Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.102879659G>ACA2574448910COL11A1c.5274+24C>T (n.5274+24C>T)
n.647+24C>T
c.5157+24C>T (n.5157+24C>T)
c.5310+24C>T (n.5310+24C>T)
n.336+24C>T
c.4926+24C>T (n.4926+24C>T)
c.4608+24C>T
c.3507+24C>T (n.3507+24C>T)
c.2862+24C>T (n.2862+24C>T)
n.5608+24C>T
c.5427+24C>T (n.5427+24C>T)
c.5421+24C>T (n.5421+24C>T)
c.3825+24C>T (n.3825+24C>T)
n.5634+24C>T
1g.102879659G>TCA2646799542COL11A1c.5274+24C>A (n.5274+24C>A)
n.647+24C>A
c.5157+24C>A (n.5157+24C>A)
c.5310+24C>A (n.5310+24C>A)
n.336+24C>A
c.4926+24C>A (n.4926+24C>A)
c.4608+24C>A
c.3507+24C>A (n.3507+24C>A)
c.2862+24C>A (n.2862+24C>A)
n.5608+24C>A
c.5427+24C>A (n.5427+24C>A)
c.5421+24C>A (n.5421+24C>A)
c.3825+24C>A (n.3825+24C>A)
n.5634+24C>A
 gnomAD v4
1g.102879660A>GCA2744816520COL11A1c.5274+23T>C (n.5274+23T>C)
n.647+23T>C
c.5157+23T>C (n.5157+23T>C)
c.5310+23T>C (n.5310+23T>C)
n.336+23T>C
c.4926+23T>C (n.4926+23T>C)
c.4608+23T>C
c.3507+23T>C (n.3507+23T>C)
c.2862+23T>C (n.2862+23T>C)
n.5608+23T>C
c.5427+23T>C (n.5427+23T>C)
c.5421+23T>C (n.5421+23T>C)
c.3825+23T>C (n.3825+23T>C)
n.5634+23T>C
1g.102879661G>ACA2574448911COL11A1c.5274+22C>T (n.5274+22C>T)
n.647+22C>T
c.5157+22C>T (n.5157+22C>T)
c.5310+22C>T (n.5310+22C>T)
n.336+22C>T
c.4926+22C>T (n.4926+22C>T)
c.4608+22C>T
c.3507+22C>T (n.3507+22C>T)
c.2862+22C>T (n.2862+22C>T)
n.5608+22C>T
c.5427+22C>T (n.5427+22C>T)
c.5421+22C>T (n.5421+22C>T)
c.3825+22C>T (n.3825+22C>T)
n.5634+22C>T
 gnomAD v4
1g.102879661G>CCA2646799543COL11A1c.5274+22C>G (n.5274+22C>G)
n.647+22C>G
c.5157+22C>G (n.5157+22C>G)
c.5310+22C>G (n.5310+22C>G)
n.336+22C>G
c.4926+22C>G (n.4926+22C>G)
c.4608+22C>G
c.3507+22C>G (n.3507+22C>G)
c.2862+22C>G (n.2862+22C>G)
n.5608+22C>G
c.5427+22C>G (n.5427+22C>G)
c.5421+22C>G (n.5421+22C>G)
c.3825+22C>G (n.3825+22C>G)
n.5634+22C>G
 gnomAD v4
1g.102879661G>TCA2646799544COL11A1c.5274+22C>A (n.5274+22C>A)
n.647+22C>A
c.5157+22C>A (n.5157+22C>A)
c.5310+22C>A (n.5310+22C>A)
n.336+22C>A
c.4926+22C>A (n.4926+22C>A)
c.4608+22C>A
c.3507+22C>A (n.3507+22C>A)
c.2862+22C>A (n.2862+22C>A)
n.5608+22C>A
c.5427+22C>A (n.5427+22C>A)
c.5421+22C>A (n.5421+22C>A)
c.3825+22C>A (n.3825+22C>A)
n.5634+22C>A
 gnomAD v4
1g.102879663C>GCA2646799545COL11A1c.5274+20G>C (n.5274+20G>C)
n.647+20G>C
c.5157+20G>C (n.5157+20G>C)
c.5310+20G>C (n.5310+20G>C)
n.336+20G>C
c.4926+20G>C (n.4926+20G>C)
c.4608+20G>C
c.3507+20G>C (n.3507+20G>C)
c.2862+20G>C (n.2862+20G>C)
n.5608+20G>C
c.5427+20G>C (n.5427+20G>C)
c.5421+20G>C (n.5421+20G>C)
c.3825+20G>C (n.3825+20G>C)
n.5634+20G>C
 gnomAD v4
1g.102879666G>ACA1185227991COL11A1c.5274+17C>T (n.5274+17C>T)
n.647+17C>T
c.5157+17C>T (n.5157+17C>T)
c.5310+17C>T (n.5310+17C>T)
n.336+17C>T
c.4926+17C>T (n.4926+17C>T)
c.4608+17C>T
c.3507+17C>T (n.3507+17C>T)
c.2862+17C>T (n.2862+17C>T)
n.5608+17C>T
c.5427+17C>T (n.5427+17C>T)
c.5421+17C>T (n.5421+17C>T)
c.3825+17C>T (n.3825+17C>T)
n.5634+17C>T
 dbSNP gnomAD v4
1g.102879666G=CA1185227990COL11A1c.5274+17C= (n.5274+17C=)
n.647+17C=
c.5157+17C= (n.5157+17C=)
c.5310+17C= (n.5310+17C=)
n.336+17C=
c.4926+17C= (n.4926+17C=)
c.4608+17C=
c.3507+17C= (n.3507+17C=)
c.2862+17C= (n.2862+17C=)
n.5608+17C=
c.5427+17C= (n.5427+17C=)
c.5421+17C= (n.5421+17C=)
c.3825+17C= (n.3825+17C=)
n.5634+17C=
1g.102879666G>TCA2646799546COL11A1c.5274+17C>A (n.5274+17C>A)
n.647+17C>A
c.5157+17C>A (n.5157+17C>A)
c.5310+17C>A (n.5310+17C>A)
n.336+17C>A
c.4926+17C>A (n.4926+17C>A)
c.4608+17C>A
c.3507+17C>A (n.3507+17C>A)
c.2862+17C>A (n.2862+17C>A)
n.5608+17C>A
c.5427+17C>A (n.5427+17C>A)
c.5421+17C>A (n.5421+17C>A)
c.3825+17C>A (n.3825+17C>A)
n.5634+17C>A
 gnomAD v4
1g.102879667C>ACA2646799547COL11A1c.5274+16G>T (n.5274+16G>T)
n.647+16G>T
c.5157+16G>T (n.5157+16G>T)
c.5310+16G>T (n.5310+16G>T)
n.336+16G>T
c.4926+16G>T (n.4926+16G>T)
c.4608+16G>T
c.3507+16G>T (n.3507+16G>T)
c.2862+16G>T (n.2862+16G>T)
n.5608+16G>T
c.5427+16G>T (n.5427+16G>T)
c.5421+16G>T (n.5421+16G>T)
c.3825+16G>T (n.3825+16G>T)
n.5634+16G>T
 gnomAD v4
1g.102879667C=CA1185227992COL11A1c.5274+16G= (n.5274+16G=)
n.647+16G=
c.5157+16G= (n.5157+16G=)
c.5310+16G= (n.5310+16G=)
n.336+16G=
c.4926+16G= (n.4926+16G=)
c.4608+16G=
c.3507+16G= (n.3507+16G=)
c.2862+16G= (n.2862+16G=)
n.5608+16G=
c.5427+16G= (n.5427+16G=)
c.5421+16G= (n.5421+16G=)
c.3825+16G= (n.3825+16G=)
n.5634+16G=
1g.102879667C>GCA973272COL11A1c.5274+16G>C (n.5274+16G>C)
n.647+16G>C
c.5157+16G>C (n.5157+16G>C)
c.5310+16G>C (n.5310+16G>C)
n.336+16G>C
c.4926+16G>C (n.4926+16G>C)
c.4608+16G>C
c.3507+16G>C (n.3507+16G>C)
c.2862+16G>C (n.2862+16G>C)
n.5608+16G>C
c.5427+16G>C (n.5427+16G>C)
c.5421+16G>C (n.5421+16G>C)
c.3825+16G>C (n.3825+16G>C)
n.5634+16G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879669G>CCA973273COL11A1c.5274+14C>G (n.5274+14C>G)
n.647+14C>G
c.5157+14C>G (n.5157+14C>G)
c.5310+14C>G (n.5310+14C>G)
n.336+14C>G
c.4926+14C>G (n.4926+14C>G)
c.4608+14C>G
c.3507+14C>G (n.3507+14C>G)
c.2862+14C>G (n.2862+14C>G)
n.5608+14C>G
c.5427+14C>G (n.5427+14C>G)
c.5421+14C>G (n.5421+14C>G)
c.3825+14C>G (n.3825+14C>G)
n.5634+14C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879669G=CA1185227993COL11A1c.5274+14C= (n.5274+14C=)
n.647+14C=
c.5157+14C= (n.5157+14C=)
c.5310+14C= (n.5310+14C=)
n.336+14C=
c.4926+14C= (n.4926+14C=)
c.4608+14C=
c.3507+14C= (n.3507+14C=)
c.2862+14C= (n.2862+14C=)
n.5608+14C=
c.5427+14C= (n.5427+14C=)
c.5421+14C= (n.5421+14C=)
c.3825+14C= (n.3825+14C=)
n.5634+14C=
1g.102879669G>TCA2646799548COL11A1c.5274+14C>A (n.5274+14C>A)
n.647+14C>A
c.5157+14C>A (n.5157+14C>A)
c.5310+14C>A (n.5310+14C>A)
n.336+14C>A
c.4926+14C>A (n.4926+14C>A)
c.4608+14C>A
c.3507+14C>A (n.3507+14C>A)
c.2862+14C>A (n.2862+14C>A)
n.5608+14C>A
c.5427+14C>A (n.5427+14C>A)
c.5421+14C>A (n.5421+14C>A)
c.3825+14C>A (n.3825+14C>A)
n.5634+14C>A
 gnomAD v4
1g.102879671A>GCA2543870491COL11A1c.5274+12T>C (n.5274+12T>C)
n.647+12T>C
c.5157+12T>C (n.5157+12T>C)
c.5310+12T>C (n.5310+12T>C)
n.336+12T>C
c.4926+12T>C (n.4926+12T>C)
c.4608+12T>C
c.3507+12T>C (n.3507+12T>C)
c.2862+12T>C (n.2862+12T>C)
n.5608+12T>C
c.5427+12T>C (n.5427+12T>C)
c.5421+12T>C (n.5421+12T>C)
c.3825+12T>C (n.3825+12T>C)
n.5634+12T>C
1g.102879672C>ACA524989855COL11A1c.5274+11G>T (n.5274+11G>T)
n.647+11G>T
c.5157+11G>T (n.5157+11G>T)
c.5310+11G>T (n.5310+11G>T)
n.336+11G>T
c.4926+11G>T (n.4926+11G>T)
c.4608+11G>T
c.3507+11G>T (n.3507+11G>T)
c.2862+11G>T (n.2862+11G>T)
n.5608+11G>T
c.5427+11G>T (n.5427+11G>T)
c.5421+11G>T (n.5421+11G>T)
c.3825+11G>T (n.3825+11G>T)
n.5634+11G>T
 dbSNP gnomAD v2 gnomAD v4
1g.102879672C=CA1148022283COL11A1c.5274+11G= (n.5274+11G=)
n.647+11G=
c.5157+11G= (n.5157+11G=)
c.5310+11G= (n.5310+11G=)
n.336+11G=
c.4926+11G= (n.4926+11G=)
c.4608+11G=
c.3507+11G= (n.3507+11G=)
c.2862+11G= (n.2862+11G=)
n.5608+11G=
c.5427+11G= (n.5427+11G=)
c.5421+11G= (n.5421+11G=)
c.3825+11G= (n.3825+11G=)
n.5634+11G=
1g.102879672C>GCA2739275148COL11A1c.5274+11G>C (n.5274+11G>C)
n.647+11G>C
c.5157+11G>C (n.5157+11G>C)
c.5310+11G>C (n.5310+11G>C)
n.336+11G>C
c.4926+11G>C (n.4926+11G>C)
c.4608+11G>C
c.3507+11G>C (n.3507+11G>C)
c.2862+11G>C (n.2862+11G>C)
n.5608+11G>C
c.5427+11G>C (n.5427+11G>C)
c.5421+11G>C (n.5421+11G>C)
c.3825+11G>C (n.3825+11G>C)
n.5634+11G>C
 ClinVar
1g.102879672C>TCA973274COL11A1c.5274+11G>A (n.5274+11G>A)
n.647+11G>A
c.5157+11G>A (n.5157+11G>A)
c.5310+11G>A (n.5310+11G>A)
n.336+11G>A
c.4926+11G>A (n.4926+11G>A)
c.4608+11G>A
c.3507+11G>A (n.3507+11G>A)
c.2862+11G>A (n.2862+11G>A)
n.5608+11G>A
c.5427+11G>A (n.5427+11G>A)
c.5421+11G>A (n.5421+11G>A)
c.3825+11G>A (n.3825+11G>A)
n.5634+11G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102879673T>GCA645522834COL11A1c.5274+10A>C (n.5274+10A>C)
n.647+10A>C
c.5157+10A>C (n.5157+10A>C)
c.5310+10A>C (n.5310+10A>C)
n.336+10A>C
c.4926+10A>C (n.4926+10A>C)
c.4608+10A>C
c.3507+10A>C (n.3507+10A>C)
c.2862+10A>C (n.2862+10A>C)
n.5608+10A>C
c.5427+10A>C (n.5427+10A>C)
c.5421+10A>C (n.5421+10A>C)
c.3825+10A>C (n.3825+10A>C)
n.5634+10A>C
 gnomAD v4 COSMIC COSMIC
1g.102879675A=CA1185227994COL11A1c.5274+8T= (n.5274+8T=)
n.647+8T=
c.5157+8T= (n.5157+8T=)
c.5310+8T= (n.5310+8T=)
n.336+8T=
c.4926+8T= (n.4926+8T=)
c.4608+8T=
c.3507+8T= (n.3507+8T=)
c.2862+8T= (n.2862+8T=)
n.5608+8T=
c.5427+8T= (n.5427+8T=)
c.5421+8T= (n.5421+8T=)
c.3825+8T= (n.3825+8T=)
n.5634+8T=
1g.102879675A>TCA1185227995COL11A1c.5274+8T>A (n.5274+8T>A)
n.647+8T>A
c.5157+8T>A (n.5157+8T>A)
c.5310+8T>A (n.5310+8T>A)
n.336+8T>A
c.4926+8T>A (n.4926+8T>A)
c.4608+8T>A
c.3507+8T>A (n.3507+8T>A)
c.2862+8T>A (n.2862+8T>A)
n.5608+8T>A
c.5427+8T>A (n.5427+8T>A)
c.5421+8T>A (n.5421+8T>A)
c.3825+8T>A (n.3825+8T>A)
n.5634+8T>A
 dbSNP gnomAD v4
1g.102879676T>CCA973275COL11A1c.5274+7A>G (n.5274+7A>G)
n.647+7A>G
c.5157+7A>G (n.5157+7A>G)
c.5310+7A>G (n.5310+7A>G)
n.336+7A>G
c.4926+7A>G (n.4926+7A>G)
c.4608+7A>G
c.3507+7A>G (n.3507+7A>G)
c.2862+7A>G (n.2862+7A>G)
n.5608+7A>G
c.5427+7A>G (n.5427+7A>G)
c.5421+7A>G (n.5421+7A>G)
c.3825+7A>G (n.3825+7A>G)
n.5634+7A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879676T=CA1185227996COL11A1c.5274+7A= (n.5274+7A=)
n.647+7A=
c.5157+7A= (n.5157+7A=)
c.5310+7A= (n.5310+7A=)
n.336+7A=
c.4926+7A= (n.4926+7A=)
c.4608+7A=
c.3507+7A= (n.3507+7A=)
c.2862+7A= (n.2862+7A=)
n.5608+7A=
c.5427+7A= (n.5427+7A=)
c.5421+7A= (n.5421+7A=)
c.3825+7A= (n.3825+7A=)
n.5634+7A=
1g.102879678C>TCA2740167519COL11A1c.5274+5G>A (n.5274+5G>A)
n.647+5G>A
c.5157+5G>A (n.5157+5G>A)
c.5310+5G>A (n.5310+5G>A)
n.336+5G>A
c.4926+5G>A (n.4926+5G>A)
c.4608+5G>A
c.3507+5G>A (n.3507+5G>A)
c.2862+5G>A (n.2862+5G>A)
n.5608+5G>A
c.5427+5G>A (n.5427+5G>A)
c.5421+5G>A (n.5421+5G>A)
c.3825+5G>A (n.3825+5G>A)
n.5634+5G>A
1g.102879679T>CCA524989858COL11A1c.5274+4A>G (n.5274+4A>G)
n.647+4A>G
c.5157+4A>G (n.5157+4A>G)
c.5310+4A>G (n.5310+4A>G)
n.336+4A>G
c.4926+4A>G (n.4926+4A>G)
c.4608+4A>G
c.3507+4A>G (n.3507+4A>G)
c.2862+4A>G (n.2862+4A>G)
n.5608+4A>G
c.5427+4A>G (n.5427+4A>G)
c.5421+4A>G (n.5421+4A>G)
c.3825+4A>G (n.3825+4A>G)
n.5634+4A>G
 dbSNP gnomAD v2 gnomAD v4
1g.102879679T>GCA973276COL11A1c.5274+4A>C (n.5274+4A>C)
n.647+4A>C
c.5157+4A>C (n.5157+4A>C)
c.5310+4A>C (n.5310+4A>C)
n.336+4A>C
c.4926+4A>C (n.4926+4A>C)
c.4608+4A>C
c.3507+4A>C (n.3507+4A>C)
c.2862+4A>C (n.2862+4A>C)
n.5608+4A>C
c.5427+4A>C (n.5427+4A>C)
c.5421+4A>C (n.5421+4A>C)
c.3825+4A>C (n.3825+4A>C)
n.5634+4A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879679T=CA1185227997COL11A1c.5274+4A= (n.5274+4A=)
n.647+4A=
c.5157+4A= (n.5157+4A=)
c.5310+4A= (n.5310+4A=)
n.336+4A=
c.4926+4A= (n.4926+4A=)
c.4608+4A=
c.3507+4A= (n.3507+4A=)
c.2862+4A= (n.2862+4A=)
n.5608+4A=
c.5427+4A= (n.5427+4A=)
c.5421+4A= (n.5421+4A=)
c.3825+4A= (n.3825+4A=)
n.5634+4A=
1g.102879680C=CA1185227998COL11A1c.5274+3G= (n.5274+3G=)
n.647+3G=
c.5157+3G= (n.5157+3G=)
c.5310+3G= (n.5310+3G=)
n.336+3G=
c.4926+3G= (n.4926+3G=)
c.4608+3G=
c.3507+3G= (n.3507+3G=)
c.2862+3G= (n.2862+3G=)
n.5608+3G=
c.5427+3G= (n.5427+3G=)
c.5421+3G= (n.5421+3G=)
c.3825+3G= (n.3825+3G=)
n.5634+3G=
1g.102879680C>TCA973277COL11A1c.5274+3G>A (n.5274+3G>A)
n.647+3G>A
c.5157+3G>A (n.5157+3G>A)
c.5310+3G>A (n.5310+3G>A)
n.336+3G>A
c.4926+3G>A (n.4926+3G>A)
c.4608+3G>A
c.3507+3G>A (n.3507+3G>A)
c.2862+3G>A (n.2862+3G>A)
n.5608+3G>A
c.5427+3G>A (n.5427+3G>A)
c.5421+3G>A (n.5421+3G>A)
c.3825+3G>A (n.3825+3G>A)
n.5634+3G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879681A>CCA341210718COL11A1c.5274+2T>G (n.5274+2T>G)
n.647+2T>G
c.5157+2T>G (n.5157+2T>G)
c.5310+2T>G (n.5310+2T>G)
n.336+2T>G
c.4926+2T>G (n.4926+2T>G)
c.4608+2T>G
c.3507+2T>G (n.3507+2T>G)
c.2862+2T>G (n.2862+2T>G)
n.5608+2T>G
c.5427+2T>G (n.5427+2T>G)
c.5421+2T>G (n.5421+2T>G)
c.3825+2T>G (n.3825+2T>G)
n.5634+2T>G
1g.102879681A>GCA341210719COL11A1c.5274+2T>C (n.5274+2T>C)
n.647+2T>C
c.5157+2T>C (n.5157+2T>C)
c.5310+2T>C (n.5310+2T>C)
n.336+2T>C
c.4926+2T>C (n.4926+2T>C)
c.4608+2T>C
c.3507+2T>C (n.3507+2T>C)
c.2862+2T>C (n.2862+2T>C)
n.5608+2T>C
c.5427+2T>C (n.5427+2T>C)
c.5421+2T>C (n.5421+2T>C)
c.3825+2T>C (n.3825+2T>C)
n.5634+2T>C
1g.102879681A>TCA341210720COL11A1c.5274+2T>A (n.5274+2T>A)
n.647+2T>A
c.5157+2T>A (n.5157+2T>A)
c.5310+2T>A (n.5310+2T>A)
n.336+2T>A
c.4926+2T>A (n.4926+2T>A)
c.4608+2T>A
c.3507+2T>A (n.3507+2T>A)
c.2862+2T>A (n.2862+2T>A)
n.5608+2T>A
c.5427+2T>A (n.5427+2T>A)
c.5421+2T>A (n.5421+2T>A)
c.3825+2T>A (n.3825+2T>A)
n.5634+2T>A
1g.102879682C>ACA341210721COL11A1c.5274+1G>T (n.5274+1G>T)
n.647+1G>T
c.5157+1G>T (n.5157+1G>T)
c.5310+1G>T (n.5310+1G>T)
n.336+1G>T
c.4926+1G>T (n.4926+1G>T)
c.4608+1G>T
c.3507+1G>T (n.3507+1G>T)
c.2862+1G>T (n.2862+1G>T)
n.5608+1G>T
c.5427+1G>T (n.5427+1G>T)
c.5421+1G>T (n.5421+1G>T)
c.3825+1G>T (n.3825+1G>T)
n.5634+1G>T
1g.102879682C>GCA341210723COL11A1c.5274+1G>C (n.5274+1G>C)
n.647+1G>C
c.5157+1G>C (n.5157+1G>C)
c.5310+1G>C (n.5310+1G>C)
n.336+1G>C
c.4926+1G>C (n.4926+1G>C)
c.4608+1G>C
c.3507+1G>C (n.3507+1G>C)
c.2862+1G>C (n.2862+1G>C)
n.5608+1G>C
c.5427+1G>C (n.5427+1G>C)
c.5421+1G>C (n.5421+1G>C)
c.3825+1G>C (n.3825+1G>C)
n.5634+1G>C
1g.102879682C>TCA341210722COL11A1c.5274+1G>A (n.5274+1G>A)
n.647+1G>A
c.5157+1G>A (n.5157+1G>A)
c.5310+1G>A (n.5310+1G>A)
n.336+1G>A
c.4926+1G>A (n.4926+1G>A)
c.4608+1G>A
c.3507+1G>A (n.3507+1G>A)
c.2862+1G>A (n.2862+1G>A)
n.5608+1G>A
c.5427+1G>A (n.5427+1G>A)
c.5421+1G>A (n.5421+1G>A)
c.3825+1G>A (n.3825+1G>A)
n.5634+1G>A
 COSMIC
1g.102879683C>ACA419253349COL11A1c.5274G>T (p.Ala1758=)
n.647G>T
c.5157G>T (p.Ala1719=)
c.5310G>T (p.Ala1770=)
n.336G>T
c.4926G>T (p.Ala1642=)
c.4608G>T
c.3507G>T (p.Ala1169=)
c.2862G>T (p.Ala954=)
n.5608G>T
c.5427G>T (p.Ala1809=)
c.5421G>T (p.Ala1807=)
c.3825G>T (p.Ala1275=)
n.5634G>T
 dbSNP
1g.102879683C=CA1185227999COL11A1c.5274G= (p.Ala1758=)
n.647G=
c.5157G= (p.Ala1719=)
c.5310G= (p.Ala1770=)
n.336G=
c.4926G= (p.Ala1642=)
c.4608G=
c.3507G= (p.Ala1169=)
c.2862G= (p.Ala954=)
n.5608G=
c.5427G= (p.Ala1809=)
c.5421G= (p.Ala1807=)
c.3825G= (p.Ala1275=)
n.5634G=
1g.102879683C>GCA419253348COL11A1c.5274G>C (p.Ala1758=)
n.647G>C
c.5157G>C (p.Ala1719=)
c.5310G>C (p.Ala1770=)
n.336G>C
c.4926G>C (p.Ala1642=)
c.4608G>C
c.3507G>C (p.Ala1169=)
c.2862G>C (p.Ala954=)
n.5608G>C
c.5427G>C (p.Ala1809=)
c.5421G>C (p.Ala1807=)
c.3825G>C (p.Ala1275=)
n.5634G>C
1g.102879683C>TCA973278COL11A1c.5274G>A (p.Ala1758=)
n.647G>A
c.5157G>A (p.Ala1719=)
c.5310G>A (p.Ala1770=)
n.336G>A
c.4926G>A (p.Ala1642=)
c.4608G>A
c.3507G>A (p.Ala1169=)
c.2862G>A (p.Ala954=)
n.5608G>A
c.5427G>A (p.Ala1809=)
c.5421G>A (p.Ala1807=)
c.3825G>A (p.Ala1275=)
n.5634G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.102879684G>ACA973279COL11A1c.5273C>T (p.Ala1758Val)
n.646C>T
c.5156C>T (p.Ala1719Val)
c.5309C>T (p.Ala1770Val)
n.335C>T
c.4925C>T (p.Ala1642Val)
c.4607C>T
c.3506C>T (p.Ala1169Val)
c.2861C>T (p.Ala954Val)
n.5607C>T
c.5426C>T (p.Ala1809Val)
c.5420C>T (p.Ala1807Val)
c.3824C>T (p.Ala1275Val)
n.5633C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.102879684G>CCA341210724COL11A1c.5273C>G (p.Ala1758Gly)
n.646C>G
c.5156C>G (p.Ala1719Gly)
c.5309C>G (p.Ala1770Gly)
n.335C>G
c.4925C>G (p.Ala1642Gly)
c.4607C>G
c.3506C>G (p.Ala1169Gly)
c.2861C>G (p.Ala954Gly)
n.5607C>G
c.5426C>G (p.Ala1809Gly)
c.5420C>G (p.Ala1807Gly)
c.3824C>G (p.Ala1275Gly)
n.5633C>G
1g.102879684G=CA1143523794COL11A1c.5273C= (p.Ala1758=)
n.646C=
c.5156C= (p.Ala1719=)
c.5309C= (p.Ala1770=)
n.335C=
c.4925C= (p.Ala1642=)
c.4607C=
c.3506C= (p.Ala1169=)
c.2861C= (p.Ala954=)
n.5607C=
c.5426C= (p.Ala1809=)
c.5420C= (p.Ala1807=)
c.3824C= (p.Ala1275=)
n.5633C=
1g.102879684G>TCA973280COL11A1c.5273C>A (p.Ala1758Glu)
n.646C>A
c.5156C>A (p.Ala1719Glu)
c.5309C>A (p.Ala1770Glu)
n.335C>A
c.4925C>A (p.Ala1642Glu)
c.4607C>A
c.3506C>A (p.Ala1169Glu)
c.2861C>A (p.Ala954Glu)
n.5607C>A
c.5426C>A (p.Ala1809Glu)
c.5420C>A (p.Ala1807Glu)
c.3824C>A (p.Ala1275Glu)
n.5633C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.102879685C>ACA341210725COL11A1c.5272G>T (p.Ala1758Ser)
n.645G>T
c.5155G>T (p.Ala1719Ser)
c.5308G>T (p.Ala1770Ser)
n.334G>T
c.4924G>T (p.Ala1642Ser)
c.4606G>T
c.3505G>T (p.Ala1169Ser)
c.2860G>T (p.Ala954Ser)
n.5606G>T
c.5425G>T (p.Ala1809Ser)
c.5419G>T (p.Ala1807Ser)
c.3823G>T (p.Ala1275Ser)
n.5632G>T
 dbSNP gnomAD v4
1g.102879685C=CA1185228000COL11A1c.5272G= (p.Ala1758=)
n.645G=
c.5155G= (p.Ala1719=)
c.5308G= (p.Ala1770=)
n.334G=
c.4924G= (p.Ala1642=)
c.4606G=
c.3505G= (p.Ala1169=)
c.2860G= (p.Ala954=)
n.5606G=
c.5425G= (p.Ala1809=)
c.5419G= (p.Ala1807=)
c.3823G= (p.Ala1275=)
n.5632G=
1g.102879685C>GCA341210726COL11A1c.5272G>C (p.Ala1758Pro)
n.645G>C
c.5155G>C (p.Ala1719Pro)
c.5308G>C (p.Ala1770Pro)
n.334G>C
c.4924G>C (p.Ala1642Pro)
c.4606G>C
c.3505G>C (p.Ala1169Pro)
c.2860G>C (p.Ala954Pro)
n.5606G>C
c.5425G>C (p.Ala1809Pro)
c.5419G>C (p.Ala1807Pro)
c.3823G>C (p.Ala1275Pro)
n.5632G>C
1g.102879685C>TCA341210727COL11A1c.5272G>A (p.Ala1758Thr)
n.645G>A
c.5155G>A (p.Ala1719Thr)
c.5308G>A (p.Ala1770Thr)
n.334G>A
c.4924G>A (p.Ala1642Thr)
c.4606G>A
c.3505G>A (p.Ala1169Thr)
c.2860G>A (p.Ala954Thr)
n.5606G>A
c.5425G>A (p.Ala1809Thr)
c.5419G>A (p.Ala1807Thr)
c.3823G>A (p.Ala1275Thr)
n.5632G>A
 dbSNP gnomAD v4
1g.102879686A>CCA341210728COL11A1c.5271T>G (p.Cys1757Trp)
n.644T>G
c.5154T>G (p.Cys1718Trp)
c.5307T>G (p.Cys1769Trp)
n.333T>G
c.4923T>G (p.Cys1641Trp)
c.4605T>G
c.3504T>G (p.Cys1168Trp)
c.2859T>G (p.Cys953Trp)
n.5605T>G
c.5424T>G (p.Cys1808Trp)
c.5418T>G (p.Cys1806Trp)
c.3822T>G (p.Cys1274Trp)
n.5631T>G
1g.102879686A>GCA419253350COL11A1c.5271T>C (p.Cys1757=)
n.644T>C
c.5154T>C (p.Cys1718=)
c.5307T>C (p.Cys1769=)
n.333T>C
c.4923T>C (p.Cys1641=)
c.4605T>C
c.3504T>C (p.Cys1168=)
c.2859T>C (p.Cys953=)
n.5605T>C
c.5424T>C (p.Cys1808=)
c.5418T>C (p.Cys1806=)
c.3822T>C (p.Cys1274=)
n.5631T>C
1g.102879686A>TCA341210729COL11A1c.5271T>A (p.Cys1757Ter)
n.644T>A
c.5154T>A (p.Cys1718Ter)
c.5307T>A (p.Cys1769Ter)
n.333T>A
c.4923T>A (p.Cys1641Ter)
c.4605T>A
c.3504T>A (p.Cys1168Ter)
c.2859T>A (p.Cys953Ter)
n.5605T>A
c.5424T>A (p.Cys1808Ter)
c.5418T>A (p.Cys1806Ter)
c.3822T>A (p.Cys1274Ter)
n.5631T>A
1g.102879687C>ACA341210730COL11A1c.5270G>T (p.Cys1757Phe)
n.643G>T
c.5153G>T (p.Cys1718Phe)
c.5306G>T (p.Cys1769Phe)
n.332G>T
c.4922G>T (p.Cys1641Phe)
c.4604G>T
c.3503G>T (p.Cys1168Phe)
c.2858G>T (p.Cys953Phe)
n.5604G>T
c.5423G>T (p.Cys1808Phe)
c.5417G>T (p.Cys1806Phe)
c.3821G>T (p.Cys1274Phe)
n.5630G>T
1g.102879687C>GCA341210731COL11A1c.5270G>C (p.Cys1757Ser)
n.643G>C
c.5153G>C (p.Cys1718Ser)
c.5306G>C (p.Cys1769Ser)
n.332G>C
c.4922G>C (p.Cys1641Ser)
c.4604G>C
c.3503G>C (p.Cys1168Ser)
c.2858G>C (p.Cys953Ser)
n.5604G>C
c.5423G>C (p.Cys1808Ser)
c.5417G>C (p.Cys1806Ser)
c.3821G>C (p.Cys1274Ser)
n.5630G>C
1g.102879687C>TCA341210732COL11A1c.5270G>A (p.Cys1757Tyr)
n.643G>A
c.5153G>A (p.Cys1718Tyr)
c.5306G>A (p.Cys1769Tyr)
n.332G>A
c.4922G>A (p.Cys1641Tyr)
c.4604G>A
c.3503G>A (p.Cys1168Tyr)
c.2858G>A (p.Cys953Tyr)
n.5604G>A
c.5423G>A (p.Cys1808Tyr)
c.5417G>A (p.Cys1806Tyr)
c.3821G>A (p.Cys1274Tyr)
n.5630G>A
1g.102879688A>CCA341210735COL11A1c.5269T>G (p.Cys1757Gly)
n.642T>G
c.5152T>G (p.Cys1718Gly)
c.5305T>G (p.Cys1769Gly)
n.331T>G
c.4921T>G (p.Cys1641Gly)
c.4603T>G
c.3502T>G (p.Cys1168Gly)
c.2857T>G (p.Cys953Gly)
n.5603T>G
c.5422T>G (p.Cys1808Gly)
c.5416T>G (p.Cys1806Gly)
c.3820T>G (p.Cys1274Gly)
n.5629T>G
1g.102879688A>GCA341210733COL11A1c.5269T>C (p.Cys1757Arg)
n.642T>C
c.5152T>C (p.Cys1718Arg)
c.5305T>C (p.Cys1769Arg)
n.331T>C
c.4921T>C (p.Cys1641Arg)
c.4603T>C
c.3502T>C (p.Cys1168Arg)
c.2857T>C (p.Cys953Arg)
n.5603T>C
c.5422T>C (p.Cys1808Arg)
c.5416T>C (p.Cys1806Arg)
c.3820T>C (p.Cys1274Arg)
n.5629T>C
1g.102879688A>TCA341210734COL11A1c.5269T>A (p.Cys1757Ser)
n.642T>A
c.5152T>A (p.Cys1718Ser)
c.5305T>A (p.Cys1769Ser)
n.331T>A
c.4921T>A (p.Cys1641Ser)
c.4603T>A
c.3502T>A (p.Cys1168Ser)
c.2857T>A (p.Cys953Ser)
n.5603T>A
c.5422T>A (p.Cys1808Ser)
c.5416T>A (p.Cys1806Ser)
c.3820T>A (p.Cys1274Ser)
n.5629T>A
1g.102879689A>CCA419253351COL11A1c.5268T>G (p.Gly1756=)
n.641T>G
c.5151T>G (p.Gly1717=)
c.5304T>G (p.Gly1768=)
n.330T>G
c.4920T>G (p.Gly1640=)
c.4602T>G
c.3501T>G (p.Gly1167=)
c.2856T>G (p.Gly952=)
n.5602T>G
c.5421T>G (p.Gly1807=)
c.5415T>G (p.Gly1805=)
c.3819T>G (p.Gly1273=)
n.5628T>G
1g.102879689A>GCA419253353COL11A1c.5268T>C (p.Gly1756=)
n.641T>C
c.5151T>C (p.Gly1717=)
c.5304T>C (p.Gly1768=)
n.330T>C
c.4920T>C (p.Gly1640=)
c.4602T>C
c.3501T>C (p.Gly1167=)
c.2856T>C (p.Gly952=)
n.5602T>C
c.5421T>C (p.Gly1807=)
c.5415T>C (p.Gly1805=)
c.3819T>C (p.Gly1273=)
n.5628T>C
 dbSNP
1g.102879689A>TCA419253352COL11A1c.5268T>A (p.Gly1756=)
n.641T>A
c.5151T>A (p.Gly1717=)
c.5304T>A (p.Gly1768=)
n.330T>A
c.4920T>A (p.Gly1640=)
c.4602T>A
c.3501T>A (p.Gly1167=)
c.2856T>A (p.Gly952=)
n.5602T>A
c.5421T>A (p.Gly1807=)
c.5415T>A (p.Gly1805=)
c.3819T>A (p.Gly1273=)
n.5628T>A
1g.102879690C>ACA341210736COL11A1c.5267G>T (p.Gly1756Val)
n.640G>T
c.5150G>T (p.Gly1717Val)
c.5303G>T (p.Gly1768Val)
n.329G>T
c.4919G>T (p.Gly1640Val)
c.4601G>T
c.3500G>T (p.Gly1167Val)
c.2855G>T (p.Gly952Val)
n.5601G>T
c.5420G>T (p.Gly1807Val)
c.5414G>T (p.Gly1805Val)
c.3818G>T (p.Gly1273Val)
n.5627G>T
1g.102879690C>GCA341210737COL11A1c.5267G>C (p.Gly1756Ala)
n.640G>C
c.5150G>C (p.Gly1717Ala)
c.5303G>C (p.Gly1768Ala)
n.329G>C
c.4919G>C (p.Gly1640Ala)
c.4601G>C
c.3500G>C (p.Gly1167Ala)
c.2855G>C (p.Gly952Ala)
n.5601G>C
c.5420G>C (p.Gly1807Ala)
c.5414G>C (p.Gly1805Ala)
c.3818G>C (p.Gly1273Ala)
n.5627G>C
1g.102879690C>TCA341210738COL11A1c.5267G>A (p.Gly1756Asp)
n.640G>A
c.5150G>A (p.Gly1717Asp)
c.5303G>A (p.Gly1768Asp)
n.329G>A
c.4919G>A (p.Gly1640Asp)
c.4601G>A
c.3500G>A (p.Gly1167Asp)
c.2855G>A (p.Gly952Asp)
n.5601G>A
c.5420G>A (p.Gly1807Asp)
c.5414G>A (p.Gly1805Asp)
c.3818G>A (p.Gly1273Asp)
n.5627G>A
1g.102879691C>ACA341210739COL11A1c.5266G>T (p.Gly1756Cys)
n.639G>T
c.5149G>T (p.Gly1717Cys)
c.5302G>T (p.Gly1768Cys)
n.328G>T
c.4918G>T (p.Gly1640Cys)
c.4600G>T
c.3499G>T (p.Gly1167Cys)
c.2854G>T (p.Gly952Cys)
n.5600G>T
c.5419G>T (p.Gly1807Cys)
c.5413G>T (p.Gly1805Cys)
c.3817G>T (p.Gly1273Cys)
n.5626G>T
1g.102879691C>GCA341210740COL11A1c.5266G>C (p.Gly1756Arg)
n.639G>C
c.5149G>C (p.Gly1717Arg)
c.5302G>C (p.Gly1768Arg)
n.328G>C
c.4918G>C (p.Gly1640Arg)
c.4600G>C
c.3499G>C (p.Gly1167Arg)
c.2854G>C (p.Gly952Arg)
n.5600G>C
c.5419G>C (p.Gly1807Arg)
c.5413G>C (p.Gly1805Arg)
c.3817G>C (p.Gly1273Arg)
n.5626G>C
1g.102879691C>TCA341210741COL11A1c.5266G>A (p.Gly1756Ser)
n.639G>A
c.5149G>A (p.Gly1717Ser)
c.5302G>A (p.Gly1768Ser)
n.328G>A
c.4918G>A (p.Gly1640Ser)
c.4600G>A
c.3499G>A (p.Gly1167Ser)
c.2854G>A (p.Gly952Ser)
n.5600G>A
c.5419G>A (p.Gly1807Ser)
c.5413G>A (p.Gly1805Ser)
c.3817G>A (p.Gly1273Ser)
n.5626G>A
1g.102879692A>CCA341210742COL11A1c.5265T>G (p.Asp1755Glu)
n.638T>G
c.5148T>G (p.Asp1716Glu)
c.5301T>G (p.Asp1767Glu)
n.327T>G
c.4917T>G (p.Asp1639Glu)
c.4599T>G
c.3498T>G (p.Asp1166Glu)
c.2853T>G (p.Asp951Glu)
n.5599T>G
c.5418T>G (p.Asp1806Glu)
c.5412T>G (p.Asp1804Glu)
c.3816T>G (p.Asp1272Glu)
n.5625T>G
1g.102879692A>GCA419253354COL11A1c.5265T>C (p.Asp1755=)
n.638T>C
c.5148T>C (p.Asp1716=)
c.5301T>C (p.Asp1767=)
n.327T>C
c.4917T>C (p.Asp1639=)
c.4599T>C
c.3498T>C (p.Asp1166=)
c.2853T>C (p.Asp951=)
n.5599T>C
c.5418T>C (p.Asp1806=)
c.5412T>C (p.Asp1804=)
c.3816T>C (p.Asp1272=)
n.5625T>C
1g.102879692A>TCA341210743COL11A1c.5265T>A (p.Asp1755Glu)
n.638T>A
c.5148T>A (p.Asp1716Glu)
c.5301T>A (p.Asp1767Glu)
n.327T>A
c.4917T>A (p.Asp1639Glu)
c.4599T>A
c.3498T>A (p.Asp1166Glu)
c.2853T>A (p.Asp951Glu)
n.5599T>A
c.5418T>A (p.Asp1806Glu)
c.5412T>A (p.Asp1804Glu)
c.3816T>A (p.Asp1272Glu)
n.5625T>A
 gnomAD v4
1g.102879693T>ACA341210744COL11A1c.5264A>T (p.Asp1755Val)
n.637A>T
c.5147A>T (p.Asp1716Val)
c.5300A>T (p.Asp1767Val)
n.326A>T
c.4916A>T (p.Asp1639Val)
c.4598A>T
c.3497A>T (p.Asp1166Val)
c.2852A>T (p.Asp951Val)
n.5598A>T
c.5417A>T (p.Asp1806Val)
c.5411A>T (p.Asp1804Val)
c.3815A>T (p.Asp1272Val)
n.5624A>T
1g.102879693T>CCA341210745COL11A1c.5264A>G (p.Asp1755Gly)
n.637A>G
c.5147A>G (p.Asp1716Gly)
c.5300A>G (p.Asp1767Gly)
n.326A>G
c.4916A>G (p.Asp1639Gly)
c.4598A>G
c.3497A>G (p.Asp1166Gly)
c.2852A>G (p.Asp951Gly)
n.5598A>G
c.5417A>G (p.Asp1806Gly)
c.5411A>G (p.Asp1804Gly)
c.3815A>G (p.Asp1272Gly)
n.5624A>G
 dbSNP
1g.102879693T>GCA341210746COL11A1c.5264A>C (p.Asp1755Ala)
n.637A>C
c.5147A>C (p.Asp1716Ala)
c.5300A>C (p.Asp1767Ala)
n.326A>C
c.4916A>C (p.Asp1639Ala)
c.4598A>C
c.3497A>C (p.Asp1166Ala)
c.2852A>C (p.Asp951Ala)
n.5598A>C
c.5417A>C (p.Asp1806Ala)
c.5411A>C (p.Asp1804Ala)
c.3815A>C (p.Asp1272Ala)
n.5624A>C
1g.102879693T=CA1185228001COL11A1c.5264A= (p.Asp1755=)
n.637A=
c.5147A= (p.Asp1716=)
c.5300A= (p.Asp1767=)
n.326A=
c.4916A= (p.Asp1639=)
c.4598A=
c.3497A= (p.Asp1166=)
c.2852A= (p.Asp951=)
n.5598A=
c.5417A= (p.Asp1806=)
c.5411A= (p.Asp1804=)
c.3815A= (p.Asp1272=)
n.5624A=
1g.102879694C>ACA341210749COL11A1c.5263G>T (p.Asp1755Tyr)
n.636G>T
c.5146G>T (p.Asp1716Tyr)
c.5299G>T (p.Asp1767Tyr)
n.325G>T
c.4915G>T (p.Asp1639Tyr)
c.4597G>T
c.3496G>T (p.Asp1166Tyr)
c.2851G>T (p.Asp951Tyr)
n.5597G>T
c.5416G>T (p.Asp1806Tyr)
c.5410G>T (p.Asp1804Tyr)
c.3814G>T (p.Asp1272Tyr)
n.5623G>T
1g.102879694C>GCA341210748COL11A1c.5263G>C (p.Asp1755His)
n.636G>C
c.5146G>C (p.Asp1716His)
c.5299G>C (p.Asp1767His)
n.325G>C
c.4915G>C (p.Asp1639His)
c.4597G>C
c.3496G>C (p.Asp1166His)
c.2851G>C (p.Asp951His)
n.5597G>C
c.5416G>C (p.Asp1806His)
c.5410G>C (p.Asp1804His)
c.3814G>C (p.Asp1272His)
n.5623G>C
1g.102879694C>TCA341210747COL11A1c.5263G>A (p.Asp1755Asn)
n.636G>A
c.5146G>A (p.Asp1716Asn)
c.5299G>A (p.Asp1767Asn)
n.325G>A
c.4915G>A (p.Asp1639Asn)
c.4597G>A
c.3496G>A (p.Asp1166Asn)
c.2851G>A (p.Asp951Asn)
n.5597G>A
c.5416G>A (p.Asp1806Asn)
c.5410G>A (p.Asp1804Asn)
c.3814G>A (p.Asp1272Asn)
n.5623G>A
 dbSNP
1g.102879695A>CCA341210750COL11A1c.5262T>G (p.Tyr1754Ter)
n.635T>G
c.5145T>G (p.Tyr1715Ter)
c.5298T>G (p.Tyr1766Ter)
n.324T>G
c.4914T>G (p.Tyr1638Ter)
c.4596T>G
c.3495T>G (p.Tyr1165Ter)
c.2850T>G (p.Tyr950Ter)
n.5596T>G
c.5415T>G (p.Tyr1805Ter)
c.5409T>G (p.Tyr1803Ter)
c.3813T>G (p.Tyr1271Ter)
n.5622T>G
1g.102879695A>GCA419253355COL11A1c.5262T>C (p.Tyr1754=)
n.635T>C
c.5145T>C (p.Tyr1715=)
c.5298T>C (p.Tyr1766=)
n.324T>C
c.4914T>C (p.Tyr1638=)
c.4596T>C
c.3495T>C (p.Tyr1165=)
c.2850T>C (p.Tyr950=)
n.5596T>C
c.5415T>C (p.Tyr1805=)
c.5409T>C (p.Tyr1803=)
c.3813T>C (p.Tyr1271=)
n.5622T>C
 gnomAD v4
1g.102879695A>TCA341210751COL11A1c.5262T>A (p.Tyr1754Ter)
n.635T>A
c.5145T>A (p.Tyr1715Ter)
c.5298T>A (p.Tyr1766Ter)
n.324T>A
c.4914T>A (p.Tyr1638Ter)
c.4596T>A
c.3495T>A (p.Tyr1165Ter)
c.2850T>A (p.Tyr950Ter)
n.5596T>A
c.5415T>A (p.Tyr1805Ter)
c.5409T>A (p.Tyr1803Ter)
c.3813T>A (p.Tyr1271Ter)
n.5622T>A
1g.102879696T>ACA341210752COL11A1c.5261A>T (p.Tyr1754Phe)
n.634A>T
c.5144A>T (p.Tyr1715Phe)
c.5297A>T (p.Tyr1766Phe)
n.323A>T
c.4913A>T (p.Tyr1638Phe)
c.4595A>T
c.3494A>T (p.Tyr1165Phe)
c.2849A>T (p.Tyr950Phe)
n.5595A>T
c.5414A>T (p.Tyr1805Phe)
c.5408A>T (p.Tyr1803Phe)
c.3812A>T (p.Tyr1271Phe)
n.5621A>T
1g.102879696T>CCA973281COL11A1c.5261A>G (p.Tyr1754Cys)
n.634A>G
c.5144A>G (p.Tyr1715Cys)
c.5297A>G (p.Tyr1766Cys)
n.323A>G
c.4913A>G (p.Tyr1638Cys)
c.4595A>G
c.3494A>G (p.Tyr1165Cys)
c.2849A>G (p.Tyr950Cys)
n.5595A>G
c.5414A>G (p.Tyr1805Cys)
c.5408A>G (p.Tyr1803Cys)
c.3812A>G (p.Tyr1271Cys)
n.5621A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879696T>GCA341210753COL11A1c.5261A>C (p.Tyr1754Ser)
n.634A>C
c.5144A>C (p.Tyr1715Ser)
c.5297A>C (p.Tyr1766Ser)
n.323A>C
c.4913A>C (p.Tyr1638Ser)
c.4595A>C
c.3494A>C (p.Tyr1165Ser)
c.2849A>C (p.Tyr950Ser)
n.5595A>C
c.5414A>C (p.Tyr1805Ser)
c.5408A>C (p.Tyr1803Ser)
c.3812A>C (p.Tyr1271Ser)
n.5621A>C
1g.102879696T=CA1185228002COL11A1c.5261A= (p.Tyr1754=)
n.634A=
c.5144A= (p.Tyr1715=)
c.5297A= (p.Tyr1766=)
n.323A=
c.4913A= (p.Tyr1638=)
c.4595A=
c.3494A= (p.Tyr1165=)
c.2849A= (p.Tyr950=)
n.5595A=
c.5414A= (p.Tyr1805=)
c.5408A= (p.Tyr1803=)
c.3812A= (p.Tyr1271=)
n.5621A=
1g.102879697A>CCA341210754COL11A1c.5260T>G (p.Tyr1754Asp)
n.633T>G
c.5143T>G (p.Tyr1715Asp)
c.5296T>G (p.Tyr1766Asp)
n.322T>G
c.4912T>G (p.Tyr1638Asp)
c.4594T>G
c.3493T>G (p.Tyr1165Asp)
c.2848T>G (p.Tyr950Asp)
n.5594T>G
c.5413T>G (p.Tyr1805Asp)
c.5407T>G (p.Tyr1803Asp)
c.3811T>G (p.Tyr1271Asp)
n.5620T>G
1g.102879697A>GCA341210755COL11A1c.5260T>C (p.Tyr1754His)
n.633T>C
c.5143T>C (p.Tyr1715His)
c.5296T>C (p.Tyr1766His)
n.322T>C
c.4912T>C (p.Tyr1638His)
c.4594T>C
c.3493T>C (p.Tyr1165His)
c.2848T>C (p.Tyr950His)
n.5594T>C
c.5413T>C (p.Tyr1805His)
c.5407T>C (p.Tyr1803His)
c.3811T>C (p.Tyr1271His)
n.5620T>C
 COSMIC COSMIC
1g.102879697A>TCA341210756COL11A1c.5260T>A (p.Tyr1754Asn)
n.633T>A
c.5143T>A (p.Tyr1715Asn)
c.5296T>A (p.Tyr1766Asn)
n.322T>A
c.4912T>A (p.Tyr1638Asn)
c.4594T>A
c.3493T>A (p.Tyr1165Asn)
c.2848T>A (p.Tyr950Asn)
n.5594T>A
c.5413T>A (p.Tyr1805Asn)
c.5407T>A (p.Tyr1803Asn)
c.3811T>A (p.Tyr1271Asn)
n.5620T>A
1g.102879698C>ACA419253356COL11A1c.5259G>T (p.Leu1753=)
n.632G>T
c.5142G>T (p.Leu1714=)
c.5295G>T (p.Leu1765=)
n.321G>T
c.4911G>T (p.Leu1637=)
c.4593G>T
c.3492G>T (p.Leu1164=)
c.2847G>T (p.Leu949=)
n.5593G>T
c.5412G>T (p.Leu1804=)
c.5406G>T (p.Leu1802=)
c.3810G>T (p.Leu1270=)
n.5619G>T
1g.102879698C>GCA419253357COL11A1c.5259G>C (p.Leu1753=)
n.632G>C
c.5142G>C (p.Leu1714=)
c.5295G>C (p.Leu1765=)
n.321G>C
c.4911G>C (p.Leu1637=)
c.4593G>C
c.3492G>C (p.Leu1164=)
c.2847G>C (p.Leu949=)
n.5593G>C
c.5412G>C (p.Leu1804=)
c.5406G>C (p.Leu1802=)
c.3810G>C (p.Leu1270=)
n.5619G>C
1g.102879698C>TCA419253358COL11A1c.5259G>A (p.Leu1753=)
n.632G>A
c.5142G>A (p.Leu1714=)
c.5295G>A (p.Leu1765=)
n.321G>A
c.4911G>A (p.Leu1637=)
c.4593G>A
c.3492G>A (p.Leu1164=)
c.2847G>A (p.Leu949=)
n.5593G>A
c.5412G>A (p.Leu1804=)
c.5406G>A (p.Leu1802=)
c.3810G>A (p.Leu1270=)
n.5619G>A
 gnomAD v4
1g.102879699A=CA1185228003COL11A1c.5258T= (p.Leu1753=)
n.631T=
c.5141T= (p.Leu1714=)
c.5294T= (p.Leu1765=)
n.320T=
c.4910T= (p.Leu1637=)
c.4592T=
c.3491T= (p.Leu1164=)
c.2846T= (p.Leu949=)
n.5592T=
c.5411T= (p.Leu1804=)
c.5405T= (p.Leu1802=)
c.3809T= (p.Leu1270=)
n.5618T=
1g.102879699A>CCA341210757COL11A1c.5258T>G (p.Leu1753Arg)
n.631T>G
c.5141T>G (p.Leu1714Arg)
c.5294T>G (p.Leu1765Arg)
n.320T>G
c.4910T>G (p.Leu1637Arg)
c.4592T>G
c.3491T>G (p.Leu1164Arg)
c.2846T>G (p.Leu949Arg)
n.5592T>G
c.5411T>G (p.Leu1804Arg)
c.5405T>G (p.Leu1802Arg)
c.3809T>G (p.Leu1270Arg)
n.5618T>G
1g.102879699A>GCA341210758COL11A1c.5258T>C (p.Leu1753Pro)
n.631T>C
c.5141T>C (p.Leu1714Pro)
c.5294T>C (p.Leu1765Pro)
n.320T>C
c.4910T>C (p.Leu1637Pro)
c.4592T>C
c.3491T>C (p.Leu1164Pro)
c.2846T>C (p.Leu949Pro)
n.5592T>C
c.5411T>C (p.Leu1804Pro)
c.5405T>C (p.Leu1802Pro)
c.3809T>C (p.Leu1270Pro)
n.5618T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102879699A>TCA341210759COL11A1c.5258T>A (p.Leu1753Gln)
n.631T>A
c.5141T>A (p.Leu1714Gln)
c.5294T>A (p.Leu1765Gln)
n.320T>A
c.4910T>A (p.Leu1637Gln)
c.4592T>A
c.3491T>A (p.Leu1164Gln)
c.2846T>A (p.Leu949Gln)
n.5592T>A
c.5411T>A (p.Leu1804Gln)
c.5405T>A (p.Leu1802Gln)
c.3809T>A (p.Leu1270Gln)
n.5618T>A
 ClinVar dbSNP
1g.102879700G>ACA419253359COL11A1c.5257C>T (p.Leu1753=)
n.630C>T
c.5140C>T (p.Leu1714=)
c.5293C>T (p.Leu1765=)
n.319C>T
c.4909C>T (p.Leu1637=)
c.4591C>T
c.3490C>T (p.Leu1164=)
c.2845C>T (p.Leu949=)
n.5591C>T
c.5410C>T (p.Leu1804=)
c.5404C>T (p.Leu1802=)
c.3808C>T (p.Leu1270=)
n.5617C>T
 gnomAD v4
1g.102879700G>CCA341210760COL11A1c.5257C>G (p.Leu1753Val)
n.630C>G
c.5140C>G (p.Leu1714Val)
c.5293C>G (p.Leu1765Val)
n.319C>G
c.4909C>G (p.Leu1637Val)
c.4591C>G
c.3490C>G (p.Leu1164Val)
c.2845C>G (p.Leu949Val)
n.5591C>G
c.5410C>G (p.Leu1804Val)
c.5404C>G (p.Leu1802Val)
c.3808C>G (p.Leu1270Val)
n.5617C>G
 gnomAD v4
1g.102879700G>TCA341210761COL11A1c.5257C>A (p.Leu1753Met)
n.630C>A
c.5140C>A (p.Leu1714Met)
c.5293C>A (p.Leu1765Met)
n.319C>A
c.4909C>A (p.Leu1637Met)
c.4591C>A
c.3490C>A (p.Leu1164Met)
c.2845C>A (p.Leu949Met)
n.5591C>A
c.5410C>A (p.Leu1804Met)
c.5404C>A (p.Leu1802Met)
c.3808C>A (p.Leu1270Met)
n.5617C>A
1g.102879701T>ACA419253360COL11A1c.5256A>T (p.Thr1752=)
n.629A>T
c.5139A>T (p.Thr1713=)
c.5292A>T (p.Thr1764=)
n.318A>T
c.4908A>T (p.Thr1636=)
c.4590A>T
c.3489A>T (p.Thr1163=)
c.2844A>T (p.Thr948=)
n.5590A>T
c.5409A>T (p.Thr1803=)
c.5403A>T (p.Thr1801=)
c.3807A>T (p.Thr1269=)
n.5616A>T
1g.102879701T>CCA419253361COL11A1c.5256A>G (p.Thr1752=)
n.629A>G
c.5139A>G (p.Thr1713=)
c.5292A>G (p.Thr1764=)
n.318A>G
c.4908A>G (p.Thr1636=)
c.4590A>G
c.3489A>G (p.Thr1163=)
c.2844A>G (p.Thr948=)
n.5590A>G
c.5409A>G (p.Thr1803=)
c.5403A>G (p.Thr1801=)
c.3807A>G (p.Thr1269=)
n.5616A>G
1g.102879701T>GCA419253362COL11A1c.5256A>C (p.Thr1752=)
n.629A>C
c.5139A>C (p.Thr1713=)
c.5292A>C (p.Thr1764=)
n.318A>C
c.4908A>C (p.Thr1636=)
c.4590A>C
c.3489A>C (p.Thr1163=)
c.2844A>C (p.Thr948=)
n.5590A>C
c.5409A>C (p.Thr1803=)
c.5403A>C (p.Thr1801=)
c.3807A>C (p.Thr1269=)
n.5616A>C
1g.102879702G>ACA973282COL11A1c.5255C>T (p.Thr1752Ile)
n.628C>T
c.5138C>T (p.Thr1713Ile)
c.5291C>T (p.Thr1764Ile)
n.317C>T
c.4907C>T (p.Thr1636Ile)
c.4589C>T
c.3488C>T (p.Thr1163Ile)
c.2843C>T (p.Thr948Ile)
n.5589C>T
c.5408C>T (p.Thr1803Ile)
c.5402C>T (p.Thr1801Ile)
c.3806C>T (p.Thr1269Ile)
n.5615C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879702G>CCA341210763COL11A1c.5255C>G (p.Thr1752Arg)
n.628C>G
c.5138C>G (p.Thr1713Arg)
c.5291C>G (p.Thr1764Arg)
n.317C>G
c.4907C>G (p.Thr1636Arg)
c.4589C>G
c.3488C>G (p.Thr1163Arg)
c.2843C>G (p.Thr948Arg)
n.5589C>G
c.5408C>G (p.Thr1803Arg)
c.5402C>G (p.Thr1801Arg)
c.3806C>G (p.Thr1269Arg)
n.5615C>G
1g.102879702G=CA1148404375COL11A1c.5255C= (p.Thr1752=)
n.628C=
c.5138C= (p.Thr1713=)
c.5291C= (p.Thr1764=)
n.317C=
c.4907C= (p.Thr1636=)
c.4589C=
c.3488C= (p.Thr1163=)
c.2843C= (p.Thr948=)
n.5589C=
c.5408C= (p.Thr1803=)
c.5402C= (p.Thr1801=)
c.3806C= (p.Thr1269=)
n.5615C=
1g.102879702G>TCA341210762COL11A1c.5255C>A (p.Thr1752Lys)
n.628C>A
c.5138C>A (p.Thr1713Lys)
c.5291C>A (p.Thr1764Lys)
n.317C>A
c.4907C>A (p.Thr1636Lys)
c.4589C>A
c.3488C>A (p.Thr1163Lys)
c.2843C>A (p.Thr948Lys)
n.5589C>A
c.5408C>A (p.Thr1803Lys)
c.5402C>A (p.Thr1801Lys)
c.3806C>A (p.Thr1269Lys)
n.5615C>A
 COSMIC
1g.102879703T>ACA341210764COL11A1c.5254A>T (p.Thr1752Ser)
n.627A>T
c.5137A>T (p.Thr1713Ser)
c.5290A>T (p.Thr1764Ser)
n.316A>T
c.4906A>T (p.Thr1636Ser)
c.4588A>T
c.3487A>T (p.Thr1163Ser)
c.2842A>T (p.Thr948Ser)
n.5588A>T
c.5407A>T (p.Thr1803Ser)
c.5401A>T (p.Thr1801Ser)
c.3805A>T (p.Thr1269Ser)
n.5614A>T
1g.102879703T>CCA341210765COL11A1c.5254A>G (p.Thr1752Ala)
n.627A>G
c.5137A>G (p.Thr1713Ala)
c.5290A>G (p.Thr1764Ala)
n.316A>G
c.4906A>G (p.Thr1636Ala)
c.4588A>G
c.3487A>G (p.Thr1163Ala)
c.2842A>G (p.Thr948Ala)
n.5588A>G
c.5407A>G (p.Thr1803Ala)
c.5401A>G (p.Thr1801Ala)
c.3805A>G (p.Thr1269Ala)
n.5614A>G
 dbSNP COSMIC COSMIC
1g.102879703T>GCA341210766COL11A1c.5254A>C (p.Thr1752Pro)
n.627A>C
c.5137A>C (p.Thr1713Pro)
c.5290A>C (p.Thr1764Pro)
n.316A>C
c.4906A>C (p.Thr1636Pro)
c.4588A>C
c.3487A>C (p.Thr1163Pro)
c.2842A>C (p.Thr948Pro)
n.5588A>C
c.5407A>C (p.Thr1803Pro)
c.5401A>C (p.Thr1801Pro)
c.3805A>C (p.Thr1269Pro)
n.5614A>C
1g.102879704T>ACA341210767COL11A1c.5253A>T (p.Lys1751Asn)
n.626A>T
c.5136A>T (p.Lys1712Asn)
c.5289A>T (p.Lys1763Asn)
n.315A>T
c.4905A>T (p.Lys1635Asn)
c.4587A>T
c.3486A>T (p.Lys1162Asn)
c.2841A>T (p.Lys947Asn)
n.5587A>T
c.5406A>T (p.Lys1802Asn)
c.5400A>T (p.Lys1800Asn)
c.3804A>T (p.Lys1268Asn)
n.5613A>T
1g.102879704T>CCA973283COL11A1c.5253A>G (p.Lys1751=)
n.626A>G
c.5136A>G (p.Lys1712=)
c.5289A>G (p.Lys1763=)
n.315A>G
c.4905A>G (p.Lys1635=)
c.4587A>G
c.3486A>G (p.Lys1162=)
c.2841A>G (p.Lys947=)
n.5587A>G
c.5406A>G (p.Lys1802=)
c.5400A>G (p.Lys1800=)
c.3804A>G (p.Lys1268=)
n.5613A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102879704T>GCA28150829COL11A1c.5253A>C (p.Lys1751Asn)
n.626A>C
c.5136A>C (p.Lys1712Asn)
c.5289A>C (p.Lys1763Asn)
n.315A>C
c.4905A>C (p.Lys1635Asn)
c.4587A>C
c.3486A>C (p.Lys1162Asn)
c.2841A>C (p.Lys947Asn)
n.5587A>C
c.5406A>C (p.Lys1802Asn)
c.5400A>C (p.Lys1800Asn)
c.3804A>C (p.Lys1268Asn)
n.5613A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102879704T=CA1145545477COL11A1c.5253A= (p.Lys1751=)
n.626A=
c.5136A= (p.Lys1712=)
c.5289A= (p.Lys1763=)
n.315A=
c.4905A= (p.Lys1635=)
c.4587A=
c.3486A= (p.Lys1162=)
c.2841A= (p.Lys947=)
n.5587A=
c.5406A= (p.Lys1802=)
c.5400A= (p.Lys1800=)
c.3804A= (p.Lys1268=)
n.5613A=
1g.102879705T>ACA28150830COL11A1c.5252A>T (p.Lys1751Ile)
n.625A>T
c.5135A>T (p.Lys1712Ile)
c.5288A>T (p.Lys1763Ile)
n.314A>T
c.4904A>T (p.Lys1635Ile)
c.4586A>T
c.3485A>T (p.Lys1162Ile)
c.2840A>T (p.Lys947Ile)
n.5586A>T
c.5405A>T (p.Lys1802Ile)
c.5399A>T (p.Lys1800Ile)
c.3803A>T (p.Lys1268Ile)
n.5612A>T
 dbSNP
1g.102879705T>CCA341210768COL11A1c.5252A>G (p.Lys1751Arg)
n.625A>G
c.5135A>G (p.Lys1712Arg)
c.5288A>G (p.Lys1763Arg)
n.314A>G
c.4904A>G (p.Lys1635Arg)
c.4586A>G
c.3485A>G (p.Lys1162Arg)
c.2840A>G (p.Lys947Arg)
n.5586A>G
c.5405A>G (p.Lys1802Arg)
c.5399A>G (p.Lys1800Arg)
c.3803A>G (p.Lys1268Arg)
n.5612A>G
 dbSNP gnomAD v3 gnomAD v4
1g.102879705T>GCA341210769COL11A1c.5252A>C (p.Lys1751Thr)
n.625A>C
c.5135A>C (p.Lys1712Thr)
c.5288A>C (p.Lys1763Thr)
n.314A>C
c.4904A>C (p.Lys1635Thr)
c.4586A>C
c.3485A>C (p.Lys1162Thr)
c.2840A>C (p.Lys947Thr)
n.5586A>C
c.5405A>C (p.Lys1802Thr)
c.5399A>C (p.Lys1800Thr)
c.3803A>C (p.Lys1268Thr)
n.5612A>C
1g.102879705T=CA1147753874COL11A1c.5252A= (p.Lys1751=)
n.625A=
c.5135A= (p.Lys1712=)
c.5288A= (p.Lys1763=)
n.314A=
c.4904A= (p.Lys1635=)
c.4586A=
c.3485A= (p.Lys1162=)
c.2840A= (p.Lys947=)
n.5586A=
c.5405A= (p.Lys1802=)
c.5399A= (p.Lys1800=)
c.3803A= (p.Lys1268=)
n.5612A=
1g.102879706T>ACA341210770COL11A1c.5251A>T (p.Lys1751Ter)
n.624A>T
c.5134A>T (p.Lys1712Ter)
c.5287A>T (p.Lys1763Ter)
n.313A>T
c.4903A>T (p.Lys1635Ter)
c.4585A>T
c.3484A>T (p.Lys1162Ter)
c.2839A>T (p.Lys947Ter)
n.5585A>T
c.5404A>T (p.Lys1802Ter)
c.5398A>T (p.Lys1800Ter)
c.3802A>T (p.Lys1268Ter)
n.5611A>T
1g.102879706T>CCA341210771COL11A1c.5251A>G (p.Lys1751Glu)
n.624A>G
c.5134A>G (p.Lys1712Glu)
c.5287A>G (p.Lys1763Glu)
n.313A>G
c.4903A>G (p.Lys1635Glu)
c.4585A>G
c.3484A>G (p.Lys1162Glu)
c.2839A>G (p.Lys947Glu)
n.5585A>G
c.5404A>G (p.Lys1802Glu)
c.5398A>G (p.Lys1800Glu)
c.3802A>G (p.Lys1268Glu)
n.5611A>G
 gnomAD v4
1g.102879706T>GCA341210772COL11A1c.5251A>C (p.Lys1751Gln)
n.624A>C
c.5134A>C (p.Lys1712Gln)
c.5287A>C (p.Lys1763Gln)
n.313A>C
c.4903A>C (p.Lys1635Gln)
c.4585A>C
c.3484A>C (p.Lys1162Gln)
c.2839A>C (p.Lys947Gln)
n.5585A>C
c.5404A>C (p.Lys1802Gln)
c.5398A>C (p.Lys1800Gln)
c.3802A>C (p.Lys1268Gln)
n.5611A>C
1g.102879707G>ACA419253363COL11A1c.5250C>T (p.Ile1750=)
n.623C>T
c.5133C>T (p.Ile1711=)
c.5286C>T (p.Ile1762=)
n.312C>T
c.4902C>T (p.Ile1634=)
c.4584C>T
c.3483C>T (p.Ile1161=)
c.2838C>T (p.Ile946=)
n.5584C>T
c.5403C>T (p.Ile1801=)
c.5397C>T (p.Ile1799=)
c.3801C>T (p.Ile1267=)
n.5610C>T
 ClinVar gnomAD v4
1g.102879707G>CCA341210773COL11A1c.5250C>G (p.Ile1750Met)
n.623C>G
c.5133C>G (p.Ile1711Met)
c.5286C>G (p.Ile1762Met)
n.312C>G
c.4902C>G (p.Ile1634Met)
c.4584C>G
c.3483C>G (p.Ile1161Met)
c.2838C>G (p.Ile946Met)
n.5584C>G
c.5403C>G (p.Ile1801Met)
c.5397C>G (p.Ile1799Met)
c.3801C>G (p.Ile1267Met)
n.5610C>G
1g.102879707G>TCA419253364COL11A1c.5250C>A (p.Ile1750=)
n.623C>A
c.5133C>A (p.Ile1711=)
c.5286C>A (p.Ile1762=)
n.312C>A
c.4902C>A (p.Ile1634=)
c.4584C>A
c.3483C>A (p.Ile1161=)
c.2838C>A (p.Ile946=)
n.5584C>A
c.5403C>A (p.Ile1801=)
c.5397C>A (p.Ile1799=)
c.3801C>A (p.Ile1267=)
n.5610C>A
1g.102879708A>CCA341210775COL11A1c.5249T>G (p.Ile1750Ser)
n.622T>G
c.5132T>G (p.Ile1711Ser)
c.5285T>G (p.Ile1762Ser)
n.311T>G
c.4901T>G (p.Ile1634Ser)
c.4583T>G
c.3482T>G (p.Ile1161Ser)
c.2837T>G (p.Ile946Ser)
n.5583T>G
c.5402T>G (p.Ile1801Ser)
c.5396T>G (p.Ile1799Ser)
c.3800T>G (p.Ile1267Ser)
n.5609T>G
 COSMIC COSMIC
1g.102879708A>GCA341210776COL11A1c.5249T>C (p.Ile1750Thr)
n.622T>C
c.5132T>C (p.Ile1711Thr)
c.5285T>C (p.Ile1762Thr)
n.311T>C
c.4901T>C (p.Ile1634Thr)
c.4583T>C
c.3482T>C (p.Ile1161Thr)
c.2837T>C (p.Ile946Thr)
n.5583T>C
c.5402T>C (p.Ile1801Thr)
c.5396T>C (p.Ile1799Thr)
c.3800T>C (p.Ile1267Thr)
n.5609T>C
 ClinVar dbSNP
1g.102879708A>TCA341210774COL11A1c.5249T>A (p.Ile1750Asn)
n.622T>A
c.5132T>A (p.Ile1711Asn)
c.5285T>A (p.Ile1762Asn)
n.311T>A
c.4901T>A (p.Ile1634Asn)
c.4583T>A
c.3482T>A (p.Ile1161Asn)
c.2837T>A (p.Ile946Asn)
n.5583T>A
c.5402T>A (p.Ile1801Asn)
c.5396T>A (p.Ile1799Asn)
c.3800T>A (p.Ile1267Asn)
n.5609T>A
1g.102879709T>ACA341210777COL11A1c.5248A>T (p.Ile1750Phe)
n.621A>T
c.5131A>T (p.Ile1711Phe)
c.5284A>T (p.Ile1762Phe)
n.310A>T
c.4900A>T (p.Ile1634Phe)
c.4582A>T
c.3481A>T (p.Ile1161Phe)
c.2836A>T (p.Ile946Phe)
n.5582A>T
c.5401A>T (p.Ile1801Phe)
c.5395A>T (p.Ile1799Phe)
c.3799A>T (p.Ile1267Phe)
n.5608A>T
1g.102879709T>CCA341210778COL11A1c.5248A>G (p.Ile1750Val)
n.621A>G
c.5131A>G (p.Ile1711Val)
c.5284A>G (p.Ile1762Val)
n.310A>G
c.4900A>G (p.Ile1634Val)
c.4582A>G
c.3481A>G (p.Ile1161Val)
c.2836A>G (p.Ile946Val)
n.5582A>G
c.5401A>G (p.Ile1801Val)
c.5395A>G (p.Ile1799Val)
c.3799A>G (p.Ile1267Val)
n.5608A>G
1g.102879709T>GCA341210779COL11A1c.5248A>C (p.Ile1750Leu)
n.621A>C
c.5131A>C (p.Ile1711Leu)
c.5284A>C (p.Ile1762Leu)
n.310A>C
c.4900A>C (p.Ile1634Leu)
c.4582A>C
c.3481A>C (p.Ile1161Leu)
c.2836A>C (p.Ile946Leu)
n.5582A>C
c.5401A>C (p.Ile1801Leu)
c.5395A>C (p.Ile1799Leu)
c.3799A>C (p.Ile1267Leu)
n.5608A>C
1g.102879710A>CCA341210780COL11A1c.5247T>G (p.Phe1749Leu)
n.620T>G
c.5130T>G (p.Phe1710Leu)
c.5283T>G (p.Phe1761Leu)
n.309T>G
c.4899T>G (p.Phe1633Leu)
c.4581T>G
c.3480T>G (p.Phe1160Leu)
c.2835T>G (p.Phe945Leu)
n.5581T>G
c.5400T>G (p.Phe1800Leu)
c.5394T>G (p.Phe1798Leu)
c.3798T>G (p.Phe1266Leu)
n.5607T>G
1g.102879710A>GCA419253365COL11A1c.5247T>C (p.Phe1749=)
n.620T>C
c.5130T>C (p.Phe1710=)
c.5283T>C (p.Phe1761=)
n.309T>C
c.4899T>C (p.Phe1633=)
c.4581T>C
c.3480T>C (p.Phe1160=)
c.2835T>C (p.Phe945=)
n.5581T>C
c.5400T>C (p.Phe1800=)
c.5394T>C (p.Phe1798=)
c.3798T>C (p.Phe1266=)
n.5607T>C
 ClinVar dbSNP gnomAD v4
1g.102879710A>TCA341210781COL11A1c.5247T>A (p.Phe1749Leu)
n.620T>A
c.5130T>A (p.Phe1710Leu)
c.5283T>A (p.Phe1761Leu)
n.309T>A
c.4899T>A (p.Phe1633Leu)
c.4581T>A
c.3480T>A (p.Phe1160Leu)
c.2835T>A (p.Phe945Leu)
n.5581T>A
c.5400T>A (p.Phe1800Leu)
c.5394T>A (p.Phe1798Leu)
c.3798T>A (p.Phe1266Leu)
n.5607T>A
1g.102879711A=CA1185228004COL11A1c.5246T= (p.Phe1749=)
n.619T=
c.5129T= (p.Phe1710=)
c.5282T= (p.Phe1761=)
n.308T=
c.4898T= (p.Phe1633=)
c.4580T=
c.3479T= (p.Phe1160=)
c.2834T= (p.Phe945=)
n.5580T=
c.5399T= (p.Phe1800=)
c.5393T= (p.Phe1798=)
c.3797T= (p.Phe1266=)
n.5606T=
1g.102879711A>CCA341210782COL11A1c.5246T>G (p.Phe1749Cys)
n.619T>G
c.5129T>G (p.Phe1710Cys)
c.5282T>G (p.Phe1761Cys)
n.308T>G
c.4898T>G (p.Phe1633Cys)
c.4580T>G
c.3479T>G (p.Phe1160Cys)
c.2834T>G (p.Phe945Cys)
n.5580T>G
c.5399T>G (p.Phe1800Cys)
c.5393T>G (p.Phe1798Cys)
c.3797T>G (p.Phe1266Cys)
n.5606T>G
1g.102879711A>GCA341210783COL11A1c.5246T>C (p.Phe1749Ser)
n.619T>C
c.5129T>C (p.Phe1710Ser)
c.5282T>C (p.Phe1761Ser)
n.308T>C
c.4898T>C (p.Phe1633Ser)
c.4580T>C
c.3479T>C (p.Phe1160Ser)
c.2834T>C (p.Phe945Ser)
n.5580T>C
c.5399T>C (p.Phe1800Ser)
c.5393T>C (p.Phe1798Ser)
c.3797T>C (p.Phe1266Ser)
n.5606T>C
 dbSNP
1g.102879711A>TCA341210784COL11A1c.5246T>A (p.Phe1749Tyr)
n.619T>A
c.5129T>A (p.Phe1710Tyr)
c.5282T>A (p.Phe1761Tyr)
n.308T>A
c.4898T>A (p.Phe1633Tyr)
c.4580T>A
c.3479T>A (p.Phe1160Tyr)
c.2834T>A (p.Phe945Tyr)
n.5580T>A
c.5399T>A (p.Phe1800Tyr)
c.5393T>A (p.Phe1798Tyr)
c.3797T>A (p.Phe1266Tyr)
n.5606T>A
1g.102879712A>CCA341210785COL11A1c.5245T>G (p.Phe1749Val)
n.618T>G
c.5128T>G (p.Phe1710Val)
c.5281T>G (p.Phe1761Val)
n.307T>G
c.4897T>G (p.Phe1633Val)
c.4579T>G
c.3478T>G (p.Phe1160Val)
c.2833T>G (p.Phe945Val)
n.5579T>G
c.5398T>G (p.Phe1800Val)
c.5392T>G (p.Phe1798Val)
c.3796T>G (p.Phe1266Val)
n.5605T>G
 gnomAD v4
1g.102879712A>GCA341210786COL11A1c.5245T>C (p.Phe1749Leu)
n.618T>C
c.5128T>C (p.Phe1710Leu)
c.5281T>C (p.Phe1761Leu)
n.307T>C
c.4897T>C (p.Phe1633Leu)
c.4579T>C
c.3478T>C (p.Phe1160Leu)
c.2833T>C (p.Phe945Leu)
n.5579T>C
c.5398T>C (p.Phe1800Leu)
c.5392T>C (p.Phe1798Leu)
c.3796T>C (p.Phe1266Leu)
n.5605T>C
1g.102879712A>TCA341210787COL11A1c.5245T>A (p.Phe1749Ile)
n.618T>A
c.5128T>A (p.Phe1710Ile)
c.5281T>A (p.Phe1761Ile)
n.307T>A
c.4897T>A (p.Phe1633Ile)
c.4579T>A
c.3478T>A (p.Phe1160Ile)
c.2833T>A (p.Phe945Ile)
n.5579T>A
c.5398T>A (p.Phe1800Ile)
c.5392T>A (p.Phe1798Ile)
c.3796T>A (p.Phe1266Ile)
n.5605T>A
1g.102879713A>CCA419253366COL11A1c.5244T>G (p.Pro1748=)
n.617T>G
c.5127T>G (p.Pro1709=)
c.5280T>G (p.Pro1760=)
n.306T>G
c.4896T>G (p.Pro1632=)
c.4578T>G
c.3477T>G (p.Pro1159=)
c.2832T>G (p.Pro944=)
n.5578T>G
c.5397T>G (p.Pro1799=)
c.5391T>G (p.Pro1797=)
c.3795T>G (p.Pro1265=)
n.5604T>G
1g.102879713A>GCA419253367COL11A1c.5244T>C (p.Pro1748=)
n.617T>C
c.5127T>C (p.Pro1709=)
c.5280T>C (p.Pro1760=)
n.306T>C
c.4896T>C (p.Pro1632=)
c.4578T>C
c.3477T>C (p.Pro1159=)
c.2832T>C (p.Pro944=)
n.5578T>C
c.5397T>C (p.Pro1799=)
c.5391T>C (p.Pro1797=)
c.3795T>C (p.Pro1265=)
n.5604T>C
1g.102879713A>TCA419253368COL11A1c.5244T>A (p.Pro1748=)
n.617T>A
c.5127T>A (p.Pro1709=)
c.5280T>A (p.Pro1760=)
n.306T>A
c.4896T>A (p.Pro1632=)
c.4578T>A
c.3477T>A (p.Pro1159=)
c.2832T>A (p.Pro944=)
n.5578T>A
c.5397T>A (p.Pro1799=)
c.5391T>A (p.Pro1797=)
c.3795T>A (p.Pro1265=)
n.5604T>A
1g.102879714G>ACA341210790COL11A1c.5243C>T (p.Pro1748Leu)
n.616C>T
c.5126C>T (p.Pro1709Leu)
c.5279C>T (p.Pro1760Leu)
n.305C>T
c.4895C>T (p.Pro1632Leu)
c.4577C>T
c.3476C>T (p.Pro1159Leu)
c.2831C>T (p.Pro944Leu)
n.5577C>T
c.5396C>T (p.Pro1799Leu)
c.5390C>T (p.Pro1797Leu)
c.3794C>T (p.Pro1265Leu)
n.5603C>T
 COSMIC COSMIC
1g.102879714G>CCA341210789COL11A1c.5243C>G (p.Pro1748Arg)
n.616C>G
c.5126C>G (p.Pro1709Arg)
c.5279C>G (p.Pro1760Arg)
n.305C>G
c.4895C>G (p.Pro1632Arg)
c.4577C>G
c.3476C>G (p.Pro1159Arg)
c.2831C>G (p.Pro944Arg)
n.5577C>G
c.5396C>G (p.Pro1799Arg)
c.5390C>G (p.Pro1797Arg)
c.3794C>G (p.Pro1265Arg)
n.5603C>G
 COSMIC COSMIC
1g.102879714G>TCA341210788COL11A1c.5243C>A (p.Pro1748His)
n.616C>A
c.5126C>A (p.Pro1709His)
c.5279C>A (p.Pro1760His)
n.305C>A
c.4895C>A (p.Pro1632His)
c.4577C>A
c.3476C>A (p.Pro1159His)
c.2831C>A (p.Pro944His)
n.5577C>A
c.5396C>A (p.Pro1799His)
c.5390C>A (p.Pro1797His)
c.3794C>A (p.Pro1265His)
n.5603C>A
 ClinVar dbSNP gnomAD v4
1g.102879715G>ACA341210791COL11A1c.5242C>T (p.Pro1748Ser)
n.615C>T
c.5125C>T (p.Pro1709Ser)
c.5278C>T (p.Pro1760Ser)
n.304C>T
c.4894C>T (p.Pro1632Ser)
c.4576C>T
c.3475C>T (p.Pro1159Ser)
c.2830C>T (p.Pro944Ser)
n.5576C>T
c.5395C>T (p.Pro1799Ser)
c.5389C>T (p.Pro1797Ser)
c.3793C>T (p.Pro1265Ser)
n.5602C>T
 COSMIC COSMIC
1g.102879715G>CCA341210792COL11A1c.5242C>G (p.Pro1748Ala)
n.615C>G
c.5125C>G (p.Pro1709Ala)
c.5278C>G (p.Pro1760Ala)
n.304C>G
c.4894C>G (p.Pro1632Ala)
c.4576C>G
c.3475C>G (p.Pro1159Ala)
c.2830C>G (p.Pro944Ala)
n.5576C>G
c.5395C>G (p.Pro1799Ala)
c.5389C>G (p.Pro1797Ala)
c.3793C>G (p.Pro1265Ala)
n.5602C>G
1g.102879715G>TCA341210793COL11A1c.5242C>A (p.Pro1748Thr)
n.615C>A
c.5125C>A (p.Pro1709Thr)
c.5278C>A (p.Pro1760Thr)
n.304C>A
c.4894C>A (p.Pro1632Thr)
c.4576C>A
c.3475C>A (p.Pro1159Thr)
c.2830C>A (p.Pro944Thr)
n.5576C>A
c.5395C>A (p.Pro1799Thr)
c.5389C>A (p.Pro1797Thr)
c.3793C>A (p.Pro1265Thr)
n.5602C>A
1g.102879716A>CCA341210794COL11A1c.5241T>G (p.Asn1747Lys)
n.614T>G
c.5124T>G (p.Asn1708Lys)
c.5277T>G (p.Asn1759Lys)
n.303T>G
c.4893T>G (p.Asn1631Lys)
c.4575T>G
c.3474T>G (p.Asn1158Lys)
c.2829T>G (p.Asn943Lys)
n.5575T>G
c.5394T>G (p.Asn1798Lys)
c.5388T>G (p.Asn1796Lys)
c.3792T>G (p.Asn1264Lys)
n.5601T>G
1g.102879716A>GCA419253369COL11A1c.5241T>C (p.Asn1747=)
n.614T>C
c.5124T>C (p.Asn1708=)
c.5277T>C (p.Asn1759=)
n.303T>C
c.4893T>C (p.Asn1631=)
c.4575T>C
c.3474T>C (p.Asn1158=)
c.2829T>C (p.Asn943=)
n.5575T>C
c.5394T>C (p.Asn1798=)
c.5388T>C (p.Asn1796=)
c.3792T>C (p.Asn1264=)
n.5601T>C
 dbSNP gnomAD v4
1g.102879716A>TCA341210795COL11A1c.5241T>A (p.Asn1747Lys)
n.614T>A
c.5124T>A (p.Asn1708Lys)
c.5277T>A (p.Asn1759Lys)
n.303T>A
c.4893T>A (p.Asn1631Lys)
c.4575T>A
c.3474T>A (p.Asn1158Lys)
c.2829T>A (p.Asn943Lys)
n.5575T>A
c.5394T>A (p.Asn1798Lys)
c.5388T>A (p.Asn1796Lys)
c.3792T>A (p.Asn1264Lys)
n.5601T>A
1g.102879717T>ACA341210796COL11A1c.5240A>T (p.Asn1747Ile)
n.613A>T
c.5123A>T (p.Asn1708Ile)
c.5276A>T (p.Asn1759Ile)
n.302A>T
c.4892A>T (p.Asn1631Ile)
c.4574A>T
c.3473A>T (p.Asn1158Ile)
c.2828A>T (p.Asn943Ile)
n.5574A>T
c.5393A>T (p.Asn1798Ile)
c.5387A>T (p.Asn1796Ile)
c.3791A>T (p.Asn1264Ile)
n.5600A>T
1g.102879717T>CCA341210797COL11A1c.5240A>G (p.Asn1747Ser)
n.613A>G
c.5123A>G (p.Asn1708Ser)
c.5276A>G (p.Asn1759Ser)
n.302A>G
c.4892A>G (p.Asn1631Ser)
c.4574A>G
c.3473A>G (p.Asn1158Ser)
c.2828A>G (p.Asn943Ser)
n.5574A>G
c.5393A>G (p.Asn1798Ser)
c.5387A>G (p.Asn1796Ser)
c.3791A>G (p.Asn1264Ser)
n.5600A>G
1g.102879717T>GCA341210798COL11A1c.5240A>C (p.Asn1747Thr)
n.613A>C
c.5123A>C (p.Asn1708Thr)
c.5276A>C (p.Asn1759Thr)
n.302A>C
c.4892A>C (p.Asn1631Thr)
c.4574A>C
c.3473A>C (p.Asn1158Thr)
c.2828A>C (p.Asn943Thr)
n.5574A>C
c.5393A>C (p.Asn1798Thr)
c.5387A>C (p.Asn1796Thr)
c.3791A>C (p.Asn1264Thr)
n.5600A>C
1g.102879718T>ACA341210799COL11A1c.5239A>T (p.Asn1747Tyr)
n.612A>T
c.5122A>T (p.Asn1708Tyr)
c.5275A>T (p.Asn1759Tyr)
n.301A>T
c.4891A>T (p.Asn1631Tyr)
c.4573A>T
c.3472A>T (p.Asn1158Tyr)
c.2827A>T (p.Asn943Tyr)
n.5573A>T
c.5392A>T (p.Asn1798Tyr)
c.5386A>T (p.Asn1796Tyr)
c.3790A>T (p.Asn1264Tyr)
n.5599A>T
1g.102879718T>CCA341210800COL11A1c.5239A>G (p.Asn1747Asp)
n.612A>G
c.5122A>G (p.Asn1708Asp)
c.5275A>G (p.Asn1759Asp)
n.301A>G
c.4891A>G (p.Asn1631Asp)
c.4573A>G
c.3472A>G (p.Asn1158Asp)
c.2827A>G (p.Asn943Asp)
n.5573A>G
c.5392A>G (p.Asn1798Asp)
c.5386A>G (p.Asn1796Asp)
c.3790A>G (p.Asn1264Asp)
n.5599A>G
1g.102879718T>GCA341210801COL11A1c.5239A>C (p.Asn1747His)
n.612A>C
c.5122A>C (p.Asn1708His)
c.5275A>C (p.Asn1759His)
n.301A>C
c.4891A>C (p.Asn1631His)
c.4573A>C
c.3472A>C (p.Asn1158His)
c.2827A>C (p.Asn943His)
n.5573A>C
c.5392A>C (p.Asn1798His)
c.5386A>C (p.Asn1796His)
c.3790A>C (p.Asn1264His)
n.5599A>C
1g.102879719A>CCA341210802COL11A1c.5238T>G (p.Asn1746Lys)
n.611T>G
c.5121T>G (p.Asn1707Lys)
c.5274T>G (p.Asn1758Lys)
n.300T>G
c.4890T>G (p.Asn1630Lys)
c.4572T>G
c.3471T>G (p.Asn1157Lys)
c.2826T>G (p.Asn942Lys)
n.5572T>G
c.5391T>G (p.Asn1797Lys)
c.5385T>G (p.Asn1795Lys)
c.3789T>G (p.Asn1263Lys)
n.5598T>G
 ClinVar dbSNP
1g.102879719A>GCA419253370COL11A1c.5238T>C (p.Asn1746=)
n.611T>C
c.5121T>C (p.Asn1707=)
c.5274T>C (p.Asn1758=)
n.300T>C
c.4890T>C (p.Asn1630=)
c.4572T>C
c.3471T>C (p.Asn1157=)
c.2826T>C (p.Asn942=)
n.5572T>C
c.5391T>C (p.Asn1797=)
c.5385T>C (p.Asn1795=)
c.3789T>C (p.Asn1263=)
n.5598T>C
1g.102879719A>TCA341210803COL11A1c.5238T>A (p.Asn1746Lys)
n.611T>A
c.5121T>A (p.Asn1707Lys)
c.5274T>A (p.Asn1758Lys)
n.300T>A
c.4890T>A (p.Asn1630Lys)
c.4572T>A
c.3471T>A (p.Asn1157Lys)
c.2826T>A (p.Asn942Lys)
n.5572T>A
c.5391T>A (p.Asn1797Lys)
c.5385T>A (p.Asn1795Lys)
c.3789T>A (p.Asn1263Lys)
n.5598T>A
1g.102879720T>ACA341210805COL11A1c.5237A>T (p.Asn1746Ile)
n.610A>T
c.5120A>T (p.Asn1707Ile)
c.5273A>T (p.Asn1758Ile)
n.299A>T
c.4889A>T (p.Asn1630Ile)
c.4571A>T
c.3470A>T (p.Asn1157Ile)
c.2825A>T (p.Asn942Ile)
n.5571A>T
c.5390A>T (p.Asn1797Ile)
c.5384A>T (p.Asn1795Ile)
c.3788A>T (p.Asn1263Ile)
n.5597A>T
1g.102879720T>CCA973284COL11A1c.5237A>G (p.Asn1746Ser)
n.610A>G
c.5120A>G (p.Asn1707Ser)
c.5273A>G (p.Asn1758Ser)
n.299A>G
c.4889A>G (p.Asn1630Ser)
c.4571A>G
c.3470A>G (p.Asn1157Ser)
c.2825A>G (p.Asn942Ser)
n.5571A>G
c.5390A>G (p.Asn1797Ser)
c.5384A>G (p.Asn1795Ser)
c.3788A>G (p.Asn1263Ser)
n.5597A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879720T>GCA341210804COL11A1c.5237A>C (p.Asn1746Thr)
n.610A>C
c.5120A>C (p.Asn1707Thr)
c.5273A>C (p.Asn1758Thr)
n.299A>C
c.4889A>C (p.Asn1630Thr)
c.4571A>C
c.3470A>C (p.Asn1157Thr)
c.2825A>C (p.Asn942Thr)
n.5571A>C
c.5390A>C (p.Asn1797Thr)
c.5384A>C (p.Asn1795Thr)
c.3788A>C (p.Asn1263Thr)
n.5597A>C
1g.102879720T=CA1185228005COL11A1c.5237A= (p.Asn1746=)
n.610A=
c.5120A= (p.Asn1707=)
c.5273A= (p.Asn1758=)
n.299A=
c.4889A= (p.Asn1630=)
c.4571A=
c.3470A= (p.Asn1157=)
c.2825A= (p.Asn942=)
n.5571A=
c.5390A= (p.Asn1797=)
c.5384A= (p.Asn1795=)
c.3788A= (p.Asn1263=)
n.5597A=
1g.102879721T>ACA341210806COL11A1c.5236A>T (p.Asn1746Tyr)
n.609A>T
c.5119A>T (p.Asn1707Tyr)
c.5272A>T (p.Asn1758Tyr)
n.298A>T
c.4888A>T (p.Asn1630Tyr)
c.4570A>T
c.3469A>T (p.Asn1157Tyr)
c.2824A>T (p.Asn942Tyr)
n.5570A>T
c.5389A>T (p.Asn1797Tyr)
c.5383A>T (p.Asn1795Tyr)
c.3787A>T (p.Asn1263Tyr)
n.5596A>T
1g.102879721T>CCA973285COL11A1c.5236A>G (p.Asn1746Asp)
n.609A>G
c.5119A>G (p.Asn1707Asp)
c.5272A>G (p.Asn1758Asp)
n.298A>G
c.4888A>G (p.Asn1630Asp)
c.4570A>G
c.3469A>G (p.Asn1157Asp)
c.2824A>G (p.Asn942Asp)
n.5570A>G
c.5389A>G (p.Asn1797Asp)
c.5383A>G (p.Asn1795Asp)
c.3787A>G (p.Asn1263Asp)
n.5596A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879721T>GCA341210807COL11A1c.5236A>C (p.Asn1746His)
n.609A>C
c.5119A>C (p.Asn1707His)
c.5272A>C (p.Asn1758His)
n.298A>C
c.4888A>C (p.Asn1630His)
c.4570A>C
c.3469A>C (p.Asn1157His)
c.2824A>C (p.Asn942His)
n.5570A>C
c.5389A>C (p.Asn1797His)
c.5383A>C (p.Asn1795His)
c.3787A>C (p.Asn1263His)
n.5596A>C
1g.102879721T=CA1148234532COL11A1c.5236A= (p.Asn1746=)
n.609A=
c.5119A= (p.Asn1707=)
c.5272A= (p.Asn1758=)
n.298A=
c.4888A= (p.Asn1630=)
c.4570A=
c.3469A= (p.Asn1157=)
c.2824A= (p.Asn942=)
n.5570A=
c.5389A= (p.Asn1797=)
c.5383A= (p.Asn1795=)
c.3787A= (p.Asn1263=)
n.5596A=
1g.102879722G>ACA419253371COL11A1c.5235C>T (p.Asp1745=)
n.608C>T
c.5118C>T (p.Asp1706=)
c.5271C>T (p.Asp1757=)
n.297C>T
c.4887C>T (p.Asp1629=)
c.4569C>T
c.3468C>T (p.Asp1156=)
c.2823C>T (p.Asp941=)
n.5569C>T
c.5388C>T (p.Asp1796=)
c.5382C>T (p.Asp1794=)
c.3786C>T (p.Asp1262=)
n.5595C>T
1g.102879722G>CCA341210808COL11A1c.5235C>G (p.Asp1745Glu)
n.608C>G
c.5118C>G (p.Asp1706Glu)
c.5271C>G (p.Asp1757Glu)
n.297C>G
c.4887C>G (p.Asp1629Glu)
c.4569C>G
c.3468C>G (p.Asp1156Glu)
c.2823C>G (p.Asp941Glu)
n.5569C>G
c.5388C>G (p.Asp1796Glu)
c.5382C>G (p.Asp1794Glu)
c.3786C>G (p.Asp1262Glu)
n.5595C>G
 ClinVar gnomAD v4
1g.102879722G>TCA341210809COL11A1c.5235C>A (p.Asp1745Glu)
n.608C>A
c.5118C>A (p.Asp1706Glu)
c.5271C>A (p.Asp1757Glu)
n.297C>A
c.4887C>A (p.Asp1629Glu)
c.4569C>A
c.3468C>A (p.Asp1156Glu)
c.2823C>A (p.Asp941Glu)
n.5569C>A
c.5388C>A (p.Asp1796Glu)
c.5382C>A (p.Asp1794Glu)
c.3786C>A (p.Asp1262Glu)
n.5595C>A
1g.102879723T>ACA341210810COL11A1c.5234A>T (p.Asp1745Val)
n.607A>T
c.5117A>T (p.Asp1706Val)
c.5270A>T (p.Asp1757Val)
n.296A>T
c.4886A>T (p.Asp1629Val)
c.4568A>T
c.3467A>T (p.Asp1156Val)
c.2822A>T (p.Asp941Val)
n.5568A>T
c.5387A>T (p.Asp1796Val)
c.5381A>T (p.Asp1794Val)
c.3785A>T (p.Asp1262Val)
n.5594A>T
1g.102879723T>CCA341210811COL11A1c.5234A>G (p.Asp1745Gly)
n.607A>G
c.5117A>G (p.Asp1706Gly)
c.5270A>G (p.Asp1757Gly)
n.296A>G
c.4886A>G (p.Asp1629Gly)
c.4568A>G
c.3467A>G (p.Asp1156Gly)
c.2822A>G (p.Asp941Gly)
n.5568A>G
c.5387A>G (p.Asp1796Gly)
c.5381A>G (p.Asp1794Gly)
c.3785A>G (p.Asp1262Gly)
n.5594A>G
1g.102879723T>GCA341210812COL11A1c.5234A>C (p.Asp1745Ala)
n.607A>C
c.5117A>C (p.Asp1706Ala)
c.5270A>C (p.Asp1757Ala)
n.296A>C
c.4886A>C (p.Asp1629Ala)
c.4568A>C
c.3467A>C (p.Asp1156Ala)
c.2822A>C (p.Asp941Ala)
n.5568A>C
c.5387A>C (p.Asp1796Ala)
c.5381A>C (p.Asp1794Ala)
c.3785A>C (p.Asp1262Ala)
n.5594A>C
1g.102879724C>ACA341210813COL11A1c.5233G>T (p.Asp1745Tyr)
n.606G>T
c.5116G>T (p.Asp1706Tyr)
c.5269G>T (p.Asp1757Tyr)
n.295G>T
c.4885G>T (p.Asp1629Tyr)
c.4567G>T
c.3466G>T (p.Asp1156Tyr)
c.2821G>T (p.Asp941Tyr)
n.5567G>T
c.5386G>T (p.Asp1796Tyr)
c.5380G>T (p.Asp1794Tyr)
c.3784G>T (p.Asp1262Tyr)
n.5593G>T
1g.102879724C>GCA341210814COL11A1c.5233G>C (p.Asp1745His)
n.606G>C
c.5116G>C (p.Asp1706His)
c.5269G>C (p.Asp1757His)
n.295G>C
c.4885G>C (p.Asp1629His)
c.4567G>C
c.3466G>C (p.Asp1156His)
c.2821G>C (p.Asp941His)
n.5567G>C
c.5386G>C (p.Asp1796His)
c.5380G>C (p.Asp1794His)
c.3784G>C (p.Asp1262His)
n.5593G>C
1g.102879724C>TCA341210815COL11A1c.5233G>A (p.Asp1745Asn)
n.606G>A
c.5116G>A (p.Asp1706Asn)
c.5269G>A (p.Asp1757Asn)
n.295G>A
c.4885G>A (p.Asp1629Asn)
c.4567G>A
c.3466G>A (p.Asp1156Asn)
c.2821G>A (p.Asp941Asn)
n.5567G>A
c.5386G>A (p.Asp1796Asn)
c.5380G>A (p.Asp1794Asn)
c.3784G>A (p.Asp1262Asn)
n.5593G>A
1g.102879725A=CA1185228006COL11A1c.5232T= (p.Tyr1744=)
n.605T=
c.5115T= (p.Tyr1705=)
c.5268T= (p.Tyr1756=)
n.294T=
c.4884T= (p.Tyr1628=)
c.4566T=
c.3465T= (p.Tyr1155=)
c.2820T= (p.Tyr940=)
n.5566T=
c.5385T= (p.Tyr1795=)
c.5379T= (p.Tyr1793=)
c.3783T= (p.Tyr1261=)
n.5592T=
1g.102879725A>CCA341210816COL11A1c.5232T>G (p.Tyr1744Ter)
n.605T>G
c.5115T>G (p.Tyr1705Ter)
c.5268T>G (p.Tyr1756Ter)
n.294T>G
c.4884T>G (p.Tyr1628Ter)
c.4566T>G
c.3465T>G (p.Tyr1155Ter)
c.2820T>G (p.Tyr940Ter)
n.5566T>G
c.5385T>G (p.Tyr1795Ter)
c.5379T>G (p.Tyr1793Ter)
c.3783T>G (p.Tyr1261Ter)
n.5592T>G
1g.102879725A>GCA419253372COL11A1c.5232T>C (p.Tyr1744=)
n.605T>C
c.5115T>C (p.Tyr1705=)
c.5268T>C (p.Tyr1756=)
n.294T>C
c.4884T>C (p.Tyr1628=)
c.4566T>C
c.3465T>C (p.Tyr1155=)
c.2820T>C (p.Tyr940=)
n.5566T>C
c.5385T>C (p.Tyr1795=)
c.5379T>C (p.Tyr1793=)
c.3783T>C (p.Tyr1261=)
n.5592T>C
 dbSNP gnomAD v2 gnomAD v4
1g.102879725A>TCA341210817COL11A1c.5232T>A (p.Tyr1744Ter)
n.605T>A
c.5115T>A (p.Tyr1705Ter)
c.5268T>A (p.Tyr1756Ter)
n.294T>A
c.4884T>A (p.Tyr1628Ter)
c.4566T>A
c.3465T>A (p.Tyr1155Ter)
c.2820T>A (p.Tyr940Ter)
n.5566T>A
c.5385T>A (p.Tyr1795Ter)
c.5379T>A (p.Tyr1793Ter)
c.3783T>A (p.Tyr1261Ter)
n.5592T>A
1g.102879726T>ACA973286COL11A1c.5231A>T (p.Tyr1744Phe)
n.604A>T
c.5114A>T (p.Tyr1705Phe)
c.5267A>T (p.Tyr1756Phe)
n.293A>T
c.4883A>T (p.Tyr1628Phe)
c.4565A>T
c.3464A>T (p.Tyr1155Phe)
c.2819A>T (p.Tyr940Phe)
n.5565A>T
c.5384A>T (p.Tyr1795Phe)
c.5378A>T (p.Tyr1793Phe)
c.3782A>T (p.Tyr1261Phe)
n.5591A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879726T>CCA973287COL11A1c.5231A>G (p.Tyr1744Cys)
n.604A>G
c.5114A>G (p.Tyr1705Cys)
c.5267A>G (p.Tyr1756Cys)
n.293A>G
c.4883A>G (p.Tyr1628Cys)
c.4565A>G
c.3464A>G (p.Tyr1155Cys)
c.2819A>G (p.Tyr940Cys)
n.5565A>G
c.5384A>G (p.Tyr1795Cys)
c.5378A>G (p.Tyr1793Cys)
c.3782A>G (p.Tyr1261Cys)
n.5591A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.102879726T>GCA341210818COL11A1c.5231A>C (p.Tyr1744Ser)
n.604A>C
c.5114A>C (p.Tyr1705Ser)
c.5267A>C (p.Tyr1756Ser)
n.293A>C
c.4883A>C (p.Tyr1628Ser)
c.4565A>C
c.3464A>C (p.Tyr1155Ser)
c.2819A>C (p.Tyr940Ser)
n.5565A>C
c.5384A>C (p.Tyr1795Ser)
c.5378A>C (p.Tyr1793Ser)
c.3782A>C (p.Tyr1261Ser)
n.5591A>C
1g.102879726T=CA1185228007COL11A1c.5231A= (p.Tyr1744=)
n.604A=
c.5114A= (p.Tyr1705=)
c.5267A= (p.Tyr1756=)
n.293A=
c.4883A= (p.Tyr1628=)
c.4565A=
c.3464A= (p.Tyr1155=)
c.2819A= (p.Tyr940=)
n.5565A=
c.5384A= (p.Tyr1795=)
c.5378A= (p.Tyr1793=)
c.3782A= (p.Tyr1261=)
n.5591A=
1g.102879727A>CCA341210821COL11A1c.5230T>G (p.Tyr1744Asp)
n.603T>G
c.5113T>G (p.Tyr1705Asp)
c.5266T>G (p.Tyr1756Asp)
n.292T>G
c.4882T>G (p.Tyr1628Asp)
c.4564T>G
c.3463T>G (p.Tyr1155Asp)
c.2818T>G (p.Tyr940Asp)
n.5564T>G
c.5383T>G (p.Tyr1795Asp)
c.5377T>G (p.Tyr1793Asp)
c.3781T>G (p.Tyr1261Asp)
n.5590T>G
1g.102879727A>GCA341210820COL11A1c.5230T>C (p.Tyr1744His)
n.603T>C
c.5113T>C (p.Tyr1705His)
c.5266T>C (p.Tyr1756His)
n.292T>C
c.4882T>C (p.Tyr1628His)
c.4564T>C
c.3463T>C (p.Tyr1155His)
c.2818T>C (p.Tyr940His)
n.5564T>C
c.5383T>C (p.Tyr1795His)
c.5377T>C (p.Tyr1793His)
c.3781T>C (p.Tyr1261His)
n.5590T>C
 gnomAD v4
1g.102879727A>TCA341210819COL11A1c.5230T>A (p.Tyr1744Asn)
n.603T>A
c.5113T>A (p.Tyr1705Asn)
c.5266T>A (p.Tyr1756Asn)
n.292T>A
c.4882T>A (p.Tyr1628Asn)
c.4564T>A
c.3463T>A (p.Tyr1155Asn)
c.2818T>A (p.Tyr940Asn)
n.5564T>A
c.5383T>A (p.Tyr1795Asn)
c.5377T>A (p.Tyr1793Asn)
c.3781T>A (p.Tyr1261Asn)
n.5590T>A
1g.102879728G>ACA419253373COL11A1c.5229C>T (p.Ser1743=)
n.602C>T
c.5112C>T (p.Ser1704=)
c.5265C>T (p.Ser1755=)
n.291C>T
c.4881C>T (p.Ser1627=)
c.4563C>T
c.3462C>T (p.Ser1154=)
c.2817C>T (p.Ser939=)
n.5563C>T
c.5382C>T (p.Ser1794=)
c.5376C>T (p.Ser1792=)
c.3780C>T (p.Ser1260=)
n.5589C>T
 COSMIC COSMIC
1g.102879728G>CCA419253374COL11A1c.5229C>G (p.Ser1743=)
n.602C>G
c.5112C>G (p.Ser1704=)
c.5265C>G (p.Ser1755=)
n.291C>G
c.4881C>G (p.Ser1627=)
c.4563C>G
c.3462C>G (p.Ser1154=)
c.2817C>G (p.Ser939=)
n.5563C>G
c.5382C>G (p.Ser1794=)
c.5376C>G (p.Ser1792=)
c.3780C>G (p.Ser1260=)
n.5589C>G
1g.102879728G>TCA419253375COL11A1c.5229C>A (p.Ser1743=)
n.602C>A
c.5112C>A (p.Ser1704=)
c.5265C>A (p.Ser1755=)
n.291C>A
c.4881C>A (p.Ser1627=)
c.4563C>A
c.3462C>A (p.Ser1154=)
c.2817C>A (p.Ser939=)
n.5563C>A
c.5382C>A (p.Ser1794=)
c.5376C>A (p.Ser1792=)
c.3780C>A (p.Ser1260=)
n.5589C>A
1g.102879729G>ACA341210822COL11A1c.5228C>T (p.Ser1743Phe)
n.601C>T
c.5111C>T (p.Ser1704Phe)
c.5264C>T (p.Ser1755Phe)
n.290C>T
c.4880C>T (p.Ser1627Phe)
c.4562C>T
c.3461C>T (p.Ser1154Phe)
c.2816C>T (p.Ser939Phe)
n.5562C>T
c.5381C>T (p.Ser1794Phe)
c.5375C>T (p.Ser1792Phe)
c.3779C>T (p.Ser1260Phe)
n.5588C>T
 dbSNP gnomAD v4
1g.102879729G>CCA341210823COL11A1c.5228C>G (p.Ser1743Cys)
n.601C>G
c.5111C>G (p.Ser1704Cys)
c.5264C>G (p.Ser1755Cys)
n.290C>G
c.4880C>G (p.Ser1627Cys)
c.4562C>G
c.3461C>G (p.Ser1154Cys)
c.2816C>G (p.Ser939Cys)
n.5562C>G
c.5381C>G (p.Ser1794Cys)
c.5375C>G (p.Ser1792Cys)
c.3779C>G (p.Ser1260Cys)
n.5588C>G
1g.102879729G=CA1185228008COL11A1c.5228C= (p.Ser1743=)
n.601C=
c.5111C= (p.Ser1704=)
c.5264C= (p.Ser1755=)
n.290C=
c.4880C= (p.Ser1627=)
c.4562C=
c.3461C= (p.Ser1154=)
c.2816C= (p.Ser939=)
n.5562C=
c.5381C= (p.Ser1794=)
c.5375C= (p.Ser1792=)
c.3779C= (p.Ser1260=)
n.5588C=
1g.102879729G>TCA341210824COL11A1c.5228C>A (p.Ser1743Tyr)
n.601C>A
c.5111C>A (p.Ser1704Tyr)
c.5264C>A (p.Ser1755Tyr)
n.290C>A
c.4880C>A (p.Ser1627Tyr)
c.4562C>A
c.3461C>A (p.Ser1154Tyr)
c.2816C>A (p.Ser939Tyr)
n.5562C>A
c.5381C>A (p.Ser1794Tyr)
c.5375C>A (p.Ser1792Tyr)
c.3779C>A (p.Ser1260Tyr)
n.5588C>A
 gnomAD v4
1g.102879730A>CCA341210825COL11A1c.5227T>G (p.Ser1743Ala)
n.600T>G
c.5110T>G (p.Ser1704Ala)
c.5263T>G (p.Ser1755Ala)
n.289T>G
c.4879T>G (p.Ser1627Ala)
c.4561T>G
c.3460T>G (p.Ser1154Ala)
c.2815T>G (p.Ser939Ala)
n.5561T>G
c.5380T>G (p.Ser1794Ala)
c.5374T>G (p.Ser1792Ala)
c.3778T>G (p.Ser1260Ala)
n.5587T>G
1g.102879730A>GCA341210826COL11A1c.5227T>C (p.Ser1743Pro)
n.600T>C
c.5110T>C (p.Ser1704Pro)
c.5263T>C (p.Ser1755Pro)
n.289T>C
c.4879T>C (p.Ser1627Pro)
c.4561T>C
c.3460T>C (p.Ser1154Pro)
c.2815T>C (p.Ser939Pro)
n.5561T>C
c.5380T>C (p.Ser1794Pro)
c.5374T>C (p.Ser1792Pro)
c.3778T>C (p.Ser1260Pro)
n.5587T>C
1g.102879730A>TCA341210827COL11A1c.5227T>A (p.Ser1743Thr)
n.600T>A
c.5110T>A (p.Ser1704Thr)
c.5263T>A (p.Ser1755Thr)
n.289T>A
c.4879T>A (p.Ser1627Thr)
c.4561T>A
c.3460T>A (p.Ser1154Thr)
c.2815T>A (p.Ser939Thr)
n.5561T>A
c.5380T>A (p.Ser1794Thr)
c.5374T>A (p.Ser1792Thr)
c.3778T>A (p.Ser1260Thr)
n.5587T>A
1g.102879731C>ACA341210828COL11A1c.5226G>T (p.Met1742Ile)
n.599G>T
c.5109G>T (p.Met1703Ile)
c.5262G>T (p.Met1754Ile)
n.288G>T
c.4878G>T (p.Met1626Ile)
c.4560G>T
c.3459G>T (p.Met1153Ile)
c.2814G>T (p.Met938Ile)
n.5560G>T
c.5379G>T (p.Met1793Ile)
c.5373G>T (p.Met1791Ile)
c.3777G>T (p.Met1259Ile)
n.5586G>T
1g.102879731C=CA1185228009COL11A1c.5226G= (p.Met1742=)
n.599G=
c.5109G= (p.Met1703=)
c.5262G= (p.Met1754=)
n.288G=
c.4878G= (p.Met1626=)
c.4560G=
c.3459G= (p.Met1153=)
c.2814G= (p.Met938=)
n.5560G=
c.5379G= (p.Met1793=)
c.5373G= (p.Met1791=)
c.3777G= (p.Met1259=)
n.5586G=
1g.102879731C>GCA341210829COL11A1c.5226G>C (p.Met1742Ile)
n.599G>C
c.5109G>C (p.Met1703Ile)
c.5262G>C (p.Met1754Ile)
n.288G>C
c.4878G>C (p.Met1626Ile)
c.4560G>C
c.3459G>C (p.Met1153Ile)
c.2814G>C (p.Met938Ile)
n.5560G>C
c.5379G>C (p.Met1793Ile)
c.5373G>C (p.Met1791Ile)
c.3777G>C (p.Met1259Ile)
n.5586G>C
1g.102879731C>TCA341210830COL11A1c.5226G>A (p.Met1742Ile)
n.599G>A
c.5109G>A (p.Met1703Ile)
c.5262G>A (p.Met1754Ile)
n.288G>A
c.4878G>A (p.Met1626Ile)
c.4560G>A
c.3459G>A (p.Met1153Ile)
c.2814G>A (p.Met938Ile)
n.5560G>A
c.5379G>A (p.Met1793Ile)
c.5373G>A (p.Met1791Ile)
c.3777G>A (p.Met1259Ile)
n.5586G>A
 dbSNP gnomAD v2 gnomAD v4
1g.102879732A>CCA341210831COL11A1c.5225T>G (p.Met1742Arg)
n.598T>G
c.5108T>G (p.Met1703Arg)
c.5261T>G (p.Met1754Arg)
n.287T>G
c.4877T>G (p.Met1626Arg)
c.4559T>G
c.3458T>G (p.Met1153Arg)
c.2813T>G (p.Met938Arg)
n.5559T>G
c.5378T>G (p.Met1793Arg)
c.5372T>G (p.Met1791Arg)
c.3776T>G (p.Met1259Arg)
n.5585T>G
1g.102879732A>GCA341210832COL11A1c.5225T>C (p.Met1742Thr)
n.598T>C
c.5108T>C (p.Met1703Thr)
c.5261T>C (p.Met1754Thr)
n.287T>C
c.4877T>C (p.Met1626Thr)
c.4559T>C
c.3458T>C (p.Met1153Thr)
c.2813T>C (p.Met938Thr)
n.5559T>C
c.5378T>C (p.Met1793Thr)
c.5372T>C (p.Met1791Thr)
c.3776T>C (p.Met1259Thr)
n.5585T>C
1g.102879732A>TCA341210833COL11A1c.5225T>A (p.Met1742Lys)
n.598T>A
c.5108T>A (p.Met1703Lys)
c.5261T>A (p.Met1754Lys)
n.287T>A
c.4877T>A (p.Met1626Lys)
c.4559T>A
c.3458T>A (p.Met1153Lys)
c.2813T>A (p.Met938Lys)
n.5559T>A
c.5378T>A (p.Met1793Lys)
c.5372T>A (p.Met1791Lys)
c.3776T>A (p.Met1259Lys)
n.5585T>A
1g.102879733T>ACA341210836COL11A1c.5224A>T (p.Met1742Leu)
n.597A>T
c.5107A>T (p.Met1703Leu)
c.5260A>T (p.Met1754Leu)
n.286A>T
c.4876A>T (p.Met1626Leu)
c.4558A>T
c.3457A>T (p.Met1153Leu)
c.2812A>T (p.Met938Leu)
n.5558A>T
c.5377A>T (p.Met1793Leu)
c.5371A>T (p.Met1791Leu)
c.3775A>T (p.Met1259Leu)
n.5584A>T
 gnomAD v4
1g.102879733T>CCA341210835COL11A1c.5224A>G (p.Met1742Val)
n.597A>G
c.5107A>G (p.Met1703Val)
c.5260A>G (p.Met1754Val)
n.286A>G
c.4876A>G (p.Met1626Val)
c.4558A>G
c.3457A>G (p.Met1153Val)
c.2812A>G (p.Met938Val)
n.5558A>G
c.5377A>G (p.Met1793Val)
c.5371A>G (p.Met1791Val)
c.3775A>G (p.Met1259Val)
n.5584A>G
1g.102879733T>GCA341210834COL11A1c.5224A>C (p.Met1742Leu)
n.597A>C
c.5107A>C (p.Met1703Leu)
c.5260A>C (p.Met1754Leu)
n.286A>C
c.4876A>C (p.Met1626Leu)
c.4558A>C
c.3457A>C (p.Met1153Leu)
c.2812A>C (p.Met938Leu)
n.5558A>C
c.5377A>C (p.Met1793Leu)
c.5371A>C (p.Met1791Leu)
c.3775A>C (p.Met1259Leu)
n.5584A>C
1g.102879733_102879736delinsTCTCCA1185228010COL11A1c.5221_5224delinsGAGA (p.Glu1741=)
n.594_597delinsGAGA
c.5104_5107delinsGAGA (p.Glu1702=)
c.5257_5260delinsGAGA (p.Glu1753=)
n.283_286delinsGAGA
c.4873_4876delinsGAGA (p.Glu1625=)
c.4555_4558delinsGAGA
c.3454_3457delinsGAGA (p.Glu1152=)
c.2809_2812delinsGAGA (p.Glu937=)
n.5555_5558delinsGAGA
c.5374_5377delinsGAGA (p.Glu1792=)
c.5368_5371delinsGAGA (p.Glu1790=)
c.3772_3775delinsGAGA (p.Glu1258=)
n.5581_5584delinsGAGA
1g.102879734C>ACA341210837COL11A1c.5223G>T (p.Glu1741Asp)
n.596G>T
c.5106G>T (p.Glu1702Asp)
c.5259G>T (p.Glu1753Asp)
n.285G>T
c.4875G>T (p.Glu1625Asp)
c.4557G>T
c.3456G>T (p.Glu1152Asp)
c.2811G>T (p.Glu937Asp)
n.5557G>T
c.5376G>T (p.Glu1792Asp)
c.5370G>T (p.Glu1790Asp)
c.3774G>T (p.Glu1258Asp)
n.5583G>T
1g.102879734C=CA1143739680COL11A1c.5223G= (p.Glu1741=)
n.596G=
c.5106G= (p.Glu1702=)
c.5259G= (p.Glu1753=)
n.285G=
c.4875G= (p.Glu1625=)
c.4557G=
c.3456G= (p.Glu1152=)
c.2811G= (p.Glu937=)
n.5557G=
c.5376G= (p.Glu1792=)
c.5370G= (p.Glu1790=)
c.3774G= (p.Glu1258=)
n.5583G=
1g.102879734C>GCA973288COL11A1c.5223G>C (p.Glu1741Asp)
n.596G>C
c.5106G>C (p.Glu1702Asp)
c.5259G>C (p.Glu1753Asp)
n.285G>C
c.4875G>C (p.Glu1625Asp)
c.4557G>C
c.3456G>C (p.Glu1152Asp)
c.2811G>C (p.Glu937Asp)
n.5557G>C
c.5376G>C (p.Glu1792Asp)
c.5370G>C (p.Glu1790Asp)
c.3774G>C (p.Glu1258Asp)
n.5583G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102879734C>TCA419253376COL11A1c.5223G>A (p.Glu1741=)
n.596G>A
c.5106G>A (p.Glu1702=)
c.5259G>A (p.Glu1753=)
n.285G>A
c.4875G>A (p.Glu1625=)
c.4557G>A
c.3456G>A (p.Glu1152=)
c.2811G>A (p.Glu937=)
n.5557G>A
c.5376G>A (p.Glu1792=)
c.5370G>A (p.Glu1790=)
c.3774G>A (p.Glu1258=)
n.5583G>A
 gnomAD v4
1g.102879737_102879739delCA28150831COL11A1c.5221_5223del (p.Glu1741del)
n.594_596del
c.5104_5106del (p.Glu1702del)
c.5257_5259del (p.Glu1753del)
n.283_285del
c.4873_4875del (p.Glu1625del)
c.4555_4557del
c.3454_3456del (p.Glu1152del)
c.2809_2811del (p.Glu937del)
n.5555_5557del
c.5374_5376del (p.Glu1792del)
c.5368_5370del (p.Glu1790del)
c.3772_3774del (p.Glu1258del)
n.5581_5583del
 dbSNP gnomAD v4
1g.102879735T>ACA341210838COL11A1c.5222A>T (p.Glu1741Val)
n.595A>T
c.5105A>T (p.Glu1702Val)
c.5258A>T (p.Glu1753Val)
n.284A>T
c.4874A>T (p.Glu1625Val)
c.4556A>T
c.3455A>T (p.Glu1152Val)
c.2810A>T (p.Glu937Val)
n.5556A>T
c.5375A>T (p.Glu1792Val)
c.5369A>T (p.Glu1790Val)
c.3773A>T (p.Glu1258Val)
n.5582A>T
 gnomAD v4
1g.102879735T>CCA341210839COL11A1c.5222A>G (p.Glu1741Gly)
n.595A>G
c.5105A>G (p.Glu1702Gly)
c.5258A>G (p.Glu1753Gly)
n.284A>G
c.4874A>G (p.Glu1625Gly)
c.4556A>G
c.3455A>G (p.Glu1152Gly)
c.2810A>G (p.Glu937Gly)
n.5556A>G
c.5375A>G (p.Glu1792Gly)
c.5369A>G (p.Glu1790Gly)
c.3773A>G (p.Glu1258Gly)
n.5582A>G
 dbSNP gnomAD v2
1g.102879735T>GCA973289COL11A1c.5222A>C (p.Glu1741Ala)
n.595A>C
c.5105A>C (p.Glu1702Ala)
c.5258A>C (p.Glu1753Ala)
n.284A>C
c.4874A>C (p.Glu1625Ala)
c.4556A>C
c.3455A>C (p.Glu1152Ala)
c.2810A>C (p.Glu937Ala)
n.5556A>C
c.5375A>C (p.Glu1792Ala)
c.5369A>C (p.Glu1790Ala)
c.3773A>C (p.Glu1258Ala)
n.5582A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102879735T=CA1185228011COL11A1c.5222A= (p.Glu1741=)
n.595A=
c.5105A= (p.Glu1702=)
c.5258A= (p.Glu1753=)
n.284A=
c.4874A= (p.Glu1625=)
c.4556A=
c.3455A= (p.Glu1152=)
c.2810A= (p.Glu937=)
n.5556A=
c.5375A= (p.Glu1792=)
c.5369A= (p.Glu1790=)
c.3773A= (p.Glu1258=)
n.5582A=
1g.102879736C>ACA341210842COL11A1c.5221G>T (p.Glu1741Ter)
n.594G>T
c.5104G>T (p.Glu1702Ter)
c.5257G>T (p.Glu1753Ter)
n.283G>T
c.4873G>T (p.Glu1625Ter)
c.4555G>T
c.3454G>T (p.Glu1152Ter)
c.2809G>T (p.Glu937Ter)
n.5555G>T
c.5374G>T (p.Glu1792Ter)
c.5368G>T (p.Glu1790Ter)
c.3772G>T (p.Glu1258Ter)
n.5581G>T
1g.102879736C=CA1185228012COL11A1c.5221G= (p.Glu1741=)
n.594G=
c.5104G= (p.Glu1702=)
c.5257G= (p.Glu1753=)
n.283G=
c.4873G= (p.Glu1625=)
c.4555G=
c.3454G= (p.Glu1152=)
c.2809G= (p.Glu937=)
n.5555G=
c.5374G= (p.Glu1792=)
c.5368G= (p.Glu1790=)
c.3772G= (p.Glu1258=)
n.5581G=
1g.102879736C>GCA341210840COL11A1c.5221G>C (p.Glu1741Gln)
n.594G>C
c.5104G>C (p.Glu1702Gln)
c.5257G>C (p.Glu1753Gln)
n.283G>C
c.4873G>C (p.Glu1625Gln)
c.4555G>C
c.3454G>C (p.Glu1152Gln)
c.2809G>C (p.Glu937Gln)
n.5555G>C
c.5374G>C (p.Glu1792Gln)
c.5368G>C (p.Glu1790Gln)
c.3772G>C (p.Glu1258Gln)
n.5581G>C
1g.102879736C>TCA341210841COL11A1c.5221G>A (p.Glu1741Lys)
n.594G>A
c.5104G>A (p.Glu1702Lys)
c.5257G>A (p.Glu1753Lys)
n.283G>A
c.4873G>A (p.Glu1625Lys)
c.4555G>A
c.3454G>A (p.Glu1152Lys)
c.2809G>A (p.Glu937Lys)
n.5555G>A
c.5374G>A (p.Glu1792Lys)
c.5368G>A (p.Glu1790Lys)
c.3772G>A (p.Glu1258Lys)
n.5581G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.102879737C>ACA341210843COL11A1c.5220G>T (p.Glu1740Asp)
n.593G>T
c.5103G>T (p.Glu1701Asp)
c.5256G>T (p.Glu1752Asp)
n.282G>T
c.4872G>T (p.Glu1624Asp)
c.4554G>T
c.3453G>T (p.Glu1151Asp)
c.2808G>T (p.Glu936Asp)
n.5554G>T
c.5373G>T (p.Glu1791Asp)
c.5367G>T (p.Glu1789Asp)
c.3771G>T (p.Glu1257Asp)
n.5580G>T
 dbSNP
1g.102879737C=CA1185228013COL11A1c.5220G= (p.Glu1740=)
n.593G=
c.5103G= (p.Glu1701=)
c.5256G= (p.Glu1752=)
n.282G=
c.4872G= (p.Glu1624=)
c.4554G=
c.3453G= (p.Glu1151=)
c.2808G= (p.Glu936=)
n.5554G=
c.5373G= (p.Glu1791=)
c.5367G= (p.Glu1789=)
c.3771G= (p.Glu1257=)
n.5580G=
1g.102879737C>GCA341210844COL11A1c.5220G>C (p.Glu1740Asp)
n.593G>C
c.5103G>C (p.Glu1701Asp)
c.5256G>C (p.Glu1752Asp)
n.282G>C
c.4872G>C (p.Glu1624Asp)
c.4554G>C
c.3453G>C (p.Glu1151Asp)
c.2808G>C (p.Glu936Asp)
n.5554G>C
c.5373G>C (p.Glu1791Asp)
c.5367G>C (p.Glu1789Asp)
c.3771G>C (p.Glu1257Asp)
n.5580G>C
 ClinVar dbSNP
1g.102879737C>TCA419253377COL11A1c.5220G>A (p.Glu1740=)
n.593G>A
c.5103G>A (p.Glu1701=)
c.5256G>A (p.Glu1752=)
n.282G>A
c.4872G>A (p.Glu1624=)
c.4554G>A
c.3453G>A (p.Glu1151=)
c.2808G>A (p.Glu936=)
n.5554G>A
c.5373G>A (p.Glu1791=)
c.5367G>A (p.Glu1789=)
c.3771G>A (p.Glu1257=)
n.5580G>A
 gnomAD v4
1g.102879738T>ACA341210845COL11A1c.5219A>T (p.Glu1740Val)
n.592A>T
c.5102A>T (p.Glu1701Val)
c.5255A>T (p.Glu1752Val)
n.281A>T
c.4871A>T (p.Glu1624Val)
c.4553A>T
c.3452A>T (p.Glu1151Val)
c.2807A>T (p.Glu936Val)
n.5553A>T
c.5372A>T (p.Glu1791Val)
c.5366A>T (p.Glu1789Val)
c.3770A>T (p.Glu1257Val)
n.5579A>T
1g.102879738T>CCA341210846COL11A1c.5219A>G (p.Glu1740Gly)
n.592A>G
c.5102A>G (p.Glu1701Gly)
c.5255A>G (p.Glu1752Gly)
n.281A>G
c.4871A>G (p.Glu1624Gly)
c.4553A>G
c.3452A>G (p.Glu1151Gly)
c.2807A>G (p.Glu936Gly)
n.5553A>G
c.5372A>G (p.Glu1791Gly)
c.5366A>G (p.Glu1789Gly)
c.3770A>G (p.Glu1257Gly)
n.5579A>G
1g.102879738T>GCA341210847COL11A1c.5219A>C (p.Glu1740Ala)
n.592A>C
c.5102A>C (p.Glu1701Ala)
c.5255A>C (p.Glu1752Ala)
n.281A>C
c.4871A>C (p.Glu1624Ala)
c.4553A>C
c.3452A>C (p.Glu1151Ala)
c.2807A>C (p.Glu936Ala)
n.5553A>C
c.5372A>C (p.Glu1791Ala)
c.5366A>C (p.Glu1789Ala)
c.3770A>C (p.Glu1257Ala)
n.5579A>C
1g.102879742_102879744delCA2646799549COL11A1c.5217_5219del (p.Asp1739del)
n.590_592del
c.5100_5102del (p.Asp1700del)
c.5253_5255del (p.Asp1751del)
n.279_281del
c.4869_4871del (p.Asp1623del)
c.4551_4553del
c.3450_3452del (p.Asp1150del)
c.2805_2807del (p.Asp935del)
n.5551_5553del
c.5370_5372del (p.Asp1790del)
c.5364_5366del (p.Asp1788del)
c.3768_3770del (p.Asp1256del)
n.5577_5579del
 gnomAD v4
1g.102879739C>ACA341210848COL11A1c.5218G>T (p.Glu1740Ter)
n.591G>T
c.5101G>T (p.Glu1701Ter)
c.5254G>T (p.Glu1752Ter)
n.280G>T
c.4870G>T (p.Glu1624Ter)
c.4552G>T
c.3451G>T (p.Glu1151Ter)
c.2806G>T (p.Glu936Ter)
n.5552G>T
c.5371G>T (p.Glu1791Ter)
c.5365G>T (p.Glu1789Ter)
c.3769G>T (p.Glu1257Ter)
n.5578G>T
 COSMIC COSMIC
1g.102879739C=CA1185228014COL11A1c.5218G= (p.Glu1740=)
n.591G=
c.5101G= (p.Glu1701=)
c.5254G= (p.Glu1752=)
n.280G=
c.4870G= (p.Glu1624=)
c.4552G=
c.3451G= (p.Glu1151=)
c.2806G= (p.Glu936=)
n.5552G=
c.5371G= (p.Glu1791=)
c.5365G= (p.Glu1789=)
c.3769G= (p.Glu1257=)
n.5578G=
1g.102879739C>GCA341210850COL11A1c.5218G>C (p.Glu1740Gln)
n.591G>C
c.5101G>C (p.Glu1701Gln)
c.5254G>C (p.Glu1752Gln)
n.280G>C
c.4870G>C (p.Glu1624Gln)
c.4552G>C
c.3451G>C (p.Glu1151Gln)
c.2806G>C (p.Glu936Gln)
n.5552G>C
c.5371G>C (p.Glu1791Gln)
c.5365G>C (p.Glu1789Gln)
c.3769G>C (p.Glu1257Gln)
n.5578G>C
 ClinVar dbSNP COSMIC COSMIC
1g.102879739C>TCA341210849COL11A1c.5218G>A (p.Glu1740Lys)
n.591G>A
c.5101G>A (p.Glu1701Lys)
c.5254G>A (p.Glu1752Lys)
n.280G>A
c.4870G>A (p.Glu1624Lys)
c.4552G>A
c.3451G>A (p.Glu1151Lys)
c.2806G>A (p.Glu936Lys)
n.5552G>A
c.5371G>A (p.Glu1791Lys)
c.5365G>A (p.Glu1789Lys)
c.3769G>A (p.Glu1257Lys)
n.5578G>A
 gnomAD v4
1g.102879740A>CCA341210851COL11A1c.5217T>G (p.Asp1739Glu)
n.590T>G
c.5100T>G (p.Asp1700Glu)
c.5253T>G (p.Asp1751Glu)
n.279T>G
c.4869T>G (p.Asp1623Glu)
c.4551T>G
c.3450T>G (p.Asp1150Glu)
c.2805T>G (p.Asp935Glu)
n.5551T>G
c.5370T>G (p.Asp1790Glu)
c.5364T>G (p.Asp1788Glu)
c.3768T>G (p.Asp1256Glu)
n.5577T>G
1g.102879740A>GCA419253378COL11A1c.5217T>C (p.Asp1739=)
n.590T>C
c.5100T>C (p.Asp1700=)
c.5253T>C (p.Asp1751=)
n.279T>C
c.4869T>C (p.Asp1623=)
c.4551T>C
c.3450T>C (p.Asp1150=)
c.2805T>C (p.Asp935=)
n.5551T>C
c.5370T>C (p.Asp1790=)
c.5364T>C (p.Asp1788=)
c.3768T>C (p.Asp1256=)
n.5577T>C
1g.102879740A>TCA341210852COL11A1c.5217T>A (p.Asp1739Glu)
n.590T>A
c.5100T>A (p.Asp1700Glu)
c.5253T>A (p.Asp1751Glu)
n.279T>A
c.4869T>A (p.Asp1623Glu)
c.4551T>A
c.3450T>A (p.Asp1150Glu)
c.2805T>A (p.Asp935Glu)
n.5551T>A
c.5370T>A (p.Asp1790Glu)
c.5364T>A (p.Asp1788Glu)
c.3768T>A (p.Asp1256Glu)
n.5577T>A
1g.102879741T>ACA341210853COL11A1c.5216A>T (p.Asp1739Val)
n.589A>T
c.5099A>T (p.Asp1700Val)
c.5252A>T (p.Asp1751Val)
n.278A>T
c.4868A>T (p.Asp1623Val)
c.4550A>T
c.3449A>T (p.Asp1150Val)
c.2804A>T (p.Asp935Val)
n.5550A>T
c.5369A>T (p.Asp1790Val)
c.5363A>T (p.Asp1788Val)
c.3767A>T (p.Asp1256Val)
n.5576A>T
1g.102879741T>CCA341210854COL11A1c.5216A>G (p.Asp1739Gly)
n.589A>G
c.5099A>G (p.Asp1700Gly)
c.5252A>G (p.Asp1751Gly)
n.278A>G
c.4868A>G (p.Asp1623Gly)
c.4550A>G
c.3449A>G (p.Asp1150Gly)
c.2804A>G (p.Asp935Gly)
n.5550A>G
c.5369A>G (p.Asp1790Gly)
c.5363A>G (p.Asp1788Gly)
c.3767A>G (p.Asp1256Gly)
n.5576A>G
1g.102879741T>GCA341210855COL11A1c.5216A>C (p.Asp1739Ala)
n.589A>C
c.5099A>C (p.Asp1700Ala)
c.5252A>C (p.Asp1751Ala)
n.278A>C
c.4868A>C (p.Asp1623Ala)
c.4550A>C
c.3449A>C (p.Asp1150Ala)
c.2804A>C (p.Asp935Ala)
n.5550A>C
c.5369A>C (p.Asp1790Ala)
c.5363A>C (p.Asp1788Ala)
c.3767A>C (p.Asp1256Ala)
n.5576A>C
1g.102879742C>ACA341210856COL11A1c.5215G>T (p.Asp1739Tyr)
n.588G>T
c.5098G>T (p.Asp1700Tyr)
c.5251G>T (p.Asp1751Tyr)
n.277G>T
c.4867G>T (p.Asp1623Tyr)
c.4549G>T
c.3448G>T (p.Asp1150Tyr)
c.2803G>T (p.Asp935Tyr)
n.5549G>T
c.5368G>T (p.Asp1790Tyr)
c.5362G>T (p.Asp1788Tyr)
c.3766G>T (p.Asp1256Tyr)
n.5575G>T
1g.102879742C>GCA341210857COL11A1c.5215G>C (p.Asp1739His)
n.588G>C
c.5098G>C (p.Asp1700His)
c.5251G>C (p.Asp1751His)
n.277G>C
c.4867G>C (p.Asp1623His)
c.4549G>C
c.3448G>C (p.Asp1150His)
c.2803G>C (p.Asp935His)
n.5549G>C
c.5368G>C (p.Asp1790His)
c.5362G>C (p.Asp1788His)
c.3766G>C (p.Asp1256His)
n.5575G>C
1g.102879742C>TCA341210858COL11A1c.5215G>A (p.Asp1739Asn)
n.588G>A
c.5098G>A (p.Asp1700Asn)
c.5251G>A (p.Asp1751Asn)
n.277G>A
c.4867G>A (p.Asp1623Asn)
c.4549G>A
c.3448G>A (p.Asp1150Asn)
c.2803G>A (p.Asp935Asn)
n.5549G>A
c.5368G>A (p.Asp1790Asn)
c.5362G>A (p.Asp1788Asn)
c.3766G>A (p.Asp1256Asn)
n.5575G>A
1g.102879743A>CCA341210859COL11A1c.5214T>G (p.Asn1738Lys)
n.587T>G
c.5097T>G (p.Asn1699Lys)
c.5250T>G (p.Asn1750Lys)
n.276T>G
c.4866T>G (p.Asn1622Lys)
c.4548T>G
c.3447T>G (p.Asn1149Lys)
c.2802T>G (p.Asn934Lys)
n.5548T>G
c.5367T>G (p.Asn1789Lys)
c.5361T>G (p.Asn1787Lys)
c.3765T>G (p.Asn1255Lys)
n.5574T>G
1g.102879743A>GCA419253379COL11A1c.5214T>C (p.Asn1738=)
n.587T>C
c.5097T>C (p.Asn1699=)
c.5250T>C (p.Asn1750=)
n.276T>C
c.4866T>C (p.Asn1622=)
c.4548T>C
c.3447T>C (p.Asn1149=)
c.2802T>C (p.Asn934=)
n.5548T>C
c.5367T>C (p.Asn1789=)
c.5361T>C (p.Asn1787=)
c.3765T>C (p.Asn1255=)
n.5574T>C
1g.102879743A>TCA341210860COL11A1c.5214T>A (p.Asn1738Lys)
n.587T>A
c.5097T>A (p.Asn1699Lys)
c.5250T>A (p.Asn1750Lys)
n.276T>A
c.4866T>A (p.Asn1622Lys)
c.4548T>A
c.3447T>A (p.Asn1149Lys)
c.2802T>A (p.Asn934Lys)
n.5548T>A
c.5367T>A (p.Asn1789Lys)
c.5361T>A (p.Asn1787Lys)
c.3765T>A (p.Asn1255Lys)
n.5574T>A
1g.102879744T>ACA341210863COL11A1c.5213A>T (p.Asn1738Ile)
n.586A>T
c.5096A>T (p.Asn1699Ile)
c.5249A>T (p.Asn1750Ile)
n.275A>T
c.4865A>T (p.Asn1622Ile)
c.4547A>T
c.3446A>T (p.Asn1149Ile)
c.2801A>T (p.Asn934Ile)
n.5547A>T
c.5366A>T (p.Asn1789Ile)
c.5360A>T (p.Asn1787Ile)
c.3764A>T (p.Asn1255Ile)
n.5573A>T
1g.102879744T>CCA341210862COL11A1c.5213A>G (p.Asn1738Ser)
n.586A>G
c.5096A>G (p.Asn1699Ser)
c.5249A>G (p.Asn1750Ser)
n.275A>G
c.4865A>G (p.Asn1622Ser)
c.4547A>G
c.3446A>G (p.Asn1149Ser)
c.2801A>G (p.Asn934Ser)
n.5547A>G
c.5366A>G (p.Asn1789Ser)
c.5360A>G (p.Asn1787Ser)
c.3764A>G (p.Asn1255Ser)
n.5573A>G
1g.102879744T>GCA341210861COL11A1c.5213A>C (p.Asn1738Thr)
n.586A>C
c.5096A>C (p.Asn1699Thr)
c.5249A>C (p.Asn1750Thr)
n.275A>C
c.4865A>C (p.Asn1622Thr)
c.4547A>C
c.3446A>C (p.Asn1149Thr)
c.2801A>C (p.Asn934Thr)
n.5547A>C
c.5366A>C (p.Asn1789Thr)
c.5360A>C (p.Asn1787Thr)
c.3764A>C (p.Asn1255Thr)
n.5573A>C
1g.102879745T>ACA341210864COL11A1c.5212A>T (p.Asn1738Tyr)
n.585A>T
c.5095A>T (p.Asn1699Tyr)
c.5248A>T (p.Asn1750Tyr)
n.274A>T
c.4864A>T (p.Asn1622Tyr)
c.4546A>T
c.3445A>T (p.Asn1149Tyr)
c.2800A>T (p.Asn934Tyr)
n.5546A>T
c.5365A>T (p.Asn1789Tyr)
c.5359A>T (p.Asn1787Tyr)
c.3763A>T (p.Asn1255Tyr)
n.5572A>T
1g.102879745T>CCA341210866COL11A1c.5212A>G (p.Asn1738Asp)
n.585A>G
c.5095A>G (p.Asn1699Asp)
c.5248A>G (p.Asn1750Asp)
n.274A>G
c.4864A>G (p.Asn1622Asp)
c.4546A>G
c.3445A>G (p.Asn1149Asp)
c.2800A>G (p.Asn934Asp)
n.5546A>G
c.5365A>G (p.Asn1789Asp)
c.5359A>G (p.Asn1787Asp)
c.3763A>G (p.Asn1255Asp)
n.5572A>G
1g.102879745T>GCA341210865COL11A1c.5212A>C (p.Asn1738His)
n.585A>C
c.5095A>C (p.Asn1699His)
c.5248A>C (p.Asn1750His)
n.274A>C
c.4864A>C (p.Asn1622His)
c.4546A>C
c.3445A>C (p.Asn1149His)
c.2800A>C (p.Asn934His)
n.5546A>C
c.5365A>C (p.Asn1789His)
c.5359A>C (p.Asn1787His)
c.3763A>C (p.Asn1255His)
n.5572A>C
1g.102879746T>ACA419253393COL11A1c.5211A>T (p.Ser1737=)
n.584A>T
c.5094A>T (p.Ser1698=)
c.5247A>T (p.Ser1749=)
n.273A>T
c.4863A>T (p.Ser1621=)
c.4545A>T
c.3444A>T (p.Ser1148=)
c.2799A>T (p.Ser933=)
n.5545A>T
c.5364A>T (p.Ser1788=)
c.5358A>T (p.Ser1786=)
c.3762A>T (p.Ser1254=)
n.5571A>T
1g.102879746T>CCA419253394COL11A1c.5211A>G (p.Ser1737=)
n.584A>G
c.5094A>G (p.Ser1698=)
c.5247A>G (p.Ser1749=)
n.273A>G
c.4863A>G (p.Ser1621=)
c.4545A>G
c.3444A>G (p.Ser1148=)
c.2799A>G (p.Ser933=)
n.5545A>G
c.5364A>G (p.Ser1788=)
c.5358A>G (p.Ser1786=)
c.3762A>G (p.Ser1254=)
n.5571A>G
1g.102879746T>GCA419253395COL11A1c.5211A>C (p.Ser1737=)
n.584A>C
c.5094A>C (p.Ser1698=)
c.5247A>C (p.Ser1749=)
n.273A>C
c.4863A>C (p.Ser1621=)
c.4545A>C
c.3444A>C (p.Ser1148=)
c.2799A>C (p.Ser933=)
n.5545A>C
c.5364A>C (p.Ser1788=)
c.5358A>C (p.Ser1786=)
c.3762A>C (p.Ser1254=)
n.5571A>C
 dbSNP
1g.102879747G>ACA341210867COL11A1c.5210C>T (p.Ser1737Leu)
n.583C>T
c.5093C>T (p.Ser1698Leu)
c.5246C>T (p.Ser1749Leu)
n.272C>T
c.4862C>T (p.Ser1621Leu)
c.4544C>T
c.3443C>T (p.Ser1148Leu)
c.2798C>T (p.Ser933Leu)
n.5544C>T
c.5363C>T (p.Ser1788Leu)
c.5357C>T (p.Ser1786Leu)
c.3761C>T (p.Ser1254Leu)
n.5570C>T
1g.102879747G>CCA341210868COL11A1c.5210C>G (p.Ser1737Ter)
n.583C>G
c.5093C>G (p.Ser1698Ter)
c.5246C>G (p.Ser1749Ter)
n.272C>G
c.4862C>G (p.Ser1621Ter)
c.4544C>G
c.3443C>G (p.Ser1148Ter)
c.2798C>G (p.Ser933Ter)
n.5544C>G
c.5363C>G (p.Ser1788Ter)
c.5357C>G (p.Ser1786Ter)
c.3761C>G (p.Ser1254Ter)
n.5570C>G
 dbSNP
1g.102879747G=CA1185228015COL11A1c.5210C= (p.Ser1737=)
n.583C=
c.5093C= (p.Ser1698=)
c.5246C= (p.Ser1749=)
n.272C=
c.4862C= (p.Ser1621=)
c.4544C=
c.3443C= (p.Ser1148=)
c.2798C= (p.Ser933=)
n.5544C=
c.5363C= (p.Ser1788=)
c.5357C= (p.Ser1786=)
c.3761C= (p.Ser1254=)
n.5570C=
1g.102879747G>TCA341210869COL11A1c.5210C>A (p.Ser1737Ter)
n.583C>A
c.5093C>A (p.Ser1698Ter)
c.5246C>A (p.Ser1749Ter)
n.272C>A
c.4862C>A (p.Ser1621Ter)
c.4544C>A
c.3443C>A (p.Ser1148Ter)
c.2798C>A (p.Ser933Ter)
n.5544C>A
c.5363C>A (p.Ser1788Ter)
c.5357C>A (p.Ser1786Ter)
c.3761C>A (p.Ser1254Ter)
n.5570C>A
1g.102879748A>CCA341210870COL11A1c.5209T>G (p.Ser1737Ala)
n.582T>G
c.5092T>G (p.Ser1698Ala)
c.5245T>G (p.Ser1749Ala)
n.271T>G
c.4861T>G (p.Ser1621Ala)
c.4543T>G
c.3442T>G (p.Ser1148Ala)
c.2797T>G (p.Ser933Ala)
n.5543T>G
c.5362T>G (p.Ser1788Ala)
c.5356T>G (p.Ser1786Ala)
c.3760T>G (p.Ser1254Ala)
n.5569T>G
 gnomAD v4 COSMIC COSMIC
1g.102879748A>GCA341210871COL11A1c.5209T>C (p.Ser1737Pro)
n.582T>C
c.5092T>C (p.Ser1698Pro)
c.5245T>C (p.Ser1749Pro)
n.271T>C
c.4861T>C (p.Ser1621Pro)
c.4543T>C
c.3442T>C (p.Ser1148Pro)
c.2797T>C (p.Ser933Pro)
n.5543T>C
c.5362T>C (p.Ser1788Pro)
c.5356T>C (p.Ser1786Pro)
c.3760T>C (p.Ser1254Pro)
n.5569T>C
1g.102879748A>TCA341210872COL11A1c.5209T>A (p.Ser1737Thr)
n.582T>A
c.5092T>A (p.Ser1698Thr)
c.5245T>A (p.Ser1749Thr)
n.271T>A
c.4861T>A (p.Ser1621Thr)
c.4543T>A
c.3442T>A (p.Ser1148Thr)
c.2797T>A (p.Ser933Thr)
n.5543T>A
c.5362T>A (p.Ser1788Thr)
c.5356T>A (p.Ser1786Thr)
c.3760T>A (p.Ser1254Thr)
n.5569T>A
1g.102879749T>ACA419253398COL11A1c.5208A>T (p.Gly1736=)
n.581A>T
c.5091A>T (p.Gly1697=)
c.5244A>T (p.Gly1748=)
n.270A>T
c.4860A>T (p.Gly1620=)
c.4542A>T
c.3441A>T (p.Gly1147=)
c.2796A>T (p.Gly932=)
n.5542A>T
c.5361A>T (p.Gly1787=)
c.5355A>T (p.Gly1785=)
c.3759A>T (p.Gly1253=)
n.5568A>T
1g.102879749T>CCA419253399COL11A1c.5208A>G (p.Gly1736=)
n.581A>G
c.5091A>G (p.Gly1697=)
c.5244A>G (p.Gly1748=)
n.270A>G
c.4860A>G (p.Gly1620=)
c.4542A>G
c.3441A>G (p.Gly1147=)
c.2796A>G (p.Gly932=)
n.5542A>G
c.5361A>G (p.Gly1787=)
c.5355A>G (p.Gly1785=)
c.3759A>G (p.Gly1253=)
n.5568A>G
1g.102879749T>GCA419253400COL11A1c.5208A>C (p.Gly1736=)
n.581A>C
c.5091A>C (p.Gly1697=)
c.5244A>C (p.Gly1748=)
n.270A>C
c.4860A>C (p.Gly1620=)
c.4542A>C
c.3441A>C (p.Gly1147=)
c.2796A>C (p.Gly932=)
n.5542A>C
c.5361A>C (p.Gly1787=)
c.5355A>C (p.Gly1785=)
c.3759A>C (p.Gly1253=)
n.5568A>C
1g.102879750C>ACA341210873COL11A1c.5207G>T (p.Gly1736Val)
n.580G>T
c.5090G>T (p.Gly1697Val)
c.5243G>T (p.Gly1748Val)
n.269G>T
c.4859G>T (p.Gly1620Val)
c.4541G>T
c.3440G>T (p.Gly1147Val)
c.2795G>T (p.Gly932Val)
n.5541G>T
c.5360G>T (p.Gly1787Val)
c.5354G>T (p.Gly1785Val)
c.3758G>T (p.Gly1253Val)
n.5567G>T
 COSMIC COSMIC
1g.102879750C=CA1185228016COL11A1c.5207G= (p.Gly1736=)
n.580G=
c.5090G= (p.Gly1697=)
c.5243G= (p.Gly1748=)
n.269G=
c.4859G= (p.Gly1620=)
c.4541G=
c.3440G= (p.Gly1147=)
c.2795G= (p.Gly932=)
n.5541G=
c.5360G= (p.Gly1787=)
c.5354G= (p.Gly1785=)
c.3758G= (p.Gly1253=)
n.5567G=
1g.102879750C>GCA341210874COL11A1c.5207G>C (p.Gly1736Ala)
n.580G>C
c.5090G>C (p.Gly1697Ala)
c.5243G>C (p.Gly1748Ala)
n.269G>C
c.4859G>C (p.Gly1620Ala)
c.4541G>C
c.3440G>C (p.Gly1147Ala)
c.2795G>C (p.Gly932Ala)
n.5541G>C
c.5360G>C (p.Gly1787Ala)
c.5354G>C (p.Gly1785Ala)
c.3758G>C (p.Gly1253Ala)
n.5567G>C
1g.102879750C>TCA28150832COL11A1c.5207G>A (p.Gly1736Glu)
n.580G>A
c.5090G>A (p.Gly1697Glu)
c.5243G>A (p.Gly1748Glu)
n.269G>A
c.4859G>A (p.Gly1620Glu)
c.4541G>A
c.3440G>A (p.Gly1147Glu)
c.2795G>A (p.Gly932Glu)
n.5541G>A
c.5360G>A (p.Gly1787Glu)
c.5354G>A (p.Gly1785Glu)
c.3758G>A (p.Gly1253Glu)
n.5567G>A
 dbSNP
1g.102879751C>ACA341210875COL11A1c.5206G>T (p.Gly1736Ter)
n.579G>T
c.5089G>T (p.Gly1697Ter)
c.5242G>T (p.Gly1748Ter)
n.268G>T
c.4858G>T (p.Gly1620Ter)
c.4540G>T
c.3439G>T (p.Gly1147Ter)
c.2794G>T (p.Gly932Ter)
n.5540G>T
c.5359G>T (p.Gly1787Ter)
c.5353G>T (p.Gly1785Ter)
c.3757G>T (p.Gly1253Ter)
n.5566G>T
 COSMIC
1g.102879751C>GCA341210876COL11A1c.5206G>C (p.Gly1736Arg)
n.579G>C
c.5089G>C (p.Gly1697Arg)
c.5242G>C (p.Gly1748Arg)
n.268G>C
c.4858G>C (p.Gly1620Arg)
c.4540G>C
c.3439G>C (p.Gly1147Arg)
c.2794G>C (p.Gly932Arg)
n.5540G>C
c.5359G>C (p.Gly1787Arg)
c.5353G>C (p.Gly1785Arg)
c.3757G>C (p.Gly1253Arg)
n.5566G>C
1g.102879751C>TCA341210877COL11A1c.5206G>A (p.Gly1736Arg)
n.579G>A
c.5089G>A (p.Gly1697Arg)
c.5242G>A (p.Gly1748Arg)
n.268G>A
c.4858G>A (p.Gly1620Arg)
c.4540G>A
c.3439G>A (p.Gly1147Arg)
c.2794G>A (p.Gly932Arg)
n.5540G>A
c.5359G>A (p.Gly1787Arg)
c.5353G>A (p.Gly1785Arg)
c.3757G>A (p.Gly1253Arg)
n.5566G>A
1g.102879752C>ACA419253406COL11A1c.5205G>T (p.Leu1735=)
n.578G>T
c.5088G>T (p.Leu1696=)
c.5241G>T (p.Leu1747=)
n.267G>T
c.4857G>T (p.Leu1619=)
c.4539G>T
c.3438G>T (p.Leu1146=)
c.2793G>T (p.Leu931=)
n.5539G>T
c.5358G>T (p.Leu1786=)
c.5352G>T (p.Leu1784=)
c.3756G>T (p.Leu1252=)
n.5565G>T
1g.102879752C>GCA419253405COL11A1c.5205G>C (p.Leu1735=)
n.578G>C
c.5088G>C (p.Leu1696=)
c.5241G>C (p.Leu1747=)
n.267G>C
c.4857G>C (p.Leu1619=)
c.4539G>C
c.3438G>C (p.Leu1146=)
c.2793G>C (p.Leu931=)
n.5539G>C
c.5358G>C (p.Leu1786=)
c.5352G>C (p.Leu1784=)
c.3756G>C (p.Leu1252=)
n.5565G>C
1g.102879752C>TCA419253404COL11A1c.5205G>A (p.Leu1735=)
n.578G>A
c.5088G>A (p.Leu1696=)
c.5241G>A (p.Leu1747=)
n.267G>A
c.4857G>A (p.Leu1619=)
c.4539G>A
c.3438G>A (p.Leu1146=)
c.2793G>A (p.Leu931=)
n.5539G>A
c.5358G>A (p.Leu1786=)
c.5352G>A (p.Leu1784=)
c.3756G>A (p.Leu1252=)
n.5565G>A
 gnomAD v4
1g.102879753A=CA1185228017COL11A1c.5204T= (p.Leu1735=)
n.577T=
c.5087T= (p.Leu1696=)
c.5240T= (p.Leu1747=)
n.266T=
c.4856T= (p.Leu1619=)
c.4538T=
c.3437T= (p.Leu1146=)
c.2792T= (p.Leu931=)
n.5538T=
c.5357T= (p.Leu1786=)
c.5351T= (p.Leu1784=)
c.3755T= (p.Leu1252=)
n.5564T=
1g.102879753A>CCA341210880COL11A1c.5204T>G (p.Leu1735Arg)
n.577T>G
c.5087T>G (p.Leu1696Arg)
c.5240T>G (p.Leu1747Arg)
n.266T>G
c.4856T>G (p.Leu1619Arg)
c.4538T>G
c.3437T>G (p.Leu1146Arg)
c.2792T>G (p.Leu931Arg)
n.5538T>G
c.5357T>G (p.Leu1786Arg)
c.5351T>G (p.Leu1784Arg)
c.3755T>G (p.Leu1252Arg)
n.5564T>G
1g.102879753A>GCA341210878COL11A1c.5204T>C (p.Leu1735Pro)
n.577T>C
c.5087T>C (p.Leu1696Pro)
c.5240T>C (p.Leu1747Pro)
n.266T>C
c.4856T>C (p.Leu1619Pro)
c.4538T>C
c.3437T>C (p.Leu1146Pro)
c.2792T>C (p.Leu931Pro)
n.5538T>C
c.5357T>C (p.Leu1786Pro)
c.5351T>C (p.Leu1784Pro)
c.3755T>C (p.Leu1252Pro)
n.5564T>C
1g.102879753A>TCA341210879COL11A1c.5204T>A (p.Leu1735Gln)
n.577T>A
c.5087T>A (p.Leu1696Gln)
c.5240T>A (p.Leu1747Gln)
n.266T>A
c.4856T>A (p.Leu1619Gln)
c.4538T>A
c.3437T>A (p.Leu1146Gln)
c.2792T>A (p.Leu931Gln)
n.5538T>A
c.5357T>A (p.Leu1786Gln)
c.5351T>A (p.Leu1784Gln)
c.3755T>A (p.Leu1252Gln)
n.5564T>A
1g.102879754G>ACA419253407COL11A1c.5203C>T (p.Leu1735=)
n.576C>T
c.5086C>T (p.Leu1696=)
c.5239C>T (p.Leu1747=)
n.265C>T
c.4855C>T (p.Leu1619=)
c.4537C>T
c.3436C>T (p.Leu1146=)
c.2791C>T (p.Leu931=)
n.5537C>T
c.5356C>T (p.Leu1786=)
c.5350C>T (p.Leu1784=)
c.3754C>T (p.Leu1252=)
n.5563C>T
 dbSNP
1g.102879754G>CCA341210881COL11A1c.5203C>G (p.Leu1735Val)
n.576C>G
c.5086C>G (p.Leu1696Val)
c.5239C>G (p.Leu1747Val)
n.265C>G
c.4855C>G (p.Leu1619Val)
c.4537C>G
c.3436C>G (p.Leu1146Val)
c.2791C>G (p.Leu931Val)
n.5537C>G
c.5356C>G (p.Leu1786Val)
c.5350C>G (p.Leu1784Val)
c.3754C>G (p.Leu1252Val)
n.5563C>G
1g.102879754G=CA1185228018COL11A1c.5203C= (p.Leu1735=)
n.576C=
c.5086C= (p.Leu1696=)
c.5239C= (p.Leu1747=)
n.265C=
c.4855C= (p.Leu1619=)
c.4537C=
c.3436C= (p.Leu1146=)
c.2791C= (p.Leu931=)
n.5537C=
c.5356C= (p.Leu1786=)
c.5350C= (p.Leu1784=)
c.3754C= (p.Leu1252=)
n.5563C=
1g.102879754G>TCA341210882COL11A1c.5203C>A (p.Leu1735Met)
n.576C>A
c.5086C>A (p.Leu1696Met)
c.5239C>A (p.Leu1747Met)
n.265C>A
c.4855C>A (p.Leu1619Met)
c.4537C>A
c.3436C>A (p.Leu1146Met)
c.2791C>A (p.Leu931Met)
n.5537C>A
c.5356C>A (p.Leu1786Met)
c.5350C>A (p.Leu1784Met)
c.3754C>A (p.Leu1252Met)
n.5563C>A
1g.102879755dupCA525178986COL11A1c.5203dup (p.Leu1735ProfsTer5)
n.576dup
c.5086dup (p.Leu1696ProfsTer5)
c.5239dup (p.Leu1747ProfsTer5)
n.265dup
c.4855dup (p.Leu1619ProfsTer5)
c.4537dup
c.3436dup (p.Leu1146ProfsTer5)
c.2791dup (p.Leu931ProfsTer5)
n.5537dup
c.5356dup (p.Leu1786ProfsTer5)
c.5350dup (p.Leu1784ProfsTer5)
c.3754dup (p.Leu1252ProfsTer5)
n.5563dup
 dbSNP gnomAD v2 gnomAD v4
1g.102879755G>ACA419253408COL11A1c.5202C>T (p.Phe1734=)
n.575C>T
c.5085C>T (p.Phe1695=)
c.5238C>T (p.Phe1746=)
n.264C>T
c.4854C>T (p.Phe1618=)
c.4536C>T
c.3435C>T (p.Phe1145=)
c.2790C>T (p.Phe930=)
n.5536C>T
c.5355C>T (p.Phe1785=)
c.5349C>T (p.Phe1783=)
c.3753C>T (p.Phe1251=)
n.5562C>T
 COSMIC COSMIC
1g.102879755G>CCA341210883COL11A1c.5202C>G (p.Phe1734Leu)
n.575C>G
c.5085C>G (p.Phe1695Leu)
c.5238C>G (p.Phe1746Leu)
n.264C>G
c.4854C>G (p.Phe1618Leu)
c.4536C>G
c.3435C>G (p.Phe1145Leu)
c.2790C>G (p.Phe930Leu)
n.5536C>G
c.5355C>G (p.Phe1785Leu)
c.5349C>G (p.Phe1783Leu)
c.3753C>G (p.Phe1251Leu)
n.5562C>G
1g.102879755G>TCA341210884COL11A1c.5202C>A (p.Phe1734Leu)
n.575C>A
c.5085C>A (p.Phe1695Leu)
c.5238C>A (p.Phe1746Leu)
n.264C>A
c.4854C>A (p.Phe1618Leu)
c.4536C>A
c.3435C>A (p.Phe1145Leu)
c.2790C>A (p.Phe930Leu)
n.5536C>A
c.5355C>A (p.Phe1785Leu)
c.5349C>A (p.Phe1783Leu)
c.3753C>A (p.Phe1251Leu)
n.5562C>A
1g.102879756A>CCA341210885COL11A1c.5201T>G (p.Phe1734Cys)
n.574T>G
c.5084T>G (p.Phe1695Cys)
c.5237T>G (p.Phe1746Cys)
n.263T>G
c.4853T>G (p.Phe1618Cys)
c.4535T>G
c.3434T>G (p.Phe1145Cys)
c.2789T>G (p.Phe930Cys)
n.5535T>G
c.5354T>G (p.Phe1785Cys)
c.5348T>G (p.Phe1783Cys)
c.3752T>G (p.Phe1251Cys)
n.5561T>G
1g.102879756A>GCA341210886COL11A1c.5201T>C (p.Phe1734Ser)
n.574T>C
c.5084T>C (p.Phe1695Ser)
c.5237T>C (p.Phe1746Ser)
n.263T>C
c.4853T>C (p.Phe1618Ser)
c.4535T>C
c.3434T>C (p.Phe1145Ser)
c.2789T>C (p.Phe930Ser)
n.5535T>C
c.5354T>C (p.Phe1785Ser)
c.5348T>C (p.Phe1783Ser)
c.3752T>C (p.Phe1251Ser)
n.5561T>C
1g.102879756A>TCA341210887COL11A1c.5201T>A (p.Phe1734Tyr)
n.574T>A
c.5084T>A (p.Phe1695Tyr)
c.5237T>A (p.Phe1746Tyr)
n.263T>A
c.4853T>A (p.Phe1618Tyr)
c.4535T>A
c.3434T>A (p.Phe1145Tyr)
c.2789T>A (p.Phe930Tyr)
n.5535T>A
c.5354T>A (p.Phe1785Tyr)
c.5348T>A (p.Phe1783Tyr)
c.3752T>A (p.Phe1251Tyr)
n.5561T>A
1g.102879757A>CCA341210888COL11A1c.5200T>G (p.Phe1734Val)
n.573T>G
c.5083T>G (p.Phe1695Val)
c.5236T>G (p.Phe1746Val)
n.262T>G
c.4852T>G (p.Phe1618Val)
c.4534T>G
c.3433T>G (p.Phe1145Val)
c.2788T>G (p.Phe930Val)
n.5534T>G
c.5353T>G (p.Phe1785Val)
c.5347T>G (p.Phe1783Val)
c.3751T>G (p.Phe1251Val)
n.5560T>G
1g.102879757A>GCA341210889COL11A1c.5200T>C (p.Phe1734Leu)
n.573T>C
c.5083T>C (p.Phe1695Leu)
c.5236T>C (p.Phe1746Leu)
n.262T>C
c.4852T>C (p.Phe1618Leu)
c.4534T>C
c.3433T>C (p.Phe1145Leu)
c.2788T>C (p.Phe930Leu)
n.5534T>C
c.5353T>C (p.Phe1785Leu)
c.5347T>C (p.Phe1783Leu)
c.3751T>C (p.Phe1251Leu)
n.5560T>C
1g.102879757A>TCA341210890COL11A1c.5200T>A (p.Phe1734Ile)
n.573T>A
c.5083T>A (p.Phe1695Ile)
c.5236T>A (p.Phe1746Ile)
n.262T>A
c.4852T>A (p.Phe1618Ile)
c.4534T>A
c.3433T>A (p.Phe1145Ile)
c.2788T>A (p.Phe930Ile)
n.5534T>A
c.5353T>A (p.Phe1785Ile)
c.5347T>A (p.Phe1783Ile)
c.3751T>A (p.Phe1251Ile)
n.5560T>A
1g.102879758G>ACA419253409COL11A1c.5199C>T (p.Arg1733=)
n.572C>T
c.5082C>T (p.Arg1694=)
c.5235C>T (p.Arg1745=)
n.261C>T
c.4851C>T (p.Arg1617=)
c.4533C>T
c.3432C>T (p.Arg1144=)
c.2787C>T (p.Arg929=)
n.5533C>T
c.5352C>T (p.Arg1784=)
c.5346C>T (p.Arg1782=)
c.3750C>T (p.Arg1250=)
n.5559C>T
 gnomAD v4
1g.102879758G>CCA419253411COL11A1c.5199C>G (p.Arg1733=)
n.572C>G
c.5082C>G (p.Arg1694=)
c.5235C>G (p.Arg1745=)
n.261C>G
c.4851C>G (p.Arg1617=)
c.4533C>G
c.3432C>G (p.Arg1144=)
c.2787C>G (p.Arg929=)
n.5533C>G
c.5352C>G (p.Arg1784=)
c.5346C>G (p.Arg1782=)
c.3750C>G (p.Arg1250=)
n.5559C>G
 dbSNP
1g.102879758G>TCA419253410COL11A1c.5199C>A (p.Arg1733=)
n.572C>A
c.5082C>A (p.Arg1694=)
c.5235C>A (p.Arg1745=)
n.261C>A
c.4851C>A (p.Arg1617=)
c.4533C>A
c.3432C>A (p.Arg1144=)
c.2787C>A (p.Arg929=)
n.5533C>A
c.5352C>A (p.Arg1784=)
c.5346C>A (p.Arg1782=)
c.3750C>A (p.Arg1250=)
n.5559C>A
1g.102879759C>ACA341210892COL11A1c.5198G>T (p.Arg1733Leu)
n.571G>T
c.5081G>T (p.Arg1694Leu)
c.5234G>T (p.Arg1745Leu)
n.260G>T
c.4850G>T (p.Arg1617Leu)
c.4532G>T
c.3431G>T (p.Arg1144Leu)
c.2786G>T (p.Arg929Leu)
n.5532G>T
c.5351G>T (p.Arg1784Leu)
c.5345G>T (p.Arg1782Leu)
c.3749G>T (p.Arg1250Leu)
n.5558G>T
1g.102879759C=CA1141730870COL11A1c.5198G= (p.Arg1733=)
n.571G=
c.5081G= (p.Arg1694=)
c.5234G= (p.Arg1745=)
n.260G=
c.4850G= (p.Arg1617=)
c.4532G=
c.3431G= (p.Arg1144=)
c.2786G= (p.Arg929=)
n.5532G=
c.5351G= (p.Arg1784=)
c.5345G= (p.Arg1782=)
c.3749G= (p.Arg1250=)
n.5558G=
1g.102879759C>GCA341210891COL11A1c.5198G>C (p.Arg1733Pro)
n.571G>C
c.5081G>C (p.Arg1694Pro)
c.5234G>C (p.Arg1745Pro)
n.260G>C
c.4850G>C (p.Arg1617Pro)
c.4532G>C
c.3431G>C (p.Arg1144Pro)
c.2786G>C (p.Arg929Pro)
n.5532G>C
c.5351G>C (p.Arg1784Pro)
c.5345G>C (p.Arg1782Pro)
c.3749G>C (p.Arg1250Pro)
n.5558G>C
 COSMIC COSMIC
1g.102879759C>TCA246966COL11A1c.5198G>A (p.Arg1733His)
n.571G>A
c.5081G>A (p.Arg1694His)
c.5234G>A (p.Arg1745His)
n.260G>A
c.4850G>A (p.Arg1617His)
c.4532G>A
c.3431G>A (p.Arg1144His)
c.2786G>A (p.Arg929His)
n.5532G>A
c.5351G>A (p.Arg1784His)
c.5345G>A (p.Arg1782His)
c.3749G>A (p.Arg1250His)
n.5558G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched