187Ter)
c.3556C>T (p.Gln1186Ter)
c.2503C>T (p.Gln835Ter)
c.3349C>T (p.Gln1117Ter)
c.2869C>T (p.Gln957Ter)
 COSMIC COSMIC
12g.47976832G>CCA384538726COL2A1c.3208C>G (p.Gln1070Glu)
c.3415C>G (p.Gln1139Glu)
n.2501C>G
n.268C>G
c.3559C>G (p.Gln1187Glu)
c.3556C>G (p.Gln1186Glu)
c.2503C>G (p.Gln835Glu)
c.3349C>G (p.Gln1117Glu)
c.2869C>G (p.Gln957Glu)
12g.47976832G>TCA384538729COL2A1c.3208C>A (p.Gln1070Lys)
c.3415C>A (p.Gln1139Lys)
n.2501C>A
n.268C>A
c.3559C>A (p.Gln1187Lys)
c.3556C>A (p.Gln1186Lys)
c.2503C>A (p.Gln835Lys)
c.3349C>A (p.Gln1117Lys)
c.2869C>A (p.Gln957Lys)
12g.47976833C>ACA479452182COL2A1c.3207G>T (p.Leu1069=)
c.3414G>T (p.Leu1138=)
n.2500G>T
n.267G>T
c.3558G>T (p.Leu1186=)
c.3555G>T (p.Leu1185=)
c.2502G>T (p.Leu834=)
c.3348G>T (p.Leu1116=)
c.2868G>T (p.Leu956=)
12g.47976833C>GCA479452184COL2A1c.3207G>C (p.Leu1069=)
c.3414G>C (p.Leu1138=)
n.2500G>C
n.267G>C
c.3558G>C (p.Leu1186=)
c.3555G>C (p.Leu1185=)
c.2502G>C (p.Leu834=)
c.3348G>C (p.Leu1116=)
c.2868G>C (p.Leu956=)
12g.47976833C>TCA479452186COL2A1c.3207G>A (p.Leu1069=)
c.3414G>A (p.Leu1138=)
n.2500G>A
n.267G>A
c.3558G>A (p.Leu1186=)
c.3555G>A (p.Leu1185=)
c.2502G>A (p.Leu834=)
c.3348G>A (p.Leu1116=)
c.2868G>A (p.Leu956=)
12g.47976834A>CCA384538730COL2A1c.3206T>G (p.Leu1069Arg)
c.3413T>G (p.Leu1138Arg)
n.2499T>G
n.266T>G
c.3557T>G (p.Leu1186Arg)
c.3554T>G (p.Leu1185Arg)
c.2501T>G (p.Leu834Arg)
c.3347T>G (p.Leu1116Arg)
c.2867T>G (p.Leu956Arg)
12g.47976834A>GCA384538732COL2A1c.3206T>C (p.Leu1069Pro)
c.3413T>C (p.Leu1138Pro)
n.2499T>C
n.266T>C
c.3557T>C (p.Leu1186Pro)
c.3554T>C (p.Leu1185Pro)
c.2501T>C (p.Leu834Pro)
c.3347T>C (p.Leu1116Pro)
c.2867T>C (p.Leu956Pro)
12g.47976834A>TCA384538733COL2A1c.3206T>A (p.Leu1069Gln)
c.3413T>A (p.Leu1138Gln)
n.2499T>A
n.266T>A
c.3557T>A (p.Leu1186Gln)
c.3554T>A (p.Leu1185Gln)
c.2501T>A (p.Leu834Gln)
c.3347T>A (p.Leu1116Gln)
c.2867T>A (p.Leu956Gln)
 ClinVar gnomAD v4
12g.47976835G>ACA479452195COL2A1c.3205C>T (p.Leu1069=)
c.3412C>T (p.Leu1138=)
n.2498C>T
n.265C>T
c.3556C>T (p.Leu1186=)
c.3553C>T (p.Leu1185=)
c.2500C>T (p.Leu834=)
c.3346C>T (p.Leu1116=)
c.2866C>T (p.Leu956=)
12g.47976835G>CCA384538735COL2A1c.3205C>G (p.Leu1069Val)
c.3412C>G (p.Leu1138Val)
n.2498C>G
n.265C>G
c.3556C>G (p.Leu1186Val)
c.3553C>G (p.Leu1185Val)
c.2500C>G (p.Leu834Val)
c.3346C>G (p.Leu1116Val)
c.2866C>G (p.Leu956Val)
12g.47976835G>TCA384538737COL2A1c.3205C>A (p.Leu1069Met)
c.3412C>A (p.Leu1138Met)
n.2498C>A
n.265C>A
c.3556C>A (p.Leu1186Met)
c.3553C>A (p.Leu1185Met)
c.2500C>A (p.Leu834Met)
c.3346C>A (p.Leu1116Met)
c.2866C>A (p.Leu956Met)
12g.47976836A>CCA479452207COL2A1c.3204T>G (p.Gly1068=)
c.3411T>G (p.Gly1137=)
n.2497T>G
n.264T>G
c.3555T>G (p.Gly1185=)
c.3552T>G (p.Gly1184=)
c.2499T>G (p.Gly833=)
c.3345T>G (p.Gly1115=)
c.2865T>G (p.Gly955=)
12g.47976836A>GCA479452204COL2A1c.3204T>C (p.Gly1068=)
c.3411T>C (p.Gly1137=)
n.2497T>C
n.264T>C
c.3555T>C (p.Gly1185=)
c.3552T>C (p.Gly1184=)
c.2499T>C (p.Gly833=)
c.3345T>C (p.Gly1115=)
c.2865T>C (p.Gly955=)
12g.47976836A>TCA479452202COL2A1c.3204T>A (p.Gly1068=)
c.3411T>A (p.Gly1137=)
n.2497T>A
n.264T>A
c.3555T>A (p.Gly1185=)
c.3552T>A (p.Gly1184=)
c.2499T>A (p.Gly833=)
c.3345T>A (p.Gly1115=)
c.2865T>A (p.Gly955=)
12g.47976837C>ACA384538743COL2A1c.3203G>T (p.Gly1068Val)
c.3410G>T (p.Gly1137Val)
n.2496G>T
n.263G>T
c.3554G>T (p.Gly1185Val)
c.3551G>T (p.Gly1184Val)
c.2498G>T (p.Gly833Val)
c.3344G>T (p.Gly1115Val)
c.2864G>T (p.Gly955Val)
12g.47976837C>GCA384538741COL2A1c.3203G>C (p.Gly1068Ala)
c.3410G>C (p.Gly1137Ala)
n.2496G>C
n.263G>C
c.3554G>C (p.Gly1185Ala)
c.3551G>C (p.Gly1184Ala)
c.2498G>C (p.Gly833Ala)
c.3344G>C (p.Gly1115Ala)
c.2864G>C (p.Gly955Ala)
12g.47976837C>TCA384538739COL2A1c.3203G>A (p.Gly1068Asp)
c.3410G>A (p.Gly1137Asp)
n.2496G>A
n.263G>A
c.3554G>A (p.Gly1185Asp)
c.3551G>A (p.Gly1184Asp)
c.2498G>A (p.Gly833Asp)
c.3344G>A (p.Gly1115Asp)
c.2864G>A (p.Gly955Asp)
12g.47976838C>ACA384538749COL2A1c.3202G>T (p.Gly1068Cys)
c.3409G>T (p.Gly1137Cys)
n.2495G>T
n.262G>T
c.3553G>T (p.Gly1185Cys)
c.3550G>T (p.Gly1184Cys)
c.2497G>T (p.Gly833Cys)
c.3343G>T (p.Gly1115Cys)
c.2863G>T (p.Gly955Cys)
12g.47976838C=CA2034475936COL2A1c.3202G= (p.Gly1068=)
c.3409G= (p.Gly1137=)
n.2495G=
n.262G=
c.3553G= (p.Gly1185=)
c.3550G= (p.Gly1184=)
c.2497G= (p.Gly833=)
c.3343G= (p.Gly1115=)
c.2863G= (p.Gly955=)
12g.47976838C>GCA384538750COL2A1c.3202G>C (p.Gly1068Arg)
c.3409G>C (p.Gly1137Arg)
n.2495G>C
n.262G>C
c.3553G>C (p.Gly1185Arg)
c.3550G>C (p.Gly1184Arg)
c.2497G>C (p.Gly833Arg)
c.3343G>C (p.Gly1115Arg)
c.2863G>C (p.Gly955Arg)
12g.47976838C>TCA384538752COL2A1c.3202G>A (p.Gly1068Ser)
c.3409G>A (p.Gly1137Ser)
n.2495G>A
n.262G>A
c.3553G>A (p.Gly1185Ser)
c.3550G>A (p.Gly1184Ser)
c.2497G>A (p.Gly833Ser)
c.3343G>A (p.Gly1115Ser)
c.2863G>A (p.Gly955Ser)
 dbSNP gnomAD v2
12g.47976839A>CCA479452225COL2A1c.3201T>G (p.Thr1067=)
c.3408T>G (p.Thr1136=)
n.2494T>G
n.261T>G
c.3552T>G (p.Thr1184=)
c.3549T>G (p.Thr1183=)
c.2496T>G (p.Thr832=)
c.3342T>G (p.Thr1114=)
c.2862T>G (p.Thr954=)
12g.47976839A>GCA479452224COL2A1c.3201T>C (p.Thr1067=)
c.3408T>C (p.Thr1136=)
n.2494T>C
n.261T>C
c.3552T>C (p.Thr1184=)
c.3549T>C (p.Thr1183=)
c.2496T>C (p.Thr832=)
c.3342T>C (p.Thr1114=)
c.2862T>C (p.Thr954=)
12g.47976839A>TCA479452222COL2A1c.3201T>A (p.Thr1067=)
c.3408T>A (p.Thr1136=)
n.2494T>A
n.261T>A
c.3552T>A (p.Thr1184=)
c.3549T>A (p.Thr1183=)
c.2496T>A (p.Thr832=)
c.3342T>A (p.Thr1114=)
c.2862T>A (p.Thr954=)
12g.47976840G>ACA384538754COL2A1c.3200C>T (p.Thr1067Ile)
c.3407C>T (p.Thr1136Ile)
n.2493C>T
n.260C>T
c.3551C>T (p.Thr1184Ile)
c.3548C>T (p.Thr1183Ile)
c.2495C>T (p.Thr832Ile)
c.3341C>T (p.Thr1114Ile)
c.2861C>T (p.Thr954Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47976840G>CCA384538756COL2A1c.3200C>G (p.Thr1067Ser)
c.3407C>G (p.Thr1136Ser)
n.2493C>G
n.260C>G
c.3551C>G (p.Thr1184Ser)
c.3548C>G (p.Thr1183Ser)
c.2495C>G (p.Thr832Ser)
c.3341C>G (p.Thr1114Ser)
c.2861C>G (p.Thr954Ser)
12g.47976840G=CA2034475938COL2A1c.3200C= (p.Thr1067=)
c.3407C= (p.Thr1136=)
n.2493C=
n.260C=
c.3551C= (p.Thr1184=)
c.3548C= (p.Thr1183=)
c.2495C= (p.Thr832=)
c.3341C= (p.Thr1114=)
c.2861C= (p.Thr954=)
12g.47976840G>TCA384538758COL2A1c.3200C>A (p.Thr1067Asn)
c.3407C>A (p.Thr1136Asn)
n.2493C>A
n.260C>A
c.3551C>A (p.Thr1184Asn)
c.3548C>A (p.Thr1183Asn)
c.2495C>A (p.Thr832Asn)
c.3341C>A (p.Thr1114Asn)
c.2861C>A (p.Thr954Asn)
12g.47976841T>ACA384538760COL2A1c.3199A>T (p.Thr1067Ser)
c.3406A>T (p.Thr1136Ser)
n.2492A>T
n.259A>T
c.3550A>T (p.Thr1184Ser)
c.3547A>T (p.Thr1183Ser)
c.2494A>T (p.Thr832Ser)
c.3340A>T (p.Thr1114Ser)
c.2860A>T (p.Thr954Ser)
12g.47976841T>CCA384538761COL2A1c.3199A>G (p.Thr1067Ala)
c.3406A>G (p.Thr1136Ala)
n.2492A>G
n.259A>G
c.3550A>G (p.Thr1184Ala)
c.3547A>G (p.Thr1183Ala)
c.2494A>G (p.Thr832Ala)
c.3340A>G (p.Thr1114Ala)
c.2860A>G (p.Thr954Ala)
 gnomAD v4
12g.47976841T>GCA384538762COL2A1c.3199A>C (p.Thr1067Pro)
c.3406A>C (p.Thr1136Pro)
n.2492A>C
n.259A>C
c.3550A>C (p.Thr1184Pro)
c.3547A>C (p.Thr1183Pro)
c.2494A>C (p.Thr832Pro)
c.3340A>C (p.Thr1114Pro)
c.2860A>C (p.Thr954Pro)
12g.47976842G>ACA479452240COL2A1c.3198C>T (p.Phe1066=)
c.3405C>T (p.Phe1135=)
n.2491C>T
n.258C>T
c.3549C>T (p.Phe1183=)
c.3546C>T (p.Phe1182=)
c.2493C>T (p.Phe831=)
c.3339C>T (p.Phe1113=)
c.2859C>T (p.Phe953=)
 dbSNP gnomAD v2 gnomAD v4
12g.47976842G>CCA6534772COL2A1c.3198C>G (p.Phe1066Leu)
c.3405C>G (p.Phe1135Leu)
n.2491C>G
n.258C>G
c.3549C>G (p.Phe1183Leu)
c.3546C>G (p.Phe1182Leu)
c.2493C>G (p.Phe831Leu)
c.3339C>G (p.Phe1113Leu)
c.2859C>G (p.Phe953Leu)
 dbSNP ExAC gnomAD v2
12g.47976842G=CA2034475942COL2A1c.3198C= (p.Phe1066=)
c.3405C= (p.Phe1135=)
n.2491C=
n.258C=
c.3549C= (p.Phe1183=)
c.3546C= (p.Phe1182=)
c.2493C= (p.Phe831=)
c.3339C= (p.Phe1113=)
c.2859C= (p.Phe953=)
12g.47976842G>TCA384538767COL2A1c.3198C>A (p.Phe1066Leu)
c.3405C>A (p.Phe1135Leu)
n.2491C>A
n.258C>A
c.3549C>A (p.Phe1183Leu)
c.3546C>A (p.Phe1182Leu)
c.2493C>A (p.Phe831Leu)
c.3339C>A (p.Phe1113Leu)
c.2859C>A (p.Phe953Leu)
12g.47976843A>CCA384538773COL2A1c.3197T>G (p.Phe1066Cys)
c.3404T>G (p.Phe1135Cys)
n.2490T>G
n.257T>G
c.3548T>G (p.Phe1183Cys)
c.3545T>G (p.Phe1182Cys)
c.2492T>G (p.Phe831Cys)
c.3338T>G (p.Phe1113Cys)
c.2858T>G (p.Phe953Cys)
 ClinVar
12g.47976843A>GCA384538772COL2A1c.3197T>C (p.Phe1066Ser)
c.3404T>C (p.Phe1135Ser)
n.2490T>C
n.257T>C
c.3548T>C (p.Phe1183Ser)
c.3545T>C (p.Phe1182Ser)
c.2492T>C (p.Phe831Ser)
c.3338T>C (p.Phe1113Ser)
c.2858T>C (p.Phe953Ser)
12g.47976843A>TCA384538770COL2A1c.3197T>A (p.Phe1066Tyr)
c.3404T>A (p.Phe1135Tyr)
n.2490T>A
n.257T>A
c.3548T>A (p.Phe1183Tyr)
c.3545T>A (p.Phe1182Tyr)
c.2492T>A (p.Phe831Tyr)
c.3338T>A (p.Phe1113Tyr)
c.2858T>A (p.Phe953Tyr)
12g.47976844A>CCA384538776COL2A1c.3196T>G (p.Phe1066Val)
c.3403T>G (p.Phe1135Val)
n.2489T>G
n.256T>G
c.3547T>G (p.Phe1183Val)
c.3544T>G (p.Phe1182Val)
c.2491T>G (p.Phe831Val)
c.3337T>G (p.Phe1113Val)
c.2857T>G (p.Phe953Val)
12g.47976844A>GCA384538778COL2A1c.3196T>C (p.Phe1066Leu)
c.3403T>C (p.Phe1135Leu)
n.2489T>C
n.256T>C
c.3547T>C (p.Phe1183Leu)
c.3544T>C (p.Phe1182Leu)
c.2491T>C (p.Phe831Leu)
c.3337T>C (p.Phe1113Leu)
c.2857T>C (p.Phe953Leu)
12g.47976844A>TCA384538779COL2A1c.3196T>A (p.Phe1066Ile)
c.3403T>A (p.Phe1135Ile)
n.2489T>A
n.256T>A
c.3547T>A (p.Phe1183Ile)
c.3544T>A (p.Phe1182Ile)
c.2491T>A (p.Phe831Ile)
c.3337T>A (p.Phe1113Ile)
c.2857T>A (p.Phe953Ile)
12g.47976845G>ACA479452253COL2A1c.3195C>T (p.Gly1065=)
c.3402C>T (p.Gly1134=)
n.2488C>T
n.255C>T
c.3546C>T (p.Gly1182=)
c.3543C>T (p.Gly1181=)
c.2490C>T (p.Gly830=)
c.3336C>T (p.Gly1112=)
c.2856C>T (p.Gly952=)
12g.47976845G>CCA479452255COL2A1c.3195C>G (p.Gly1065=)
c.3402C>G (p.Gly1134=)
n.2488C>G
n.255C>G
c.3546C>G (p.Gly1182=)
c.3543C>G (p.Gly1181=)
c.2490C>G (p.Gly830=)
c.3336C>G (p.Gly1112=)
c.2856C>G (p.Gly952=)
12g.47976845G>TCA479452257COL2A1c.3195C>A (p.Gly1065=)
c.3402C>A (p.Gly1134=)
n.2488C>A
n.255C>A
c.3546C>A (p.Gly1182=)
c.3543C>A (p.Gly1181=)
c.2490C>A (p.Gly830=)
c.3336C>A (p.Gly1112=)
c.2856C>A (p.Gly952=)
12g.47976846C>ACA384538782COL2A1c.3194G>T (p.Gly1065Val)
c.3401G>T (p.Gly1134Val)
n.2487G>T
n.254G>T
c.3545G>T (p.Gly1182Val)
c.3542G>T (p.Gly1181Val)
c.2489G>T (p.Gly830Val)
c.3335G>T (p.Gly1112Val)
c.2855G>T (p.Gly952Val)
12g.47976846C>GCA384538785COL2A1c.3194G>C (p.Gly1065Ala)
c.3401G>C (p.Gly1134Ala)
n.2487G>C
n.254G>C
c.3545G>C (p.Gly1182Ala)
c.3542G>C (p.Gly1181Ala)
c.2489G>C (p.Gly830Ala)
c.3335G>C (p.Gly1112Ala)
c.2855G>C (p.Gly952Ala)
12g.47976846C>TCA384538786COL2A1c.3194G>A (p.Gly1065Asp)
c.3401G>A (p.Gly1134Asp)
n.2487G>A
n.254G>A
c.3545G>A (p.Gly1182Asp)
c.3542G>A (p.Gly1181Asp)
c.2489G>A (p.Gly830Asp)
c.3335G>A (p.Gly1112Asp)
c.2855G>A (p.Gly952Asp)
 ClinVar
12g.47976847delCA2695216633COL2A1c.3194del (p.Gly1065AlafsTer?)
c.3401del (p.Gly1134AlafsTer?)
n.2487del
n.254del
c.3545del (p.Gly1182AlafsTer?)
c.3542del (p.Gly1181AlafsTer?)
c.2489del (p.Gly830AlafsTer?)
c.3335del (p.Gly1112AlafsTer?)
c.2855del (p.Gly952AlafsTer?)
12g.47976847C>ACA384538789COL2A1c.3193G>T (p.Gly1065Cys)
c.3400G>T (p.Gly1134Cys)
n.2486G>T
n.253G>T
c.3544G>T (p.Gly1182Cys)
c.3541G>T (p.Gly1181Cys)
c.2488G>T (p.Gly830Cys)
c.3334G>T (p.Gly1112Cys)
c.2854G>T (p.Gly952Cys)
12g.47976847C>GCA384538792COL2A1c.3193G>C (p.Gly1065Arg)
c.3400G>C (p.Gly1134Arg)
n.2486G>C
n.253G>C
c.3544G>C (p.Gly1182Arg)
c.3541G>C (p.Gly1181Arg)
c.2488G>C (p.Gly830Arg)
c.3334G>C (p.Gly1112Arg)
c.2854G>C (p.Gly952Arg)
12g.47976847C>TCA384538793COL2A1c.3193G>A (p.Gly1065Ser)
c.3400G>A (p.Gly1134Ser)
n.2486G>A
n.253G>A
c.3544G>A (p.Gly1182Ser)
c.3541G>A (p.Gly1181Ser)
c.2488G>A (p.Gly830Ser)
c.3334G>A (p.Gly1112Ser)
c.2854G>A (p.Gly952Ser)
 ClinVar dbSNP
12g.47976848A>CCA479452273COL2A1c.3192T>G (p.Arg1064=)
c.3399T>G (p.Arg1133=)
n.2485T>G
n.252T>G
c.3543T>G (p.Arg1181=)
c.3540T>G (p.Arg1180=)
c.2487T>G (p.Arg829=)
c.3333T>G (p.Arg1111=)
c.2853T>G (p.Arg951=)
12g.47976848A>GCA479452275COL2A1c.3192T>C (p.Arg1064=)
c.3399T>C (p.Arg1133=)
n.2485T>C
n.252T>C
c.3543T>C (p.Arg1181=)
c.3540T>C (p.Arg1180=)
c.2487T>C (p.Arg829=)
c.3333T>C (p.Arg1111=)
c.2853T>C (p.Arg951=)
 ClinVar
12g.47976848A>TCA479452277COL2A1c.3192T>A (p.Arg1064=)
c.3399T>A (p.Arg1133=)
n.2485T>A
n.252T>A
c.3543T>A (p.Arg1181=)
c.3540T>A (p.Arg1180=)
c.2487T>A (p.Arg829=)
c.3333T>A (p.Arg1111=)
c.2853T>A (p.Arg951=)
12g.47976849C>ACA384538794COL2A1c.3191G>T (p.Arg1064Leu)
c.3398G>T (p.Arg1133Leu)
n.2484G>T
n.251G>T
c.3542G>T (p.Arg1181Leu)
c.3539G>T (p.Arg1180Leu)
c.2486G>T (p.Arg829Leu)
c.3332G>T (p.Arg1111Leu)
c.2852G>T (p.Arg951Leu)
12g.47976849C=CA2034475946COL2A1c.3191G= (p.Arg1064=)
c.3398G= (p.Arg1133=)
n.2484G=
n.251G=
c.3542G= (p.Arg1181=)
c.3539G= (p.Arg1180=)
c.2486G= (p.Arg829=)
c.3332G= (p.Arg1111=)
c.2852G= (p.Arg951=)
12g.47976849C>GCA384538795COL2A1c.3191G>C (p.Arg1064Pro)
c.3398G>C (p.Arg1133Pro)
n.2484G>C
n.251G>C
c.3542G>C (p.Arg1181Pro)
c.3539G>C (p.Arg1180Pro)
c.2486G>C (p.Arg829Pro)
c.3332G>C (p.Arg1111Pro)
c.2852G>C (p.Arg951Pro)
12g.47976849C>TCA6534773COL2A1c.3191G>A (p.Arg1064His)
c.3398G>A (p.Arg1133His)
n.2484G>A
n.251G>A
c.3542G>A (p.Arg1181His)
c.3539G>A (p.Arg1180His)
c.2486G>A (p.Arg829His)
c.3332G>A (p.Arg1111His)
c.2852G>A (p.Arg951His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976850G>ACA384538801COL2A1c.3190C>T (p.Arg1064Cys)
c.3397C>T (p.Arg1133Cys)
n.2483C>T
n.250C>T
c.3541C>T (p.Arg1181Cys)
c.3538C>T (p.Arg1180Cys)
c.2485C>T (p.Arg829Cys)
c.3331C>T (p.Arg1111Cys)
c.2851C>T (p.Arg951Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47976850G>CCA384538802COL2A1c.3190C>G (p.Arg1064Gly)
c.3397C>G (p.Arg1133Gly)
n.2483C>G
n.250C>G
c.3541C>G (p.Arg1181Gly)
c.3538C>G (p.Arg1180Gly)
c.2485C>G (p.Arg829Gly)
c.3331C>G (p.Arg1111Gly)
c.2851C>G (p.Arg951Gly)
12g.47976850G=CA2034475948COL2A1c.3190C= (p.Arg1064=)
c.3397C= (p.Arg1133=)
n.2483C=
n.250C=
c.3541C= (p.Arg1181=)
c.3538C= (p.Arg1180=)
c.2485C= (p.Arg829=)
c.3331C= (p.Arg1111=)
c.2851C= (p.Arg951=)
12g.47976850G>TCA384538798COL2A1c.3190C>A (p.Arg1064Ser)
c.3397C>A (p.Arg1133Ser)
n.2483C>A
n.250C>A
c.3541C>A (p.Arg1181Ser)
c.3538C>A (p.Arg1180Ser)
c.2485C>A (p.Arg829Ser)
c.3331C>A (p.Arg1111Ser)
c.2851C>A (p.Arg951Ser)
12g.47976851G>ACA479452289COL2A1c.3189C>T (p.His1063=)
c.3396C>T (p.His1132=)
n.2482C>T
n.249C>T
c.3540C>T (p.His1180=)
c.3537C>T (p.His1179=)
c.2484C>T (p.His828=)
c.3330C>T (p.His1110=)
c.2850C>T (p.His950=)
 dbSNP gnomAD v3 gnomAD v4
12g.47976851G>CCA384538805COL2A1c.3189C>G (p.His1063Gln)
c.3396C>G (p.His1132Gln)
n.2482C>G
n.249C>G
c.3540C>G (p.His1180Gln)
c.3537C>G (p.His1179Gln)
c.2484C>G (p.His828Gln)
c.3330C>G (p.His1110Gln)
c.2850C>G (p.His950Gln)
12g.47976851G=CA2034475952COL2A1c.3189C= (p.His1063=)
c.3396C= (p.His1132=)
n.2482C=
n.249C=
c.3540C= (p.His1180=)
c.3537C= (p.His1179=)
c.2484C= (p.His828=)
c.3330C= (p.His1110=)
c.2850C= (p.His950=)
12g.47976851G>TCA384538808COL2A1c.3189C>A (p.His1063Gln)
c.3396C>A (p.His1132Gln)
n.2482C>A
n.249C>A
c.3540C>A (p.His1180Gln)
c.3537C>A (p.His1179Gln)
c.2484C>A (p.His828Gln)
c.3330C>A (p.His1110Gln)
c.2850C>A (p.His950Gln)
12g.47976852T>ACA384538812COL2A1c.3188A>T (p.His1063Leu)
c.3395A>T (p.His1132Leu)
n.2481A>T
n.248A>T
c.3539A>T (p.His1180Leu)
c.3536A>T (p.His1179Leu)
c.2483A>T (p.His828Leu)
c.3329A>T (p.His1110Leu)
c.2849A>T (p.His950Leu)
12g.47976852T>CCA384538814COL2A1c.3188A>G (p.His1063Arg)
c.3395A>G (p.His1132Arg)
n.2481A>G
n.248A>G
c.3539A>G (p.His1180Arg)
c.3536A>G (p.His1179Arg)
c.2483A>G (p.His828Arg)
c.3329A>G (p.His1110Arg)
c.2849A>G (p.His950Arg)
 ClinVar
12g.47976852T>GCA384538817COL2A1c.3188A>C (p.His1063Pro)
c.3395A>C (p.His1132Pro)
n.2481A>C
n.248A>C
c.3539A>C (p.His1180Pro)
c.3536A>C (p.His1179Pro)
c.2483A>C (p.His828Pro)
c.3329A>C (p.His1110Pro)
c.2849A>C (p.His950Pro)
12g.47976853delCA2695216634COL2A1c.3187del (p.His1063ThrfsTer?)
c.3394del (p.His1132ThrfsTer?)
n.2480del
n.247del
c.3538del (p.His1180ThrfsTer?)
c.3535del (p.His1179ThrfsTer?)
c.2482del (p.His828ThrfsTer?)
c.3328del (p.His1110ThrfsTer?)
c.2848del (p.His950ThrfsTer?)
12g.47976853G>ACA384538822COL2A1c.3187C>T (p.His1063Tyr)
c.3394C>T (p.His1132Tyr)
n.2480C>T
n.247C>T
c.3538C>T (p.His1180Tyr)
c.3535C>T (p.His1179Tyr)
c.2482C>T (p.His828Tyr)
c.3328C>T (p.His1110Tyr)
c.2848C>T (p.His950Tyr)
12g.47976853G>CCA384538825COL2A1c.3187C>G (p.His1063Asp)
c.3394C>G (p.His1132Asp)
n.2480C>G
n.247C>G
c.3538C>G (p.His1180Asp)
c.3535C>G (p.His1179Asp)
c.2482C>G (p.His828Asp)
c.3328C>G (p.His1110Asp)
c.2848C>G (p.His950Asp)
12g.47976853G>TCA384538828COL2A1c.3187C>A (p.His1063Asn)
c.3394C>A (p.His1132Asn)
n.2480C>A
n.247C>A
c.3538C>A (p.His1180Asn)
c.3535C>A (p.His1179Asn)
c.2482C>A (p.His828Asn)
c.3328C>A (p.His1110Asn)
c.2848C>A (p.His950Asn)
12g.47976854T>ACA479452307COL2A1c.3186A>T (p.Gly1062=)
c.3393A>T (p.Gly1131=)
n.2479A>T
n.246A>T
c.3537A>T (p.Gly1179=)
c.3534A>T (p.Gly1178=)
c.2481A>T (p.Gly827=)
c.3327A>T (p.Gly1109=)
c.2847A>T (p.Gly949=)
12g.47976854T>CCA236520612COL2A1c.3186A>G (p.Gly1062=)
c.3393A>G (p.Gly1131=)
n.2479A>G
n.246A>G
c.3537A>G (p.Gly1179=)
c.3534A>G (p.Gly1178=)
c.2481A>G (p.Gly827=)
c.3327A>G (p.Gly1109=)
c.2847A>G (p.Gly949=)
 dbSNP
12g.47976854T>GCA479452310COL2A1c.3186A>C (p.Gly1062=)
c.3393A>C (p.Gly1131=)
n.2479A>C
n.246A>C
c.3537A>C (p.Gly1179=)
c.3534A>C (p.Gly1178=)
c.2481A>C (p.Gly827=)
c.3327A>C (p.Gly1109=)
c.2847A>C (p.Gly949=)
12g.47976854T=CA2034475954COL2A1c.3186A= (p.Gly1062=)
c.3393A= (p.Gly1131=)
n.2479A=
n.246A=
c.3537A= (p.Gly1179=)
c.3534A= (p.Gly1178=)
c.2481A= (p.Gly827=)
c.3327A= (p.Gly1109=)
c.2847A= (p.Gly949=)
12g.47976855C>ACA384538832COL2A1c.3185G>T (p.Gly1062Val)
c.3392G>T (p.Gly1131Val)
n.2478G>T
n.245G>T
c.3536G>T (p.Gly1179Val)
c.3533G>T (p.Gly1178Val)
c.2480G>T (p.Gly827Val)
c.3326G>T (p.Gly1109Val)
c.2846G>T (p.Gly949Val)
12g.47976855C=CA2034475958COL2A1c.3185G= (p.Gly1062=)
c.3392G= (p.Gly1131=)
n.2478G=
n.245G=
c.3536G= (p.Gly1179=)
c.3533G= (p.Gly1178=)
c.2480G= (p.Gly827=)
c.3326G= (p.Gly1109=)
c.2846G= (p.Gly949=)
12g.47976855C>GCA384538834COL2A1c.3185G>C (p.Gly1062Ala)
c.3392G>C (p.Gly1131Ala)
n.2478G>C
n.245G>C
c.3536G>C (p.Gly1179Ala)
c.3533G>C (p.Gly1178Ala)
c.2480G>C (p.Gly827Ala)
c.3326G>C (p.Gly1109Ala)
c.2846G>C (p.Gly949Ala)
12g.47976855C>TCA384538838COL2A1c.3185G>A (p.Gly1062Glu)
c.3392G>A (p.Gly1131Glu)
n.2478G>A
n.245G>A
c.3536G>A (p.Gly1179Glu)
c.3533G>A (p.Gly1178Glu)
c.2480G>A (p.Gly827Glu)
c.3326G>A (p.Gly1109Glu)
c.2846G>A (p.Gly949Glu)
 dbSNP gnomAD v2
12g.47976856C>ACA384538842COL2A1c.3184G>T (p.Gly1062Ter)
c.3391G>T (p.Gly1131Ter)
n.2477G>T
n.244G>T
c.3535G>T (p.Gly1179Ter)
c.3532G>T (p.Gly1178Ter)
c.2479G>T (p.Gly827Ter)
c.3325G>T (p.Gly1109Ter)
c.2845G>T (p.Gly949Ter)
12g.47976856C>GCA384538843COL2A1c.3184G>C (p.Gly1062Arg)
c.3391G>C (p.Gly1131Arg)
n.2477G>C
n.244G>C
c.3535G>C (p.Gly1179Arg)
c.3532G>C (p.Gly1178Arg)
c.2479G>C (p.Gly827Arg)
c.3325G>C (p.Gly1109Arg)
c.2845G>C (p.Gly949Arg)
12g.47976856C>TCA384538846COL2A1c.3184G>A (p.Gly1062Arg)
c.3391G>A (p.Gly1131Arg)
n.2477G>A
n.244G>A
c.3535G>A (p.Gly1179Arg)
c.3532G>A (p.Gly1178Arg)
c.2479G>A (p.Gly827Arg)
c.3325G>A (p.Gly1109Arg)
c.2845G>A (p.Gly949Arg)
12g.47976857C>ACA384538850COL2A1c.3183G>T (p.Lys1061Asn)
c.3390G>T (p.Lys1130Asn)
n.2476G>T
n.243G>T
c.3534G>T (p.Lys1178Asn)
c.3531G>T (p.Lys1177Asn)
c.2478G>T (p.Lys826Asn)
c.3324G>T (p.Lys1108Asn)
c.2844G>T (p.Lys948Asn)
12g.47976857C>GCA384538853COL2A1c.3183G>C (p.Lys1061Asn)
c.3390G>C (p.Lys1130Asn)
n.2476G>C
n.243G>C
c.3534G>C (p.Lys1178Asn)
c.3531G>C (p.Lys1177Asn)
c.2478G>C (p.Lys826Asn)
c.3324G>C (p.Lys1108Asn)
c.2844G>C (p.Lys948Asn)
12g.47976857C>TCA479452326COL2A1c.3183G>A (p.Lys1061=)
c.3390G>A (p.Lys1130=)
n.2476G>A
n.243G>A
c.3534G>A (p.Lys1178=)
c.3531G>A (p.Lys1177=)
c.2478G>A (p.Lys826=)
c.3324G>A (p.Lys1108=)
c.2844G>A (p.Lys948=)
 gnomAD v4
12g.47976858T>ACA384538855COL2A1c.3182A>T (p.Lys1061Met)
c.3389A>T (p.Lys1130Met)
n.2475A>T
n.242A>T
c.3533A>T (p.Lys1178Met)
c.3530A>T (p.Lys1177Met)
c.2477A>T (p.Lys826Met)
c.3323A>T (p.Lys1108Met)
c.2843A>T (p.Lys948Met)
12g.47976858T>CCA384538858COL2A1c.3182A>G (p.Lys1061Arg)
c.3389A>G (p.Lys1130Arg)
n.2475A>G
n.242A>G
c.3533A>G (p.Lys1178Arg)
c.3530A>G (p.Lys1177Arg)
c.2477A>G (p.Lys826Arg)
c.3323A>G (p.Lys1108Arg)
c.2843A>G (p.Lys948Arg)
12g.47976858T>GCA384538862COL2A1c.3182A>C (p.Lys1061Thr)
c.3389A>C (p.Lys1130Thr)
n.2475A>C
n.242A>C
c.3533A>C (p.Lys1178Thr)
c.3530A>C (p.Lys1177Thr)
c.2477A>C (p.Lys826Thr)
c.3323A>C (p.Lys1108Thr)
c.2843A>C (p.Lys948Thr)
12g.47976859T>ACA384538866COL2A1c.3181A>T (p.Lys1061Ter)
c.3388A>T (p.Lys1130Ter)
n.2474A>T
n.241A>T
c.3532A>T (p.Lys1178Ter)
c.3529A>T (p.Lys1177Ter)
c.2476A>T (p.Lys826Ter)
c.3322A>T (p.Lys1108Ter)
c.2842A>T (p.Lys948Ter)
12g.47976859T>CCA384538868COL2A1c.3181A>G (p.Lys1061Glu)
c.3388A>G (p.Lys1130Glu)
n.2474A>G
n.241A>G
c.3532A>G (p.Lys1178Glu)
c.3529A>G (p.Lys1177Glu)
c.2476A>G (p.Lys826Glu)
c.3322A>G (p.Lys1108Glu)
c.2842A>G (p.Lys948Glu)
12g.47976859T>GCA384538871COL2A1c.3181A>C (p.Lys1061Gln)
c.3388A>C (p.Lys1130Gln)
n.2474A>C
n.241A>C
c.3532A>C (p.Lys1178Gln)
c.3529A>C (p.Lys1177Gln)
c.2476A>C (p.Lys826Gln)
c.3322A>C (p.Lys1108Gln)
c.2842A>C (p.Lys948Gln)
12g.47976860C>ACA479452339COL2A1c.3180G>T (p.Leu1060=)
c.3387G>T (p.Leu1129=)
n.2473G>T
n.240G>T
c.3531G>T (p.Leu1177=)
c.3528G>T (p.Leu1176=)
c.2475G>T (p.Leu825=)
c.3321G>T (p.Leu1107=)
c.2841G>T (p.Leu947=)
 ClinVar dbSNP gnomAD v4
12g.47976860C=CA2034475960COL2A1c.3180G= (p.Leu1060=)
c.3387G= (p.Leu1129=)
n.2473G=
n.240G=
c.3531G= (p.Leu1177=)
c.3528G= (p.Leu1176=)
c.2475G= (p.Leu825=)
c.3321G= (p.Leu1107=)
c.2841G= (p.Leu947=)
12g.47976860C>GCA479452341COL2A1c.3180G>C (p.Leu1060=)
c.3387G>C (p.Leu1129=)
n.2473G>C
n.240G>C
c.3531G>C (p.Leu1177=)
c.3528G>C (p.Leu1176=)
c.2475G>C (p.Leu825=)
c.3321G>C (p.Leu1107=)
c.2841G>C (p.Leu947=)
12g.47976860C>TCA479452343COL2A1c.3180G>A (p.Leu1060=)
c.3387G>A (p.Leu1129=)
n.2473G>A
n.240G>A
c.3531G>A (p.Leu1177=)
c.3528G>A (p.Leu1176=)
c.2475G>A (p.Leu825=)
c.3321G>A (p.Leu1107=)
c.2841G>A (p.Leu947=)
 gnomAD v4
12g.47976861A>CCA384538874COL2A1c.3179T>G (p.Leu1060Arg)
c.3386T>G (p.Leu1129Arg)
n.2472T>G
n.239T>G
c.3530T>G (p.Leu1177Arg)
c.3527T>G (p.Leu1176Arg)
c.2474T>G (p.Leu825Arg)
c.3320T>G (p.Leu1107Arg)
c.2840T>G (p.Leu947Arg)
12g.47976861A>GCA384538877COL2A1c.3179T>C (p.Leu1060Pro)
c.3386T>C (p.Leu1129Pro)
n.2472T>C
n.239T>C
c.3530T>C (p.Leu1177Pro)
c.3527T>C (p.Leu1176Pro)
c.2474T>C (p.Leu825Pro)
c.3320T>C (p.Leu1107Pro)
c.2840T>C (p.Leu947Pro)
12g.47976861A>TCA384538884COL2A1c.3179T>A (p.Leu1060Gln)
c.3386T>A (p.Leu1129Gln)
n.2472T>A
n.239T>A
c.3530T>A (p.Leu1177Gln)
c.3527T>A (p.Leu1176Gln)
c.2474T>A (p.Leu825Gln)
c.3320T>A (p.Leu1107Gln)
c.2840T>A (p.Leu947Gln)
12g.47976862G>ACA6534774COL2A1c.3178C>T (p.Leu1060=)
c.3385C>T (p.Leu1129=)
n.2471C>T
n.238C>T
c.3529C>T (p.Leu1177=)
c.3526C>T (p.Leu1176=)
c.2473C>T (p.Leu825=)
c.3319C>T (p.Leu1107=)
c.2839C>T (p.Leu947=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976862G>CCA384538894COL2A1c.3178C>G (p.Leu1060Val)
c.3385C>G (p.Leu1129Val)
n.2471C>G
n.238C>G
c.3529C>G (p.Leu1177Val)
c.3526C>G (p.Leu1176Val)
c.2473C>G (p.Leu825Val)
c.3319C>G (p.Leu1107Val)
c.2839C>G (p.Leu947Val)
12g.47976862G=CA2034475966COL2A1c.3178C= (p.Leu1060=)
c.3385C= (p.Leu1129=)
n.2471C=
n.238C=
c.3529C= (p.Leu1177=)
c.3526C= (p.Leu1176=)
c.2473C= (p.Leu825=)
c.3319C= (p.Leu1107=)
c.2839C= (p.Leu947=)
12g.47976862G>TCA384538895COL2A1c.3178C>A (p.Leu1060Met)
c.3385C>A (p.Leu1129Met)
n.2471C>A
n.238C>A
c.3529C>A (p.Leu1177Met)
c.3526C>A (p.Leu1176Met)
c.2473C>A (p.Leu825Met)
c.3319C>A (p.Leu1107Met)
c.2839C>A (p.Leu947Met)
12g.47976863G>ACA6534775COL2A1c.3177C>T (p.Gly1059=)
c.3384C>T (p.Gly1128=)
n.2470C>T
n.237C>T
c.3528C>T (p.Gly1176=)
c.3525C>T (p.Gly1175=)
c.2472C>T (p.Gly824=)
c.3318C>T (p.Gly1106=)
c.2838C>T (p.Gly946=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976863G>CCA479452361COL2A1c.3177C>G (p.Gly1059=)
c.3384C>G (p.Gly1128=)
n.2470C>G
n.237C>G
c.3528C>G (p.Gly1176=)
c.3525C>G (p.Gly1175=)
c.2472C>G (p.Gly824=)
c.3318C>G (p.Gly1106=)
c.2838C>G (p.Gly946=)
12g.47976863G=CA2034475971COL2A1c.3177C= (p.Gly1059=)
c.3384C= (p.Gly1128=)
n.2470C=
n.237C=
c.3528C= (p.Gly1176=)
c.3525C= (p.Gly1175=)
c.2472C= (p.Gly824=)
c.3318C= (p.Gly1106=)
c.2838C= (p.Gly946=)
12g.47976863G>TCA479452358COL2A1c.3177C>A (p.Gly1059=)
c.3384C>A (p.Gly1128=)
n.2470C>A
n.237C>A
c.3528C>A (p.Gly1176=)
c.3525C>A (p.Gly1175=)
c.2472C>A (p.Gly824=)
c.3318C>A (p.Gly1106=)
c.2838C>A (p.Gly946=)
12g.47976864C>ACA384538899COL2A1c.3176G>T (p.Gly1059Val)
c.3383G>T (p.Gly1128Val)
n.2469G>T
n.236G>T
c.3527G>T (p.Gly1176Val)
c.3524G>T (p.Gly1175Val)
c.2471G>T (p.Gly824Val)
c.3317G>T (p.Gly1106Val)
c.2837G>T (p.Gly946Val)
12g.47976864C>GCA384538903COL2A1c.3176G>C (p.Gly1059Ala)
c.3383G>C (p.Gly1128Ala)
n.2469G>C
n.236G>C
c.3527G>C (p.Gly1176Ala)
c.3524G>C (p.Gly1175Ala)
c.2471G>C (p.Gly824Ala)
c.3317G>C (p.Gly1106Ala)
c.2837G>C (p.Gly946Ala)
12g.47976864C>TCA384538901COL2A1c.3176G>A (p.Gly1059Asp)
c.3383G>A (p.Gly1128Asp)
n.2469G>A
n.236G>A
c.3527G>A (p.Gly1176Asp)
c.3524G>A (p.Gly1175Asp)
c.2471G>A (p.Gly824Asp)
c.3317G>A (p.Gly1106Asp)
c.2837G>A (p.Gly946Asp)
12g.47976864_47976866delinsCCTCA2034475978COL2A1c.3174_3176delinsAGG (p.Arg1058=)
c.3381_3383delinsAGG (p.Arg1127=)
n.2467_2469delinsAGG
n.234_236delinsAGG
c.3525_3527delinsAGG (p.Arg1175=)
c.3522_3524delinsAGG (p.Arg1174=)
c.2469_2471delinsAGG (p.Arg823=)
c.3315_3317delinsAGG (p.Arg1105=)
c.2835_2837delinsAGG (p.Arg945=)
12g.47976865C>ACA384538907COL2A1c.3175G>T (p.Gly1059Cys)
c.3382G>T (p.Gly1128Cys)
n.2468G>T
n.235G>T
c.3526G>T (p.Gly1176Cys)
c.3523G>T (p.Gly1175Cys)
c.2470G>T (p.Gly824Cys)
c.3316G>T (p.Gly1106Cys)
c.2836G>T (p.Gly946Cys)
12g.47976865C=CA2034475987COL2A1c.3175G= (p.Gly1059=)
c.3382G= (p.Gly1128=)
n.2468G=
n.235G=
c.3526G= (p.Gly1176=)
c.3523G= (p.Gly1175=)
c.2470G= (p.Gly824=)
c.3316G= (p.Gly1106=)
c.2836G= (p.Gly946=)
12g.47976865C>GCA10604474COL2A1c.3175G>C (p.Gly1059Arg)
c.3382G>C (p.Gly1128Arg)
n.2468G>C
n.235G>C
c.3526G>C (p.Gly1176Arg)
c.3523G>C (p.Gly1175Arg)
c.2470G>C (p.Gly824Arg)
c.3316G>C (p.Gly1106Arg)
c.2836G>C (p.Gly946Arg)
 ClinVar dbSNP
12g.47976865C>TCA384538910COL2A1c.3175G>A (p.Gly1059Ser)
c.3382G>A (p.Gly1128Ser)
n.2468G>A
n.235G>A
c.3526G>A (p.Gly1176Ser)
c.3523G>A (p.Gly1175Ser)
c.2470G>A (p.Gly824Ser)
c.3316G>A (p.Gly1106Ser)
c.2836G>A (p.Gly946Ser)
12g.47976870_47976871delCA915948408COL2A1c.3174_3175del (p.Gly1059ProfsTer?)
c.3381_3382del (p.Gly1128ProfsTer?)
n.2467_2468del
n.234_235del
c.3525_3526del (p.Gly1176ProfsTer?)
c.3522_3523del (p.Gly1175ProfsTer?)
c.2469_2470del (p.Gly824ProfsTer?)
c.3315_3316del (p.Gly1106ProfsTer?)
c.2835_2836del (p.Gly946ProfsTer?)
 ClinVar dbSNP
12g.47976866T>ACA384538915COL2A1c.3174A>T (p.Arg1058Ser)
c.3381A>T (p.Arg1127Ser)
n.2467A>T
n.234A>T
c.3525A>T (p.Arg1175Ser)
c.3522A>T (p.Arg1174Ser)
c.2469A>T (p.Arg823Ser)
c.3315A>T (p.Arg1105Ser)
c.2835A>T (p.Arg945Ser)
12g.47976866T>CCA479452377COL2A1c.3174A>G (p.Arg1058=)
c.3381A>G (p.Arg1127=)
n.2467A>G
n.234A>G
c.3525A>G (p.Arg1175=)
c.3522A>G (p.Arg1174=)
c.2469A>G (p.Arg823=)
c.3315A>G (p.Arg1105=)
c.2835A>G (p.Arg945=)
 dbSNP gnomAD v2 gnomAD v4
12g.47976866T>GCA384538917COL2A1c.3174A>C (p.Arg1058Ser)
c.3381A>C (p.Arg1127Ser)
n.2467A>C
n.234A>C
c.3525A>C (p.Arg1175Ser)
c.3522A>C (p.Arg1174Ser)
c.2469A>C (p.Arg823Ser)
c.3315A>C (p.Arg1105Ser)
c.2835A>C (p.Arg945Ser)
12g.47976866T=CA2034475996COL2A1c.3174A= (p.Arg1058=)
c.3381A= (p.Arg1127=)
n.2467A=
n.234A=
c.3525A= (p.Arg1175=)
c.3522A= (p.Arg1174=)
c.2469A= (p.Arg823=)
c.3315A= (p.Arg1105=)
c.2835A= (p.Arg945=)
12g.47976867C>ACA384538921COL2A1c.3173G>T (p.Arg1058Ile)
c.3380G>T (p.Arg1127Ile)
n.2466G>T
n.233G>T
c.3524G>T (p.Arg1175Ile)
c.3521G>T (p.Arg1174Ile)
c.2468G>T (p.Arg823Ile)
c.3314G>T (p.Arg1105Ile)
c.2834G>T (p.Arg945Ile)
12g.47976867C=CA2034475999COL2A1c.3173G= (p.Arg1058=)
c.3380G= (p.Arg1127=)
n.2466G=
n.233G=
c.3524G= (p.Arg1175=)
c.3521G= (p.Arg1174=)
c.2468G= (p.Arg823=)
c.3314G= (p.Arg1105=)
c.2834G= (p.Arg945=)
12g.47976867C>GCA384538924COL2A1c.3173G>C (p.Arg1058Thr)
c.3380G>C (p.Arg1127Thr)
n.2466G>C
n.233G>C
c.3524G>C (p.Arg1175Thr)
c.3521G>C (p.Arg1174Thr)
c.2468G>C (p.Arg823Thr)
c.3314G>C (p.Arg1105Thr)
c.2834G>C (p.Arg945Thr)
12g.47976867C>TCA6534776COL2A1c.3173G>A (p.Arg1058Lys)
c.3380G>A (p.Arg1127Lys)
n.2466G>A
n.233G>A
c.3524G>A (p.Arg1175Lys)
c.3521G>A (p.Arg1174Lys)
c.2468G>A (p.Arg823Lys)
c.3314G>A (p.Arg1105Lys)
c.2834G>A (p.Arg945Lys)
 dbSNP ExAC gnomAD v2
12g.47976868T>ACA384538928COL2A1c.3172A>T (p.Arg1058Ter)
c.3379A>T (p.Arg1127Ter)
n.2465A>T
n.232A>T
c.3523A>T (p.Arg1175Ter)
c.3520A>T (p.Arg1174Ter)
c.2467A>T (p.Arg823Ter)
c.3313A>T (p.Arg1105Ter)
c.2833A>T (p.Arg945Ter)
12g.47976868T>CCA384538931COL2A1c.3172A>G (p.Arg1058Gly)
c.3379A>G (p.Arg1127Gly)
n.2465A>G
n.232A>G
c.3523A>G (p.Arg1175Gly)
c.3520A>G (p.Arg1174Gly)
c.2467A>G (p.Arg823Gly)
c.3313A>G (p.Arg1105Gly)
c.2833A>G (p.Arg945Gly)
12g.47976868T>GCA479452387COL2A1c.3172A>C (p.Arg1058=)
c.3379A>C (p.Arg1127=)
n.2465A>C
n.232A>C
c.3523A>C (p.Arg1175=)
c.3520A>C (p.Arg1174=)
c.2467A>C (p.Arg823=)
c.3313A>C (p.Arg1105=)
c.2833A>C (p.Arg945=)
12g.47976869C>ACA384538935COL2A1c.3171G>T (p.Glu1057Asp)
c.3378G>T (p.Glu1126Asp)
n.2464G>T
n.231G>T
c.3522G>T (p.Glu1174Asp)
c.3519G>T (p.Glu1173Asp)
c.2466G>T (p.Glu822Asp)
c.3312G>T (p.Glu1104Asp)
c.2832G>T (p.Glu944Asp)
12g.47976869C=CA2034476002COL2A1c.3171G= (p.Glu1057=)
c.3378G= (p.Glu1126=)
n.2464G=
n.231G=
c.3522G= (p.Glu1174=)
c.3519G= (p.Glu1173=)
c.2466G= (p.Glu822=)
c.3312G= (p.Glu1104=)
c.2832G= (p.Glu944=)
12g.47976869C>GCA384538937COL2A1c.3171G>C (p.Glu1057Asp)
c.3378G>C (p.Glu1126Asp)
n.2464G>C
n.231G>C
c.3522G>C (p.Glu1174Asp)
c.3519G>C (p.Glu1173Asp)
c.2466G>C (p.Glu822Asp)
c.3312G>C (p.Glu1104Asp)
c.2832G>C (p.Glu944Asp)
 ClinVar dbSNP
12g.47976869C>TCA479452396COL2A1c.3171G>A (p.Glu1057=)
c.3378G>A (p.Glu1126=)
n.2464G>A
n.231G>A
c.3522G>A (p.Glu1174=)
c.3519G>A (p.Glu1173=)
c.2466G>A (p.Glu822=)
c.3312G>A (p.Glu1104=)
c.2832G>A (p.Glu944=)
 dbSNP gnomAD v2
12g.47976870T>ACA384538947COL2A1c.3170A>T (p.Glu1057Val)
c.3377A>T (p.Glu1126Val)
n.2463A>T
n.230A>T
c.3521A>T (p.Glu1174Val)
c.3518A>T (p.Glu1173Val)
c.2465A>T (p.Glu822Val)
c.3311A>T (p.Glu1104Val)
c.2831A>T (p.Glu944Val)
12g.47976870T>CCA384538944COL2A1c.3170A>G (p.Glu1057Gly)
c.3377A>G (p.Glu1126Gly)
n.2463A>G
n.230A>G
c.3521A>G (p.Glu1174Gly)
c.3518A>G (p.Glu1173Gly)
c.2465A>G (p.Glu822Gly)
c.3311A>G (p.Glu1104Gly)
c.2831A>G (p.Glu944Gly)
12g.47976870T>GCA384538941COL2A1c.3170A>C (p.Glu1057Ala)
c.3377A>C (p.Glu1126Ala)
n.2463A>C
n.230A>C
c.3521A>C (p.Glu1174Ala)
c.3518A>C (p.Glu1173Ala)
c.2465A>C (p.Glu822Ala)
c.3311A>C (p.Glu1104Ala)
c.2831A>C (p.Glu944Ala)
12g.47976871C>ACA384538951COL2A1c.3169G>T (p.Glu1057Ter)
c.3376G>T (p.Glu1126Ter)
n.2462G>T
n.229G>T
c.3520G>T (p.Glu1174Ter)
c.3517G>T (p.Glu1173Ter)
c.2464G>T (p.Glu822Ter)
c.3310G>T (p.Glu1104Ter)
c.2830G>T (p.Glu944Ter)
12g.47976871C=CA2034476011COL2A1c.3169G= (p.Glu1057=)
c.3376G= (p.Glu1126=)
n.2462G=
n.229G=
c.3520G= (p.Glu1174=)
c.3517G= (p.Glu1173=)
c.2464G= (p.Glu822=)
c.3310G= (p.Glu1104=)
c.2830G= (p.Glu944=)
12g.47976871C>GCA384538953COL2A1c.3169G>C (p.Glu1057Gln)
c.3376G>C (p.Glu1126Gln)
n.2462G>C
n.229G>C
c.3520G>C (p.Glu1174Gln)
c.3517G>C (p.Glu1173Gln)
c.2464G>C (p.Glu822Gln)
c.3310G>C (p.Glu1104Gln)
c.2830G>C (p.Glu944Gln)
12g.47976871C>TCA6534777COL2A1c.3169G>A (p.Glu1057Lys)
c.3376G>A (p.Glu1126Lys)
n.2462G>A
n.229G>A
c.3520G>A (p.Glu1174Lys)
c.3517G>A (p.Glu1173Lys)
c.2464G>A (p.Glu822Lys)
c.3310G>A (p.Glu1104Lys)
c.2830G>A (p.Glu944Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47976872G>ACA6534778COL2A1c.3168C>T (p.Gly1056=)
c.3375C>T (p.Gly1125=)
n.2461C>T
n.228C>T
c.3519C>T (p.Gly1173=)
c.3516C>T (p.Gly1172=)
c.2463C>T (p.Gly821=)
c.3309C>T (p.Gly1103=)
c.2829C>T (p.Gly943=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976872G>CCA479452409COL2A1c.3168C>G (p.Gly1056=)
c.3375C>G (p.Gly1125=)
n.2461C>G
n.228C>G
c.3519C>G (p.Gly1173=)
c.3516C>G (p.Gly1172=)
c.2463C>G (p.Gly821=)
c.3309C>G (p.Gly1103=)
c.2829C>G (p.Gly943=)
12g.47976872G=CA2034476019COL2A1c.3168C= (p.Gly1056=)
c.3375C= (p.Gly1125=)
n.2461C=
n.228C=
c.3519C= (p.Gly1173=)
c.3516C= (p.Gly1172=)
c.2463C= (p.Gly821=)
c.3309C= (p.Gly1103=)
c.2829C= (p.Gly943=)
12g.47976872G>TCA479452410COL2A1c.3168C>A (p.Gly1056=)
c.3375C>A (p.Gly1125=)
n.2461C>A
n.228C>A
c.3519C>A (p.Gly1173=)
c.3516C>A (p.Gly1172=)
c.2463C>A (p.Gly821=)
c.3309C>A (p.Gly1103=)
c.2829C>A (p.Gly943=)
12g.47976873C>ACA384538959COL2A1c.3167G>T (p.Gly1056Val)
c.3374G>T (p.Gly1125Val)
n.2460G>T
n.227G>T
c.3518G>T (p.Gly1173Val)
c.3515G>T (p.Gly1172Val)
c.2462G>T (p.Gly821Val)
c.3308G>T (p.Gly1103Val)
c.2828G>T (p.Gly943Val)
12g.47976873C>GCA384538962COL2A1c.3167G>C (p.Gly1056Ala)
c.3374G>C (p.Gly1125Ala)
n.2460G>C
n.227G>C
c.3518G>C (p.Gly1173Ala)
c.3515G>C (p.Gly1172Ala)
c.2462G>C (p.Gly821Ala)
c.3308G>C (p.Gly1103Ala)
c.2828G>C (p.Gly943Ala)
12g.47976873C>TCA384538965COL2A1c.3167G>A (p.Gly1056Asp)
c.3374G>A (p.Gly1125Asp)
n.2460G>A
n.227G>A
c.3518G>A (p.Gly1173Asp)
c.3515G>A (p.Gly1172Asp)
c.2462G>A (p.Gly821Asp)
c.3308G>A (p.Gly1103Asp)
c.2828G>A (p.Gly943Asp)
12g.47976874C>ACA384538966COL2A1c.3166G>T (p.Gly1056Cys)
c.3373G>T (p.Gly1125Cys)
n.2459G>T
n.226G>T
c.3517G>T (p.Gly1173Cys)
c.3514G>T (p.Gly1172Cys)
c.2461G>T (p.Gly821Cys)
c.3307G>T (p.Gly1103Cys)
c.2827G>T (p.Gly943Cys)
12g.47976874C>GCA384538969COL2A1c.3166G>C (p.Gly1056Arg)
c.3373G>C (p.Gly1125Arg)
n.2459G>C
n.226G>C
c.3517G>C (p.Gly1173Arg)
c.3514G>C (p.Gly1172Arg)
c.2461G>C (p.Gly821Arg)
c.3307G>C (p.Gly1103Arg)
c.2827G>C (p.Gly943Arg)
12g.47976874C>TCA384538971COL2A1c.3166G>A (p.Gly1056Ser)
c.3373G>A (p.Gly1125Ser)
n.2459G>A
n.226G>A
c.3517G>A (p.Gly1173Ser)
c.3514G>A (p.Gly1172Ser)
c.2461G>A (p.Gly821Ser)
c.3307G>A (p.Gly1103Ser)
c.2827G>A (p.Gly943Ser)
 ClinVar
12g.47976875A=CA2034476025COL2A1c.3165T= (p.Pro1055=)
c.3372T= (p.Pro1124=)
n.2458T=
n.225T=
c.3516T= (p.Pro1172=)
c.3513T= (p.Pro1171=)
c.2460T= (p.Pro820=)
c.3306T= (p.Pro1102=)
c.2826T= (p.Pro942=)
12g.47976875A>CCA479452423COL2A1c.3165T>G (p.Pro1055=)
c.3372T>G (p.Pro1124=)
n.2458T>G
n.225T>G
c.3516T>G (p.Pro1172=)
c.3513T>G (p.Pro1171=)
c.2460T>G (p.Pro820=)
c.3306T>G (p.Pro1102=)
c.2826T>G (p.Pro942=)
 dbSNP
12g.47976875A>GCA479452425COL2A1c.3165T>C (p.Pro1055=)
c.3372T>C (p.Pro1124=)
n.2458T>C
n.225T>C
c.3516T>C (p.Pro1172=)
c.3513T>C (p.Pro1171=)
c.2460T>C (p.Pro820=)
c.3306T>C (p.Pro1102=)
c.2826T>C (p.Pro942=)
12g.47976875A>TCA479452426COL2A1c.3165T>A (p.Pro1055=)
c.3372T>A (p.Pro1124=)
n.2458T>A
n.225T>A
c.3516T>A (p.Pro1172=)
c.3513T>A (p.Pro1171=)
c.2460T>A (p.Pro820=)
c.3306T>A (p.Pro1102=)
c.2826T>A (p.Pro942=)
 gnomAD v4
12g.47976876G>ACA384538976COL2A1c.3164C>T (p.Pro1055Leu)
c.3371C>T (p.Pro1124Leu)
n.2457C>T
n.224C>T
c.3515C>T (p.Pro1172Leu)
c.3512C>T (p.Pro1171Leu)
c.2459C>T (p.Pro820Leu)
c.3305C>T (p.Pro1102Leu)
c.2825C>T (p.Pro942Leu)
12g.47976876G>CCA384538979COL2A1c.3164C>G (p.Pro1055Arg)
c.3371C>G (p.Pro1124Arg)
n.2457C>G
n.224C>G
c.3515C>G (p.Pro1172Arg)
c.3512C>G (p.Pro1171Arg)
c.2459C>G (p.Pro820Arg)
c.3305C>G (p.Pro1102Arg)
c.2825C>G (p.Pro942Arg)
12g.47976876G>TCA384538982COL2A1c.3164C>A (p.Pro1055His)
c.3371C>A (p.Pro1124His)
n.2457C>A
n.224C>A
c.3515C>A (p.Pro1172His)
c.3512C>A (p.Pro1171His)
c.2459C>A (p.Pro820His)
c.3305C>A (p.Pro1102His)
c.2825C>A (p.Pro942His)
12g.47976877G>ACA384538989COL2A1c.3163C>T (p.Pro1055Ser)
c.3370C>T (p.Pro1124Ser)
n.2456C>T
n.223C>T
c.3514C>T (p.Pro1172Ser)
c.3511C>T (p.Pro1171Ser)
c.2458C>T (p.Pro820Ser)
c.3304C>T (p.Pro1102Ser)
c.2824C>T (p.Pro942Ser)
12g.47976877G>CCA384538992COL2A1c.3163C>G (p.Pro1055Ala)
c.3370C>G (p.Pro1124Ala)
n.2456C>G
n.223C>G
c.3514C>G (p.Pro1172Ala)
c.3511C>G (p.Pro1171Ala)
c.2458C>G (p.Pro820Ala)
c.3304C>G (p.Pro1102Ala)
c.2824C>G (p.Pro942Ala)
12g.47976877G>TCA384538986COL2A1c.3163C>A (p.Pro1055Thr)
c.3370C>A (p.Pro1124Thr)
n.2456C>A
n.223C>A
c.3514C>A (p.Pro1172Thr)
c.3511C>A (p.Pro1171Thr)
c.2458C>A (p.Pro820Thr)
c.3304C>A (p.Pro1102Thr)
c.2824C>A (p.Pro942Thr)
12g.47976878C>ACA384538997COL2A1c.3162G>T (p.Glu1054Asp)
c.3369G>T (p.Glu1123Asp)
n.2455G>T
n.222G>T
c.3513G>T (p.Glu1171Asp)
c.3510G>T (p.Glu1170Asp)
c.2457G>T (p.Glu819Asp)
c.3303G>T (p.Glu1101Asp)
c.2823G>T (p.Glu941Asp)
12g.47976878C>GCA384538995COL2A1c.3162G>C (p.Glu1054Asp)
c.3369G>C (p.Glu1123Asp)
n.2455G>C
n.222G>C
c.3513G>C (p.Glu1171Asp)
c.3510G>C (p.Glu1170Asp)
c.2457G>C (p.Glu819Asp)
c.3303G>C (p.Glu1101Asp)
c.2823G>C (p.Glu941Asp)
12g.47976878C>TCA479452448COL2A1c.3162G>A (p.Glu1054=)
c.3369G>A (p.Glu1123=)
n.2455G>A
n.222G>A
c.3513G>A (p.Glu1171=)
c.3510G>A (p.Glu1170=)
c.2457G>A (p.Glu819=)
c.3303G>A (p.Glu1101=)
c.2823G>A (p.Glu941=)
 gnomAD v4
12g.47976879T>ACA384539008COL2A1c.3161A>T (p.Glu1054Val)
c.3368A>T (p.Glu1123Val)
n.2454A>T
n.221A>T
c.3512A>T (p.Glu1171Val)
c.3509A>T (p.Glu1170Val)
c.2456A>T (p.Glu819Val)
c.3302A>T (p.Glu1101Val)
c.2822A>T (p.Glu941Val)
12g.47976879T>CCA384539001COL2A1c.3161A>G (p.Glu1054Gly)
c.3368A>G (p.Glu1123Gly)
n.2454A>G
n.221A>G
c.3512A>G (p.Glu1171Gly)
c.3509A>G (p.Glu1170Gly)
c.2456A>G (p.Glu819Gly)
c.3302A>G (p.Glu1101Gly)
c.2822A>G (p.Glu941Gly)
12g.47976879T>GCA384539005COL2A1c.3161A>C (p.Glu1054Ala)
c.3368A>C (p.Glu1123Ala)
n.2454A>C
n.221A>C
c.3512A>C (p.Glu1171Ala)
c.3509A>C (p.Glu1170Ala)
c.2456A>C (p.Glu819Ala)
c.3302A>C (p.Glu1101Ala)
c.2822A>C (p.Glu941Ala)
12g.47976880C>ACA384539012COL2A1c.3160G>T (p.Glu1054Ter)
c.3367G>T (p.Glu1123Ter)
n.2453G>T
n.220G>T
c.3511G>T (p.Glu1171Ter)
c.3508G>T (p.Glu1170Ter)
c.2455G>T (p.Glu819Ter)
c.3301G>T (p.Glu1101Ter)
c.2821G>T (p.Glu941Ter)
12g.47976880C>GCA384539014COL2A1c.3160G>C (p.Glu1054Gln)
c.3367G>C (p.Glu1123Gln)
n.2453G>C
n.220G>C
c.3511G>C (p.Glu1171Gln)
c.3508G>C (p.Glu1170Gln)
c.2455G>C (p.Glu819Gln)
c.3301G>C (p.Glu1101Gln)
c.2821G>C (p.Glu941Gln)
12g.47976880C>TCA384539017COL2A1c.3160G>A (p.Glu1054Lys)
c.3367G>A (p.Glu1123Lys)
n.2453G>A
n.220G>A
c.3511G>A (p.Glu1171Lys)
c.3508G>A (p.Glu1170Lys)
c.2455G>A (p.Glu819Lys)
c.3301G>A (p.Glu1101Lys)
c.2821G>A (p.Glu941Lys)
12g.47976881T>ACA479452464COL2A1c.3159A>T (p.Gly1053=)
c.3366A>T (p.Gly1122=)
n.2452A>T
n.219A>T
c.3510A>T (p.Gly1170=)
c.3507A>T (p.Gly1169=)
c.2454A>T (p.Gly818=)
c.3300A>T (p.Gly1100=)
c.2820A>T (p.Gly940=)
12g.47976881T>CCA479452466COL2A1c.3159A>G (p.Gly1053=)
c.3366A>G (p.Gly1122=)
n.2452A>G
n.219A>G
c.3510A>G (p.Gly1170=)
c.3507A>G (p.Gly1169=)
c.2454A>G (p.Gly818=)
c.3300A>G (p.Gly1100=)
c.2820A>G (p.Gly940=)
 dbSNP
12g.47976881T>GCA479452468COL2A1c.3159A>C (p.Gly1053=)
c.3366A>C (p.Gly1122=)
n.2452A>C
n.219A>C
c.3510A>C (p.Gly1170=)
c.3507A>C (p.Gly1169=)
c.2454A>C (p.Gly818=)
c.3300A>C (p.Gly1100=)
c.2820A>C (p.Gly940=)
12g.47976881T=CA2034476030COL2A1c.3159A= (p.Gly1053=)
c.3366A= (p.Gly1122=)
n.2452A=
n.219A=
c.3510A= (p.Gly1170=)
c.3507A= (p.Gly1169=)
c.2454A= (p.Gly818=)
c.3300A= (p.Gly1100=)
c.2820A= (p.Gly940=)
12g.47976882C>ACA384539018COL2A1c.3158G>T (p.Gly1053Val)
c.3365G>T (p.Gly1122Val)
n.2451G>T
n.218G>T
c.3509G>T (p.Gly1170Val)
c.3506G>T (p.Gly1169Val)
c.2453G>T (p.Gly818Val)
c.3299G>T (p.Gly1100Val)
c.2819G>T (p.Gly940Val)
12g.47976882C=CA2034476033COL2A1c.3158G= (p.Gly1053=)
c.3365G= (p.Gly1122=)
n.2451G=
n.218G=
c.3509G= (p.Gly1170=)
c.3506G= (p.Gly1169=)
c.2453G= (p.Gly818=)
c.3299G= (p.Gly1100=)
c.2819G= (p.Gly940=)
12g.47976882C>GCA384539019COL2A1c.3158G>C (p.Gly1053Ala)
c.3365G>C (p.Gly1122Ala)
n.2451G>C
n.218G>C
c.3509G>C (p.Gly1170Ala)
c.3506G>C (p.Gly1169Ala)
c.2453G>C (p.Gly818Ala)
c.3299G>C (p.Gly1100Ala)
c.2819G>C (p.Gly940Ala)
 dbSNP
12g.47976882C>TCA384539020COL2A1c.3158G>A (p.Gly1053Glu)
c.3365G>A (p.Gly1122Glu)
n.2451G>A
n.218G>A
c.3509G>A (p.Gly1170Glu)
c.3506G>A (p.Gly1169Glu)
c.2453G>A (p.Gly818Glu)
c.3299G>A (p.Gly1100Glu)
c.2819G>A (p.Gly940Glu)
 ClinVar dbSNP
12g.47976883C>ACA384539023COL2A1c.3157G>T (p.Gly1053Ter)
c.3364G>T (p.Gly1122Ter)
n.2450G>T
n.217G>T
c.3508G>T (p.Gly1170Ter)
c.3505G>T (p.Gly1169Ter)
c.2452G>T (p.Gly818Ter)
c.3298G>T (p.Gly1100Ter)
c.2818G>T (p.Gly940Ter)
 COSMIC COSMIC
12g.47976883C>GCA384539026COL2A1c.3157G>C (p.Gly1053Arg)
c.3364G>C (p.Gly1122Arg)
n.2450G>C
n.217G>C
c.3508G>C (p.Gly1170Arg)
c.3505G>C (p.Gly1169Arg)
c.2452G>C (p.Gly818Arg)
c.3298G>C (p.Gly1100Arg)
c.2818G>C (p.Gly940Arg)
12g.47976883C>TCA384539028COL2A1c.3157G>A (p.Gly1053Arg)
c.3364G>A (p.Gly1122Arg)
n.2450G>A
n.217G>A
c.3508G>A (p.Gly1170Arg)
c.3505G>A (p.Gly1169Arg)
c.2452G>A (p.Gly818Arg)
c.3298G>A (p.Gly1100Arg)
c.2818G>A (p.Gly940Arg)
 ClinVar
12g.47976884A>CCA479452478COL2A1c.3156T>G (p.Ala1052=)
c.3363T>G (p.Ala1121=)
n.2449T>G
n.216T>G
c.3507T>G (p.Ala1169=)
c.3504T>G (p.Ala1168=)
c.2451T>G (p.Ala817=)
c.3297T>G (p.Ala1099=)
c.2817T>G (p.Ala939=)
12g.47976884A>GCA479452480COL2A1c.3156T>C (p.Ala1052=)
c.3363T>C (p.Ala1121=)
n.2449T>C
n.216T>C
c.3507T>C (p.Ala1169=)
c.3504T>C (p.Ala1168=)
c.2451T>C (p.Ala817=)
c.3297T>C (p.Ala1099=)
c.2817T>C (p.Ala939=)
 gnomAD v4
12g.47976884A>TCA479452482COL2A1c.3156T>A (p.Ala1052=)
c.3363T>A (p.Ala1121=)
n.2449T>A
n.216T>A
c.3507T>A (p.Ala1169=)
c.3504T>A (p.Ala1168=)
c.2451T>A (p.Ala817=)
c.3297T>A (p.Ala1099=)
c.2817T>A (p.Ala939=)
12g.47976884dupCA2580615168COL2A1c.3156dup (p.Gly1053TrpfsTer?)
c.3363dup (p.Gly1122TrpfsTer?)
n.2449dup
n.216dup
c.3507dup (p.Gly1170TrpfsTer?)
c.3504dup (p.Gly1169TrpfsTer?)
c.2451dup (p.Gly818TrpfsTer?)
c.3297dup (p.Gly1100TrpfsTer?)
c.2817dup (p.Gly940TrpfsTer?)
 ClinVar
12g.47976885G>ACA384539035COL2A1c.3155C>T (p.Ala1052Val)
c.3362C>T (p.Ala1121Val)
n.2448C>T
n.215C>T
c.3506C>T (p.Ala1169Val)
c.3503C>T (p.Ala1168Val)
c.2450C>T (p.Ala817Val)
c.3296C>T (p.Ala1099Val)
c.2816C>T (p.Ala939Val)
12g.47976885G>CCA384539033COL2A1c.3155C>G (p.Ala1052Gly)
c.3362C>G (p.Ala1121Gly)
n.2448C>G
n.215C>G
c.3506C>G (p.Ala1169Gly)
c.3503C>G (p.Ala1168Gly)
c.2450C>G (p.Ala817Gly)
c.3296C>G (p.Ala1099Gly)
c.2816C>G (p.Ala939Gly)
12g.47976885G>TCA384539031COL2A1c.3155C>A (p.Ala1052Asp)
c.3362C>A (p.Ala1121Asp)
n.2448C>A
n.215C>A
c.3506C>A (p.Ala1169Asp)
c.3503C>A (p.Ala1168Asp)
c.2450C>A (p.Ala817Asp)
c.3296C>A (p.Ala1099Asp)
c.2816C>A (p.Ala939Asp)
12g.47976886C>ACA384539037COL2A1c.3154G>T (p.Ala1052Ser)
c.3361G>T (p.Ala1121Ser)
n.2447G>T
n.214G>T
c.3505G>T (p.Ala1169Ser)
c.3502G>T (p.Ala1168Ser)
c.2449G>T (p.Ala817Ser)
c.3295G>T (p.Ala1099Ser)
c.2815G>T (p.Ala939Ser)
12g.47976886C>GCA384539039COL2A1c.3154G>C (p.Ala1052Pro)
c.3361G>C (p.Ala1121Pro)
n.2447G>C
n.214G>C
c.3505G>C (p.Ala1169Pro)
c.3502G>C (p.Ala1168Pro)
c.2449G>C (p.Ala817Pro)
c.3295G>C (p.Ala1099Pro)
c.2815G>C (p.Ala939Pro)
12g.47976886C>TCA384539041COL2A1c.3154G>A (p.Ala1052Thr)
c.3361G>A (p.Ala1121Thr)
n.2447G>A
n.214G>A
c.3505G>A (p.Ala1169Thr)
c.3502G>A (p.Ala1168Thr)
c.2449G>A (p.Ala817Thr)
c.3295G>A (p.Ala1099Thr)
c.2815G>A (p.Ala939Thr)
12g.47976887C>ACA384539042COL2A1c.3153G>T (p.Glu1051Asp)
c.3360G>T (p.Glu1120Asp)
n.2446G>T
n.213G>T
c.3504G>T (p.Glu1168Asp)
c.3501G>T (p.Glu1167Asp)
c.2448G>T (p.Glu816Asp)
c.3294G>T (p.Glu1098Asp)
c.2814G>T (p.Glu938Asp)
 gnomAD v4
12g.47976887C=CA2034476035COL2A1c.3153G= (p.Glu1051=)
c.3360G= (p.Glu1120=)
n.2446G=
n.213G=
c.3504G= (p.Glu1168=)
c.3501G= (p.Glu1167=)
c.2448G= (p.Glu816=)
c.3294G= (p.Glu1098=)
c.2814G= (p.Glu938=)
12g.47976887C>GCA384539044COL2A1c.3153G>C (p.Glu1051Asp)
c.3360G>C (p.Glu1120Asp)
n.2446G>C
n.213G>C
c.3504G>C (p.Glu1168Asp)
c.3501G>C (p.Glu1167Asp)
c.2448G>C (p.Glu816Asp)
c.3294G>C (p.Glu1098Asp)
c.2814G>C (p.Glu938Asp)
 dbSNP gnomAD v2 gnomAD v4
12g.47976887C>TCA479452498COL2A1c.3153G>A (p.Glu1051=)
c.3360G>A (p.Glu1120=)
n.2446G>A
n.213G>A
c.3504G>A (p.Glu1168=)
c.3501G>A (p.Glu1167=)
c.2448G>A (p.Glu816=)
c.3294G>A (p.Glu1098=)
c.2814G>A (p.Glu938=)
12g.47976888T>ACA384539045COL2A1c.3152A>T (p.Glu1051Val)
c.3359A>T (p.Glu1120Val)
n.2445A>T
n.212A>T
c.3503A>T (p.Glu1168Val)
c.3500A>T (p.Glu1167Val)
c.2447A>T (p.Glu816Val)
c.3293A>T (p.Glu1098Val)
c.2813A>T (p.Glu938Val)
12g.47976888T>CCA384539047COL2A1c.3152A>G (p.Glu1051Gly)
c.3359A>G (p.Glu1120Gly)
n.2445A>G
n.212A>G
c.3503A>G (p.Glu1168Gly)
c.3500A>G (p.Glu1167Gly)
c.2447A>G (p.Glu816Gly)
c.3293A>G (p.Glu1098Gly)
c.2813A>G (p.Glu938Gly)
12g.47976888T>GCA384539049COL2A1c.3152A>C (p.Glu1051Ala)
c.3359A>C (p.Glu1120Ala)
n.2445A>C
n.212A>C
c.3503A>C (p.Glu1168Ala)
c.3500A>C (p.Glu1167Ala)
c.2447A>C (p.Glu816Ala)
c.3293A>C (p.Glu1098Ala)
c.2813A>C (p.Glu938Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.47976888T=CA2034476039COL2A1c.3152A= (p.Glu1051=)
c.3359A= (p.Glu1120=)
n.2445A=
n.212A=
c.3503A= (p.Glu1168=)
c.3500A= (p.Glu1167=)
c.2447A= (p.Glu816=)
c.3293A= (p.Glu1098=)
c.2813A= (p.Glu938=)
12g.47976889C>ACA384539050COL2A1c.3151G>T (p.Glu1051Ter)
c.3358G>T (p.Glu1120Ter)
n.2444G>T
n.211G>T
c.3502G>T (p.Glu1168Ter)
c.3499G>T (p.Glu1167Ter)
c.2446G>T (p.Glu816Ter)
c.3292G>T (p.Glu1098Ter)
c.2812G>T (p.Glu938Ter)
12g.47976889C=CA2034476044COL2A1c.3151G= (p.Glu1051=)
c.3358G= (p.Glu1120=)
n.2444G=
n.211G=
c.3502G= (p.Glu1168=)
c.3499G= (p.Glu1167=)
c.2446G= (p.Glu816=)
c.3292G= (p.Glu1098=)
c.2812G= (p.Glu938=)
12g.47976889C>GCA384539051COL2A1c.3151G>C (p.Glu1051Gln)
c.3358G>C (p.Glu1120Gln)
n.2444G>C
n.211G>C
c.3502G>C (p.Glu1168Gln)
c.3499G>C (p.Glu1167Gln)
c.2446G>C (p.Glu816Gln)
c.3292G>C (p.Glu1098Gln)
c.2812G>C (p.Glu938Gln)
12g.47976889C>TCA384539052COL2A1c.3151G>A (p.Glu1051Lys)
c.3358G>A (p.Glu1120Lys)
n.2444G>A
n.211G>A
c.3502G>A (p.Glu1168Lys)
c.3499G>A (p.Glu1167Lys)
c.2446G>A (p.Glu816Lys)
c.3292G>A (p.Glu1098Lys)
c.2812G>A (p.Glu938Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47976889_47976890insAGCA281464COL2A1c.3150_3151insCT (p.Glu1051LeufsTer11)
c.3357_3358insCT (p.Glu1120LeufsTer11)
n.2443_2444insCT
n.210_211insCT
c.3501_3502insCT (p.Glu1168LeufsTer11)
c.3498_3499insCT (p.Glu1167LeufsTer11)
c.2445_2446insCT (p.Glu816LeufsTer11)
c.3291_3292insCT (p.Glu1098LeufsTer11)
c.2811_2812insCT (p.Glu938LeufsTer11)
 ClinVar dbSNP
12g.47976890T>ACA479452524COL2A1c.3150A>T (p.Gly1050=)
c.3357A>T (p.Gly1119=)
n.2443A>T
n.210A>T
c.3501A>T (p.Gly1167=)
c.3498A>T (p.Gly1166=)
c.2445A>T (p.Gly815=)
c.3291A>T (p.Gly1097=)
c.2811A>T (p.Gly937=)
12g.47976890T>CCA479452528COL2A1c.3150A>G (p.Gly1050=)
c.3357A>G (p.Gly1119=)
n.2443A>G
n.210A>G
c.3501A>G (p.Gly1167=)
c.3498A>G (p.Gly1166=)
c.2445A>G (p.Gly815=)
c.3291A>G (p.Gly1097=)
c.2811A>G (p.Gly937=)
12g.47976890T>GCA479452522COL2A1c.3150A>C (p.Gly1050=)
c.3357A>C (p.Gly1119=)
n.2443A>C
n.210A>C
c.3501A>C (p.Gly1167=)
c.3498A>C (p.Gly1166=)
c.2445A>C (p.Gly815=)
c.3291A>C (p.Gly1097=)
c.2811A>C (p.Gly937=)
12g.47976890_47976891delinsTCCA2034476055COL2A1c.3149_3150delinsGA (p.Gly1050=)
c.3356_3357delinsGA (p.Gly1119=)
n.2442_2443delinsGA
n.209_210delinsGA
c.3500_3501delinsGA (p.Gly1167=)
c.3497_3498delinsGA (p.Gly1166=)
c.2444_2445delinsGA (p.Gly815=)
c.3290_3291delinsGA (p.Gly1097=)
c.2810_2811delinsGA (p.Gly937=)

Number of alleles fetched