Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237344332C=CA1337610826COL6A3c.313+18G=
c.7050+18G= (n.7050+18G=)
c.7668+18G= (n.7668+18G=)
c.5844+18G= (n.5844+18G=)
c.5847+18G= (n.5847+18G=)
n.1940G=
c.7068+18G= (n.7068+18G=)
c.6447+18G= (n.6447+18G=)
c.7167+18G= (n.7167+18G=)
c.7665+18G= (n.7665+18G=)
c.5262+18G= (n.5262+18G=)
2g.237344332C>TCA540749795COL6A3c.313+18G>A
c.7050+18G>A (n.7050+18G>A)
c.7668+18G>A (n.7668+18G>A)
c.5844+18G>A (n.5844+18G>A)
c.5847+18G>A (n.5847+18G>A)
n.1940G>A
c.7068+18G>A (n.7068+18G>A)
c.6447+18G>A (n.6447+18G>A)
c.7167+18G>A (n.7167+18G>A)
c.7665+18G>A (n.7665+18G>A)
c.5262+18G>A (n.5262+18G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237344334C>ACA1337610828COL6A3c.313+16G>T
c.7050+16G>T (n.7050+16G>T)
c.7668+16G>T (n.7668+16G>T)
c.5844+16G>T (n.5844+16G>T)
c.5847+16G>T (n.5847+16G>T)
n.1938G>T
c.7068+16G>T (n.7068+16G>T)
c.6447+16G>T (n.6447+16G>T)
c.7167+16G>T (n.7167+16G>T)
c.7665+16G>T (n.7665+16G>T)
c.5262+16G>T (n.5262+16G>T)
 dbSNP gnomAD v4
2g.237344334C=CA1337610827COL6A3c.313+16G=
c.7050+16G= (n.7050+16G=)
c.7668+16G= (n.7668+16G=)
c.5844+16G= (n.5844+16G=)
c.5847+16G= (n.5847+16G=)
n.1938G=
c.7068+16G= (n.7068+16G=)
c.6447+16G= (n.6447+16G=)
c.7167+16G= (n.7167+16G=)
c.7665+16G= (n.7665+16G=)
c.5262+16G= (n.5262+16G=)
2g.237344334C>TCA2187750COL6A3c.313+16G>A
c.7050+16G>A (n.7050+16G>A)
c.7668+16G>A (n.7668+16G>A)
c.5844+16G>A (n.5844+16G>A)
c.5847+16G>A (n.5847+16G>A)
n.1938G>A
c.7068+16G>A (n.7068+16G>A)
c.6447+16G>A (n.6447+16G>A)
c.7167+16G>A (n.7167+16G>A)
c.7665+16G>A (n.7665+16G>A)
c.5262+16G>A (n.5262+16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237344335G>ACA2187751COL6A3c.313+15C>T
c.7050+15C>T (n.7050+15C>T)
c.7668+15C>T (n.7668+15C>T)
c.5844+15C>T (n.5844+15C>T)
c.5847+15C>T (n.5847+15C>T)
n.1937C>T
c.7068+15C>T (n.7068+15C>T)
c.6447+15C>T (n.6447+15C>T)
c.7167+15C>T (n.7167+15C>T)
c.7665+15C>T (n.7665+15C>T)
c.5262+15C>T (n.5262+15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344335G>CCA2663794491COL6A3c.313+15C>G
c.7050+15C>G (n.7050+15C>G)
c.7668+15C>G (n.7668+15C>G)
c.5844+15C>G (n.5844+15C>G)
c.5847+15C>G (n.5847+15C>G)
n.1937C>G
c.7068+15C>G (n.7068+15C>G)
c.6447+15C>G (n.6447+15C>G)
c.7167+15C>G (n.7167+15C>G)
c.7665+15C>G (n.7665+15C>G)
c.5262+15C>G (n.5262+15C>G)
 gnomAD v4
2g.237344335G=CA1337610829COL6A3c.313+15C=
c.7050+15C= (n.7050+15C=)
c.7668+15C= (n.7668+15C=)
c.5844+15C= (n.5844+15C=)
c.5847+15C= (n.5847+15C=)
n.1937C=
c.7068+15C= (n.7068+15C=)
c.6447+15C= (n.6447+15C=)
c.7167+15C= (n.7167+15C=)
c.7665+15C= (n.7665+15C=)
c.5262+15C= (n.5262+15C=)
2g.237344335G>TCA540749796COL6A3c.313+15C>A
c.7050+15C>A (n.7050+15C>A)
c.7668+15C>A (n.7668+15C>A)
c.5844+15C>A (n.5844+15C>A)
c.5847+15C>A (n.5847+15C>A)
n.1937C>A
c.7068+15C>A (n.7068+15C>A)
c.6447+15C>A (n.6447+15C>A)
c.7167+15C>A (n.7167+15C>A)
c.7665+15C>A (n.7665+15C>A)
c.5262+15C>A (n.5262+15C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237344336C=CA1337610830COL6A3c.313+14G=
c.7050+14G= (n.7050+14G=)
c.7668+14G= (n.7668+14G=)
c.5844+14G= (n.5844+14G=)
c.5847+14G= (n.5847+14G=)
n.1936G=
c.7068+14G= (n.7068+14G=)
c.6447+14G= (n.6447+14G=)
c.7167+14G= (n.7167+14G=)
c.7665+14G= (n.7665+14G=)
c.5262+14G= (n.5262+14G=)
2g.237344336C>TCA67838895COL6A3c.313+14G>A
c.7050+14G>A (n.7050+14G>A)
c.7668+14G>A (n.7668+14G>A)
c.5844+14G>A (n.5844+14G>A)
c.5847+14G>A (n.5847+14G>A)
n.1936G>A
c.7068+14G>A (n.7068+14G>A)
c.6447+14G>A (n.6447+14G>A)
c.7167+14G>A (n.7167+14G>A)
c.7665+14G>A (n.7665+14G>A)
c.5262+14G>A (n.5262+14G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237344337A>GCA2663794498COL6A3c.313+13T>C
c.7050+13T>C (n.7050+13T>C)
c.7668+13T>C (n.7668+13T>C)
c.5844+13T>C (n.5844+13T>C)
c.5847+13T>C (n.5847+13T>C)
n.1935T>C
c.7068+13T>C (n.7068+13T>C)
c.6447+13T>C (n.6447+13T>C)
c.7167+13T>C (n.7167+13T>C)
c.7665+13T>C (n.7665+13T>C)
c.5262+13T>C (n.5262+13T>C)
 gnomAD v4
2g.237344340G>ACA2754786816COL6A3c.313+10C>T
c.7050+10C>T (n.7050+10C>T)
c.7668+10C>T (n.7668+10C>T)
c.5844+10C>T (n.5844+10C>T)
c.5847+10C>T (n.5847+10C>T)
n.1932C>T
c.7068+10C>T (n.7068+10C>T)
c.6447+10C>T (n.6447+10C>T)
c.7167+10C>T (n.7167+10C>T)
c.7665+10C>T (n.7665+10C>T)
c.5262+10C>T (n.5262+10C>T)
2g.237344340G>CCA766629359COL6A3c.313+10C>G
c.7050+10C>G (n.7050+10C>G)
c.7668+10C>G (n.7668+10C>G)
c.5844+10C>G (n.5844+10C>G)
c.5847+10C>G (n.5847+10C>G)
n.1932C>G
c.7068+10C>G (n.7068+10C>G)
c.6447+10C>G (n.6447+10C>G)
c.7167+10C>G (n.7167+10C>G)
c.7665+10C>G (n.7665+10C>G)
c.5262+10C>G (n.5262+10C>G)
 dbSNP gnomAD v4
2g.237344340G=CA1337610831COL6A3c.313+10C=
c.7050+10C= (n.7050+10C=)
c.7668+10C= (n.7668+10C=)
c.5844+10C= (n.5844+10C=)
c.5847+10C= (n.5847+10C=)
n.1932C=
c.7068+10C= (n.7068+10C=)
c.6447+10C= (n.6447+10C=)
c.7167+10C= (n.7167+10C=)
c.7665+10C= (n.7665+10C=)
c.5262+10C= (n.5262+10C=)
2g.237344342G>ACA2663794500COL6A3c.313+8C>T
c.7050+8C>T (n.7050+8C>T)
c.7668+8C>T (n.7668+8C>T)
c.5844+8C>T (n.5844+8C>T)
c.5847+8C>T (n.5847+8C>T)
n.1930C>T
c.7068+8C>T (n.7068+8C>T)
c.6447+8C>T (n.6447+8C>T)
c.7167+8C>T (n.7167+8C>T)
c.7665+8C>T (n.7665+8C>T)
c.5262+8C>T (n.5262+8C>T)
 gnomAD v4
2g.237344345C>GCA2697550604COL6A3c.313+5G>C
c.7050+5G>C (n.7050+5G>C)
c.7668+5G>C (n.7668+5G>C)
c.5844+5G>C (n.5844+5G>C)
c.5847+5G>C (n.5847+5G>C)
n.1927G>C
c.7068+5G>C (n.7068+5G>C)
c.6447+5G>C (n.6447+5G>C)
c.7167+5G>C (n.7167+5G>C)
c.7665+5G>C (n.7665+5G>C)
c.5262+5G>C (n.5262+5G>C)
 ClinVar
2g.237344347G>ACA2663794502COL6A3c.313+3C>T
c.7050+3C>T (n.7050+3C>T)
c.7668+3C>T (n.7668+3C>T)
c.5844+3C>T (n.5844+3C>T)
c.5847+3C>T (n.5847+3C>T)
n.1925C>T
c.7068+3C>T (n.7068+3C>T)
c.6447+3C>T (n.6447+3C>T)
c.7167+3C>T (n.7167+3C>T)
c.7665+3C>T (n.7665+3C>T)
c.5262+3C>T (n.5262+3C>T)
 gnomAD v4
2g.237344347G=CA1337610832COL6A3c.313+3C=
c.7050+3C= (n.7050+3C=)
c.7668+3C= (n.7668+3C=)
c.5844+3C= (n.5844+3C=)
c.5847+3C= (n.5847+3C=)
n.1925C=
c.7068+3C= (n.7068+3C=)
c.6447+3C= (n.6447+3C=)
c.7167+3C= (n.7167+3C=)
c.7665+3C= (n.7665+3C=)
c.5262+3C= (n.5262+3C=)
2g.237344347G>TCA2187752COL6A3c.313+3C>A
c.7050+3C>A (n.7050+3C>A)
c.7668+3C>A (n.7668+3C>A)
c.5844+3C>A (n.5844+3C>A)
c.5847+3C>A (n.5847+3C>A)
n.1925C>A
c.7068+3C>A (n.7068+3C>A)
c.6447+3C>A (n.6447+3C>A)
c.7167+3C>A (n.7167+3C>A)
c.7665+3C>A (n.7665+3C>A)
c.5262+3C>A (n.5262+3C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344348A>CCA351201407COL6A3c.313+2T>G
c.7050+2T>G (n.7050+2T>G)
c.7668+2T>G (n.7668+2T>G)
c.5844+2T>G (n.5844+2T>G)
c.5847+2T>G (n.5847+2T>G)
n.1924T>G
c.7068+2T>G (n.7068+2T>G)
c.6447+2T>G (n.6447+2T>G)
c.7167+2T>G (n.7167+2T>G)
c.7665+2T>G (n.7665+2T>G)
c.5262+2T>G (n.5262+2T>G)
2g.237344348A>GCA351201413COL6A3c.313+2T>C
c.7050+2T>C (n.7050+2T>C)
c.7668+2T>C (n.7668+2T>C)
c.5844+2T>C (n.5844+2T>C)
c.5847+2T>C (n.5847+2T>C)
n.1924T>C
c.7068+2T>C (n.7068+2T>C)
c.6447+2T>C (n.6447+2T>C)
c.7167+2T>C (n.7167+2T>C)
c.7665+2T>C (n.7665+2T>C)
c.5262+2T>C (n.5262+2T>C)
2g.237344348A>TCA351201415COL6A3c.313+2T>A
c.7050+2T>A (n.7050+2T>A)
c.7668+2T>A (n.7668+2T>A)
c.5844+2T>A (n.5844+2T>A)
c.5847+2T>A (n.5847+2T>A)
n.1924T>A
c.7068+2T>A (n.7068+2T>A)
c.6447+2T>A (n.6447+2T>A)
c.7167+2T>A (n.7167+2T>A)
c.7665+2T>A (n.7665+2T>A)
c.5262+2T>A (n.5262+2T>A)
2g.237344349C>ACA351201420COL6A3c.313+1G>T
c.7050+1G>T (n.7050+1G>T)
c.7668+1G>T (n.7668+1G>T)
c.5844+1G>T (n.5844+1G>T)
c.5847+1G>T (n.5847+1G>T)
n.1923G>T
c.7068+1G>T (n.7068+1G>T)
c.6447+1G>T (n.6447+1G>T)
c.7167+1G>T (n.7167+1G>T)
c.7665+1G>T (n.7665+1G>T)
c.5262+1G>T (n.5262+1G>T)
 gnomAD v4
2g.237344349C>GCA351201425COL6A3c.313+1G>C
c.7050+1G>C (n.7050+1G>C)
c.7668+1G>C (n.7668+1G>C)
c.5844+1G>C (n.5844+1G>C)
c.5847+1G>C (n.5847+1G>C)
n.1923G>C
c.7068+1G>C (n.7068+1G>C)
c.6447+1G>C (n.6447+1G>C)
c.7167+1G>C (n.7167+1G>C)
c.7665+1G>C (n.7665+1G>C)
c.5262+1G>C (n.5262+1G>C)
2g.237344349C>TCA351201422COL6A3c.313+1G>A
c.7050+1G>A (n.7050+1G>A)
c.7668+1G>A (n.7668+1G>A)
c.5844+1G>A (n.5844+1G>A)
c.5847+1G>A (n.5847+1G>A)
n.1923G>A
c.7068+1G>A (n.7068+1G>A)
c.6447+1G>A (n.6447+1G>A)
c.7167+1G>A (n.7167+1G>A)
c.7665+1G>A (n.7665+1G>A)
c.5262+1G>A (n.5262+1G>A)
2g.237344350C>ACA351201429COL6A3c.313G>T
c.7050G>T (p.Gln2350His)
c.7668G>T (p.Gln2556His)
c.5844G>T (p.Gln1948His)
c.5847G>T (p.Gln1949His)
n.1922G>T
c.7068G>T (p.Gln2356His)
c.6447G>T (p.Gln2149His)
c.7167G>T (p.Gln2389His)
c.7665G>T (p.Gln2555His)
c.5262G>T (p.Gln1754His)
 ClinVar dbSNP
2g.237344350C=CA1337610833COL6A3c.313G=
c.7050G= (p.Gln2350=)
c.7668G= (p.Gln2556=)
c.5844G= (p.Gln1948=)
c.5847G= (p.Gln1949=)
n.1922G=
c.7068G= (p.Gln2356=)
c.6447G= (p.Gln2149=)
c.7167G= (p.Gln2389=)
c.7665G= (p.Gln2555=)
c.5262G= (p.Gln1754=)
2g.237344350C>GCA351201431COL6A3c.313G>C
c.7050G>C (p.Gln2350His)
c.7668G>C (p.Gln2556His)
c.5844G>C (p.Gln1948His)
c.5847G>C (p.Gln1949His)
n.1922G>C
c.7068G>C (p.Gln2356His)
c.6447G>C (p.Gln2149His)
c.7167G>C (p.Gln2389His)
c.7665G>C (p.Gln2555His)
c.5262G>C (p.Gln1754His)
2g.237344350C>TCA431710094COL6A3c.313G>A
c.7050G>A (p.Gln2350=)
c.7668G>A (p.Gln2556=)
c.5844G>A (p.Gln1948=)
c.5847G>A (p.Gln1949=)
n.1922G>A
c.7068G>A (p.Gln2356=)
c.6447G>A (p.Gln2149=)
c.7167G>A (p.Gln2389=)
c.7665G>A (p.Gln2555=)
c.5262G>A (p.Gln1754=)
2g.237344351T>ACA351201432COL6A3c.312A>T
c.7049A>T (p.Gln2350Leu)
c.7667A>T (p.Gln2556Leu)
c.5843A>T (p.Gln1948Leu)
c.5846A>T (p.Gln1949Leu)
n.1921A>T
c.7067A>T (p.Gln2356Leu)
c.6446A>T (p.Gln2149Leu)
c.7166A>T (p.Gln2389Leu)
c.7664A>T (p.Gln2555Leu)
c.5261A>T (p.Gln1754Leu)
2g.237344351T>CCA351201433COL6A3c.312A>G
c.7049A>G (p.Gln2350Arg)
c.7667A>G (p.Gln2556Arg)
c.5843A>G (p.Gln1948Arg)
c.5846A>G (p.Gln1949Arg)
n.1921A>G
c.7067A>G (p.Gln2356Arg)
c.6446A>G (p.Gln2149Arg)
c.7166A>G (p.Gln2389Arg)
c.7664A>G (p.Gln2555Arg)
c.5261A>G (p.Gln1754Arg)
2g.237344351T>GCA351201434COL6A3c.312A>C
c.7049A>C (p.Gln2350Pro)
c.7667A>C (p.Gln2556Pro)
c.5843A>C (p.Gln1948Pro)
c.5846A>C (p.Gln1949Pro)
n.1921A>C
c.7067A>C (p.Gln2356Pro)
c.6446A>C (p.Gln2149Pro)
c.7166A>C (p.Gln2389Pro)
c.7664A>C (p.Gln2555Pro)
c.5261A>C (p.Gln1754Pro)
2g.237344352G>ACA351201437COL6A3c.311C>T
c.7048C>T (p.Gln2350Ter)
c.7666C>T (p.Gln2556Ter)
c.5842C>T (p.Gln1948Ter)
c.5845C>T (p.Gln1949Ter)
n.1920C>T
c.7066C>T (p.Gln2356Ter)
c.6445C>T (p.Gln2149Ter)
c.7165C>T (p.Gln2389Ter)
c.7663C>T (p.Gln2555Ter)
c.5260C>T (p.Gln1754Ter)
 ClinVar dbSNP
2g.237344352G>CCA351201440COL6A3c.311C>G
c.7048C>G (p.Gln2350Glu)
c.7666C>G (p.Gln2556Glu)
c.5842C>G (p.Gln1948Glu)
c.5845C>G (p.Gln1949Glu)
n.1920C>G
c.7066C>G (p.Gln2356Glu)
c.6445C>G (p.Gln2149Glu)
c.7165C>G (p.Gln2389Glu)
c.7663C>G (p.Gln2555Glu)
c.5260C>G (p.Gln1754Glu)
2g.237344352G=CA1337610834COL6A3c.311C=
c.7048C= (p.Gln2350=)
c.7666C= (p.Gln2556=)
c.5842C= (p.Gln1948=)
c.5845C= (p.Gln1949=)
n.1920C=
c.7066C= (p.Gln2356=)
c.6445C= (p.Gln2149=)
c.7165C= (p.Gln2389=)
c.7663C= (p.Gln2555=)
c.5260C= (p.Gln1754=)
2g.237344352G>TCA351201443COL6A3c.311C>A
c.7048C>A (p.Gln2350Lys)
c.7666C>A (p.Gln2556Lys)
c.5842C>A (p.Gln1948Lys)
c.5845C>A (p.Gln1949Lys)
n.1920C>A
c.7066C>A (p.Gln2356Lys)
c.6445C>A (p.Gln2149Lys)
c.7165C>A (p.Gln2389Lys)
c.7663C>A (p.Gln2555Lys)
c.5260C>A (p.Gln1754Lys)
2g.237344353C>ACA351201446COL6A3c.310G>T
c.7047G>T (p.Leu2349Phe)
c.7665G>T (p.Leu2555Phe)
c.5841G>T (p.Leu1947Phe)
c.5844G>T (p.Leu1948Phe)
n.1919G>T
c.7065G>T (p.Leu2355Phe)
c.6444G>T (p.Leu2148Phe)
c.7164G>T (p.Leu2388Phe)
c.7662G>T (p.Leu2554Phe)
c.5259G>T (p.Leu1753Phe)
2g.237344353C>GCA351201448COL6A3c.310G>C
c.7047G>C (p.Leu2349Phe)
c.7665G>C (p.Leu2555Phe)
c.5841G>C (p.Leu1947Phe)
c.5844G>C (p.Leu1948Phe)
n.1919G>C
c.7065G>C (p.Leu2355Phe)
c.6444G>C (p.Leu2148Phe)
c.7164G>C (p.Leu2388Phe)
c.7662G>C (p.Leu2554Phe)
c.5259G>C (p.Leu1753Phe)
2g.237344353C>TCA431710095COL6A3c.310G>A
c.7047G>A (p.Leu2349=)
c.7665G>A (p.Leu2555=)
c.5841G>A (p.Leu1947=)
c.5844G>A (p.Leu1948=)
n.1919G>A
c.7065G>A (p.Leu2355=)
c.6444G>A (p.Leu2148=)
c.7164G>A (p.Leu2388=)
c.7662G>A (p.Leu2554=)
c.5259G>A (p.Leu1753=)
2g.237344354A>CCA351201453COL6A3c.309T>G
c.7046T>G (p.Leu2349Trp)
c.7664T>G (p.Leu2555Trp)
c.5840T>G (p.Leu1947Trp)
c.5843T>G (p.Leu1948Trp)
n.1918T>G
c.7064T>G (p.Leu2355Trp)
c.6443T>G (p.Leu2148Trp)
c.7163T>G (p.Leu2388Trp)
c.7661T>G (p.Leu2554Trp)
c.5258T>G (p.Leu1753Trp)
2g.237344354A>GCA351201455COL6A3c.309T>C
c.7046T>C (p.Leu2349Ser)
c.7664T>C (p.Leu2555Ser)
c.5840T>C (p.Leu1947Ser)
c.5843T>C (p.Leu1948Ser)
n.1918T>C
c.7064T>C (p.Leu2355Ser)
c.6443T>C (p.Leu2148Ser)
c.7163T>C (p.Leu2388Ser)
c.7661T>C (p.Leu2554Ser)
c.5258T>C (p.Leu1753Ser)
2g.237344354A>TCA351201457COL6A3c.309T>A
c.7046T>A (p.Leu2349Ter)
c.7664T>A (p.Leu2555Ter)
c.5840T>A (p.Leu1947Ter)
c.5843T>A (p.Leu1948Ter)
n.1918T>A
c.7064T>A (p.Leu2355Ter)
c.6443T>A (p.Leu2148Ter)
c.7163T>A (p.Leu2388Ter)
c.7661T>A (p.Leu2554Ter)
c.5258T>A (p.Leu1753Ter)
2g.237344355A>CCA351201463COL6A3c.308T>G
c.7045T>G (p.Leu2349Val)
c.7663T>G (p.Leu2555Val)
c.5839T>G (p.Leu1947Val)
c.5842T>G (p.Leu1948Val)
n.1917T>G
c.7063T>G (p.Leu2355Val)
c.6442T>G (p.Leu2148Val)
c.7162T>G (p.Leu2388Val)
c.7660T>G (p.Leu2554Val)
c.5257T>G (p.Leu1753Val)
2g.237344355A>GCA431710096COL6A3c.308T>C
c.7045T>C (p.Leu2349=)
c.7663T>C (p.Leu2555=)
c.5839T>C (p.Leu1947=)
c.5842T>C (p.Leu1948=)
n.1917T>C
c.7063T>C (p.Leu2355=)
c.6442T>C (p.Leu2148=)
c.7162T>C (p.Leu2388=)
c.7660T>C (p.Leu2554=)
c.5257T>C (p.Leu1753=)
2g.237344355A>TCA351201460COL6A3c.308T>A
c.7045T>A (p.Leu2349Met)
c.7663T>A (p.Leu2555Met)
c.5839T>A (p.Leu1947Met)
c.5842T>A (p.Leu1948Met)
n.1917T>A
c.7063T>A (p.Leu2355Met)
c.6442T>A (p.Leu2148Met)
c.7162T>A (p.Leu2388Met)
c.7660T>A (p.Leu2554Met)
c.5257T>A (p.Leu1753Met)
2g.237344356A>CCA431710097COL6A3c.307T>G
c.7044T>G (p.Ala2348=)
c.7662T>G (p.Ala2554=)
c.5838T>G (p.Ala1946=)
c.5841T>G (p.Ala1947=)
n.1916T>G
c.7062T>G (p.Ala2354=)
c.6441T>G (p.Ala2147=)
c.7161T>G (p.Ala2387=)
c.7659T>G (p.Ala2553=)
c.5256T>G (p.Ala1752=)
2g.237344356A>GCA431710098COL6A3c.307T>C
c.7044T>C (p.Ala2348=)
c.7662T>C (p.Ala2554=)
c.5838T>C (p.Ala1946=)
c.5841T>C (p.Ala1947=)
n.1916T>C
c.7062T>C (p.Ala2354=)
c.6441T>C (p.Ala2147=)
c.7161T>C (p.Ala2387=)
c.7659T>C (p.Ala2553=)
c.5256T>C (p.Ala1752=)
2g.237344356A>TCA431710099COL6A3c.307T>A
c.7044T>A (p.Ala2348=)
c.7662T>A (p.Ala2554=)
c.5838T>A (p.Ala1946=)
c.5841T>A (p.Ala1947=)
n.1916T>A
c.7062T>A (p.Ala2354=)
c.6441T>A (p.Ala2147=)
c.7161T>A (p.Ala2387=)
c.7659T>A (p.Ala2553=)
c.5256T>A (p.Ala1752=)
2g.237344357G>ACA351201477COL6A3c.306C>T
c.7043C>T (p.Ala2348Val)
c.7661C>T (p.Ala2554Val)
c.5837C>T (p.Ala1946Val)
c.5840C>T (p.Ala1947Val)
n.1915C>T
c.7061C>T (p.Ala2354Val)
c.6440C>T (p.Ala2147Val)
c.7160C>T (p.Ala2387Val)
c.7658C>T (p.Ala2553Val)
c.5255C>T (p.Ala1752Val)
2g.237344357G>CCA351201479COL6A3c.306C>G
c.7043C>G (p.Ala2348Gly)
c.7661C>G (p.Ala2554Gly)
c.5837C>G (p.Ala1946Gly)
c.5840C>G (p.Ala1947Gly)
n.1915C>G
c.7061C>G (p.Ala2354Gly)
c.6440C>G (p.Ala2147Gly)
c.7160C>G (p.Ala2387Gly)
c.7658C>G (p.Ala2553Gly)
c.5255C>G (p.Ala1752Gly)
2g.237344357G>TCA351201480COL6A3c.306C>A
c.7043C>A (p.Ala2348Asp)
c.7661C>A (p.Ala2554Asp)
c.5837C>A (p.Ala1946Asp)
c.5840C>A (p.Ala1947Asp)
n.1915C>A
c.7061C>A (p.Ala2354Asp)
c.6440C>A (p.Ala2147Asp)
c.7160C>A (p.Ala2387Asp)
c.7658C>A (p.Ala2553Asp)
c.5255C>A (p.Ala1752Asp)
 gnomAD v4
2g.237344358C>ACA351201483COL6A3c.305G>T
c.7042G>T (p.Ala2348Ser)
c.7660G>T (p.Ala2554Ser)
c.5836G>T (p.Ala1946Ser)
c.5839G>T (p.Ala1947Ser)
n.1914G>T
c.7060G>T (p.Ala2354Ser)
c.6439G>T (p.Ala2147Ser)
c.7159G>T (p.Ala2387Ser)
c.7657G>T (p.Ala2553Ser)
c.5254G>T (p.Ala1752Ser)
 COSMIC
2g.237344358C=CA1337610835COL6A3c.305G=
c.7042G= (p.Ala2348=)
c.7660G= (p.Ala2554=)
c.5836G= (p.Ala1946=)
c.5839G= (p.Ala1947=)
n.1914G=
c.7060G= (p.Ala2354=)
c.6439G= (p.Ala2147=)
c.7159G= (p.Ala2387=)
c.7657G= (p.Ala2553=)
c.5254G= (p.Ala1752=)
2g.237344358C>GCA351201486COL6A3c.305G>C
c.7042G>C (p.Ala2348Pro)
c.7660G>C (p.Ala2554Pro)
c.5836G>C (p.Ala1946Pro)
c.5839G>C (p.Ala1947Pro)
n.1914G>C
c.7060G>C (p.Ala2354Pro)
c.6439G>C (p.Ala2147Pro)
c.7159G>C (p.Ala2387Pro)
c.7657G>C (p.Ala2553Pro)
c.5254G>C (p.Ala1752Pro)
2g.237344358C>TCA200139COL6A3c.305G>A
c.7042G>A (p.Ala2348Thr)
c.7660G>A (p.Ala2554Thr)
c.5836G>A (p.Ala1946Thr)
c.5839G>A (p.Ala1947Thr)
n.1914G>A
c.7060G>A (p.Ala2354Thr)
c.6439G>A (p.Ala2147Thr)
c.7159G>A (p.Ala2387Thr)
c.7657G>A (p.Ala2553Thr)
c.5254G>A (p.Ala1752Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237344359G>ACA2187753COL6A3c.304C>T
c.7041C>T (p.Asn2347=)
c.7659C>T (p.Asn2553=)
c.5835C>T (p.Asn1945=)
c.5838C>T (p.Asn1946=)
n.1913C>T
c.7059C>T (p.Asn2353=)
c.6438C>T (p.Asn2146=)
c.7158C>T (p.Asn2386=)
c.7656C>T (p.Asn2552=)
c.5253C>T (p.Asn1751=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344359G>CCA351201494COL6A3c.304C>G
c.7041C>G (p.Asn2347Lys)
c.7659C>G (p.Asn2553Lys)
c.5835C>G (p.Asn1945Lys)
c.5838C>G (p.Asn1946Lys)
n.1913C>G
c.7059C>G (p.Asn2353Lys)
c.6438C>G (p.Asn2146Lys)
c.7158C>G (p.Asn2386Lys)
c.7656C>G (p.Asn2552Lys)
c.5253C>G (p.Asn1751Lys)
 gnomAD v4
2g.237344359G=CA1337610836COL6A3c.304C=
c.7041C= (p.Asn2347=)
c.7659C= (p.Asn2553=)
c.5835C= (p.Asn1945=)
c.5838C= (p.Asn1946=)
n.1913C=
c.7059C= (p.Asn2353=)
c.6438C= (p.Asn2146=)
c.7158C= (p.Asn2386=)
c.7656C= (p.Asn2552=)
c.5253C= (p.Asn1751=)
2g.237344359G>TCA351201497COL6A3c.304C>A
c.7041C>A (p.Asn2347Lys)
c.7659C>A (p.Asn2553Lys)
c.5835C>A (p.Asn1945Lys)
c.5838C>A (p.Asn1946Lys)
n.1913C>A
c.7059C>A (p.Asn2353Lys)
c.6438C>A (p.Asn2146Lys)
c.7158C>A (p.Asn2386Lys)
c.7656C>A (p.Asn2552Lys)
c.5253C>A (p.Asn1751Lys)
2g.237344360T>ACA351201499COL6A3c.303A>T
c.7040A>T (p.Asn2347Ile)
c.7658A>T (p.Asn2553Ile)
c.5834A>T (p.Asn1945Ile)
c.5837A>T (p.Asn1946Ile)
n.1912A>T
c.7058A>T (p.Asn2353Ile)
c.6437A>T (p.Asn2146Ile)
c.7157A>T (p.Asn2386Ile)
c.7655A>T (p.Asn2552Ile)
c.5252A>T (p.Asn1751Ile)
2g.237344360T>CCA67838903COL6A3c.303A>G
c.7040A>G (p.Asn2347Ser)
c.7658A>G (p.Asn2553Ser)
c.5834A>G (p.Asn1945Ser)
c.5837A>G (p.Asn1946Ser)
n.1912A>G
c.7058A>G (p.Asn2353Ser)
c.6437A>G (p.Asn2146Ser)
c.7157A>G (p.Asn2386Ser)
c.7655A>G (p.Asn2552Ser)
c.5252A>G (p.Asn1751Ser)
 dbSNP gnomAD v4
2g.237344360T>GCA351201502COL6A3c.303A>C
c.7040A>C (p.Asn2347Thr)
c.7658A>C (p.Asn2553Thr)
c.5834A>C (p.Asn1945Thr)
c.5837A>C (p.Asn1946Thr)
n.1912A>C
c.7058A>C (p.Asn2353Thr)
c.6437A>C (p.Asn2146Thr)
c.7157A>C (p.Asn2386Thr)
c.7655A>C (p.Asn2552Thr)
c.5252A>C (p.Asn1751Thr)
2g.237344360T=CA1337610837COL6A3c.303A=
c.7040A= (p.Asn2347=)
c.7658A= (p.Asn2553=)
c.5834A= (p.Asn1945=)
c.5837A= (p.Asn1946=)
n.1912A=
c.7058A= (p.Asn2353=)
c.6437A= (p.Asn2146=)
c.7157A= (p.Asn2386=)
c.7655A= (p.Asn2552=)
c.5252A= (p.Asn1751=)
2g.237344361T>ACA351201507COL6A3c.302A>T
c.7039A>T (p.Asn2347Tyr)
c.7657A>T (p.Asn2553Tyr)
c.5833A>T (p.Asn1945Tyr)
c.5836A>T (p.Asn1946Tyr)
n.1911A>T
c.7057A>T (p.Asn2353Tyr)
c.6436A>T (p.Asn2146Tyr)
c.7156A>T (p.Asn2386Tyr)
c.7654A>T (p.Asn2552Tyr)
c.5251A>T (p.Asn1751Tyr)
2g.237344361T>CCA351201510COL6A3c.302A>G
c.7039A>G (p.Asn2347Asp)
c.7657A>G (p.Asn2553Asp)
c.5833A>G (p.Asn1945Asp)
c.5836A>G (p.Asn1946Asp)
n.1911A>G
c.7057A>G (p.Asn2353Asp)
c.6436A>G (p.Asn2146Asp)
c.7156A>G (p.Asn2386Asp)
c.7654A>G (p.Asn2552Asp)
c.5251A>G (p.Asn1751Asp)
2g.237344361T>GCA351201506COL6A3c.302A>C
c.7039A>C (p.Asn2347His)
c.7657A>C (p.Asn2553His)
c.5833A>C (p.Asn1945His)
c.5836A>C (p.Asn1946His)
n.1911A>C
c.7057A>C (p.Asn2353His)
c.6436A>C (p.Asn2146His)
c.7156A>C (p.Asn2386His)
c.7654A>C (p.Asn2552His)
c.5251A>C (p.Asn1751His)
2g.237344362G>ACA431710101COL6A3c.301C>T
c.7038C>T (p.Ile2346=)
c.7656C>T (p.Ile2552=)
c.5832C>T (p.Ile1944=)
c.5835C>T (p.Ile1945=)
n.1910C>T
c.7056C>T (p.Ile2352=)
c.6435C>T (p.Ile2145=)
c.7155C>T (p.Ile2385=)
c.7653C>T (p.Ile2551=)
c.5250C>T (p.Ile1750=)
2g.237344362G>CCA351201512COL6A3c.301C>G
c.7038C>G (p.Ile2346Met)
c.7656C>G (p.Ile2552Met)
c.5832C>G (p.Ile1944Met)
c.5835C>G (p.Ile1945Met)
n.1910C>G
c.7056C>G (p.Ile2352Met)
c.6435C>G (p.Ile2145Met)
c.7155C>G (p.Ile2385Met)
c.7653C>G (p.Ile2551Met)
c.5250C>G (p.Ile1750Met)
 gnomAD v4
2g.237344362G>TCA431710100COL6A3c.301C>A
c.7038C>A (p.Ile2346=)
c.7656C>A (p.Ile2552=)
c.5832C>A (p.Ile1944=)
c.5835C>A (p.Ile1945=)
n.1910C>A
c.7056C>A (p.Ile2352=)
c.6435C>A (p.Ile2145=)
c.7155C>A (p.Ile2385=)
c.7653C>A (p.Ile2551=)
c.5250C>A (p.Ile1750=)
2g.237344363A=CA1337610838COL6A3c.300T=
c.7037T= (p.Ile2346=)
c.7655T= (p.Ile2552=)
c.5831T= (p.Ile1944=)
c.5834T= (p.Ile1945=)
n.1909T=
c.7055T= (p.Ile2352=)
c.6434T= (p.Ile2145=)
c.7154T= (p.Ile2385=)
c.7652T= (p.Ile2551=)
c.5249T= (p.Ile1750=)
2g.237344363A>CCA351201518COL6A3c.300T>G
c.7037T>G (p.Ile2346Ser)
c.7655T>G (p.Ile2552Ser)
c.5831T>G (p.Ile1944Ser)
c.5834T>G (p.Ile1945Ser)
n.1909T>G
c.7055T>G (p.Ile2352Ser)
c.6434T>G (p.Ile2145Ser)
c.7154T>G (p.Ile2385Ser)
c.7652T>G (p.Ile2551Ser)
c.5249T>G (p.Ile1750Ser)
2g.237344363A>GCA351201520COL6A3c.300T>C
c.7037T>C (p.Ile2346Thr)
c.7655T>C (p.Ile2552Thr)
c.5831T>C (p.Ile1944Thr)
c.5834T>C (p.Ile1945Thr)
n.1909T>C
c.7055T>C (p.Ile2352Thr)
c.6434T>C (p.Ile2145Thr)
c.7154T>C (p.Ile2385Thr)
c.7652T>C (p.Ile2551Thr)
c.5249T>C (p.Ile1750Thr)
2g.237344363A>TCA2187754COL6A3c.300T>A
c.7037T>A (p.Ile2346Asn)
c.7655T>A (p.Ile2552Asn)
c.5831T>A (p.Ile1944Asn)
c.5834T>A (p.Ile1945Asn)
n.1909T>A
c.7055T>A (p.Ile2352Asn)
c.6434T>A (p.Ile2145Asn)
c.7154T>A (p.Ile2385Asn)
c.7652T>A (p.Ile2551Asn)
c.5249T>A (p.Ile1750Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344364T>ACA351201528COL6A3c.299A>T
c.7036A>T (p.Ile2346Phe)
c.7654A>T (p.Ile2552Phe)
c.5830A>T (p.Ile1944Phe)
c.5833A>T (p.Ile1945Phe)
n.1908A>T
c.7054A>T (p.Ile2352Phe)
c.6433A>T (p.Ile2145Phe)
c.7153A>T (p.Ile2385Phe)
c.7651A>T (p.Ile2551Phe)
c.5248A>T (p.Ile1750Phe)
2g.237344364T>CCA351201529COL6A3c.299A>G
c.7036A>G (p.Ile2346Val)
c.7654A>G (p.Ile2552Val)
c.5830A>G (p.Ile1944Val)
c.5833A>G (p.Ile1945Val)
n.1908A>G
c.7054A>G (p.Ile2352Val)
c.6433A>G (p.Ile2145Val)
c.7153A>G (p.Ile2385Val)
c.7651A>G (p.Ile2551Val)
c.5248A>G (p.Ile1750Val)
 dbSNP
2g.237344364T>GCA351201532COL6A3c.299A>C
c.7036A>C (p.Ile2346Leu)
c.7654A>C (p.Ile2552Leu)
c.5830A>C (p.Ile1944Leu)
c.5833A>C (p.Ile1945Leu)
n.1908A>C
c.7054A>C (p.Ile2352Leu)
c.6433A>C (p.Ile2145Leu)
c.7153A>C (p.Ile2385Leu)
c.7651A>C (p.Ile2551Leu)
c.5248A>C (p.Ile1750Leu)
2g.237344364T=CA1337610839COL6A3c.299A=
c.7036A= (p.Ile2346=)
c.7654A= (p.Ile2552=)
c.5830A= (p.Ile1944=)
c.5833A= (p.Ile1945=)
n.1908A=
c.7054A= (p.Ile2352=)
c.6433A= (p.Ile2145=)
c.7153A= (p.Ile2385=)
c.7651A= (p.Ile2551=)
c.5248A= (p.Ile1750=)
2g.237344365G>ACA431710102COL6A3c.298C>T
c.7035C>T (p.Leu2345=)
c.7653C>T (p.Leu2551=)
c.5829C>T (p.Leu1943=)
c.5832C>T (p.Leu1944=)
n.1907C>T
c.7053C>T (p.Leu2351=)
c.6432C>T (p.Leu2144=)
c.7152C>T (p.Leu2384=)
c.7650C>T (p.Leu2550=)
c.5247C>T (p.Leu1749=)
2g.237344365G>CCA431710103COL6A3c.298C>G
c.7035C>G (p.Leu2345=)
c.7653C>G (p.Leu2551=)
c.5829C>G (p.Leu1943=)
c.5832C>G (p.Leu1944=)
n.1907C>G
c.7053C>G (p.Leu2351=)
c.6432C>G (p.Leu2144=)
c.7152C>G (p.Leu2384=)
c.7650C>G (p.Leu2550=)
c.5247C>G (p.Leu1749=)
 dbSNP gnomAD v2 gnomAD v4
2g.237344365G=CA1337610840COL6A3c.298C=
c.7035C= (p.Leu2345=)
c.7653C= (p.Leu2551=)
c.5829C= (p.Leu1943=)
c.5832C= (p.Leu1944=)
n.1907C=
c.7053C= (p.Leu2351=)
c.6432C= (p.Leu2144=)
c.7152C= (p.Leu2384=)
c.7650C= (p.Leu2550=)
c.5247C= (p.Leu1749=)
2g.237344365G>TCA431710104COL6A3c.298C>A
c.7035C>A (p.Leu2345=)
c.7653C>A (p.Leu2551=)
c.5829C>A (p.Leu1943=)
c.5832C>A (p.Leu1944=)
n.1907C>A
c.7053C>A (p.Leu2351=)
c.6432C>A (p.Leu2144=)
c.7152C>A (p.Leu2384=)
c.7650C>A (p.Leu2550=)
c.5247C>A (p.Leu1749=)
 dbSNP gnomAD v2 gnomAD v4
2g.237344366A>CCA351201535COL6A3c.297T>G
c.7034T>G (p.Leu2345Arg)
c.7652T>G (p.Leu2551Arg)
c.5828T>G (p.Leu1943Arg)
c.5831T>G (p.Leu1944Arg)
n.1906T>G
c.7052T>G (p.Leu2351Arg)
c.6431T>G (p.Leu2144Arg)
c.7151T>G (p.Leu2384Arg)
c.7649T>G (p.Leu2550Arg)
c.5246T>G (p.Leu1749Arg)
2g.237344366A>GCA351201537COL6A3c.297T>C
c.7034T>C (p.Leu2345Pro)
c.7652T>C (p.Leu2551Pro)
c.5828T>C (p.Leu1943Pro)
c.5831T>C (p.Leu1944Pro)
n.1906T>C
c.7052T>C (p.Leu2351Pro)
c.6431T>C (p.Leu2144Pro)
c.7151T>C (p.Leu2384Pro)
c.7649T>C (p.Leu2550Pro)
c.5246T>C (p.Leu1749Pro)
2g.237344366A>TCA351201539COL6A3c.297T>A
c.7034T>A (p.Leu2345His)
c.7652T>A (p.Leu2551His)
c.5828T>A (p.Leu1943His)
c.5831T>A (p.Leu1944His)
n.1906T>A
c.7052T>A (p.Leu2351His)
c.6431T>A (p.Leu2144His)
c.7151T>A (p.Leu2384His)
c.7649T>A (p.Leu2550His)
c.5246T>A (p.Leu1749His)
2g.237344366_237344367delinsAGCA1337610841COL6A3c.296_297delinsCT
c.7033_7034delinsCT (p.Leu2345=)
c.7651_7652delinsCT (p.Leu2551=)
c.5827_5828delinsCT (p.Leu1943=)
c.5830_5831delinsCT (p.Leu1944=)
n.1905_1906delinsCT
c.7051_7052delinsCT (p.Leu2351=)
c.6430_6431delinsCT (p.Leu2144=)
c.7150_7151delinsCT (p.Leu2384=)
c.7648_7649delinsCT (p.Leu2550=)
c.5245_5246delinsCT (p.Leu1749=)
2g.237344367delCA2187755COL6A3c.296del
c.7033del (p.Leu2345SerfsTer?)
c.7651del (p.Leu2551SerfsTer?)
c.5827del (p.Leu1943SerfsTer?)
c.5830del (p.Leu1944SerfsTer?)
n.1905del
c.7051del (p.Leu2351SerfsTer?)
c.6430del (p.Leu2144SerfsTer?)
c.7150del (p.Leu2384SerfsTer?)
c.7648del (p.Leu2550SerfsTer?)
c.5245del (p.Leu1749SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344367G>ACA351201541COL6A3c.296C>T
c.7033C>T (p.Leu2345Phe)
c.7651C>T (p.Leu2551Phe)
c.5827C>T (p.Leu1943Phe)
c.5830C>T (p.Leu1944Phe)
n.1905C>T
c.7051C>T (p.Leu2351Phe)
c.6430C>T (p.Leu2144Phe)
c.7150C>T (p.Leu2384Phe)
c.7648C>T (p.Leu2550Phe)
c.5245C>T (p.Leu1749Phe)
2g.237344367G>CCA351201542COL6A3c.296C>G
c.7033C>G (p.Leu2345Val)
c.7651C>G (p.Leu2551Val)
c.5827C>G (p.Leu1943Val)
c.5830C>G (p.Leu1944Val)
n.1905C>G
c.7051C>G (p.Leu2351Val)
c.6430C>G (p.Leu2144Val)
c.7150C>G (p.Leu2384Val)
c.7648C>G (p.Leu2550Val)
c.5245C>G (p.Leu1749Val)
 dbSNP
2g.237344367G=CA1337610842COL6A3c.296C=
c.7033C= (p.Leu2345=)
c.7651C= (p.Leu2551=)
c.5827C= (p.Leu1943=)
c.5830C= (p.Leu1944=)
n.1905C=
c.7051C= (p.Leu2351=)
c.6430C= (p.Leu2144=)
c.7150C= (p.Leu2384=)
c.7648C= (p.Leu2550=)
c.5245C= (p.Leu1749=)
2g.237344367G>TCA351201543COL6A3c.296C>A
c.7033C>A (p.Leu2345Ile)
c.7651C>A (p.Leu2551Ile)
c.5827C>A (p.Leu1943Ile)
c.5830C>A (p.Leu1944Ile)
n.1905C>A
c.7051C>A (p.Leu2351Ile)
c.6430C>A (p.Leu2144Ile)
c.7150C>A (p.Leu2384Ile)
c.7648C>A (p.Leu2550Ile)
c.5245C>A (p.Leu1749Ile)
2g.237344368C>ACA351201545COL6A3c.295G>T
c.7032G>T (p.Gln2344His)
c.7650G>T (p.Gln2550His)
c.5826G>T (p.Gln1942His)
c.5829G>T (p.Gln1943His)
n.1904G>T
c.7050G>T (p.Gln2350His)
c.6429G>T (p.Gln2143His)
c.7149G>T (p.Gln2383His)
c.7647G>T (p.Gln2549His)
c.5244G>T (p.Gln1748His)
 dbSNP gnomAD v3 gnomAD v4
2g.237344368C=CA1337610843COL6A3c.295G=
c.7032G= (p.Gln2344=)
c.7650G= (p.Gln2550=)
c.5826G= (p.Gln1942=)
c.5829G= (p.Gln1943=)
n.1904G=
c.7050G= (p.Gln2350=)
c.6429G= (p.Gln2143=)
c.7149G= (p.Gln2383=)
c.7647G= (p.Gln2549=)
c.5244G= (p.Gln1748=)
2g.237344368C>GCA351201547COL6A3c.295G>C
c.7032G>C (p.Gln2344His)
c.7650G>C (p.Gln2550His)
c.5826G>C (p.Gln1942His)
c.5829G>C (p.Gln1943His)
n.1904G>C
c.7050G>C (p.Gln2350His)
c.6429G>C (p.Gln2143His)
c.7149G>C (p.Gln2383His)
c.7647G>C (p.Gln2549His)
c.5244G>C (p.Gln1748His)
2g.237344368C>TCA431710105COL6A3c.295G>A
c.7032G>A (p.Gln2344=)
c.7650G>A (p.Gln2550=)
c.5826G>A (p.Gln1942=)
c.5829G>A (p.Gln1943=)
n.1904G>A
c.7050G>A (p.Gln2350=)
c.6429G>A (p.Gln2143=)
c.7149G>A (p.Gln2383=)
c.7647G>A (p.Gln2549=)
c.5244G>A (p.Gln1748=)
 ClinVar gnomAD v4
2g.237344373_237344384delCA2663794512COL6A3c.284_295del
c.7021_7032del (p.Glu2341_Gln2344del)
c.7639_7650del (p.Glu2547_Gln2550del)
c.5815_5826del (p.Glu1939_Gln1942del)
c.5818_5829del (p.Glu1940_Gln1943del)
n.1893_1904del
c.7039_7050del (p.Glu2347_Gln2350del)
c.6418_6429del (p.Glu2140_Gln2143del)
c.7138_7149del (p.Glu2380_Gln2383del)
c.7636_7647del (p.Glu2546_Gln2549del)
c.5233_5244del (p.Glu1745_Gln1748del)
 gnomAD v4
2g.237344369T>ACA351201550COL6A3c.294A>T
c.7031A>T (p.Gln2344Leu)
c.7649A>T (p.Gln2550Leu)
c.5825A>T (p.Gln1942Leu)
c.5828A>T (p.Gln1943Leu)
n.1903A>T
c.7049A>T (p.Gln2350Leu)
c.6428A>T (p.Gln2143Leu)
c.7148A>T (p.Gln2383Leu)
c.7646A>T (p.Gln2549Leu)
c.5243A>T (p.Gln1748Leu)
2g.237344369T>CCA351201553COL6A3c.294A>G
c.7031A>G (p.Gln2344Arg)
c.7649A>G (p.Gln2550Arg)
c.5825A>G (p.Gln1942Arg)
c.5828A>G (p.Gln1943Arg)
n.1903A>G
c.7049A>G (p.Gln2350Arg)
c.6428A>G (p.Gln2143Arg)
c.7148A>G (p.Gln2383Arg)
c.7646A>G (p.Gln2549Arg)
c.5243A>G (p.Gln1748Arg)
2g.237344369T>GCA10613193COL6A3c.294A>C
c.7031A>C (p.Gln2344Pro)
c.7649A>C (p.Gln2550Pro)
c.5825A>C (p.Gln1942Pro)
c.5828A>C (p.Gln1943Pro)
n.1903A>C
c.7049A>C (p.Gln2350Pro)
c.6428A>C (p.Gln2143Pro)
c.7148A>C (p.Gln2383Pro)
c.7646A>C (p.Gln2549Pro)
c.5243A>C (p.Gln1748Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237344369T=CA1337610844COL6A3c.294A=
c.7031A= (p.Gln2344=)
c.7649A= (p.Gln2550=)
c.5825A= (p.Gln1942=)
c.5828A= (p.Gln1943=)
n.1903A=
c.7049A= (p.Gln2350=)
c.6428A= (p.Gln2143=)
c.7148A= (p.Gln2383=)
c.7646A= (p.Gln2549=)
c.5243A= (p.Gln1748=)
2g.237344370G>ACA351201560COL6A3c.293C>T
c.7030C>T (p.Gln2344Ter)
c.7648C>T (p.Gln2550Ter)
c.5824C>T (p.Gln1942Ter)
c.5827C>T (p.Gln1943Ter)
n.1902C>T
c.7048C>T (p.Gln2350Ter)
c.6427C>T (p.Gln2143Ter)
c.7147C>T (p.Gln2383Ter)
c.7645C>T (p.Gln2549Ter)
c.5242C>T (p.Gln1748Ter)
 ClinVar dbSNP COSMIC
2g.237344370G>CCA351201562COL6A3c.293C>G
c.7030C>G (p.Gln2344Glu)
c.7648C>G (p.Gln2550Glu)
c.5824C>G (p.Gln1942Glu)
c.5827C>G (p.Gln1943Glu)
n.1902C>G
c.7048C>G (p.Gln2350Glu)
c.6427C>G (p.Gln2143Glu)
c.7147C>G (p.Gln2383Glu)
c.7645C>G (p.Gln2549Glu)
c.5242C>G (p.Gln1748Glu)
 gnomAD v4
2g.237344370G>TCA351201569COL6A3c.293C>A
c.7030C>A (p.Gln2344Lys)
c.7648C>A (p.Gln2550Lys)
c.5824C>A (p.Gln1942Lys)
c.5827C>A (p.Gln1943Lys)
n.1902C>A
c.7048C>A (p.Gln2350Lys)
c.6427C>A (p.Gln2143Lys)
c.7147C>A (p.Gln2383Lys)
c.7645C>A (p.Gln2549Lys)
c.5242C>A (p.Gln1748Lys)
2g.237344371C>ACA431710107COL6A3c.292G>T
c.7029G>T (p.Arg2343=)
c.7647G>T (p.Arg2549=)
c.5823G>T (p.Arg1941=)
c.5826G>T (p.Arg1942=)
n.1901G>T
c.7047G>T (p.Arg2349=)
c.6426G>T (p.Arg2142=)
c.7146G>T (p.Arg2382=)
c.7644G>T (p.Arg2548=)
c.5241G>T (p.Arg1747=)
2g.237344371C=CA1337610845COL6A3c.292G=
c.7029G= (p.Arg2343=)
c.7647G= (p.Arg2549=)
c.5823G= (p.Arg1941=)
c.5826G= (p.Arg1942=)
n.1901G=
c.7047G= (p.Arg2349=)
c.6426G= (p.Arg2142=)
c.7146G= (p.Arg2382=)
c.7644G= (p.Arg2548=)
c.5241G= (p.Arg1747=)
2g.237344371C>GCA431710106COL6A3c.292G>C
c.7029G>C (p.Arg2343=)
c.7647G>C (p.Arg2549=)
c.5823G>C (p.Arg1941=)
c.5826G>C (p.Arg1942=)
n.1901G>C
c.7047G>C (p.Arg2349=)
c.6426G>C (p.Arg2142=)
c.7146G>C (p.Arg2382=)
c.7644G>C (p.Arg2548=)
c.5241G>C (p.Arg1747=)
2g.237344371C>TCA2187756COL6A3c.292G>A
c.7029G>A (p.Arg2343=)
c.7647G>A (p.Arg2549=)
c.5823G>A (p.Arg1941=)
c.5826G>A (p.Arg1942=)
n.1901G>A
c.7047G>A (p.Arg2349=)
c.6426G>A (p.Arg2142=)
c.7146G>A (p.Arg2382=)
c.7644G>A (p.Arg2548=)
c.5241G>A (p.Arg1747=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344372C>ACA351201573COL6A3c.291G>T
c.7028G>T (p.Arg2343Leu)
c.7646G>T (p.Arg2549Leu)
c.5822G>T (p.Arg1941Leu)
c.5825G>T (p.Arg1942Leu)
n.1900G>T
c.7046G>T (p.Arg2349Leu)
c.6425G>T (p.Arg2142Leu)
c.7145G>T (p.Arg2382Leu)
c.7643G>T (p.Arg2548Leu)
c.5240G>T (p.Arg1747Leu)
2g.237344372C=CA1337610846COL6A3c.291G=
c.7028G= (p.Arg2343=)
c.7646G= (p.Arg2549=)
c.5822G= (p.Arg1941=)
c.5825G= (p.Arg1942=)
n.1900G=
c.7046G= (p.Arg2349=)
c.6425G= (p.Arg2142=)
c.7145G= (p.Arg2382=)
c.7643G= (p.Arg2548=)
c.5240G= (p.Arg1747=)
2g.237344372C>GCA351201576COL6A3c.291G>C
c.7028G>C (p.Arg2343Pro)
c.7646G>C (p.Arg2549Pro)
c.5822G>C (p.Arg1941Pro)
c.5825G>C (p.Arg1942Pro)
n.1900G>C
c.7046G>C (p.Arg2349Pro)
c.6425G>C (p.Arg2142Pro)
c.7145G>C (p.Arg2382Pro)
c.7643G>C (p.Arg2548Pro)
c.5240G>C (p.Arg1747Pro)
2g.237344372C>TCA2187757COL6A3c.291G>A
c.7028G>A (p.Arg2343Gln)
c.7646G>A (p.Arg2549Gln)
c.5822G>A (p.Arg1941Gln)
c.5825G>A (p.Arg1942Gln)
n.1900G>A
c.7046G>A (p.Arg2349Gln)
c.6425G>A (p.Arg2142Gln)
c.7145G>A (p.Arg2382Gln)
c.7643G>A (p.Arg2548Gln)
c.5240G>A (p.Arg1747Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344373G>ACA148039COL6A3c.290C>T
c.7027C>T (p.Arg2343Trp)
c.7645C>T (p.Arg2549Trp)
c.5821C>T (p.Arg1941Trp)
c.5824C>T (p.Arg1942Trp)
n.1899C>T
c.7045C>T (p.Arg2349Trp)
c.6424C>T (p.Arg2142Trp)
c.7144C>T (p.Arg2382Trp)
c.7642C>T (p.Arg2548Trp)
c.5239C>T (p.Arg1747Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344373G>CCA351201580COL6A3c.290C>G
c.7027C>G (p.Arg2343Gly)
c.7645C>G (p.Arg2549Gly)
c.5821C>G (p.Arg1941Gly)
c.5824C>G (p.Arg1942Gly)
n.1899C>G
c.7045C>G (p.Arg2349Gly)
c.6424C>G (p.Arg2142Gly)
c.7144C>G (p.Arg2382Gly)
c.7642C>G (p.Arg2548Gly)
c.5239C>G (p.Arg1747Gly)
2g.237344373G=CA1337610847COL6A3c.290C=
c.7027C= (p.Arg2343=)
c.7645C= (p.Arg2549=)
c.5821C= (p.Arg1941=)
c.5824C= (p.Arg1942=)
n.1899C=
c.7045C= (p.Arg2349=)
c.6424C= (p.Arg2142=)
c.7144C= (p.Arg2382=)
c.7642C= (p.Arg2548=)
c.5239C= (p.Arg1747=)
2g.237344373G>TCA2187758COL6A3c.290C>A
c.7027C>A (p.Arg2343=)
c.7645C>A (p.Arg2549=)
c.5821C>A (p.Arg1941=)
c.5824C>A (p.Arg1942=)
n.1899C>A
c.7045C>A (p.Arg2349=)
c.6424C>A (p.Arg2142=)
c.7144C>A (p.Arg2382=)
c.7642C>A (p.Arg2548=)
c.5239C>A (p.Arg1747=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344374G>ACA431710108COL6A3c.289C>T
c.7026C>T (p.Asp2342=)
c.7644C>T (p.Asp2548=)
c.5820C>T (p.Asp1940=)
c.5823C>T (p.Asp1941=)
n.1898C>T
c.7044C>T (p.Asp2348=)
c.6423C>T (p.Asp2141=)
c.7143C>T (p.Asp2381=)
c.7641C>T (p.Asp2547=)
c.5238C>T (p.Asp1746=)
2g.237344374G>CCA351201589COL6A3c.289C>G
c.7026C>G (p.Asp2342Glu)
c.7644C>G (p.Asp2548Glu)
c.5820C>G (p.Asp1940Glu)
c.5823C>G (p.Asp1941Glu)
n.1898C>G
c.7044C>G (p.Asp2348Glu)
c.6423C>G (p.Asp2141Glu)
c.7143C>G (p.Asp2381Glu)
c.7641C>G (p.Asp2547Glu)
c.5238C>G (p.Asp1746Glu)
2g.237344374G>TCA351201592COL6A3c.289C>A
c.7026C>A (p.Asp2342Glu)
c.7644C>A (p.Asp2548Glu)
c.5820C>A (p.Asp1940Glu)
c.5823C>A (p.Asp1941Glu)
n.1898C>A
c.7044C>A (p.Asp2348Glu)
c.6423C>A (p.Asp2141Glu)
c.7143C>A (p.Asp2381Glu)
c.7641C>A (p.Asp2547Glu)
c.5238C>A (p.Asp1746Glu)
2g.237344375T>ACA351201596COL6A3c.288A>T
c.7025A>T (p.Asp2342Val)
c.7643A>T (p.Asp2548Val)
c.5819A>T (p.Asp1940Val)
c.5822A>T (p.Asp1941Val)
n.1897A>T
c.7043A>T (p.Asp2348Val)
c.6422A>T (p.Asp2141Val)
c.7142A>T (p.Asp2381Val)
c.7640A>T (p.Asp2547Val)
c.5237A>T (p.Asp1746Val)
2g.237344375T>CCA351201605COL6A3c.288A>G
c.7025A>G (p.Asp2342Gly)
c.7643A>G (p.Asp2548Gly)
c.5819A>G (p.Asp1940Gly)
c.5822A>G (p.Asp1941Gly)
n.1897A>G
c.7043A>G (p.Asp2348Gly)
c.6422A>G (p.Asp2141Gly)
c.7142A>G (p.Asp2381Gly)
c.7640A>G (p.Asp2547Gly)
c.5237A>G (p.Asp1746Gly)
2g.237344375T>GCA351201598COL6A3c.288A>C
c.7025A>C (p.Asp2342Ala)
c.7643A>C (p.Asp2548Ala)
c.5819A>C (p.Asp1940Ala)
c.5822A>C (p.Asp1941Ala)
n.1897A>C
c.7043A>C (p.Asp2348Ala)
c.6422A>C (p.Asp2141Ala)
c.7142A>C (p.Asp2381Ala)
c.7640A>C (p.Asp2547Ala)
c.5237A>C (p.Asp1746Ala)
2g.237344376C>ACA351201608COL6A3c.287G>T
c.7024G>T (p.Asp2342Tyr)
c.7642G>T (p.Asp2548Tyr)
c.5818G>T (p.Asp1940Tyr)
c.5821G>T (p.Asp1941Tyr)
n.1896G>T
c.7042G>T (p.Asp2348Tyr)
c.6421G>T (p.Asp2141Tyr)
c.7141G>T (p.Asp2381Tyr)
c.7639G>T (p.Asp2547Tyr)
c.5236G>T (p.Asp1746Tyr)
2g.237344376C=CA1337610848COL6A3c.287G=
c.7024G= (p.Asp2342=)
c.7642G= (p.Asp2548=)
c.5818G= (p.Asp1940=)
c.5821G= (p.Asp1941=)
n.1896G=
c.7042G= (p.Asp2348=)
c.6421G= (p.Asp2141=)
c.7141G= (p.Asp2381=)
c.7639G= (p.Asp2547=)
c.5236G= (p.Asp1746=)
2g.237344376C>GCA351201611COL6A3c.287G>C
c.7024G>C (p.Asp2342His)
c.7642G>C (p.Asp2548His)
c.5818G>C (p.Asp1940His)
c.5821G>C (p.Asp1941His)
n.1896G>C
c.7042G>C (p.Asp2348His)
c.6421G>C (p.Asp2141His)
c.7141G>C (p.Asp2381His)
c.7639G>C (p.Asp2547His)
c.5236G>C (p.Asp1746His)
2g.237344376C>TCA2187759COL6A3c.287G>A
c.7024G>A (p.Asp2342Asn)
c.7642G>A (p.Asp2548Asn)
c.5818G>A (p.Asp1940Asn)
c.5821G>A (p.Asp1941Asn)
n.1896G>A
c.7042G>A (p.Asp2348Asn)
c.6421G>A (p.Asp2141Asn)
c.7141G>A (p.Asp2381Asn)
c.7639G>A (p.Asp2547Asn)
c.5236G>A (p.Asp1746Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344377T>ACA351201626COL6A3c.286A>T
c.7023A>T (p.Glu2341Asp)
c.7641A>T (p.Glu2547Asp)
c.5817A>T (p.Glu1939Asp)
c.5820A>T (p.Glu1940Asp)
n.1895A>T
c.7041A>T (p.Glu2347Asp)
c.6420A>T (p.Glu2140Asp)
c.7140A>T (p.Glu2380Asp)
c.7638A>T (p.Glu2546Asp)
c.5235A>T (p.Glu1745Asp)
2g.237344377T>CCA431710109COL6A3c.286A>G
c.7023A>G (p.Glu2341=)
c.7641A>G (p.Glu2547=)
c.5817A>G (p.Glu1939=)
c.5820A>G (p.Glu1940=)
n.1895A>G
c.7041A>G (p.Glu2347=)
c.6420A>G (p.Glu2140=)
c.7140A>G (p.Glu2380=)
c.7638A>G (p.Glu2546=)
c.5235A>G (p.Glu1745=)
2g.237344377T>GCA351201629COL6A3c.286A>C
c.7023A>C (p.Glu2341Asp)
c.7641A>C (p.Glu2547Asp)
c.5817A>C (p.Glu1939Asp)
c.5820A>C (p.Glu1940Asp)
n.1895A>C
c.7041A>C (p.Glu2347Asp)
c.6420A>C (p.Glu2140Asp)
c.7140A>C (p.Glu2380Asp)
c.7638A>C (p.Glu2546Asp)
c.5235A>C (p.Glu1745Asp)
2g.237344377_237344388delCA2663794514COL6A3c.275_286del
c.7012_7023del (p.Thr2338_Glu2341del)
c.7630_7641del (p.Thr2544_Glu2547del)
c.5806_5817del (p.Thr1936_Glu1939del)
c.5809_5820del (p.Thr1937_Glu1940del)
n.1884_1895del
c.7030_7041del (p.Thr2344_Glu2347del)
c.6409_6420del (p.Thr2137_Glu2140del)
c.7129_7140del (p.Thr2377_Glu2380del)
c.7627_7638del (p.Thr2543_Glu2546del)
c.5224_5235del (p.Thr1742_Glu1745del)
 gnomAD v4
2g.237344378T>ACA351201630COL6A3c.285A>T
c.7022A>T (p.Glu2341Val)
c.7640A>T (p.Glu2547Val)
c.5816A>T (p.Glu1939Val)
c.5819A>T (p.Glu1940Val)
n.1894A>T
c.7040A>T (p.Glu2347Val)
c.6419A>T (p.Glu2140Val)
c.7139A>T (p.Glu2380Val)
c.7637A>T (p.Glu2546Val)
c.5234A>T (p.Glu1745Val)
2g.237344378T>CCA351201636COL6A3c.285A>G
c.7022A>G (p.Glu2341Gly)
c.7640A>G (p.Glu2547Gly)
c.5816A>G (p.Glu1939Gly)
c.5819A>G (p.Glu1940Gly)
n.1894A>G
c.7040A>G (p.Glu2347Gly)
c.6419A>G (p.Glu2140Gly)
c.7139A>G (p.Glu2380Gly)
c.7637A>G (p.Glu2546Gly)
c.5234A>G (p.Glu1745Gly)
2g.237344378T>GCA351201639COL6A3c.285A>C
c.7022A>C (p.Glu2341Ala)
c.7640A>C (p.Glu2547Ala)
c.5816A>C (p.Glu1939Ala)
c.5819A>C (p.Glu1940Ala)
n.1894A>C
c.7040A>C (p.Glu2347Ala)
c.6419A>C (p.Glu2140Ala)
c.7139A>C (p.Glu2380Ala)
c.7637A>C (p.Glu2546Ala)
c.5234A>C (p.Glu1745Ala)
2g.237344379C>ACA351201642COL6A3c.284G>T
c.7021G>T (p.Glu2341Ter)
c.7639G>T (p.Glu2547Ter)
c.5815G>T (p.Glu1939Ter)
c.5818G>T (p.Glu1940Ter)
n.1893G>T
c.7039G>T (p.Glu2347Ter)
c.6418G>T (p.Glu2140Ter)
c.7138G>T (p.Glu2380Ter)
c.7636G>T (p.Glu2546Ter)
c.5233G>T (p.Glu1745Ter)
2g.237344379C>GCA351201643COL6A3c.284G>C
c.7021G>C (p.Glu2341Gln)
c.7639G>C (p.Glu2547Gln)
c.5815G>C (p.Glu1939Gln)
c.5818G>C (p.Glu1940Gln)
n.1893G>C
c.7039G>C (p.Glu2347Gln)
c.6418G>C (p.Glu2140Gln)
c.7138G>C (p.Glu2380Gln)
c.7636G>C (p.Glu2546Gln)
c.5233G>C (p.Glu1745Gln)
2g.237344379C>TCA351201646COL6A3c.284G>A
c.7021G>A (p.Glu2341Lys)
c.7639G>A (p.Glu2547Lys)
c.5815G>A (p.Glu1939Lys)
c.5818G>A (p.Glu1940Lys)
n.1893G>A
c.7039G>A (p.Glu2347Lys)
c.6418G>A (p.Glu2140Lys)
c.7138G>A (p.Glu2380Lys)
c.7636G>A (p.Glu2546Lys)
c.5233G>A (p.Glu1745Lys)
2g.237344380C>ACA351201648COL6A3c.283G>T
c.7020G>T (p.Gln2340His)
c.7638G>T (p.Gln2546His)
c.5814G>T (p.Gln1938His)
c.5817G>T (p.Gln1939His)
n.1892G>T
c.7038G>T (p.Gln2346His)
c.6417G>T (p.Gln2139His)
c.7137G>T (p.Gln2379His)
c.7635G>T (p.Gln2545His)
c.5232G>T (p.Gln1744His)
2g.237344380C=CA1337610849COL6A3c.283G=
c.7020G= (p.Gln2340=)
c.7638G= (p.Gln2546=)
c.5814G= (p.Gln1938=)
c.5817G= (p.Gln1939=)
n.1892G=
c.7038G= (p.Gln2346=)
c.6417G= (p.Gln2139=)
c.7137G= (p.Gln2379=)
c.7635G= (p.Gln2545=)
c.5232G= (p.Gln1744=)
2g.237344380C>GCA351201650COL6A3c.283G>C
c.7020G>C (p.Gln2340His)
c.7638G>C (p.Gln2546His)
c.5814G>C (p.Gln1938His)
c.5817G>C (p.Gln1939His)
n.1892G>C
c.7038G>C (p.Gln2346His)
c.6417G>C (p.Gln2139His)
c.7137G>C (p.Gln2379His)
c.7635G>C (p.Gln2545His)
c.5232G>C (p.Gln1744His)
 gnomAD v4
2g.237344380C>TCA431710110COL6A3c.283G>A
c.7020G>A (p.Gln2340=)
c.7638G>A (p.Gln2546=)
c.5814G>A (p.Gln1938=)
c.5817G>A (p.Gln1939=)
n.1892G>A
c.7038G>A (p.Gln2346=)
c.6417G>A (p.Gln2139=)
c.7137G>A (p.Gln2379=)
c.7635G>A (p.Gln2545=)
c.5232G>A (p.Gln1744=)
 dbSNP
2g.237344381T>ACA351201657COL6A3c.282A>T
c.7019A>T (p.Gln2340Leu)
c.7637A>T (p.Gln2546Leu)
c.5813A>T (p.Gln1938Leu)
c.5816A>T (p.Gln1939Leu)
n.1891A>T
c.7037A>T (p.Gln2346Leu)
c.6416A>T (p.Gln2139Leu)
c.7136A>T (p.Gln2379Leu)
c.7634A>T (p.Gln2545Leu)
c.5231A>T (p.Gln1744Leu)
2g.237344381T>CCA351201655COL6A3c.282A>G
c.7019A>G (p.Gln2340Arg)
c.7637A>G (p.Gln2546Arg)
c.5813A>G (p.Gln1938Arg)
c.5816A>G (p.Gln1939Arg)
n.1891A>G
c.7037A>G (p.Gln2346Arg)
c.6416A>G (p.Gln2139Arg)
c.7136A>G (p.Gln2379Arg)
c.7634A>G (p.Gln2545Arg)
c.5231A>G (p.Gln1744Arg)
2g.237344381T>GCA351201653COL6A3c.282A>C
c.7019A>C (p.Gln2340Pro)
c.7637A>C (p.Gln2546Pro)
c.5813A>C (p.Gln1938Pro)
c.5816A>C (p.Gln1939Pro)
n.1891A>C
c.7037A>C (p.Gln2346Pro)
c.6416A>C (p.Gln2139Pro)
c.7136A>C (p.Gln2379Pro)
c.7634A>C (p.Gln2545Pro)
c.5231A>C (p.Gln1744Pro)
 gnomAD v4
2g.237344382G>ACA351201661COL6A3c.281C>T
c.7018C>T (p.Gln2340Ter)
c.7636C>T (p.Gln2546Ter)
c.5812C>T (p.Gln1938Ter)
c.5815C>T (p.Gln1939Ter)
n.1890C>T
c.7036C>T (p.Gln2346Ter)
c.6415C>T (p.Gln2139Ter)
c.7135C>T (p.Gln2379Ter)
c.7633C>T (p.Gln2545Ter)
c.5230C>T (p.Gln1744Ter)
2g.237344382G>CCA351201662COL6A3c.281C>G
c.7018C>G (p.Gln2340Glu)
c.7636C>G (p.Gln2546Glu)
c.5812C>G (p.Gln1938Glu)
c.5815C>G (p.Gln1939Glu)
n.1890C>G
c.7036C>G (p.Gln2346Glu)
c.6415C>G (p.Gln2139Glu)
c.7135C>G (p.Gln2379Glu)
c.7633C>G (p.Gln2545Glu)
c.5230C>G (p.Gln1744Glu)
2g.237344382G>TCA351201665COL6A3c.281C>A
c.7018C>A (p.Gln2340Lys)
c.7636C>A (p.Gln2546Lys)
c.5812C>A (p.Gln1938Lys)
c.5815C>A (p.Gln1939Lys)
n.1890C>A
c.7036C>A (p.Gln2346Lys)
c.6415C>A (p.Gln2139Lys)
c.7135C>A (p.Gln2379Lys)
c.7633C>A (p.Gln2545Lys)
c.5230C>A (p.Gln1744Lys)
2g.237344383C>ACA351201668COL6A3c.280G>T
c.7017G>T (p.Arg2339Ser)
c.7635G>T (p.Arg2545Ser)
c.5811G>T (p.Arg1937Ser)
c.5814G>T (p.Arg1938Ser)
n.1889G>T
c.7035G>T (p.Arg2345Ser)
c.6414G>T (p.Arg2138Ser)
c.7134G>T (p.Arg2378Ser)
c.7632G>T (p.Arg2544Ser)
c.5229G>T (p.Arg1743Ser)
 COSMIC
2g.237344383C>GCA351201669COL6A3c.280G>C
c.7017G>C (p.Arg2339Ser)
c.7635G>C (p.Arg2545Ser)
c.5811G>C (p.Arg1937Ser)
c.5814G>C (p.Arg1938Ser)
n.1889G>C
c.7035G>C (p.Arg2345Ser)
c.6414G>C (p.Arg2138Ser)
c.7134G>C (p.Arg2378Ser)
c.7632G>C (p.Arg2544Ser)
c.5229G>C (p.Arg1743Ser)
2g.237344383C>TCA431710111COL6A3c.280G>A
c.7017G>A (p.Arg2339=)
c.7635G>A (p.Arg2545=)
c.5811G>A (p.Arg1937=)
c.5814G>A (p.Arg1938=)
n.1889G>A
c.7035G>A (p.Arg2345=)
c.6414G>A (p.Arg2138=)
c.7134G>A (p.Arg2378=)
c.7632G>A (p.Arg2544=)
c.5229G>A (p.Arg1743=)
 gnomAD v4
2g.237344384C>ACA351201672COL6A3c.279G>T
c.7016G>T (p.Arg2339Met)
c.7634G>T (p.Arg2545Met)
c.5810G>T (p.Arg1937Met)
c.5813G>T (p.Arg1938Met)
n.1888G>T
c.7034G>T (p.Arg2345Met)
c.6413G>T (p.Arg2138Met)
c.7133G>T (p.Arg2378Met)
c.7631G>T (p.Arg2544Met)
c.5228G>T (p.Arg1743Met)
2g.237344384C>GCA351201674COL6A3c.279G>C
c.7016G>C (p.Arg2339Thr)
c.7634G>C (p.Arg2545Thr)
c.5810G>C (p.Arg1937Thr)
c.5813G>C (p.Arg1938Thr)
n.1888G>C
c.7034G>C (p.Arg2345Thr)
c.6413G>C (p.Arg2138Thr)
c.7133G>C (p.Arg2378Thr)
c.7631G>C (p.Arg2544Thr)
c.5228G>C (p.Arg1743Thr)
2g.237344384C>TCA351201676COL6A3c.279G>A
c.7016G>A (p.Arg2339Lys)
c.7634G>A (p.Arg2545Lys)
c.5810G>A (p.Arg1937Lys)
c.5813G>A (p.Arg1938Lys)
n.1888G>A
c.7034G>A (p.Arg2345Lys)
c.6413G>A (p.Arg2138Lys)
c.7133G>A (p.Arg2378Lys)
c.7631G>A (p.Arg2544Lys)
c.5228G>A (p.Arg1743Lys)
2g.237344385T>ACA351201678COL6A3c.278A>T
c.7015A>T (p.Arg2339Trp)
c.7633A>T (p.Arg2545Trp)
c.5809A>T (p.Arg1937Trp)
c.5812A>T (p.Arg1938Trp)
n.1887A>T
c.7033A>T (p.Arg2345Trp)
c.6412A>T (p.Arg2138Trp)
c.7132A>T (p.Arg2378Trp)
c.7630A>T (p.Arg2544Trp)
c.5227A>T (p.Arg1743Trp)
2g.237344385T>CCA351201681COL6A3c.278A>G
c.7015A>G (p.Arg2339Gly)
c.7633A>G (p.Arg2545Gly)
c.5809A>G (p.Arg1937Gly)
c.5812A>G (p.Arg1938Gly)
n.1887A>G
c.7033A>G (p.Arg2345Gly)
c.6412A>G (p.Arg2138Gly)
c.7132A>G (p.Arg2378Gly)
c.7630A>G (p.Arg2544Gly)
c.5227A>G (p.Arg1743Gly)
 gnomAD v4
2g.237344385T>GCA431710112COL6A3c.278A>C
c.7015A>C (p.Arg2339=)
c.7633A>C (p.Arg2545=)
c.5809A>C (p.Arg1937=)
c.5812A>C (p.Arg1938=)
n.1887A>C
c.7033A>C (p.Arg2345=)
c.6412A>C (p.Arg2138=)
c.7132A>C (p.Arg2378=)
c.7630A>C (p.Arg2544=)
c.5227A>C (p.Arg1743=)
2g.237344386T>ACA431710113COL6A3c.277A>T
c.7014A>T (p.Thr2338=)
c.7632A>T (p.Thr2544=)
c.5808A>T (p.Thr1936=)
c.5811A>T (p.Thr1937=)
n.1886A>T
c.7032A>T (p.Thr2344=)
c.6411A>T (p.Thr2137=)
c.7131A>T (p.Thr2377=)
c.7629A>T (p.Thr2543=)
c.5226A>T (p.Thr1742=)
2g.237344386T>CCA431710114COL6A3c.277A>G
c.7014A>G (p.Thr2338=)
c.7632A>G (p.Thr2544=)
c.5808A>G (p.Thr1936=)
c.5811A>G (p.Thr1937=)
n.1886A>G
c.7032A>G (p.Thr2344=)
c.6411A>G (p.Thr2137=)
c.7131A>G (p.Thr2377=)
c.7629A>G (p.Thr2543=)
c.5226A>G (p.Thr1742=)
2g.237344386T>GCA431710115COL6A3c.277A>C
c.7014A>C (p.Thr2338=)
c.7632A>C (p.Thr2544=)
c.5808A>C (p.Thr1936=)
c.5811A>C (p.Thr1937=)
n.1886A>C
c.7032A>C (p.Thr2344=)
c.6411A>C (p.Thr2137=)
c.7131A>C (p.Thr2377=)
c.7629A>C (p.Thr2543=)
c.5226A>C (p.Thr1742=)
2g.237344387G>ACA351201684COL6A3c.276C>T
c.7013C>T (p.Thr2338Ile)
c.7631C>T (p.Thr2544Ile)
c.5807C>T (p.Thr1936Ile)
c.5810C>T (p.Thr1937Ile)
n.1885C>T
c.7031C>T (p.Thr2344Ile)
c.6410C>T (p.Thr2137Ile)
c.7130C>T (p.Thr2377Ile)
c.7628C>T (p.Thr2543Ile)
c.5225C>T (p.Thr1742Ile)
 dbSNP gnomAD v4
2g.237344387G>CCA351201686COL6A3c.276C>G
c.7013C>G (p.Thr2338Arg)
c.7631C>G (p.Thr2544Arg)
c.5807C>G (p.Thr1936Arg)
c.5810C>G (p.Thr1937Arg)
n.1885C>G
c.7031C>G (p.Thr2344Arg)
c.6410C>G (p.Thr2137Arg)
c.7130C>G (p.Thr2377Arg)
c.7628C>G (p.Thr2543Arg)
c.5225C>G (p.Thr1742Arg)
2g.237344387G=CA1337610850COL6A3c.276C=
c.7013C= (p.Thr2338=)
c.7631C= (p.Thr2544=)
c.5807C= (p.Thr1936=)
c.5810C= (p.Thr1937=)
n.1885C=
c.7031C= (p.Thr2344=)
c.6410C= (p.Thr2137=)
c.7130C= (p.Thr2377=)
c.7628C= (p.Thr2543=)
c.5225C= (p.Thr1742=)
2g.237344387G>TCA351201691COL6A3c.276C>A
c.7013C>A (p.Thr2338Lys)
c.7631C>A (p.Thr2544Lys)
c.5807C>A (p.Thr1936Lys)
c.5810C>A (p.Thr1937Lys)
n.1885C>A
c.7031C>A (p.Thr2344Lys)
c.6410C>A (p.Thr2137Lys)
c.7130C>A (p.Thr2377Lys)
c.7628C>A (p.Thr2543Lys)
c.5225C>A (p.Thr1742Lys)
 gnomAD v4
2g.237344388T>ACA351201695COL6A3c.275A>T
c.7012A>T (p.Thr2338Ser)
c.7630A>T (p.Thr2544Ser)
c.5806A>T (p.Thr1936Ser)
c.5809A>T (p.Thr1937Ser)
n.1884A>T
c.7030A>T (p.Thr2344Ser)
c.6409A>T (p.Thr2137Ser)
c.7129A>T (p.Thr2377Ser)
c.7627A>T (p.Thr2543Ser)
c.5224A>T (p.Thr1742Ser)
2g.237344388T>CCA351201696COL6A3c.275A>G
c.7012A>G (p.Thr2338Ala)
c.7630A>G (p.Thr2544Ala)
c.5806A>G (p.Thr1936Ala)
c.5809A>G (p.Thr1937Ala)
n.1884A>G
c.7030A>G (p.Thr2344Ala)
c.6409A>G (p.Thr2137Ala)
c.7129A>G (p.Thr2377Ala)
c.7627A>G (p.Thr2543Ala)
c.5224A>G (p.Thr1742Ala)
2g.237344388T>GCA351201693COL6A3c.275A>C
c.7012A>C (p.Thr2338Pro)
c.7630A>C (p.Thr2544Pro)
c.5806A>C (p.Thr1936Pro)
c.5809A>C (p.Thr1937Pro)
n.1884A>C
c.7030A>C (p.Thr2344Pro)
c.6409A>C (p.Thr2137Pro)
c.7129A>C (p.Thr2377Pro)
c.7627A>C (p.Thr2543Pro)
c.5224A>C (p.Thr1742Pro)
2g.237344389A>CCA431710271COL6A3c.274T>G
c.7011T>G (p.Leu2337=)
c.7629T>G (p.Leu2543=)
c.5805T>G (p.Leu1935=)
c.5808T>G (p.Leu1936=)
n.1883T>G
c.7029T>G (p.Leu2343=)
c.6408T>G (p.Leu2136=)
c.7128T>G (p.Leu2376=)
c.7626T>G (p.Leu2542=)
c.5223T>G (p.Leu1741=)
2g.237344389A>GCA431710272COL6A3c.274T>C
c.7011T>C (p.Leu2337=)
c.7629T>C (p.Leu2543=)
c.5805T>C (p.Leu1935=)
c.5808T>C (p.Leu1936=)
n.1883T>C
c.7029T>C (p.Leu2343=)
c.6408T>C (p.Leu2136=)
c.7128T>C (p.Leu2376=)
c.7626T>C (p.Leu2542=)
c.5223T>C (p.Leu1741=)
2g.237344389A>TCA431710273COL6A3c.274T>A
c.7011T>A (p.Leu2337=)
c.7629T>A (p.Leu2543=)
c.5805T>A (p.Leu1935=)
c.5808T>A (p.Leu1936=)
n.1883T>A
c.7029T>A (p.Leu2343=)
c.6408T>A (p.Leu2136=)
c.7128T>A (p.Leu2376=)
c.7626T>A (p.Leu2542=)
c.5223T>A (p.Leu1741=)
2g.237344390A>CCA351201697COL6A3c.273T>G
c.7010T>G (p.Leu2337Arg)
c.7628T>G (p.Leu2543Arg)
c.5804T>G (p.Leu1935Arg)
c.5807T>G (p.Leu1936Arg)
n.1882T>G
c.7028T>G (p.Leu2343Arg)
c.6407T>G (p.Leu2136Arg)
c.7127T>G (p.Leu2376Arg)
c.7625T>G (p.Leu2542Arg)
c.5222T>G (p.Leu1741Arg)
2g.237344390A>GCA351201699COL6A3c.273T>C
c.7010T>C (p.Leu2337Pro)
c.7628T>C (p.Leu2543Pro)
c.5804T>C (p.Leu1935Pro)
c.5807T>C (p.Leu1936Pro)
n.1882T>C
c.7028T>C (p.Leu2343Pro)
c.6407T>C (p.Leu2136Pro)
c.7127T>C (p.Leu2376Pro)
c.7625T>C (p.Leu2542Pro)
c.5222T>C (p.Leu1741Pro)
2g.237344390A>TCA351201703COL6A3c.273T>A
c.7010T>A (p.Leu2337His)
c.7628T>A (p.Leu2543His)
c.5804T>A (p.Leu1935His)
c.5807T>A (p.Leu1936His)
n.1882T>A
c.7028T>A (p.Leu2343His)
c.6407T>A (p.Leu2136His)
c.7127T>A (p.Leu2376His)
c.7625T>A (p.Leu2542His)
c.5222T>A (p.Leu1741His)
2g.237344391G>ACA351201706COL6A3c.272C>T
c.7009C>T (p.Leu2337Phe)
c.7627C>T (p.Leu2543Phe)
c.5803C>T (p.Leu1935Phe)
c.5806C>T (p.Leu1936Phe)
n.1881C>T
c.7027C>T (p.Leu2343Phe)
c.6406C>T (p.Leu2136Phe)
c.7126C>T (p.Leu2376Phe)
c.7624C>T (p.Leu2542Phe)
c.5221C>T (p.Leu1741Phe)
2g.237344391G>CCA351201708COL6A3c.272C>G
c.7009C>G (p.Leu2337Val)
c.7627C>G (p.Leu2543Val)
c.5803C>G (p.Leu1935Val)
c.5806C>G (p.Leu1936Val)
n.1881C>G
c.7027C>G (p.Leu2343Val)
c.6406C>G (p.Leu2136Val)
c.7126C>G (p.Leu2376Val)
c.7624C>G (p.Leu2542Val)
c.5221C>G (p.Leu1741Val)
2g.237344391G>TCA351201710COL6A3c.272C>A
c.7009C>A (p.Leu2337Ile)
c.7627C>A (p.Leu2543Ile)
c.5803C>A (p.Leu1935Ile)
c.5806C>A (p.Leu1936Ile)
n.1881C>A
c.7027C>A (p.Leu2343Ile)
c.6406C>A (p.Leu2136Ile)
c.7126C>A (p.Leu2376Ile)
c.7624C>A (p.Leu2542Ile)
c.5221C>A (p.Leu1741Ile)
2g.237344392G>ACA2187760COL6A3c.271C>T
c.7008C>T (p.Phe2336=)
c.7626C>T (p.Phe2542=)
c.5802C>T (p.Phe1934=)
c.5805C>T (p.Phe1935=)
n.1880C>T
c.7026C>T (p.Phe2342=)
c.6405C>T (p.Phe2135=)
c.7125C>T (p.Phe2375=)
c.7623C>T (p.Phe2541=)
c.5220C>T (p.Phe1740=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.237344392G>CCA351201715COL6A3c.271C>G
c.7008C>G (p.Phe2336Leu)
c.7626C>G (p.Phe2542Leu)
c.5802C>G (p.Phe1934Leu)
c.5805C>G (p.Phe1935Leu)
n.1880C>G
c.7026C>G (p.Phe2342Leu)
c.6405C>G (p.Phe2135Leu)
c.7125C>G (p.Phe2375Leu)
c.7623C>G (p.Phe2541Leu)
c.5220C>G (p.Phe1740Leu)
2g.237344392G=CA1337610851COL6A3c.271C=
c.7008C= (p.Phe2336=)
c.7626C= (p.Phe2542=)
c.5802C= (p.Phe1934=)
c.5805C= (p.Phe1935=)
n.1880C=
c.7026C= (p.Phe2342=)
c.6405C= (p.Phe2135=)
c.7125C= (p.Phe2375=)
c.7623C= (p.Phe2541=)
c.5220C= (p.Phe1740=)
2g.237344392G>TCA351201719COL6A3c.271C>A
c.7008C>A (p.Phe2336Leu)
c.7626C>A (p.Phe2542Leu)
c.5802C>A (p.Phe1934Leu)
c.5805C>A (p.Phe1935Leu)
n.1880C>A
c.7026C>A (p.Phe2342Leu)
c.6405C>A (p.Phe2135Leu)
c.7125C>A (p.Phe2375Leu)
c.7623C>A (p.Phe2541Leu)
c.5220C>A (p.Phe1740Leu)
 ClinVar dbSNP gnomAD v4
2g.237344393A>CCA351201725COL6A3c.270T>G
c.7007T>G (p.Phe2336Cys)
c.7625T>G (p.Phe2542Cys)
c.5801T>G (p.Phe1934Cys)
c.5804T>G (p.Phe1935Cys)
n.1879T>G
c.7025T>G (p.Phe2342Cys)
c.6404T>G (p.Phe2135Cys)
c.7124T>G (p.Phe2375Cys)
c.7622T>G (p.Phe2541Cys)
c.5219T>G (p.Phe1740Cys)
2g.237344393A>GCA351201727COL6A3c.270T>C
c.7007T>C (p.Phe2336Ser)
c.7625T>C (p.Phe2542Ser)
c.5801T>C (p.Phe1934Ser)
c.5804T>C (p.Phe1935Ser)
n.1879T>C
c.7025T>C (p.Phe2342Ser)
c.6404T>C (p.Phe2135Ser)
c.7124T>C (p.Phe2375Ser)
c.7622T>C (p.Phe2541Ser)
c.5219T>C (p.Phe1740Ser)
2g.237344393A>TCA351201732COL6A3c.270T>A
c.7007T>A (p.Phe2336Tyr)
c.7625T>A (p.Phe2542Tyr)
c.5801T>A (p.Phe1934Tyr)
c.5804T>A (p.Phe1935Tyr)
n.1879T>A
c.7025T>A (p.Phe2342Tyr)
c.6404T>A (p.Phe2135Tyr)
c.7124T>A (p.Phe2375Tyr)
c.7622T>A (p.Phe2541Tyr)
c.5219T>A (p.Phe1740Tyr)
2g.237344394A>CCA351201737COL6A3c.269T>G
c.7006T>G (p.Phe2336Val)
c.7624T>G (p.Phe2542Val)
c.5800T>G (p.Phe1934Val)
c.5803T>G (p.Phe1935Val)
n.1878T>G
c.7024T>G (p.Phe2342Val)
c.6403T>G (p.Phe2135Val)
c.7123T>G (p.Phe2375Val)
c.7621T>G (p.Phe2541Val)
c.5218T>G (p.Phe1740Val)
2g.237344394A>GCA351201734COL6A3c.269T>C
c.7006T>C (p.Phe2336Leu)
c.7624T>C (p.Phe2542Leu)
c.5800T>C (p.Phe1934Leu)
c.5803T>C (p.Phe1935Leu)
n.1878T>C
c.7024T>C (p.Phe2342Leu)
c.6403T>C (p.Phe2135Leu)
c.7123T>C (p.Phe2375Leu)
c.7621T>C (p.Phe2541Leu)
c.5218T>C (p.Phe1740Leu)
2g.237344394A>TCA351201736COL6A3c.269T>A
c.7006T>A (p.Phe2336Ile)
c.7624T>A (p.Phe2542Ile)
c.5800T>A (p.Phe1934Ile)
c.5803T>A (p.Phe1935Ile)
n.1878T>A
c.7024T>A (p.Phe2342Ile)
c.6403T>A (p.Phe2135Ile)
c.7123T>A (p.Phe2375Ile)
c.7621T>A (p.Phe2541Ile)
c.5218T>A (p.Phe1740Ile)
2g.237344395C>ACA351201738COL6A3c.268G>T
c.7005G>T (p.Leu2335Phe)
c.7623G>T (p.Leu2541Phe)
c.5799G>T (p.Leu1933Phe)
c.5802G>T (p.Leu1934Phe)
n.1877G>T
c.7023G>T (p.Leu2341Phe)
c.6402G>T (p.Leu2134Phe)
c.7122G>T (p.Leu2374Phe)
c.7620G>T (p.Leu2540Phe)
c.5217G>T (p.Leu1739Phe)
 gnomAD v4
2g.237344395C=CA1337610852COL6A3c.268G=
c.7005G= (p.Leu2335=)
c.7623G= (p.Leu2541=)
c.5799G= (p.Leu1933=)
c.5802G= (p.Leu1934=)
n.1877G=
c.7023G= (p.Leu2341=)
c.6402G= (p.Leu2134=)
c.7122G= (p.Leu2374=)
c.7620G= (p.Leu2540=)
c.5217G= (p.Leu1739=)
2g.237344395C>GCA2187761COL6A3c.268G>C
c.7005G>C (p.Leu2335Phe)
c.7623G>C (p.Leu2541Phe)
c.5799G>C (p.Leu1933Phe)
c.5802G>C (p.Leu1934Phe)
n.1877G>C
c.7023G>C (p.Leu2341Phe)
c.6402G>C (p.Leu2134Phe)
c.7122G>C (p.Leu2374Phe)
c.7620G>C (p.Leu2540Phe)
c.5217G>C (p.Leu1739Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344395C>TCA431710274COL6A3c.268G>A
c.7005G>A (p.Leu2335=)
c.7623G>A (p.Leu2541=)
c.5799G>A (p.Leu1933=)
c.5802G>A (p.Leu1934=)
n.1877G>A
c.7023G>A (p.Leu2341=)
c.6402G>A (p.Leu2134=)
c.7122G>A (p.Leu2374=)
c.7620G>A (p.Leu2540=)
c.5217G>A (p.Leu1739=)
 gnomAD v4
2g.237344396A>CCA351201743COL6A3c.267T>G
c.7004T>G (p.Leu2335Trp)
c.7622T>G (p.Leu2541Trp)
c.5798T>G (p.Leu1933Trp)
c.5801T>G (p.Leu1934Trp)
n.1876T>G
c.7022T>G (p.Leu2341Trp)
c.6401T>G (p.Leu2134Trp)
c.7121T>G (p.Leu2374Trp)
c.7619T>G (p.Leu2540Trp)
c.5216T>G (p.Leu1739Trp)
2g.237344396A>GCA351201746COL6A3c.267T>C
c.7004T>C (p.Leu2335Ser)
c.7622T>C (p.Leu2541Ser)
c.5798T>C (p.Leu1933Ser)
c.5801T>C (p.Leu1934Ser)
n.1876T>C
c.7022T>C (p.Leu2341Ser)
c.6401T>C (p.Leu2134Ser)
c.7121T>C (p.Leu2374Ser)
c.7619T>C (p.Leu2540Ser)
c.5216T>C (p.Leu1739Ser)
 gnomAD v4
2g.237344396A>TCA351201747COL6A3c.267T>A
c.7004T>A (p.Leu2335Ter)
c.7622T>A (p.Leu2541Ter)
c.5798T>A (p.Leu1933Ter)
c.5801T>A (p.Leu1934Ter)
n.1876T>A
c.7022T>A (p.Leu2341Ter)
c.6401T>A (p.Leu2134Ter)
c.7121T>A (p.Leu2374Ter)
c.7619T>A (p.Leu2540Ter)
c.5216T>A (p.Leu1739Ter)
2g.237344397A>CCA351201748COL6A3c.266T>G
c.7003T>G (p.Leu2335Val)
c.7621T>G (p.Leu2541Val)
c.5797T>G (p.Leu1933Val)
c.5800T>G (p.Leu1934Val)
n.1875T>G
c.7021T>G (p.Leu2341Val)
c.6400T>G (p.Leu2134Val)
c.7120T>G (p.Leu2374Val)
c.7618T>G (p.Leu2540Val)
c.5215T>G (p.Leu1739Val)
2g.237344397A>GCA431710275COL6A3c.266T>C
c.7003T>C (p.Leu2335=)
c.7621T>C (p.Leu2541=)
c.5797T>C (p.Leu1933=)
c.5800T>C (p.Leu1934=)
n.1875T>C
c.7021T>C (p.Leu2341=)
c.6400T>C (p.Leu2134=)
c.7120T>C (p.Leu2374=)
c.7618T>C (p.Leu2540=)
c.5215T>C (p.Leu1739=)
 gnomAD v4
2g.237344397A>TCA351201750COL6A3c.266T>A
c.7003T>A (p.Leu2335Met)
c.7621T>A (p.Leu2541Met)
c.5797T>A (p.Leu1933Met)
c.5800T>A (p.Leu1934Met)
n.1875T>A
c.7021T>A (p.Leu2341Met)
c.6400T>A (p.Leu2134Met)
c.7120T>A (p.Leu2374Met)
c.7618T>A (p.Leu2540Met)
c.5215T>A (p.Leu1739Met)
2g.237344397_237344398delinsAGCA1337610853COL6A3c.265_266delinsCT
c.7002_7003delinsCT (p.Pro2334=)
c.7620_7621delinsCT (p.Pro2540=)
c.5796_5797delinsCT (p.Pro1932=)
c.5799_5800delinsCT (p.Pro1933=)
n.1874_1875delinsCT
c.7020_7021delinsCT (p.Pro2340=)
c.6399_6400delinsCT (p.Pro2133=)
c.7119_7120delinsCT (p.Pro2373=)
c.7617_7618delinsCT (p.Pro2539=)
c.5214_5215delinsCT (p.Pro1738=)
2g.237344398G>ACA431710276COL6A3c.265C>T
c.7002C>T (p.Pro2334=)
c.7620C>T (p.Pro2540=)
c.5796C>T (p.Pro1932=)
c.5799C>T (p.Pro1933=)
n.1874C>T
c.7020C>T (p.Pro2340=)
c.6399C>T (p.Pro2133=)
c.7119C>T (p.Pro2373=)
c.7617C>T (p.Pro2539=)
c.5214C>T (p.Pro1738=)
2g.237344398G>CCA431710277COL6A3c.265C>G
c.7002C>G (p.Pro2334=)
c.7620C>G (p.Pro2540=)
c.5796C>G (p.Pro1932=)
c.5799C>G (p.Pro1933=)
n.1874C>G
c.7020C>G (p.Pro2340=)
c.6399C>G (p.Pro2133=)
c.7119C>G (p.Pro2373=)
c.7617C>G (p.Pro2539=)
c.5214C>G (p.Pro1738=)
2g.237344398G>TCA431710278COL6A3c.265C>A
c.7002C>A (p.Pro2334=)
c.7620C>A (p.Pro2540=)
c.5796C>A (p.Pro1932=)
c.5799C>A (p.Pro1933=)
n.1874C>A
c.7020C>A (p.Pro2340=)
c.6399C>A (p.Pro2133=)
c.7119C>A (p.Pro2373=)
c.7617C>A (p.Pro2539=)
c.5214C>A (p.Pro1738=)
2g.237344402delCA2187762COL6A3c.265del
c.7002del (p.Leu2335CysfsTer?)
c.7620del (p.Leu2541CysfsTer?)
c.5796del (p.Leu1933CysfsTer?)
c.5799del (p.Leu1934CysfsTer?)
n.1874del
c.7020del (p.Leu2341CysfsTer?)
c.6399del (p.Leu2134CysfsTer?)
c.7119del (p.Leu2374CysfsTer?)
c.7617del (p.Leu2540CysfsTer?)
c.5214del (p.Leu1739CysfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344399G>ACA2187763COL6A3c.264C>T
c.7001C>T (p.Pro2334Leu)
c.7619C>T (p.Pro2540Leu)
c.5795C>T (p.Pro1932Leu)
c.5798C>T (p.Pro1933Leu)
n.1873C>T
c.7019C>T (p.Pro2340Leu)
c.6398C>T (p.Pro2133Leu)
c.7118C>T (p.Pro2373Leu)
c.7616C>T (p.Pro2539Leu)
c.5213C>T (p.Pro1738Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344399G>CCA351201755COL6A3c.264C>G
c.7001C>G (p.Pro2334Arg)
c.7619C>G (p.Pro2540Arg)
c.5795C>G (p.Pro1932Arg)
c.5798C>G (p.Pro1933Arg)
n.1873C>G
c.7019C>G (p.Pro2340Arg)
c.6398C>G (p.Pro2133Arg)
c.7118C>G (p.Pro2373Arg)
c.7616C>G (p.Pro2539Arg)
c.5213C>G (p.Pro1738Arg)
2g.237344399G=CA1337610854COL6A3c.264C=
c.7001C= (p.Pro2334=)
c.7619C= (p.Pro2540=)
c.5795C= (p.Pro1932=)
c.5798C= (p.Pro1933=)
n.1873C=
c.7019C= (p.Pro2340=)
c.6398C= (p.Pro2133=)
c.7118C= (p.Pro2373=)
c.7616C= (p.Pro2539=)
c.5213C= (p.Pro1738=)
2g.237344399G>TCA351201756COL6A3c.264C>A
c.7001C>A (p.Pro2334His)
c.7619C>A (p.Pro2540His)
c.5795C>A (p.Pro1932His)
c.5798C>A (p.Pro1933His)
n.1873C>A
c.7019C>A (p.Pro2340His)
c.6398C>A (p.Pro2133His)
c.7118C>A (p.Pro2373His)
c.7616C>A (p.Pro2539His)
c.5213C>A (p.Pro1738His)
2g.237344400G>ACA351201760COL6A3c.263C>T
c.7000C>T (p.Pro2334Ser)
c.7618C>T (p.Pro2540Ser)
c.5794C>T (p.Pro1932Ser)
c.5797C>T (p.Pro1933Ser)
n.1872C>T
c.7018C>T (p.Pro2340Ser)
c.6397C>T (p.Pro2133Ser)
c.7117C>T (p.Pro2373Ser)
c.7615C>T (p.Pro2539Ser)
c.5212C>T (p.Pro1738Ser)
 dbSNP gnomAD v2
2g.237344400G>CCA351201758COL6A3c.263C>G
c.7000C>G (p.Pro2334Ala)
c.7618C>G (p.Pro2540Ala)
c.5794C>G (p.Pro1932Ala)
c.5797C>G (p.Pro1933Ala)
n.1872C>G
c.7018C>G (p.Pro2340Ala)
c.6397C>G (p.Pro2133Ala)
c.7117C>G (p.Pro2373Ala)
c.7615C>G (p.Pro2539Ala)
c.5212C>G (p.Pro1738Ala)
2g.237344400G=CA1337610855COL6A3c.263C=
c.7000C= (p.Pro2334=)
c.7618C= (p.Pro2540=)
c.5794C= (p.Pro1932=)
c.5797C= (p.Pro1933=)
n.1872C=
c.7018C= (p.Pro2340=)
c.6397C= (p.Pro2133=)
c.7117C= (p.Pro2373=)
c.7615C= (p.Pro2539=)
c.5212C= (p.Pro1738=)
2g.237344400G>TCA351201757COL6A3c.263C>A
c.7000C>A (p.Pro2334Thr)
c.7618C>A (p.Pro2540Thr)
c.5794C>A (p.Pro1932Thr)
c.5797C>A (p.Pro1933Thr)
n.1872C>A
c.7018C>A (p.Pro2340Thr)
c.6397C>A (p.Pro2133Thr)
c.7117C>A (p.Pro2373Thr)
c.7615C>A (p.Pro2539Thr)
c.5212C>A (p.Pro1738Thr)
2g.237344401G>ACA431710279COL6A3c.262C>T
c.6999C>T (p.Thr2333=)
c.7617C>T (p.Thr2539=)
c.5793C>T (p.Thr1931=)
c.5796C>T (p.Thr1932=)
n.1871C>T
c.7017C>T (p.Thr2339=)
c.6396C>T (p.Thr2132=)
c.7116C>T (p.Thr2372=)
c.7614C>T (p.Thr2538=)
c.5211C>T (p.Thr1737=)
2g.237344401G>CCA431710280COL6A3c.262C>G
c.6999C>G (p.Thr2333=)
c.7617C>G (p.Thr2539=)
c.5793C>G (p.Thr1931=)
c.5796C>G (p.Thr1932=)
n.1871C>G
c.7017C>G (p.Thr2339=)
c.6396C>G (p.Thr2132=)
c.7116C>G (p.Thr2372=)
c.7614C>G (p.Thr2538=)
c.5211C>G (p.Thr1737=)
2g.237344401G>TCA431710281COL6A3c.262C>A
c.6999C>A (p.Thr2333=)
c.7617C>A (p.Thr2539=)
c.5793C>A (p.Thr1931=)
c.5796C>A (p.Thr1932=)
n.1871C>A
c.7017C>A (p.Thr2339=)
c.6396C>A (p.Thr2132=)
c.7116C>A (p.Thr2372=)
c.7614C>A (p.Thr2538=)
c.5211C>A (p.Thr1737=)
2g.237344402G>ACA351201763COL6A3c.261C>T
c.6998C>T (p.Thr2333Ile)
c.7616C>T (p.Thr2539Ile)
c.5792C>T (p.Thr1931Ile)
c.5795C>T (p.Thr1932Ile)
n.1870C>T
c.7016C>T (p.Thr2339Ile)
c.6395C>T (p.Thr2132Ile)
c.7115C>T (p.Thr2372Ile)
c.7613C>T (p.Thr2538Ile)
c.5210C>T (p.Thr1737Ile)
 ClinVar dbSNP
2g.237344402G>CCA351201768COL6A3c.261C>G
c.6998C>G (p.Thr2333Ser)
c.7616C>G (p.Thr2539Ser)
c.5792C>G (p.Thr1931Ser)
c.5795C>G (p.Thr1932Ser)
n.1870C>G
c.7016C>G (p.Thr2339Ser)
c.6395C>G (p.Thr2132Ser)
c.7115C>G (p.Thr2372Ser)
c.7613C>G (p.Thr2538Ser)
c.5210C>G (p.Thr1737Ser)
2g.237344402G=CA1337610856COL6A3c.261C=
c.6998C= (p.Thr2333=)
c.7616C= (p.Thr2539=)
c.5792C= (p.Thr1931=)
c.5795C= (p.Thr1932=)
n.1870C=
c.7016C= (p.Thr2339=)
c.6395C= (p.Thr2132=)
c.7115C= (p.Thr2372=)
c.7613C= (p.Thr2538=)
c.5210C= (p.Thr1737=)
2g.237344402G>TCA351201766COL6A3c.261C>A
c.6998C>A (p.Thr2333Asn)
c.7616C>A (p.Thr2539Asn)
c.5792C>A (p.Thr1931Asn)
c.5795C>A (p.Thr1932Asn)
n.1870C>A
c.7016C>A (p.Thr2339Asn)
c.6395C>A (p.Thr2132Asn)
c.7115C>A (p.Thr2372Asn)
c.7613C>A (p.Thr2538Asn)
c.5210C>A (p.Thr1737Asn)
2g.237344403T>ACA351201769COL6A3c.260A>T
c.6997A>T (p.Thr2333Ser)
c.7615A>T (p.Thr2539Ser)
c.5791A>T (p.Thr1931Ser)
c.5794A>T (p.Thr1932Ser)
n.1869A>T
c.7015A>T (p.Thr2339Ser)
c.6394A>T (p.Thr2132Ser)
c.7114A>T (p.Thr2372Ser)
c.7612A>T (p.Thr2538Ser)
c.5209A>T (p.Thr1737Ser)
2g.237344403T>CCA351201770COL6A3c.260A>G
c.6997A>G (p.Thr2333Ala)
c.7615A>G (p.Thr2539Ala)
c.5791A>G (p.Thr1931Ala)
c.5794A>G (p.Thr1932Ala)
n.1869A>G
c.7015A>G (p.Thr2339Ala)
c.6394A>G (p.Thr2132Ala)
c.7114A>G (p.Thr2372Ala)
c.7612A>G (p.Thr2538Ala)
c.5209A>G (p.Thr1737Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.237344403T>GCA351201771COL6A3c.260A>C
c.6997A>C (p.Thr2333Pro)
c.7615A>C (p.Thr2539Pro)
c.5791A>C (p.Thr1931Pro)
c.5794A>C (p.Thr1932Pro)
n.1869A>C
c.7015A>C (p.Thr2339Pro)
c.6394A>C (p.Thr2132Pro)
c.7114A>C (p.Thr2372Pro)
c.7612A>C (p.Thr2538Pro)
c.5209A>C (p.Thr1737Pro)
2g.237344403T=CA1337610857COL6A3c.260A=
c.6997A= (p.Thr2333=)
c.7615A= (p.Thr2539=)
c.5791A= (p.Thr1931=)
c.5794A= (p.Thr1932=)
n.1869A=
c.7015A= (p.Thr2339=)
c.6394A= (p.Thr2132=)
c.7114A= (p.Thr2372=)
c.7612A= (p.Thr2538=)
c.5209A= (p.Thr1737=)
2g.237344404G>ACA431710283COL6A3c.259C>T
c.6996C>T (p.Ile2332=)
c.7614C>T (p.Ile2538=)
c.5790C>T (p.Ile1930=)
c.5793C>T (p.Ile1931=)
n.1868C>T
c.7014C>T (p.Ile2338=)
c.6393C>T (p.Ile2131=)
c.7113C>T (p.Ile2371=)
c.7611C>T (p.Ile2537=)
c.5208C>T (p.Ile1736=)
2g.237344404G>CCA351201774COL6A3c.259C>G
c.6996C>G (p.Ile2332Met)
c.7614C>G (p.Ile2538Met)
c.5790C>G (p.Ile1930Met)
c.5793C>G (p.Ile1931Met)
n.1868C>G
c.7014C>G (p.Ile2338Met)
c.6393C>G (p.Ile2131Met)
c.7113C>G (p.Ile2371Met)
c.7611C>G (p.Ile2537Met)
c.5208C>G (p.Ile1736Met)
2g.237344404G>TCA431710282COL6A3c.259C>A
c.6996C>A (p.Ile2332=)
c.7614C>A (p.Ile2538=)
c.5790C>A (p.Ile1930=)
c.5793C>A (p.Ile1931=)
n.1868C>A
c.7014C>A (p.Ile2338=)
c.6393C>A (p.Ile2131=)
c.7113C>A (p.Ile2371=)
c.7611C>A (p.Ile2537=)
c.5208C>A (p.Ile1736=)
2g.237344405A>CCA351201777COL6A3c.258T>G
c.6995T>G (p.Ile2332Ser)
c.7613T>G (p.Ile2538Ser)
c.5789T>G (p.Ile1930Ser)
c.5792T>G (p.Ile1931Ser)
n.1867T>G
c.7013T>G (p.Ile2338Ser)
c.6392T>G (p.Ile2131Ser)
c.7112T>G (p.Ile2371Ser)
c.7610T>G (p.Ile2537Ser)
c.5207T>G (p.Ile1736Ser)
2g.237344405A>GCA351201778COL6A3c.258T>C
c.6995T>C (p.Ile2332Thr)
c.7613T>C (p.Ile2538Thr)
c.5789T>C (p.Ile1930Thr)
c.5792T>C (p.Ile1931Thr)
n.1867T>C
c.7013T>C (p.Ile2338Thr)
c.6392T>C (p.Ile2131Thr)
c.7112T>C (p.Ile2371Thr)
c.7610T>C (p.Ile2537Thr)
c.5207T>C (p.Ile1736Thr)
2g.237344405A>TCA351201779COL6A3c.258T>A
c.6995T>A (p.Ile2332Asn)
c.7613T>A (p.Ile2538Asn)
c.5789T>A (p.Ile1930Asn)
c.5792T>A (p.Ile1931Asn)
n.1867T>A
c.7013T>A (p.Ile2338Asn)
c.6392T>A (p.Ile2131Asn)
c.7112T>A (p.Ile2371Asn)
c.7610T>A (p.Ile2537Asn)
c.5207T>A (p.Ile1736Asn)
2g.237344406T>ACA351201780COL6A3c.257A>T
c.6994A>T (p.Ile2332Phe)
c.7612A>T (p.Ile2538Phe)
c.5788A>T (p.Ile1930Phe)
c.5791A>T (p.Ile1931Phe)
n.1866A>T
c.7012A>T (p.Ile2338Phe)
c.6391A>T (p.Ile2131Phe)
c.7111A>T (p.Ile2371Phe)
c.7609A>T (p.Ile2537Phe)
c.5206A>T (p.Ile1736Phe)
2g.237344406T>CCA2187764COL6A3c.257A>G
c.6994A>G (p.Ile2332Val)
c.7612A>G (p.Ile2538Val)
c.5788A>G (p.Ile1930Val)
c.5791A>G (p.Ile1931Val)
n.1866A>G
c.7012A>G (p.Ile2338Val)
c.6391A>G (p.Ile2131Val)
c.7111A>G (p.Ile2371Val)
c.7609A>G (p.Ile2537Val)
c.5206A>G (p.Ile1736Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237344406T>GCA351201790COL6A3c.257A>C
c.6994A>C (p.Ile2332Leu)
c.7612A>C (p.Ile2538Leu)
c.5788A>C (p.Ile1930Leu)
c.5791A>C (p.Ile1931Leu)
n.1866A>C
c.7012A>C (p.Ile2338Leu)
c.6391A>C (p.Ile2131Leu)
c.7111A>C (p.Ile2371Leu)
c.7609A>C (p.Ile2537Leu)
c.5206A>C (p.Ile1736Leu)
2g.237344406T=CA1337610858COL6A3c.257A=
c.6994A= (p.Ile2332=)
c.7612A= (p.Ile2538=)
c.5788A= (p.Ile1930=)
c.5791A= (p.Ile1931=)
n.1866A=
c.7012A= (p.Ile2338=)
c.6391A= (p.Ile2131=)
c.7111A= (p.Ile2371=)
c.7609A= (p.Ile2537=)
c.5206A= (p.Ile1736=)
2g.237344407C>ACA2187765COL6A3c.256G>T
c.6993G>T (p.Gly2331=)
c.7611G>T (p.Gly2537=)
c.5787G>T (p.Gly1929=)
c.5790G>T (p.Gly1930=)
n.1865G>T
c.7011G>T (p.Gly2337=)
c.6390G>T (p.Gly2130=)
c.7110G>T (p.Gly2370=)
c.7608G>T (p.Gly2536=)
c.5205G>T (p.Gly1735=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344407C=CA1337610859COL6A3c.256G=
c.6993G= (p.Gly2331=)
c.7611G= (p.Gly2537=)
c.5787G= (p.Gly1929=)
c.5790G= (p.Gly1930=)
n.1865G=
c.7011G= (p.Gly2337=)
c.6390G= (p.Gly2130=)
c.7110G= (p.Gly2370=)
c.7608G= (p.Gly2536=)
c.5205G= (p.Gly1735=)
2g.237344407C>GCA431710284COL6A3c.256G>C
c.6993G>C (p.Gly2331=)
c.7611G>C (p.Gly2537=)
c.5787G>C (p.Gly1929=)
c.5790G>C (p.Gly1930=)
n.1865G>C
c.7011G>C (p.Gly2337=)
c.6390G>C (p.Gly2130=)
c.7110G>C (p.Gly2370=)
c.7608G>C (p.Gly2536=)
c.5205G>C (p.Gly1735=)
2g.237344407C>TCA431710285COL6A3c.256G>A
c.6993G>A (p.Gly2331=)
c.7611G>A (p.Gly2537=)
c.5787G>A (p.Gly1929=)
c.5790G>A (p.Gly1930=)
n.1865G>A
c.7011G>A (p.Gly2337=)
c.6390G>A (p.Gly2130=)
c.7110G>A (p.Gly2370=)
c.7608G>A (p.Gly2536=)
c.5205G>A (p.Gly1735=)
 ClinVar dbSNP gnomAD v4
2g.237344408C>ACA351201799COL6A3c.255G>T
c.6992G>T (p.Gly2331Val)
c.7610G>T (p.Gly2537Val)
c.5786G>T (p.Gly1929Val)
c.5789G>T (p.Gly1930Val)
n.1864G>T
c.7010G>T (p.Gly2337Val)
c.6389G>T (p.Gly2130Val)
c.7109G>T (p.Gly2370Val)
c.7607G>T (p.Gly2536Val)
c.5204G>T (p.Gly1735Val)
2g.237344408C>GCA351201797COL6A3c.255G>C
c.6992G>C (p.Gly2331Ala)
c.7610G>C (p.Gly2537Ala)
c.5786G>C (p.Gly1929Ala)
c.5789G>C (p.Gly1930Ala)
n.1864G>C
c.7010G>C (p.Gly2337Ala)
c.6389G>C (p.Gly2130Ala)
c.7109G>C (p.Gly2370Ala)
c.7607G>C (p.Gly2536Ala)
c.5204G>C (p.Gly1735Ala)
2g.237344408C>TCA351201796COL6A3c.255G>A
c.6992G>A (p.Gly2331Glu)
c.7610G>A (p.Gly2537Glu)
c.5786G>A (p.Gly1929Glu)
c.5789G>A (p.Gly1930Glu)
n.1864G>A
c.7010G>A (p.Gly2337Glu)
c.6389G>A (p.Gly2130Glu)
c.7109G>A (p.Gly2370Glu)
c.7607G>A (p.Gly2536Glu)
c.5204G>A (p.Gly1735Glu)
 gnomAD v4 COSMIC
2g.237344409C>ACA351201801COL6A3c.254G>T
c.6991G>T (p.Gly2331Trp)
c.7609G>T (p.Gly2537Trp)
c.5785G>T (p.Gly1929Trp)
c.5788G>T (p.Gly1930Trp)
n.1863G>T
c.7009G>T (p.Gly2337Trp)
c.6388G>T (p.Gly2130Trp)
c.7108G>T (p.Gly2370Trp)
c.7606G>T (p.Gly2536Trp)
c.5203G>T (p.Gly1735Trp)
 COSMIC
2g.237344409C=CA1337610860COL6A3c.254G=
c.6991G= (p.Gly2331=)
c.7609G= (p.Gly2537=)
c.5785G= (p.Gly1929=)
c.5788G= (p.Gly1930=)
n.1863G=
c.7009G= (p.Gly2337=)
c.6388G= (p.Gly2130=)
c.7108G= (p.Gly2370=)
c.7606G= (p.Gly2536=)
c.5203G= (p.Gly1735=)
2g.237344409C>GCA351201804COL6A3c.254G>C
c.6991G>C (p.Gly2331Arg)
c.7609G>C (p.Gly2537Arg)
c.5785G>C (p.Gly1929Arg)
c.5788G>C (p.Gly1930Arg)
n.1863G>C
c.7009G>C (p.Gly2337Arg)
c.6388G>C (p.Gly2130Arg)
c.7108G>C (p.Gly2370Arg)
c.7606G>C (p.Gly2536Arg)
c.5203G>C (p.Gly1735Arg)
 ClinVar
2g.237344409C>TCA351201809COL6A3c.254G>A
c.6991G>A (p.Gly2331Arg)
c.7609G>A (p.Gly2537Arg)
c.5785G>A (p.Gly1929Arg)
c.5788G>A (p.Gly1930Arg)
n.1863G>A
c.7009G>A (p.Gly2337Arg)
c.6388G>A (p.Gly2130Arg)
c.7108G>A (p.Gly2370Arg)
c.7606G>A (p.Gly2536Arg)
c.5203G>A (p.Gly1735Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.237344410C>ACA431710286COL6A3c.253G>T
c.6990G>T (p.Ala2330=)
c.7608G>T (p.Ala2536=)
c.5784G>T (p.Ala1928=)
c.5787G>T (p.Ala1929=)
n.1862G>T
c.7008G>T (p.Ala2336=)
c.6387G>T (p.Ala2129=)
c.7107G>T (p.Ala2369=)
c.7605G>T (p.Ala2535=)
c.5202G>T (p.Ala1734=)
 ClinVar dbSNP gnomAD v4
2g.237344410C=CA1337610861COL6A3c.253G=
c.6990G= (p.Ala2330=)
c.7608G= (p.Ala2536=)
c.5784G= (p.Ala1928=)
c.5787G= (p.Ala1929=)
n.1862G=
c.7008G= (p.Ala2336=)
c.6387G= (p.Ala2129=)
c.7107G= (p.Ala2369=)
c.7605G= (p.Ala2535=)
c.5202G= (p.Ala1734=)
2g.237344410C>GCA431710287COL6A3c.253G>C
c.6990G>C (p.Ala2330=)
c.7608G>C (p.Ala2536=)
c.5784G>C (p.Ala1928=)
c.5787G>C (p.Ala1929=)
n.1862G>C
c.7008G>C (p.Ala2336=)
c.6387G>C (p.Ala2129=)
c.7107G>C (p.Ala2369=)
c.7605G>C (p.Ala2535=)
c.5202G>C (p.Ala1734=)
2g.237344410C>TCA2187766COL6A3c.253G>A
c.6990G>A (p.Ala2330=)
c.7608G>A (p.Ala2536=)
c.5784G>A (p.Ala1928=)
c.5787G>A (p.Ala1929=)
n.1862G>A
c.7008G>A (p.Ala2336=)
c.6387G>A (p.Ala2129=)
c.7107G>A (p.Ala2369=)
c.7605G>A (p.Ala2535=)
c.5202G>A (p.Ala1734=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237344411G>ACA2187767COL6A3c.252C>T
c.6989C>T (p.Ala2330Val)
c.7607C>T (p.Ala2536Val)
c.5783C>T (p.Ala1928Val)
c.5786C>T (p.Ala1929Val)
n.1861C>T
c.7007C>T (p.Ala2336Val)
c.6386C>T (p.Ala2129Val)
c.7106C>T (p.Ala2369Val)
c.7604C>T (p.Ala2535Val)
c.5201C>T (p.Ala1734Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344411G>CCA351201819COL6A3c.252C>G
c.6989C>G (p.Ala2330Gly)
c.7607C>G (p.Ala2536Gly)
c.5783C>G (p.Ala1928Gly)
c.5786C>G (p.Ala1929Gly)
n.1861C>G
c.7007C>G (p.Ala2336Gly)
c.6386C>G (p.Ala2129Gly)
c.7106C>G (p.Ala2369Gly)
c.7604C>G (p.Ala2535Gly)
c.5201C>G (p.Ala1734Gly)
 gnomAD v4
2g.237344411G=CA1337610862COL6A3c.252C=
c.6989C= (p.Ala2330=)
c.7607C= (p.Ala2536=)
c.5783C= (p.Ala1928=)
c.5786C= (p.Ala1929=)
n.1861C=
c.7007C= (p.Ala2336=)
c.6386C= (p.Ala2129=)
c.7106C= (p.Ala2369=)
c.7604C= (p.Ala2535=)
c.5201C= (p.Ala1734=)
2g.237344411G>TCA351201825COL6A3c.252C>A
c.6989C>A (p.Ala2330Glu)
c.7607C>A (p.Ala2536Glu)
c.5783C>A (p.Ala1928Glu)
c.5786C>A (p.Ala1929Glu)
n.1861C>A
c.7007C>A (p.Ala2336Glu)
c.6386C>A (p.Ala2129Glu)
c.7106C>A (p.Ala2369Glu)
c.7604C>A (p.Ala2535Glu)
c.5201C>A (p.Ala1734Glu)
2g.237344412C>ACA351201828COL6A3c.251G>T
c.6988G>T (p.Ala2330Ser)
c.7606G>T (p.Ala2536Ser)
c.5782G>T (p.Ala1928Ser)
c.5785G>T (p.Ala1929Ser)
n.1860G>T
c.7006G>T (p.Ala2336Ser)
c.6385G>T (p.Ala2129Ser)
c.7105G>T (p.Ala2369Ser)
c.7603G>T (p.Ala2535Ser)
c.5200G>T (p.Ala1734Ser)
2g.237344412C=CA1337610863COL6A3c.251G=
c.6988G= (p.Ala2330=)
c.7606G= (p.Ala2536=)
c.5782G= (p.Ala1928=)
c.5785G= (p.Ala1929=)
n.1860G=
c.7006G= (p.Ala2336=)
c.6385G= (p.Ala2129=)
c.7105G= (p.Ala2369=)
c.7603G= (p.Ala2535=)
c.5200G= (p.Ala1734=)
2g.237344412C>GCA351201831COL6A3c.251G>C
c.6988G>C (p.Ala2330Pro)
c.7606G>C (p.Ala2536Pro)
c.5782G>C (p.Ala1928Pro)
c.5785G>C (p.Ala1929Pro)
n.1860G>C
c.7006G>C (p.Ala2336Pro)
c.6385G>C (p.Ala2129Pro)
c.7105G>C (p.Ala2369Pro)
c.7603G>C (p.Ala2535Pro)
c.5200G>C (p.Ala1734Pro)
2g.237344412C>TCA2187768COL6A3c.251G>A
c.6988G>A (p.Ala2330Thr)
c.7606G>A (p.Ala2536Thr)
c.5782G>A (p.Ala1928Thr)
c.5785G>A (p.Ala1929Thr)
n.1860G>A
c.7006G>A (p.Ala2336Thr)
c.6385G>A (p.Ala2129Thr)
c.7105G>A (p.Ala2369Thr)
c.7603G>A (p.Ala2535Thr)
c.5200G>A (p.Ala1734Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344413A>CCA351201834COL6A3c.250T>G
c.6987T>G (p.Asp2329Glu)
c.7605T>G (p.Asp2535Glu)
c.5781T>G (p.Asp1927Glu)
c.5784T>G (p.Asp1928Glu)
n.1859T>G
c.7005T>G (p.Asp2335Glu)
c.6384T>G (p.Asp2128Glu)
c.7104T>G (p.Asp2368Glu)
c.7602T>G (p.Asp2534Glu)
c.5199T>G (p.Asp1733Glu)
2g.237344413A>GCA431710288COL6A3c.250T>C
c.6987T>C (p.Asp2329=)
c.7605T>C (p.Asp2535=)
c.5781T>C (p.Asp1927=)
c.5784T>C (p.Asp1928=)
n.1859T>C
c.7005T>C (p.Asp2335=)
c.6384T>C (p.Asp2128=)
c.7104T>C (p.Asp2368=)
c.7602T>C (p.Asp2534=)
c.5199T>C (p.Asp1733=)
 gnomAD v4
2g.237344413A>TCA351201838COL6A3c.250T>A
c.6987T>A (p.Asp2329Glu)
c.7605T>A (p.Asp2535Glu)
c.5781T>A (p.Asp1927Glu)
c.5784T>A (p.Asp1928Glu)
n.1859T>A
c.7005T>A (p.Asp2335Glu)
c.6384T>A (p.Asp2128Glu)
c.7104T>A (p.Asp2368Glu)
c.7602T>A (p.Asp2534Glu)
c.5199T>A (p.Asp1733Glu)
2g.237344414T>ACA351201842COL6A3c.249A>T
c.6986A>T (p.Asp2329Val)
c.7604A>T (p.Asp2535Val)
c.5780A>T (p.Asp1927Val)
c.5783A>T (p.Asp1928Val)
n.1858A>T
c.7004A>T (p.Asp2335Val)
c.6383A>T (p.Asp2128Val)
c.7103A>T (p.Asp2368Val)
c.7601A>T (p.Asp2534Val)
c.5198A>T (p.Asp1733Val)
2g.237344414T>CCA351201841COL6A3c.249A>G
c.6986A>G (p.Asp2329Gly)
c.7604A>G (p.Asp2535Gly)
c.5780A>G (p.Asp1927Gly)
c.5783A>G (p.Asp1928Gly)
n.1858A>G
c.7004A>G (p.Asp2335Gly)
c.6383A>G (p.Asp2128Gly)
c.7103A>G (p.Asp2368Gly)
c.7601A>G (p.Asp2534Gly)
c.5198A>G (p.Asp1733Gly)
 dbSNP
2g.237344414T>GCA351201840COL6A3c.249A>C
c.6986A>C (p.Asp2329Ala)
c.7604A>C (p.Asp2535Ala)
c.5780A>C (p.Asp1927Ala)
c.5783A>C (p.Asp1928Ala)
n.1858A>C
c.7004A>C (p.Asp2335Ala)
c.6383A>C (p.Asp2128Ala)
c.7103A>C (p.Asp2368Ala)
c.7601A>C (p.Asp2534Ala)
c.5198A>C (p.Asp1733Ala)
2g.237344414T=CA1337610864COL6A3c.249A=
c.6986A= (p.Asp2329=)
c.7604A= (p.Asp2535=)
c.5780A= (p.Asp1927=)
c.5783A= (p.Asp1928=)
n.1858A=
c.7004A= (p.Asp2335=)
c.6383A= (p.Asp2128=)
c.7103A= (p.Asp2368=)
c.7601A= (p.Asp2534=)
c.5198A= (p.Asp1733=)
2g.237344415C>ACA351201845COL6A3c.248G>T
c.6985G>T (p.Asp2329Tyr)
c.7603G>T (p.Asp2535Tyr)
c.5779G>T (p.Asp1927Tyr)
c.5782G>T (p.Asp1928Tyr)
n.1857G>T
c.7003G>T (p.Asp2335Tyr)
c.6382G>T (p.Asp2128Tyr)
c.7102G>T (p.Asp2368Tyr)
c.7600G>T (p.Asp2534Tyr)
c.5197G>T (p.Asp1733Tyr)
 ClinVar dbSNP
2g.237344415C>GCA351201846COL6A3c.248G>C
c.6985G>C (p.Asp2329His)
c.7603G>C (p.Asp2535His)
c.5779G>C (p.Asp1927His)
c.5782G>C (p.Asp1928His)
n.1857G>C
c.7003G>C (p.Asp2335His)
c.6382G>C (p.Asp2128His)
c.7102G>C (p.Asp2368His)
c.7600G>C (p.Asp2534His)
c.5197G>C (p.Asp1733His)
2g.237344415C>TCA351201849COL6A3c.248G>A
c.6985G>A (p.Asp2329Asn)
c.7603G>A (p.Asp2535Asn)
c.5779G>A (p.Asp1927Asn)
c.5782G>A (p.Asp1928Asn)
n.1857G>A
c.7003G>A (p.Asp2335Asn)
c.6382G>A (p.Asp2128Asn)
c.7102G>A (p.Asp2368Asn)
c.7600G>A (p.Asp2534Asn)
c.5197G>A (p.Asp1733Asn)
2g.237344416T>ACA431710291COL6A3c.247A>T
c.6984A>T (p.Ser2328=)
c.7602A>T (p.Ser2534=)
c.5778A>T (p.Ser1926=)
c.5781A>T (p.Ser1927=)
n.1856A>T
c.7002A>T (p.Ser2334=)
c.6381A>T (p.Ser2127=)
c.7101A>T (p.Ser2367=)
c.7599A>T (p.Ser2533=)
c.5196A>T (p.Ser1732=)
2g.237344416T>CCA431710289COL6A3c.247A>G
c.6984A>G (p.Ser2328=)
c.7602A>G (p.Ser2534=)
c.5778A>G (p.Ser1926=)
c.5781A>G (p.Ser1927=)
n.1856A>G
c.7002A>G (p.Ser2334=)
c.6381A>G (p.Ser2127=)
c.7101A>G (p.Ser2367=)
c.7599A>G (p.Ser2533=)
c.5196A>G (p.Ser1732=)
2g.237344416T>GCA431710290COL6A3c.247A>C
c.6984A>C (p.Ser2328=)
c.7602A>C (p.Ser2534=)
c.5778A>C (p.Ser1926=)
c.5781A>C (p.Ser1927=)
n.1856A>C
c.7002A>C (p.Ser2334=)
c.6381A>C (p.Ser2127=)
c.7101A>C (p.Ser2367=)
c.7599A>C (p.Ser2533=)
c.5196A>C (p.Ser1732=)
2g.237344417G>ACA351201851COL6A3c.246C>T
c.6983C>T (p.Ser2328Leu)
c.7601C>T (p.Ser2534Leu)
c.5777C>T (p.Ser1926Leu)
c.5780C>T (p.Ser1927Leu)
n.1855C>T
c.7001C>T (p.Ser2334Leu)
c.6380C>T (p.Ser2127Leu)
c.7100C>T (p.Ser2367Leu)
c.7598C>T (p.Ser2533Leu)
c.5195C>T (p.Ser1732Leu)
2g.237344417G>CCA351201852COL6A3c.246C>G
c.6983C>G (p.Ser2328Ter)
c.7601C>G (p.Ser2534Ter)
c.5777C>G (p.Ser1926Ter)
c.5780C>G (p.Ser1927Ter)
n.1855C>G
c.7001C>G (p.Ser2334Ter)
c.6380C>G (p.Ser2127Ter)
c.7100C>G (p.Ser2367Ter)
c.7598C>G (p.Ser2533Ter)
c.5195C>G (p.Ser1732Ter)
2g.237344417G>TCA351201855COL6A3c.246C>A
c.6983C>A (p.Ser2328Ter)
c.7601C>A (p.Ser2534Ter)
c.5777C>A (p.Ser1926Ter)
c.5780C>A (p.Ser1927Ter)
n.1855C>A
c.7001C>A (p.Ser2334Ter)
c.6380C>A (p.Ser2127Ter)
c.7100C>A (p.Ser2367Ter)
c.7598C>A (p.Ser2533Ter)
c.5195C>A (p.Ser1732Ter)
2g.237344420_237344421delCA2663794524COL6A3c.245_246del
c.6982_6983del (p.Ser2328ArgfsTer25)
c.7600_7601del (p.Ser2534ArgfsTer25)
c.5776_5777del (p.Ser1926ArgfsTer25)
c.5779_5780del (p.Ser1927ArgfsTer25)
n.1854_1855del
c.7000_7001del (p.Ser2334ArgfsTer25)
c.6379_6380del (p.Ser2127ArgfsTer25)
c.7099_7100del (p.Ser2367ArgfsTer25)
c.7597_7598del (p.Ser2533ArgfsTer25)
c.5194_5195del (p.Ser1732ArgfsTer25)
 gnomAD v4
2g.237344418A>CCA351201861COL6A3c.245T>G
c.6982T>G (p.Ser2328Ala)
c.7600T>G (p.Ser2534Ala)
c.5776T>G (p.Ser1926Ala)
c.5779T>G (p.Ser1927Ala)
n.1854T>G
c.7000T>G (p.Ser2334Ala)
c.6379T>G (p.Ser2127Ala)
c.7099T>G (p.Ser2367Ala)
c.7597T>G (p.Ser2533Ala)
c.5194T>G (p.Ser1732Ala)
2g.237344418A>GCA351201864COL6A3c.245T>C
c.6982T>C (p.Ser2328Pro)
c.7600T>C (p.Ser2534Pro)
c.5776T>C (p.Ser1926Pro)
c.5779T>C (p.Ser1927Pro)
n.1854T>C
c.7000T>C (p.Ser2334Pro)
c.6379T>C (p.Ser2127Pro)
c.7099T>C (p.Ser2367Pro)
c.7597T>C (p.Ser2533Pro)
c.5194T>C (p.Ser1732Pro)
2g.237344418A>TCA351201865COL6A3c.245T>A
c.6982T>A (p.Ser2328Thr)
c.7600T>A (p.Ser2534Thr)
c.5776T>A (p.Ser1926Thr)
c.5779T>A (p.Ser1927Thr)
n.1854T>A
c.7000T>A (p.Ser2334Thr)
c.6379T>A (p.Ser2127Thr)
c.7099T>A (p.Ser2367Thr)
c.7597T>A (p.Ser2533Thr)
c.5194T>A (p.Ser1732Thr)
2g.237344419G>ACA431710292COL6A3c.244C>T
c.6981C>T (p.Leu2327=)
c.7599C>T (p.Leu2533=)
c.5775C>T (p.Leu1925=)
c.5778C>T (p.Leu1926=)
n.1853C>T
c.6999C>T (p.Leu2333=)
c.6378C>T (p.Leu2126=)
c.7098C>T (p.Leu2366=)
c.7596C>T (p.Leu2532=)
c.5193C>T (p.Leu1731=)
 gnomAD v4
2g.237344419G>CCA431710293COL6A3c.244C>G
c.6981C>G (p.Leu2327=)
c.7599C>G (p.Leu2533=)
c.5775C>G (p.Leu1925=)
c.5778C>G (p.Leu1926=)
n.1853C>G
c.6999C>G (p.Leu2333=)
c.6378C>G (p.Leu2126=)
c.7098C>G (p.Leu2366=)
c.7596C>G (p.Leu2532=)
c.5193C>G (p.Leu1731=)
 dbSNP gnomAD v2 gnomAD v4
2g.237344419G=CA1337610865COL6A3c.244C=
c.6981C= (p.Leu2327=)
c.7599C= (p.Leu2533=)
c.5775C= (p.Leu1925=)
c.5778C= (p.Leu1926=)
n.1853C=
c.6999C= (p.Leu2333=)
c.6378C= (p.Leu2126=)
c.7098C= (p.Leu2366=)
c.7596C= (p.Leu2532=)
c.5193C= (p.Leu1731=)
2g.237344419G>TCA431710294COL6A3c.244C>A
c.6981C>A (p.Leu2327=)
c.7599C>A (p.Leu2533=)
c.5775C>A (p.Leu1925=)
c.5778C>A (p.Leu1926=)
n.1853C>A
c.6999C>A (p.Leu2333=)
c.6378C>A (p.Leu2126=)
c.7098C>A (p.Leu2366=)
c.7596C>A (p.Leu2532=)
c.5193C>A (p.Leu1731=)
2g.237344420A>CCA351201871COL6A3c.243T>G
c.6980T>G (p.Leu2327Arg)
c.7598T>G (p.Leu2533Arg)
c.5774T>G (p.Leu1925Arg)
c.5777T>G (p.Leu1926Arg)
n.1852T>G
c.6998T>G (p.Leu2333Arg)
c.6377T>G (p.Leu2126Arg)
c.7097T>G (p.Leu2366Arg)
c.7595T>G (p.Leu2532Arg)
c.5192T>G (p.Leu1731Arg)
2g.237344420A>GCA351201874COL6A3c.243T>C
c.6980T>C (p.Leu2327Pro)
c.7598T>C (p.Leu2533Pro)
c.5774T>C (p.Leu1925Pro)
c.5777T>C (p.Leu1926Pro)
n.1852T>C
c.6998T>C (p.Leu2333Pro)
c.6377T>C (p.Leu2126Pro)
c.7097T>C (p.Leu2366Pro)
c.7595T>C (p.Leu2532Pro)
c.5192T>C (p.Leu1731Pro)
2g.237344420A>TCA351201875COL6A3c.243T>A
c.6980T>A (p.Leu2327His)
c.7598T>A (p.Leu2533His)
c.5774T>A (p.Leu1925His)
c.5777T>A (p.Leu1926His)
n.1852T>A
c.6998T>A (p.Leu2333His)
c.6377T>A (p.Leu2126His)
c.7097T>A (p.Leu2366His)
c.7595T>A (p.Leu2532His)
c.5192T>A (p.Leu1731His)
2g.237344421G>ACA351201883COL6A3c.242C>T
c.6979C>T (p.Leu2327Phe)
c.7597C>T (p.Leu2533Phe)
c.5773C>T (p.Leu1925Phe)
c.5776C>T (p.Leu1926Phe)
n.1851C>T
c.6997C>T (p.Leu2333Phe)
c.6376C>T (p.Leu2126Phe)
c.7096C>T (p.Leu2366Phe)
c.7594C>T (p.Leu2532Phe)
c.5191C>T (p.Leu1731Phe)
2g.237344421G>CCA351201878COL6A3c.242C>G
c.6979C>G (p.Leu2327Val)
c.7597C>G (p.Leu2533Val)
c.5773C>G (p.Leu1925Val)
c.5776C>G (p.Leu1926Val)
n.1851C>G
c.6997C>G (p.Leu2333Val)
c.6376C>G (p.Leu2126Val)
c.7096C>G (p.Leu2366Val)
c.7594C>G (p.Leu2532Val)
c.5191C>G (p.Leu1731Val)
2g.237344421G=CA1337610866COL6A3c.242C=
c.6979C= (p.Leu2327=)
c.7597C= (p.Leu2533=)
c.5773C= (p.Leu1925=)
c.5776C= (p.Leu1926=)
n.1851C=
c.6997C= (p.Leu2333=)
c.6376C= (p.Leu2126=)
c.7096C= (p.Leu2366=)
c.7594C= (p.Leu2532=)
c.5191C= (p.Leu1731=)
2g.237344421G>TCA351201876COL6A3c.242C>A
c.6979C>A (p.Leu2327Ile)
c.7597C>A (p.Leu2533Ile)
c.5773C>A (p.Leu1925Ile)
c.5776C>A (p.Leu1926Ile)
n.1851C>A
c.6997C>A (p.Leu2333Ile)
c.6376C>A (p.Leu2126Ile)
c.7096C>A (p.Leu2366Ile)
c.7594C>A (p.Leu2532Ile)
c.5191C>A (p.Leu1731Ile)
 ClinVar dbSNP
2g.237344422C>ACA351201885COL6A3c.241G>T
c.6978G>T (p.Lys2326Asn)
c.7596G>T (p.Lys2532Asn)
c.5772G>T (p.Lys1924Asn)
c.5775G>T (p.Lys1925Asn)
n.1850G>T
c.6996G>T (p.Lys2332Asn)
c.6375G>T (p.Lys2125Asn)
c.7095G>T (p.Lys2365Asn)
c.7593G>T (p.Lys2531Asn)
c.5190G>T (p.Lys1730Asn)
2g.237344422C=CA1337610867COL6A3c.241G=
c.6978G= (p.Lys2326=)
c.7596G= (p.Lys2532=)
c.5772G= (p.Lys1924=)
c.5775G= (p.Lys1925=)
n.1850G=
c.6996G= (p.Lys2332=)
c.6375G= (p.Lys2125=)
c.7095G= (p.Lys2365=)
c.7593G= (p.Lys2531=)
c.5190G= (p.Lys1730=)
2g.237344422C>GCA351201887COL6A3c.241G>C
c.6978G>C (p.Lys2326Asn)
c.7596G>C (p.Lys2532Asn)
c.5772G>C (p.Lys1924Asn)
c.5775G>C (p.Lys1925Asn)
n.1850G>C
c.6996G>C (p.Lys2332Asn)
c.6375G>C (p.Lys2125Asn)
c.7095G>C (p.Lys2365Asn)
c.7593G>C (p.Lys2531Asn)
c.5190G>C (p.Lys1730Asn)
2g.237344422C>TCA148036COL6A3c.241G>A
c.6978G>A (p.Lys2326=)
c.7596G>A (p.Lys2532=)
c.5772G>A (p.Lys1924=)
c.5775G>A (p.Lys1925=)
n.1850G>A
c.6996G>A (p.Lys2332=)
c.6375G>A (p.Lys2125=)
c.7095G>A (p.Lys2365=)
c.7593G>A (p.Lys2531=)
c.5190G>A (p.Lys1730=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344422_237344436delCA2663794527COL6A3c.227_241del
c.6964_6978del (p.Glu2322_Lys2326del)
c.7582_7596del (p.Glu2528_Lys2532del)
c.5758_5772del (p.Glu1920_Lys1924del)
c.5761_5775del (p.Glu1921_Lys1925del)
n.1836_1850del
c.6982_6996del (p.Glu2328_Lys2332del)
c.6361_6375del (p.Glu2121_Lys2125del)
c.7081_7095del (p.Glu2361_Lys2365del)
c.7579_7593del (p.Glu2527_Lys2531del)
c.5176_5190del (p.Glu1726_Lys1730del)
 gnomAD v4
2g.237344423T>ACA351201892COL6A3c.240A>T
c.6977A>T (p.Lys2326Met)
c.7595A>T (p.Lys2532Met)
c.5771A>T (p.Lys1924Met)
c.5774A>T (p.Lys1925Met)
n.1849A>T
c.6995A>T (p.Lys2332Met)
c.6374A>T (p.Lys2125Met)
c.7094A>T (p.Lys2365Met)
c.7592A>T (p.Lys2531Met)
c.5189A>T (p.Lys1730Met)
2g.237344423T>CCA351201896COL6A3c.240A>G
c.6977A>G (p.Lys2326Arg)
c.7595A>G (p.Lys2532Arg)
c.5771A>G (p.Lys1924Arg)
c.5774A>G (p.Lys1925Arg)
n.1849A>G
c.6995A>G (p.Lys2332Arg)
c.6374A>G (p.Lys2125Arg)
c.7094A>G (p.Lys2365Arg)
c.7592A>G (p.Lys2531Arg)
c.5189A>G (p.Lys1730Arg)
 ClinVar
2g.237344423T>GCA351201898COL6A3c.240A>C
c.6977A>C (p.Lys2326Thr)
c.7595A>C (p.Lys2532Thr)
c.5771A>C (p.Lys1924Thr)
c.5774A>C (p.Lys1925Thr)
n.1849A>C
c.6995A>C (p.Lys2332Thr)
c.6374A>C (p.Lys2125Thr)
c.7094A>C (p.Lys2365Thr)
c.7592A>C (p.Lys2531Thr)
c.5189A>C (p.Lys1730Thr)
2g.237344424T>ACA351201902COL6A3c.239A>T
c.6976A>T (p.Lys2326Ter)
c.7594A>T (p.Lys2532Ter)
c.5770A>T (p.Lys1924Ter)
c.5773A>T (p.Lys1925Ter)
n.1848A>T
c.6994A>T (p.Lys2332Ter)
c.6373A>T (p.Lys2125Ter)
c.7093A>T (p.Lys2365Ter)
c.7591A>T (p.Lys2531Ter)
c.5188A>T (p.Lys1730Ter)
2g.237344424T>CCA351201918COL6A3c.239A>G
c.6976A>G (p.Lys2326Glu)
c.7594A>G (p.Lys2532Glu)
c.5770A>G (p.Lys1924Glu)
c.5773A>G (p.Lys1925Glu)
n.1848A>G
c.6994A>G (p.Lys2332Glu)
c.6373A>G (p.Lys2125Glu)
c.7093A>G (p.Lys2365Glu)
c.7591A>G (p.Lys2531Glu)
c.5188A>G (p.Lys1730Glu)
2g.237344424T>GCA2187769COL6A3c.239A>C
c.6976A>C (p.Lys2326Gln)
c.7594A>C (p.Lys2532Gln)
c.5770A>C (p.Lys1924Gln)
c.5773A>C (p.Lys1925Gln)
n.1848A>C
c.6994A>C (p.Lys2332Gln)
c.6373A>C (p.Lys2125Gln)
c.7093A>C (p.Lys2365Gln)
c.7591A>C (p.Lys2531Gln)
c.5188A>C (p.Lys1730Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344424T=CA1337610868COL6A3c.239A=
c.6976A= (p.Lys2326=)
c.7594A= (p.Lys2532=)
c.5770A= (p.Lys1924=)
c.5773A= (p.Lys1925=)
n.1848A=
c.6994A= (p.Lys2332=)
c.6373A= (p.Lys2125=)
c.7093A= (p.Lys2365=)
c.7591A= (p.Lys2531=)
c.5188A= (p.Lys1730=)
2g.237344425G>ACA2187770COL6A3c.238C>T
c.6975C>T (p.Leu2325=)
c.7593C>T (p.Leu2531=)
c.5769C>T (p.Leu1923=)
c.5772C>T (p.Leu1924=)
n.1847C>T
c.6993C>T (p.Leu2331=)
c.6372C>T (p.Leu2124=)
c.7092C>T (p.Leu2364=)
c.7590C>T (p.Leu2530=)
c.5187C>T (p.Leu1729=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344425G>CCA431710296COL6A3c.238C>G
c.6975C>G (p.Leu2325=)
c.7593C>G (p.Leu2531=)
c.5769C>G (p.Leu1923=)
c.5772C>G (p.Leu1924=)
n.1847C>G
c.6993C>G (p.Leu2331=)
c.6372C>G (p.Leu2124=)
c.7092C>G (p.Leu2364=)
c.7590C>G (p.Leu2530=)
c.5187C>G (p.Leu1729=)
2g.237344425G=CA1337610869COL6A3c.238C=
c.6975C= (p.Leu2325=)
c.7593C= (p.Leu2531=)
c.5769C= (p.Leu1923=)
c.5772C= (p.Leu1924=)
n.1847C=
c.6993C= (p.Leu2331=)
c.6372C= (p.Leu2124=)
c.7092C= (p.Leu2364=)
c.7590C= (p.Leu2530=)
c.5187C= (p.Leu1729=)
2g.237344425G>TCA431710295COL6A3c.238C>A
c.6975C>A (p.Leu2325=)
c.7593C>A (p.Leu2531=)
c.5769C>A (p.Leu1923=)
c.5772C>A (p.Leu1924=)
n.1847C>A
c.6993C>A (p.Leu2331=)
c.6372C>A (p.Leu2124=)
c.7092C>A (p.Leu2364=)
c.7590C>A (p.Leu2530=)
c.5187C>A (p.Leu1729=)
2g.237344426A>CCA351201925COL6A3c.237T>G
c.6974T>G (p.Leu2325Arg)
c.7592T>G (p.Leu2531Arg)
c.5768T>G (p.Leu1923Arg)
c.5771T>G (p.Leu1924Arg)
n.1846T>G
c.6992T>G (p.Leu2331Arg)
c.6371T>G (p.Leu2124Arg)
c.7091T>G (p.Leu2364Arg)
c.7589T>G (p.Leu2530Arg)
c.5186T>G (p.Leu1729Arg)
2g.237344426A>GCA351201928COL6A3c.237T>C
c.6974T>C (p.Leu2325Pro)
c.7592T>C (p.Leu2531Pro)
c.5768T>C (p.Leu1923Pro)
c.5771T>C (p.Leu1924Pro)
n.1846T>C
c.6992T>C (p.Leu2331Pro)
c.6371T>C (p.Leu2124Pro)
c.7091T>C (p.Leu2364Pro)
c.7589T>C (p.Leu2530Pro)
c.5186T>C (p.Leu1729Pro)
2g.237344426A>TCA351201930COL6A3c.237T>A
c.6974T>A (p.Leu2325His)
c.7592T>A (p.Leu2531His)
c.5768T>A (p.Leu1923His)
c.5771T>A (p.Leu1924His)
n.1846T>A
c.6992T>A (p.Leu2331His)
c.6371T>A (p.Leu2124His)
c.7091T>A (p.Leu2364His)
c.7589T>A (p.Leu2530His)
c.5186T>A (p.Leu1729His)
2g.237344427G>ACA351201934COL6A3c.236C>T
c.6973C>T (p.Leu2325Phe)
c.7591C>T (p.Leu2531Phe)
c.5767C>T (p.Leu1923Phe)
c.5770C>T (p.Leu1924Phe)
n.1845C>T
c.6991C>T (p.Leu2331Phe)
c.6370C>T (p.Leu2124Phe)
c.7090C>T (p.Leu2364Phe)
c.7588C>T (p.Leu2530Phe)
c.5185C>T (p.Leu1729Phe)
2g.237344427G>CCA67839061COL6A3c.236C>G
c.6973C>G (p.Leu2325Val)
c.7591C>G (p.Leu2531Val)
c.5767C>G (p.Leu1923Val)
c.5770C>G (p.Leu1924Val)
n.1845C>G
c.6991C>G (p.Leu2331Val)
c.6370C>G (p.Leu2124Val)
c.7090C>G (p.Leu2364Val)
c.7588C>G (p.Leu2530Val)
c.5185C>G (p.Leu1729Val)
 dbSNP
2g.237344427G=CA1337610870COL6A3c.236C=
c.6973C= (p.Leu2325=)
c.7591C= (p.Leu2531=)
c.5767C= (p.Leu1923=)
c.5770C= (p.Leu1924=)
n.1845C=
c.6991C= (p.Leu2331=)
c.6370C= (p.Leu2124=)
c.7090C= (p.Leu2364=)
c.7588C= (p.Leu2530=)
c.5185C= (p.Leu1729=)
2g.237344427G>TCA351201933COL6A3c.236C>A
c.6973C>A (p.Leu2325Ile)
c.7591C>A (p.Leu2531Ile)
c.5767C>A (p.Leu1923Ile)
c.5770C>A (p.Leu1924Ile)
n.1845C>A
c.6991C>A (p.Leu2331Ile)
c.6370C>A (p.Leu2124Ile)
c.7090C>A (p.Leu2364Ile)
c.7588C>A (p.Leu2530Ile)
c.5185C>A (p.Leu1729Ile)
2g.237344428C>ACA431710297COL6A3c.235G>T
c.6972G>T (p.Val2324=)
c.7590G>T (p.Val2530=)
c.5766G>T (p.Val1922=)
c.5769G>T (p.Val1923=)
n.1844G>T
c.6990G>T (p.Val2330=)
c.6369G>T (p.Val2123=)
c.7089G>T (p.Val2363=)
c.7587G>T (p.Val2529=)
c.5184G>T (p.Val1728=)
2g.237344428C=CA1337610871COL6A3c.235G=
c.6972G= (p.Val2324=)
c.7590G= (p.Val2530=)
c.5766G= (p.Val1922=)
c.5769G= (p.Val1923=)
n.1844G=
c.6990G= (p.Val2330=)
c.6369G= (p.Val2123=)
c.7089G= (p.Val2363=)
c.7587G= (p.Val2529=)
c.5184G= (p.Val1728=)
2g.237344428C>GCA431710298COL6A3c.235G>C
c.6972G>C (p.Val2324=)
c.7590G>C (p.Val2530=)
c.5766G>C (p.Val1922=)
c.5769G>C (p.Val1923=)
n.1844G>C
c.6990G>C (p.Val2330=)
c.6369G>C (p.Val2123=)
c.7089G>C (p.Val2363=)
c.7587G>C (p.Val2529=)
c.5184G>C (p.Val1728=)
2g.237344428C>TCA2187771COL6A3c.235G>A
c.6972G>A (p.Val2324=)
c.7590G>A (p.Val2530=)
c.5766G>A (p.Val1922=)
c.5769G>A (p.Val1923=)
n.1844G>A
c.6990G>A (p.Val2330=)
c.6369G>A (p.Val2123=)
c.7089G>A (p.Val2363=)
c.7587G>A (p.Val2529=)
c.5184G>A (p.Val1728=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237344429A=CA1337610872COL6A3c.234T=
c.6971T= (p.Val2324=)
c.7589T= (p.Val2530=)
c.5765T= (p.Val1922=)
c.5768T= (p.Val1923=)
n.1843T=
c.6989T= (p.Val2330=)
c.6368T= (p.Val2123=)
c.7088T= (p.Val2363=)
c.7586T= (p.Val2529=)
c.5183T= (p.Val1728=)
2g.237344429A>CCA351201946COL6A3c.234T>G
c.6971T>G (p.Val2324Gly)
c.7589T>G (p.Val2530Gly)
c.5765T>G (p.Val1922Gly)
c.5768T>G (p.Val1923Gly)
n.1843T>G
c.6989T>G (p.Val2330Gly)
c.6368T>G (p.Val2123Gly)
c.7088T>G (p.Val2363Gly)
c.7586T>G (p.Val2529Gly)
c.5183T>G (p.Val1728Gly)
 dbSNP
2g.237344429A>GCA2187772COL6A3c.234T>C
c.6971T>C (p.Val2324Ala)
c.7589T>C (p.Val2530Ala)
c.5765T>C (p.Val1922Ala)
c.5768T>C (p.Val1923Ala)
n.1843T>C
c.6989T>C (p.Val2330Ala)
c.6368T>C (p.Val2123Ala)
c.7088T>C (p.Val2363Ala)
c.7586T>C (p.Val2529Ala)
c.5183T>C (p.Val1728Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344429A>TCA351201948COL6A3c.234T>A
c.6971T>A (p.Val2324Glu)
c.7589T>A (p.Val2530Glu)
c.5765T>A (p.Val1922Glu)
c.5768T>A (p.Val1923Glu)
n.1843T>A
c.6989T>A (p.Val2330Glu)
c.6368T>A (p.Val2123Glu)
c.7088T>A (p.Val2363Glu)
c.7586T>A (p.Val2529Glu)
c.5183T>A (p.Val1728Glu)
2g.237344430C>ACA351201953COL6A3c.233G>T
c.6970G>T (p.Val2324Leu)
c.7588G>T (p.Val2530Leu)
c.5764G>T (p.Val1922Leu)
c.5767G>T (p.Val1923Leu)
n.1842G>T
c.6988G>T (p.Val2330Leu)
c.6367G>T (p.Val2123Leu)
c.7087G>T (p.Val2363Leu)
c.7585G>T (p.Val2529Leu)
c.5182G>T (p.Val1728Leu)
2g.237344430C>GCA351201960COL6A3c.233G>C
c.6970G>C (p.Val2324Leu)
c.7588G>C (p.Val2530Leu)
c.5764G>C (p.Val1922Leu)
c.5767G>C (p.Val1923Leu)
n.1842G>C
c.6988G>C (p.Val2330Leu)
c.6367G>C (p.Val2123Leu)
c.7087G>C (p.Val2363Leu)
c.7585G>C (p.Val2529Leu)
c.5182G>C (p.Val1728Leu)
 gnomAD v4
2g.237344430C>TCA351201955COL6A3c.233G>A
c.6970G>A (p.Val2324Met)
c.7588G>A (p.Val2530Met)
c.5764G>A (p.Val1922Met)
c.5767G>A (p.Val1923Met)
n.1842G>A
c.6988G>A (p.Val2330Met)
c.6367G>A (p.Val2123Met)
c.7087G>A (p.Val2363Met)
c.7585G>A (p.Val2529Met)
c.5182G>A (p.Val1728Met)
2g.237344431A=CA1337610873COL6A3c.232T=
c.6969T= (p.Ala2323=)
c.7587T= (p.Ala2529=)
c.5763T= (p.Ala1921=)
c.5766T= (p.Ala1922=)
n.1841T=
c.6987T= (p.Ala2329=)
c.6366T= (p.Ala2122=)
c.7086T= (p.Ala2362=)
c.7584T= (p.Ala2528=)
c.5181T= (p.Ala1727=)
2g.237344431A>CCA431710299COL6A3c.232T>G
c.6969T>G (p.Ala2323=)
c.7587T>G (p.Ala2529=)
c.5763T>G (p.Ala1921=)
c.5766T>G (p.Ala1922=)
n.1841T>G
c.6987T>G (p.Ala2329=)
c.6366T>G (p.Ala2122=)
c.7086T>G (p.Ala2362=)
c.7584T>G (p.Ala2528=)
c.5181T>G (p.Ala1727=)
2g.237344431A>GCA431710300COL6A3c.232T>C
c.6969T>C (p.Ala2323=)
c.7587T>C (p.Ala2529=)
c.5763T>C (p.Ala1921=)
c.5766T>C (p.Ala1922=)
n.1841T>C
c.6987T>C (p.Ala2329=)
c.6366T>C (p.Ala2122=)
c.7086T>C (p.Ala2362=)
c.7584T>C (p.Ala2528=)
c.5181T>C (p.Ala1727=)
 ClinVar dbSNP
2g.237344431A>TCA431710301COL6A3c.232T>A
c.6969T>A (p.Ala2323=)
c.7587T>A (p.Ala2529=)
c.5763T>A (p.Ala1921=)
c.5766T>A (p.Ala1922=)
n.1841T>A
c.6987T>A (p.Ala2329=)
c.6366T>A (p.Ala2122=)
c.7086T>A (p.Ala2362=)
c.7584T>A (p.Ala2528=)
c.5181T>A (p.Ala1727=)
2g.237344432G>ACA2187773COL6A3c.231C>T
c.6968C>T (p.Ala2323Val)
c.7586C>T (p.Ala2529Val)
c.5762C>T (p.Ala1921Val)
c.5765C>T (p.Ala1922Val)
n.1840C>T
c.6986C>T (p.Ala2329Val)
c.6365C>T (p.Ala2122Val)
c.7085C>T (p.Ala2362Val)
c.7583C>T (p.Ala2528Val)
c.5180C>T (p.Ala1727Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344432G>CCA351201967COL6A3c.231C>G
c.6968C>G (p.Ala2323Gly)
c.7586C>G (p.Ala2529Gly)
c.5762C>G (p.Ala1921Gly)
c.5765C>G (p.Ala1922Gly)
n.1840C>G
c.6986C>G (p.Ala2329Gly)
c.6365C>G (p.Ala2122Gly)
c.7085C>G (p.Ala2362Gly)
c.7583C>G (p.Ala2528Gly)
c.5180C>G (p.Ala1727Gly)
2g.237344432G=CA1337610874COL6A3c.231C=
c.6968C= (p.Ala2323=)
c.7586C= (p.Ala2529=)
c.5762C= (p.Ala1921=)
c.5765C= (p.Ala1922=)
n.1840C=
c.6986C= (p.Ala2329=)
c.6365C= (p.Ala2122=)
c.7085C= (p.Ala2362=)
c.7583C= (p.Ala2528=)
c.5180C= (p.Ala1727=)
2g.237344432G>TCA351201969COL6A3c.231C>A
c.6968C>A (p.Ala2323Asp)
c.7586C>A (p.Ala2529Asp)
c.5762C>A (p.Ala1921Asp)
c.5765C>A (p.Ala1922Asp)
n.1840C>A
c.6986C>A (p.Ala2329Asp)
c.6365C>A (p.Ala2122Asp)
c.7085C>A (p.Ala2362Asp)
c.7583C>A (p.Ala2528Asp)
c.5180C>A (p.Ala1727Asp)

Number of alleles fetched