Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
2g.237344433C>ACA2187774COL6A3c.230G>T
c.6967G>T (p.Ala2323Ser)
c.7585G>T (p.Ala2529Ser)
c.5761G>T (p.Ala1921Ser)
c.5764G>T (p.Ala1922Ser)
n.1839G>T
c.6985G>T (p.Ala2329Ser)
c.6364G>T (p.Ala2122Ser)
c.7084G>T (p.Ala2362Ser)
c.7582G>T (p.Ala2528Ser)
c.5179G>T (p.Ala1727Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344433C=CA1337610875COL6A3c.230G=
c.6967G= (p.Ala2323=)
c.7585G= (p.Ala2529=)
c.5761G= (p.Ala1921=)
c.5764G= (p.Ala1922=)
n.1839G=
c.6985G= (p.Ala2329=)
c.6364G= (p.Ala2122=)
c.7084G= (p.Ala2362=)
c.7582G= (p.Ala2528=)
c.5179G= (p.Ala1727=)
2g.237344433C>GCA351201975COL6A3c.230G>C
c.6967G>C (p.Ala2323Pro)
c.7585G>C (p.Ala2529Pro)
c.5761G>C (p.Ala1921Pro)
c.5764G>C (p.Ala1922Pro)
n.1839G>C
c.6985G>C (p.Ala2329Pro)
c.6364G>C (p.Ala2122Pro)
c.7084G>C (p.Ala2362Pro)
c.7582G>C (p.Ala2528Pro)
c.5179G>C (p.Ala1727Pro)
2g.237344433C>TCA351201979COL6A3c.230G>A
c.6967G>A (p.Ala2323Thr)
c.7585G>A (p.Ala2529Thr)
c.5761G>A (p.Ala1921Thr)
c.5764G>A (p.Ala1922Thr)
n.1839G>A
c.6985G>A (p.Ala2329Thr)
c.6364G>A (p.Ala2122Thr)
c.7084G>A (p.Ala2362Thr)
c.7582G>A (p.Ala2528Thr)
c.5179G>A (p.Ala1727Thr)
 dbSNP
2g.237344434C>ACA351201980COL6A3c.229G>T
c.6966G>T (p.Glu2322Asp)
c.7584G>T (p.Glu2528Asp)
c.5760G>T (p.Glu1920Asp)
c.5763G>T (p.Glu1921Asp)
n.1838G>T
c.6984G>T (p.Glu2328Asp)
c.6363G>T (p.Glu2121Asp)
c.7083G>T (p.Glu2361Asp)
c.7581G>T (p.Glu2527Asp)
c.5178G>T (p.Glu1726Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.237344434C=CA1337610876COL6A3c.229G=
c.6966G= (p.Glu2322=)
c.7584G= (p.Glu2528=)
c.5760G= (p.Glu1920=)
c.5763G= (p.Glu1921=)
n.1838G=
c.6984G= (p.Glu2328=)
c.6363G= (p.Glu2121=)
c.7083G= (p.Glu2361=)
c.7581G= (p.Glu2527=)
c.5178G= (p.Glu1726=)
2g.237344434C>GCA351201982COL6A3c.229G>C
c.6966G>C (p.Glu2322Asp)
c.7584G>C (p.Glu2528Asp)
c.5760G>C (p.Glu1920Asp)
c.5763G>C (p.Glu1921Asp)
n.1838G>C
c.6984G>C (p.Glu2328Asp)
c.6363G>C (p.Glu2121Asp)
c.7083G>C (p.Glu2361Asp)
c.7581G>C (p.Glu2527Asp)
c.5178G>C (p.Glu1726Asp)
 gnomAD v4
2g.237344434C>TCA431710302COL6A3c.229G>A
c.6966G>A (p.Glu2322=)
c.7584G>A (p.Glu2528=)
c.5760G>A (p.Glu1920=)
c.5763G>A (p.Glu1921=)
n.1838G>A
c.6984G>A (p.Glu2328=)
c.6363G>A (p.Glu2121=)
c.7083G>A (p.Glu2361=)
c.7581G>A (p.Glu2527=)
c.5178G>A (p.Glu1726=)
 ClinVar dbSNP gnomAD v4
2g.237344435T>ACA351201983COL6A3c.228A>T
c.6965A>T (p.Glu2322Val)
c.7583A>T (p.Glu2528Val)
c.5759A>T (p.Glu1920Val)
c.5762A>T (p.Glu1921Val)
n.1837A>T
c.6983A>T (p.Glu2328Val)
c.6362A>T (p.Glu2121Val)
c.7082A>T (p.Glu2361Val)
c.7580A>T (p.Glu2527Val)
c.5177A>T (p.Glu1726Val)
2g.237344435T>CCA351201984COL6A3c.228A>G
c.6965A>G (p.Glu2322Gly)
c.7583A>G (p.Glu2528Gly)
c.5759A>G (p.Glu1920Gly)
c.5762A>G (p.Glu1921Gly)
n.1837A>G
c.6983A>G (p.Glu2328Gly)
c.6362A>G (p.Glu2121Gly)
c.7082A>G (p.Glu2361Gly)
c.7580A>G (p.Glu2527Gly)
c.5177A>G (p.Glu1726Gly)
2g.237344435T>GCA351201985COL6A3c.228A>C
c.6965A>C (p.Glu2322Ala)
c.7583A>C (p.Glu2528Ala)
c.5759A>C (p.Glu1920Ala)
c.5762A>C (p.Glu1921Ala)
n.1837A>C
c.6983A>C (p.Glu2328Ala)
c.6362A>C (p.Glu2121Ala)
c.7082A>C (p.Glu2361Ala)
c.7580A>C (p.Glu2527Ala)
c.5177A>C (p.Glu1726Ala)
2g.237344436C>ACA351201995COL6A3c.227G>T
c.6964G>T (p.Glu2322Ter)
c.7582G>T (p.Glu2528Ter)
c.5758G>T (p.Glu1920Ter)
c.5761G>T (p.Glu1921Ter)
n.1836G>T
c.6982G>T (p.Glu2328Ter)
c.6361G>T (p.Glu2121Ter)
c.7081G>T (p.Glu2361Ter)
c.7579G>T (p.Glu2527Ter)
c.5176G>T (p.Glu1726Ter)
2g.237344436C=CA1337610877COL6A3c.227G=
c.6964G= (p.Glu2322=)
c.7582G= (p.Glu2528=)
c.5758G= (p.Glu1920=)
c.5761G= (p.Glu1921=)
n.1836G=
c.6982G= (p.Glu2328=)
c.6361G= (p.Glu2121=)
c.7081G= (p.Glu2361=)
c.7579G= (p.Glu2527=)
c.5176G= (p.Glu1726=)
2g.237344436C>GCA351201991COL6A3c.227G>C
c.6964G>C (p.Glu2322Gln)
c.7582G>C (p.Glu2528Gln)
c.5758G>C (p.Glu1920Gln)
c.5761G>C (p.Glu1921Gln)
n.1836G>C
c.6982G>C (p.Glu2328Gln)
c.6361G>C (p.Glu2121Gln)
c.7081G>C (p.Glu2361Gln)
c.7579G>C (p.Glu2527Gln)
c.5176G>C (p.Glu1726Gln)
2g.237344436C>TCA351201988COL6A3c.227G>A
c.6964G>A (p.Glu2322Lys)
c.7582G>A (p.Glu2528Lys)
c.5758G>A (p.Glu1920Lys)
c.5761G>A (p.Glu1921Lys)
n.1836G>A
c.6982G>A (p.Glu2328Lys)
c.6361G>A (p.Glu2121Lys)
c.7081G>A (p.Glu2361Lys)
c.7579G>A (p.Glu2527Lys)
c.5176G>A (p.Glu1726Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237344437T>ACA351201998COL6A3c.226A>T
c.6963A>T (p.Arg2321Ser)
c.7581A>T (p.Arg2527Ser)
c.5757A>T (p.Arg1919Ser)
c.5760A>T (p.Arg1920Ser)
n.1835A>T
c.6981A>T (p.Arg2327Ser)
c.6360A>T (p.Arg2120Ser)
c.7080A>T (p.Arg2360Ser)
c.7578A>T (p.Arg2526Ser)
c.5175A>T (p.Arg1725Ser)
2g.237344437T>CCA2187775COL6A3c.226A>G
c.6963A>G (p.Arg2321=)
c.7581A>G (p.Arg2527=)
c.5757A>G (p.Arg1919=)
c.5760A>G (p.Arg1920=)
n.1835A>G
c.6981A>G (p.Arg2327=)
c.6360A>G (p.Arg2120=)
c.7080A>G (p.Arg2360=)
c.7578A>G (p.Arg2526=)
c.5175A>G (p.Arg1725=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344437T>GCA351202003COL6A3c.226A>C
c.6963A>C (p.Arg2321Ser)
c.7581A>C (p.Arg2527Ser)
c.5757A>C (p.Arg1919Ser)
c.5760A>C (p.Arg1920Ser)
n.1835A>C
c.6981A>C (p.Arg2327Ser)
c.6360A>C (p.Arg2120Ser)
c.7080A>C (p.Arg2360Ser)
c.7578A>C (p.Arg2526Ser)
c.5175A>C (p.Arg1725Ser)
 COSMIC
2g.237344437T=CA1337610878COL6A3c.226A=
c.6963A= (p.Arg2321=)
c.7581A= (p.Arg2527=)
c.5757A= (p.Arg1919=)
c.5760A= (p.Arg1920=)
n.1835A=
c.6981A= (p.Arg2327=)
c.6360A= (p.Arg2120=)
c.7080A= (p.Arg2360=)
c.7578A= (p.Arg2526=)
c.5175A= (p.Arg1725=)
2g.237344438C>ACA351202008COL6A3c.225G>T
c.6962G>T (p.Arg2321Ile)
c.7580G>T (p.Arg2527Ile)
c.5756G>T (p.Arg1919Ile)
c.5759G>T (p.Arg1920Ile)
n.1834G>T
c.6980G>T (p.Arg2327Ile)
c.6359G>T (p.Arg2120Ile)
c.7079G>T (p.Arg2360Ile)
c.7577G>T (p.Arg2526Ile)
c.5174G>T (p.Arg1725Ile)
2g.237344438C>GCA351202014COL6A3c.225G>C
c.6962G>C (p.Arg2321Thr)
c.7580G>C (p.Arg2527Thr)
c.5756G>C (p.Arg1919Thr)
c.5759G>C (p.Arg1920Thr)
n.1834G>C
c.6980G>C (p.Arg2327Thr)
c.6359G>C (p.Arg2120Thr)
c.7079G>C (p.Arg2360Thr)
c.7577G>C (p.Arg2526Thr)
c.5174G>C (p.Arg1725Thr)
2g.237344438C>TCA351202016COL6A3c.225G>A
c.6962G>A (p.Arg2321Lys)
c.7580G>A (p.Arg2527Lys)
c.5756G>A (p.Arg1919Lys)
c.5759G>A (p.Arg1920Lys)
n.1834G>A
c.6980G>A (p.Arg2327Lys)
c.6359G>A (p.Arg2120Lys)
c.7079G>A (p.Arg2360Lys)
c.7577G>A (p.Arg2526Lys)
c.5174G>A (p.Arg1725Lys)
2g.237344439T>ACA351202020COL6A3c.224A>T
c.6961A>T (p.Arg2321Ter)
c.7579A>T (p.Arg2527Ter)
c.5755A>T (p.Arg1919Ter)
c.5758A>T (p.Arg1920Ter)
n.1833A>T
c.6979A>T (p.Arg2327Ter)
c.6358A>T (p.Arg2120Ter)
c.7078A>T (p.Arg2360Ter)
c.7576A>T (p.Arg2526Ter)
c.5173A>T (p.Arg1725Ter)
2g.237344439T>CCA351202023COL6A3c.224A>G
c.6961A>G (p.Arg2321Gly)
c.7579A>G (p.Arg2527Gly)
c.5755A>G (p.Arg1919Gly)
c.5758A>G (p.Arg1920Gly)
n.1833A>G
c.6979A>G (p.Arg2327Gly)
c.6358A>G (p.Arg2120Gly)
c.7078A>G (p.Arg2360Gly)
c.7576A>G (p.Arg2526Gly)
c.5173A>G (p.Arg1725Gly)
2g.237344439T>GCA431710303COL6A3c.224A>C
c.6961A>C (p.Arg2321=)
c.7579A>C (p.Arg2527=)
c.5755A>C (p.Arg1919=)
c.5758A>C (p.Arg1920=)
n.1833A>C
c.6979A>C (p.Arg2327=)
c.6358A>C (p.Arg2120=)
c.7078A>C (p.Arg2360=)
c.7576A>C (p.Arg2526=)
c.5173A>C (p.Arg1725=)
2g.237344440G>ACA431710306COL6A3c.223C>T
c.6960C>T (p.Leu2320=)
c.7578C>T (p.Leu2526=)
c.5754C>T (p.Leu1918=)
c.5757C>T (p.Leu1919=)
n.1832C>T
c.6978C>T (p.Leu2326=)
c.6357C>T (p.Leu2119=)
c.7077C>T (p.Leu2359=)
c.7575C>T (p.Leu2525=)
c.5172C>T (p.Leu1724=)
2g.237344440G>CCA431710304COL6A3c.223C>G
c.6960C>G (p.Leu2320=)
c.7578C>G (p.Leu2526=)
c.5754C>G (p.Leu1918=)
c.5757C>G (p.Leu1919=)
n.1832C>G
c.6978C>G (p.Leu2326=)
c.6357C>G (p.Leu2119=)
c.7077C>G (p.Leu2359=)
c.7575C>G (p.Leu2525=)
c.5172C>G (p.Leu1724=)
 gnomAD v4
2g.237344440G>TCA431710305COL6A3c.223C>A
c.6960C>A (p.Leu2320=)
c.7578C>A (p.Leu2526=)
c.5754C>A (p.Leu1918=)
c.5757C>A (p.Leu1919=)
n.1832C>A
c.6978C>A (p.Leu2326=)
c.6357C>A (p.Leu2119=)
c.7077C>A (p.Leu2359=)
c.7575C>A (p.Leu2525=)
c.5172C>A (p.Leu1724=)
2g.237344441A>CCA351202027COL6A3c.222T>G
c.6959T>G (p.Leu2320Arg)
c.7577T>G (p.Leu2526Arg)
c.5753T>G (p.Leu1918Arg)
c.5756T>G (p.Leu1919Arg)
n.1831T>G
c.6977T>G (p.Leu2326Arg)
c.6356T>G (p.Leu2119Arg)
c.7076T>G (p.Leu2359Arg)
c.7574T>G (p.Leu2525Arg)
c.5171T>G (p.Leu1724Arg)
2g.237344441A>GCA351202031COL6A3c.222T>C
c.6959T>C (p.Leu2320Pro)
c.7577T>C (p.Leu2526Pro)
c.5753T>C (p.Leu1918Pro)
c.5756T>C (p.Leu1919Pro)
n.1831T>C
c.6977T>C (p.Leu2326Pro)
c.6356T>C (p.Leu2119Pro)
c.7076T>C (p.Leu2359Pro)
c.7574T>C (p.Leu2525Pro)
c.5171T>C (p.Leu1724Pro)
2g.237344441A>TCA351202033COL6A3c.222T>A
c.6959T>A (p.Leu2320His)
c.7577T>A (p.Leu2526His)
c.5753T>A (p.Leu1918His)
c.5756T>A (p.Leu1919His)
n.1831T>A
c.6977T>A (p.Leu2326His)
c.6356T>A (p.Leu2119His)
c.7076T>A (p.Leu2359His)
c.7574T>A (p.Leu2525His)
c.5171T>A (p.Leu1724His)
2g.237344442G>ACA351202043COL6A3c.221C>T
c.6958C>T (p.Leu2320Phe)
c.7576C>T (p.Leu2526Phe)
c.5752C>T (p.Leu1918Phe)
c.5755C>T (p.Leu1919Phe)
n.1830C>T
c.6976C>T (p.Leu2326Phe)
c.6355C>T (p.Leu2119Phe)
c.7075C>T (p.Leu2359Phe)
c.7573C>T (p.Leu2525Phe)
c.5170C>T (p.Leu1724Phe)
2g.237344442G>CCA351202040COL6A3c.221C>G
c.6958C>G (p.Leu2320Val)
c.7576C>G (p.Leu2526Val)
c.5752C>G (p.Leu1918Val)
c.5755C>G (p.Leu1919Val)
n.1830C>G
c.6976C>G (p.Leu2326Val)
c.6355C>G (p.Leu2119Val)
c.7075C>G (p.Leu2359Val)
c.7573C>G (p.Leu2525Val)
c.5170C>G (p.Leu1724Val)
 dbSNP gnomAD v3 gnomAD v4
2g.237344442G=CA1337610879COL6A3c.221C=
c.6958C= (p.Leu2320=)
c.7576C= (p.Leu2526=)
c.5752C= (p.Leu1918=)
c.5755C= (p.Leu1919=)
n.1830C=
c.6976C= (p.Leu2326=)
c.6355C= (p.Leu2119=)
c.7075C= (p.Leu2359=)
c.7573C= (p.Leu2525=)
c.5170C= (p.Leu1724=)
2g.237344442G>TCA351202037COL6A3c.221C>A
c.6958C>A (p.Leu2320Ile)
c.7576C>A (p.Leu2526Ile)
c.5752C>A (p.Leu1918Ile)
c.5755C>A (p.Leu1919Ile)
n.1830C>A
c.6976C>A (p.Leu2326Ile)
c.6355C>A (p.Leu2119Ile)
c.7075C>A (p.Leu2359Ile)
c.7573C>A (p.Leu2525Ile)
c.5170C>A (p.Leu1724Ile)
2g.237344443C>ACA351202047COL6A3c.220G>T
c.6957G>T (p.Gln2319His)
c.7575G>T (p.Gln2525His)
c.5751G>T (p.Gln1917His)
c.5754G>T (p.Gln1918His)
n.1829G>T
c.6975G>T (p.Gln2325His)
c.6354G>T (p.Gln2118His)
c.7074G>T (p.Gln2358His)
c.7572G>T (p.Gln2524His)
c.5169G>T (p.Gln1723His)
2g.237344443C=CA1337610880COL6A3c.220G=
c.6957G= (p.Gln2319=)
c.7575G= (p.Gln2525=)
c.5751G= (p.Gln1917=)
c.5754G= (p.Gln1918=)
n.1829G=
c.6975G= (p.Gln2325=)
c.6354G= (p.Gln2118=)
c.7074G= (p.Gln2358=)
c.7572G= (p.Gln2524=)
c.5169G= (p.Gln1723=)
2g.237344443C>GCA351202049COL6A3c.220G>C
c.6957G>C (p.Gln2319His)
c.7575G>C (p.Gln2525His)
c.5751G>C (p.Gln1917His)
c.5754G>C (p.Gln1918His)
n.1829G>C
c.6975G>C (p.Gln2325His)
c.6354G>C (p.Gln2118His)
c.7074G>C (p.Gln2358His)
c.7572G>C (p.Gln2524His)
c.5169G>C (p.Gln1723His)
2g.237344443C>TCA2187776COL6A3c.220G>A
c.6957G>A (p.Gln2319=)
c.7575G>A (p.Gln2525=)
c.5751G>A (p.Gln1917=)
c.5754G>A (p.Gln1918=)
n.1829G>A
c.6975G>A (p.Gln2325=)
c.6354G>A (p.Gln2118=)
c.7074G>A (p.Gln2358=)
c.7572G>A (p.Gln2524=)
c.5169G>A (p.Gln1723=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344444T>ACA351202056COL6A3c.219A>T
c.6956A>T (p.Gln2319Leu)
c.7574A>T (p.Gln2525Leu)
c.5750A>T (p.Gln1917Leu)
c.5753A>T (p.Gln1918Leu)
n.1828A>T
c.6974A>T (p.Gln2325Leu)
c.6353A>T (p.Gln2118Leu)
c.7073A>T (p.Gln2358Leu)
c.7571A>T (p.Gln2524Leu)
c.5168A>T (p.Gln1723Leu)
2g.237344444T>CCA351202058COL6A3c.219A>G
c.6956A>G (p.Gln2319Arg)
c.7574A>G (p.Gln2525Arg)
c.5750A>G (p.Gln1917Arg)
c.5753A>G (p.Gln1918Arg)
n.1828A>G
c.6974A>G (p.Gln2325Arg)
c.6353A>G (p.Gln2118Arg)
c.7073A>G (p.Gln2358Arg)
c.7571A>G (p.Gln2524Arg)
c.5168A>G (p.Gln1723Arg)
2g.237344444T>GCA351202061COL6A3c.219A>C
c.6956A>C (p.Gln2319Pro)
c.7574A>C (p.Gln2525Pro)
c.5750A>C (p.Gln1917Pro)
c.5753A>C (p.Gln1918Pro)
n.1828A>C
c.6974A>C (p.Gln2325Pro)
c.6353A>C (p.Gln2118Pro)
c.7073A>C (p.Gln2358Pro)
c.7571A>C (p.Gln2524Pro)
c.5168A>C (p.Gln1723Pro)
2g.237344445G>ACA351202064COL6A3c.218C>T
c.6955C>T (p.Gln2319Ter)
c.7573C>T (p.Gln2525Ter)
c.5749C>T (p.Gln1917Ter)
c.5752C>T (p.Gln1918Ter)
n.1827C>T
c.6973C>T (p.Gln2325Ter)
c.6352C>T (p.Gln2118Ter)
c.7072C>T (p.Gln2358Ter)
c.7570C>T (p.Gln2524Ter)
c.5167C>T (p.Gln1723Ter)
 dbSNP COSMIC
2g.237344445G>CCA351202066COL6A3c.218C>G
c.6955C>G (p.Gln2319Glu)
c.7573C>G (p.Gln2525Glu)
c.5749C>G (p.Gln1917Glu)
c.5752C>G (p.Gln1918Glu)
n.1827C>G
c.6973C>G (p.Gln2325Glu)
c.6352C>G (p.Gln2118Glu)
c.7072C>G (p.Gln2358Glu)
c.7570C>G (p.Gln2524Glu)
c.5167C>G (p.Gln1723Glu)
 ClinVar dbSNP gnomAD v4
2g.237344445G=CA1337610881COL6A3c.218C=
c.6955C= (p.Gln2319=)
c.7573C= (p.Gln2525=)
c.5749C= (p.Gln1917=)
c.5752C= (p.Gln1918=)
n.1827C=
c.6973C= (p.Gln2325=)
c.6352C= (p.Gln2118=)
c.7072C= (p.Gln2358=)
c.7570C= (p.Gln2524=)
c.5167C= (p.Gln1723=)
2g.237344445G>TCA351202071COL6A3c.218C>A
c.6955C>A (p.Gln2319Lys)
c.7573C>A (p.Gln2525Lys)
c.5749C>A (p.Gln1917Lys)
c.5752C>A (p.Gln1918Lys)
n.1827C>A
c.6973C>A (p.Gln2325Lys)
c.6352C>A (p.Gln2118Lys)
c.7072C>A (p.Gln2358Lys)
c.7570C>A (p.Gln2524Lys)
c.5167C>A (p.Gln1723Lys)
2g.237344446T>ACA431710307COL6A3c.217A>T
c.6954A>T (p.Pro2318=)
c.7572A>T (p.Pro2524=)
c.5748A>T (p.Pro1916=)
c.5751A>T (p.Pro1917=)
n.1826A>T
c.6972A>T (p.Pro2324=)
c.6351A>T (p.Pro2117=)
c.7071A>T (p.Pro2357=)
c.7569A>T (p.Pro2523=)
c.5166A>T (p.Pro1722=)
 gnomAD v4
2g.237344446T>CCA431710308COL6A3c.217A>G
c.6954A>G (p.Pro2318=)
c.7572A>G (p.Pro2524=)
c.5748A>G (p.Pro1916=)
c.5751A>G (p.Pro1917=)
n.1826A>G
c.6972A>G (p.Pro2324=)
c.6351A>G (p.Pro2117=)
c.7071A>G (p.Pro2357=)
c.7569A>G (p.Pro2523=)
c.5166A>G (p.Pro1722=)
 dbSNP
2g.237344446T>GCA431710309COL6A3c.217A>C
c.6954A>C (p.Pro2318=)
c.7572A>C (p.Pro2524=)
c.5748A>C (p.Pro1916=)
c.5751A>C (p.Pro1917=)
n.1826A>C
c.6972A>C (p.Pro2324=)
c.6351A>C (p.Pro2117=)
c.7071A>C (p.Pro2357=)
c.7569A>C (p.Pro2523=)
c.5166A>C (p.Pro1722=)
2g.237344446T=CA1337610882COL6A3c.217A=
c.6954A= (p.Pro2318=)
c.7572A= (p.Pro2524=)
c.5748A= (p.Pro1916=)
c.5751A= (p.Pro1917=)
n.1826A=
c.6972A= (p.Pro2324=)
c.6351A= (p.Pro2117=)
c.7071A= (p.Pro2357=)
c.7569A= (p.Pro2523=)
c.5166A= (p.Pro1722=)
2g.237344447G>ACA351202075COL6A3c.216C>T
c.6953C>T (p.Pro2318Leu)
c.7571C>T (p.Pro2524Leu)
c.5747C>T (p.Pro1916Leu)
c.5750C>T (p.Pro1917Leu)
n.1825C>T
c.6971C>T (p.Pro2324Leu)
c.6350C>T (p.Pro2117Leu)
c.7070C>T (p.Pro2357Leu)
c.7568C>T (p.Pro2523Leu)
c.5165C>T (p.Pro1722Leu)
2g.237344447G>CCA351202077COL6A3c.216C>G
c.6953C>G (p.Pro2318Arg)
c.7571C>G (p.Pro2524Arg)
c.5747C>G (p.Pro1916Arg)
c.5750C>G (p.Pro1917Arg)
n.1825C>G
c.6971C>G (p.Pro2324Arg)
c.6350C>G (p.Pro2117Arg)
c.7070C>G (p.Pro2357Arg)
c.7568C>G (p.Pro2523Arg)
c.5165C>G (p.Pro1722Arg)
2g.237344447G>TCA351202080COL6A3c.216C>A
c.6953C>A (p.Pro2318Gln)
c.7571C>A (p.Pro2524Gln)
c.5747C>A (p.Pro1916Gln)
c.5750C>A (p.Pro1917Gln)
n.1825C>A
c.6971C>A (p.Pro2324Gln)
c.6350C>A (p.Pro2117Gln)
c.7070C>A (p.Pro2357Gln)
c.7568C>A (p.Pro2523Gln)
c.5165C>A (p.Pro1722Gln)
 dbSNP
2g.237344448G>ACA351202090COL6A3c.215C>T
c.6952C>T (p.Pro2318Ser)
c.7570C>T (p.Pro2524Ser)
c.5746C>T (p.Pro1916Ser)
c.5749C>T (p.Pro1917Ser)
n.1824C>T
c.6970C>T (p.Pro2324Ser)
c.6349C>T (p.Pro2117Ser)
c.7069C>T (p.Pro2357Ser)
c.7567C>T (p.Pro2523Ser)
c.5164C>T (p.Pro1722Ser)
2g.237344448G>CCA351202081COL6A3c.215C>G
c.6952C>G (p.Pro2318Ala)
c.7570C>G (p.Pro2524Ala)
c.5746C>G (p.Pro1916Ala)
c.5749C>G (p.Pro1917Ala)
n.1824C>G
c.6970C>G (p.Pro2324Ala)
c.6349C>G (p.Pro2117Ala)
c.7069C>G (p.Pro2357Ala)
c.7567C>G (p.Pro2523Ala)
c.5164C>G (p.Pro1722Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.237344448G=CA1337610883COL6A3c.215C=
c.6952C= (p.Pro2318=)
c.7570C= (p.Pro2524=)
c.5746C= (p.Pro1916=)
c.5749C= (p.Pro1917=)
n.1824C=
c.6970C= (p.Pro2324=)
c.6349C= (p.Pro2117=)
c.7069C= (p.Pro2357=)
c.7567C= (p.Pro2523=)
c.5164C= (p.Pro1722=)
2g.237344448G>TCA351202083COL6A3c.215C>A
c.6952C>A (p.Pro2318Thr)
c.7570C>A (p.Pro2524Thr)
c.5746C>A (p.Pro1916Thr)
c.5749C>A (p.Pro1917Thr)
n.1824C>A
c.6970C>A (p.Pro2324Thr)
c.6349C>A (p.Pro2117Thr)
c.7069C>A (p.Pro2357Thr)
c.7567C>A (p.Pro2523Thr)
c.5164C>A (p.Pro1722Thr)
 COSMIC
2g.237344449G>ACA431710310COL6A3c.214C>T
c.6951C>T (p.Ser2317=)
c.7569C>T (p.Ser2523=)
c.5745C>T (p.Ser1915=)
c.5748C>T (p.Ser1916=)
n.1823C>T
c.6969C>T (p.Ser2323=)
c.6348C>T (p.Ser2116=)
c.7068C>T (p.Ser2356=)
c.7566C>T (p.Ser2522=)
c.5163C>T (p.Ser1721=)
2g.237344449G>CCA431710311COL6A3c.214C>G
c.6951C>G (p.Ser2317=)
c.7569C>G (p.Ser2523=)
c.5745C>G (p.Ser1915=)
c.5748C>G (p.Ser1916=)
n.1823C>G
c.6969C>G (p.Ser2323=)
c.6348C>G (p.Ser2116=)
c.7068C>G (p.Ser2356=)
c.7566C>G (p.Ser2522=)
c.5163C>G (p.Ser1721=)
2g.237344449G>TCA431710312COL6A3c.214C>A
c.6951C>A (p.Ser2317=)
c.7569C>A (p.Ser2523=)
c.5745C>A (p.Ser1915=)
c.5748C>A (p.Ser1916=)
n.1823C>A
c.6969C>A (p.Ser2323=)
c.6348C>A (p.Ser2116=)
c.7068C>A (p.Ser2356=)
c.7566C>A (p.Ser2522=)
c.5163C>A (p.Ser1721=)
2g.237344450G>ACA351202093COL6A3c.213C>T
c.6950C>T (p.Ser2317Phe)
c.7568C>T (p.Ser2523Phe)
c.5744C>T (p.Ser1915Phe)
c.5747C>T (p.Ser1916Phe)
n.1822C>T
c.6968C>T (p.Ser2323Phe)
c.6347C>T (p.Ser2116Phe)
c.7067C>T (p.Ser2356Phe)
c.7565C>T (p.Ser2522Phe)
c.5162C>T (p.Ser1721Phe)
 gnomAD v4
2g.237344450G>CCA351202098COL6A3c.213C>G
c.6950C>G (p.Ser2317Cys)
c.7568C>G (p.Ser2523Cys)
c.5744C>G (p.Ser1915Cys)
c.5747C>G (p.Ser1916Cys)
n.1822C>G
c.6968C>G (p.Ser2323Cys)
c.6347C>G (p.Ser2116Cys)
c.7067C>G (p.Ser2356Cys)
c.7565C>G (p.Ser2522Cys)
c.5162C>G (p.Ser1721Cys)
2g.237344450G>TCA351202100COL6A3c.213C>A
c.6950C>A (p.Ser2317Tyr)
c.7568C>A (p.Ser2523Tyr)
c.5744C>A (p.Ser1915Tyr)
c.5747C>A (p.Ser1916Tyr)
n.1822C>A
c.6968C>A (p.Ser2323Tyr)
c.6347C>A (p.Ser2116Tyr)
c.7067C>A (p.Ser2356Tyr)
c.7565C>A (p.Ser2522Tyr)
c.5162C>A (p.Ser1721Tyr)
2g.237344451A=CA1337610884COL6A3c.212T=
c.6949T= (p.Ser2317=)
c.7567T= (p.Ser2523=)
c.5743T= (p.Ser1915=)
c.5746T= (p.Ser1916=)
n.1821T=
c.6967T= (p.Ser2323=)
c.6346T= (p.Ser2116=)
c.7066T= (p.Ser2356=)
c.7564T= (p.Ser2522=)
c.5161T= (p.Ser1721=)
2g.237344451A>CCA351202103COL6A3c.212T>G
c.6949T>G (p.Ser2317Ala)
c.7567T>G (p.Ser2523Ala)
c.5743T>G (p.Ser1915Ala)
c.5746T>G (p.Ser1916Ala)
n.1821T>G
c.6967T>G (p.Ser2323Ala)
c.6346T>G (p.Ser2116Ala)
c.7066T>G (p.Ser2356Ala)
c.7564T>G (p.Ser2522Ala)
c.5161T>G (p.Ser1721Ala)
2g.237344451A>GCA351202106COL6A3c.212T>C
c.6949T>C (p.Ser2317Pro)
c.7567T>C (p.Ser2523Pro)
c.5743T>C (p.Ser1915Pro)
c.5746T>C (p.Ser1916Pro)
n.1821T>C
c.6967T>C (p.Ser2323Pro)
c.6346T>C (p.Ser2116Pro)
c.7066T>C (p.Ser2356Pro)
c.7564T>C (p.Ser2522Pro)
c.5161T>C (p.Ser1721Pro)
2g.237344451A>TCA67839083COL6A3c.212T>A
c.6949T>A (p.Ser2317Thr)
c.7567T>A (p.Ser2523Thr)
c.5743T>A (p.Ser1915Thr)
c.5746T>A (p.Ser1916Thr)
n.1821T>A
c.6967T>A (p.Ser2323Thr)
c.6346T>A (p.Ser2116Thr)
c.7066T>A (p.Ser2356Thr)
c.7564T>A (p.Ser2522Thr)
c.5161T>A (p.Ser1721Thr)
 dbSNP
2g.237344452T>ACA431710315COL6A3c.211A>T
c.6948A>T (p.Ala2316=)
c.7566A>T (p.Ala2522=)
c.5742A>T (p.Ala1914=)
c.5745A>T (p.Ala1915=)
n.1820A>T
c.6966A>T (p.Ala2322=)
c.6345A>T (p.Ala2115=)
c.7065A>T (p.Ala2355=)
c.7563A>T (p.Ala2521=)
c.5160A>T (p.Ala1720=)
2g.237344452T>CCA431710313COL6A3c.211A>G
c.6948A>G (p.Ala2316=)
c.7566A>G (p.Ala2522=)
c.5742A>G (p.Ala1914=)
c.5745A>G (p.Ala1915=)
n.1820A>G
c.6966A>G (p.Ala2322=)
c.6345A>G (p.Ala2115=)
c.7065A>G (p.Ala2355=)
c.7563A>G (p.Ala2521=)
c.5160A>G (p.Ala1720=)
2g.237344452T>GCA431710314COL6A3c.211A>C
c.6948A>C (p.Ala2316=)
c.7566A>C (p.Ala2522=)
c.5742A>C (p.Ala1914=)
c.5745A>C (p.Ala1915=)
n.1820A>C
c.6966A>C (p.Ala2322=)
c.6345A>C (p.Ala2115=)
c.7065A>C (p.Ala2355=)
c.7563A>C (p.Ala2521=)
c.5160A>C (p.Ala1720=)
2g.237344453G>ACA2187777COL6A3c.210C>T
c.6947C>T (p.Ala2316Val)
c.7565C>T (p.Ala2522Val)
c.5741C>T (p.Ala1914Val)
c.5744C>T (p.Ala1915Val)
n.1819C>T
c.6965C>T (p.Ala2322Val)
c.6344C>T (p.Ala2115Val)
c.7064C>T (p.Ala2355Val)
c.7562C>T (p.Ala2521Val)
c.5159C>T (p.Ala1720Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344453G>CCA351202113COL6A3c.210C>G
c.6947C>G (p.Ala2316Gly)
c.7565C>G (p.Ala2522Gly)
c.5741C>G (p.Ala1914Gly)
c.5744C>G (p.Ala1915Gly)
n.1819C>G
c.6965C>G (p.Ala2322Gly)
c.6344C>G (p.Ala2115Gly)
c.7064C>G (p.Ala2355Gly)
c.7562C>G (p.Ala2521Gly)
c.5159C>G (p.Ala1720Gly)
2g.237344453G=CA1337610885COL6A3c.210C=
c.6947C= (p.Ala2316=)
c.7565C= (p.Ala2522=)
c.5741C= (p.Ala1914=)
c.5744C= (p.Ala1915=)
n.1819C=
c.6965C= (p.Ala2322=)
c.6344C= (p.Ala2115=)
c.7064C= (p.Ala2355=)
c.7562C= (p.Ala2521=)
c.5159C= (p.Ala1720=)
2g.237344453G>TCA351202115COL6A3c.210C>A
c.6947C>A (p.Ala2316Glu)
c.7565C>A (p.Ala2522Glu)
c.5741C>A (p.Ala1914Glu)
c.5744C>A (p.Ala1915Glu)
n.1819C>A
c.6965C>A (p.Ala2322Glu)
c.6344C>A (p.Ala2115Glu)
c.7064C>A (p.Ala2355Glu)
c.7562C>A (p.Ala2521Glu)
c.5159C>A (p.Ala1720Glu)
2g.237344454C>ACA351202118COL6A3c.209G>T
c.6946G>T (p.Ala2316Ser)
c.7564G>T (p.Ala2522Ser)
c.5740G>T (p.Ala1914Ser)
c.5743G>T (p.Ala1915Ser)
n.1818G>T
c.6964G>T (p.Ala2322Ser)
c.6343G>T (p.Ala2115Ser)
c.7063G>T (p.Ala2355Ser)
c.7561G>T (p.Ala2521Ser)
c.5158G>T (p.Ala1720Ser)
 gnomAD v4
2g.237344454C=CA1337610886COL6A3c.209G=
c.6946G= (p.Ala2316=)
c.7564G= (p.Ala2522=)
c.5740G= (p.Ala1914=)
c.5743G= (p.Ala1915=)
n.1818G=
c.6964G= (p.Ala2322=)
c.6343G= (p.Ala2115=)
c.7063G= (p.Ala2355=)
c.7561G= (p.Ala2521=)
c.5158G= (p.Ala1720=)
2g.237344454C>GCA351202121COL6A3c.209G>C
c.6946G>C (p.Ala2316Pro)
c.7564G>C (p.Ala2522Pro)
c.5740G>C (p.Ala1914Pro)
c.5743G>C (p.Ala1915Pro)
n.1818G>C
c.6964G>C (p.Ala2322Pro)
c.6343G>C (p.Ala2115Pro)
c.7063G>C (p.Ala2355Pro)
c.7561G>C (p.Ala2521Pro)
c.5158G>C (p.Ala1720Pro)
2g.237344454C>TCA351202124COL6A3c.209G>A
c.6946G>A (p.Ala2316Thr)
c.7564G>A (p.Ala2522Thr)
c.5740G>A (p.Ala1914Thr)
c.5743G>A (p.Ala1915Thr)
n.1818G>A
c.6964G>A (p.Ala2322Thr)
c.6343G>A (p.Ala2115Thr)
c.7063G>A (p.Ala2355Thr)
c.7561G>A (p.Ala2521Thr)
c.5158G>A (p.Ala1720Thr)
 dbSNP
2g.237344455T>ACA351202126COL6A3c.208A>T
c.6945A>T (p.Arg2315Ser)
c.7563A>T (p.Arg2521Ser)
c.5739A>T (p.Arg1913Ser)
c.5742A>T (p.Arg1914Ser)
n.1817A>T
c.6963A>T (p.Arg2321Ser)
c.6342A>T (p.Arg2114Ser)
c.7062A>T (p.Arg2354Ser)
c.7560A>T (p.Arg2520Ser)
c.5157A>T (p.Arg1719Ser)
2g.237344455T>CCA431710316COL6A3c.208A>G
c.6945A>G (p.Arg2315=)
c.7563A>G (p.Arg2521=)
c.5739A>G (p.Arg1913=)
c.5742A>G (p.Arg1914=)
n.1817A>G
c.6963A>G (p.Arg2321=)
c.6342A>G (p.Arg2114=)
c.7062A>G (p.Arg2354=)
c.7560A>G (p.Arg2520=)
c.5157A>G (p.Arg1719=)
2g.237344455T>GCA351202128COL6A3c.208A>C
c.6945A>C (p.Arg2315Ser)
c.7563A>C (p.Arg2521Ser)
c.5739A>C (p.Arg1913Ser)
c.5742A>C (p.Arg1914Ser)
n.1817A>C
c.6963A>C (p.Arg2321Ser)
c.6342A>C (p.Arg2114Ser)
c.7062A>C (p.Arg2354Ser)
c.7560A>C (p.Arg2520Ser)
c.5157A>C (p.Arg1719Ser)
2g.237344456C>ACA351202131COL6A3c.207G>T
c.6944G>T (p.Arg2315Ile)
c.7562G>T (p.Arg2521Ile)
c.5738G>T (p.Arg1913Ile)
c.5741G>T (p.Arg1914Ile)
n.1816G>T
c.6962G>T (p.Arg2321Ile)
c.6341G>T (p.Arg2114Ile)
c.7061G>T (p.Arg2354Ile)
c.7559G>T (p.Arg2520Ile)
c.5156G>T (p.Arg1719Ile)
2g.237344456C>GCA351202136COL6A3c.207G>C
c.6944G>C (p.Arg2315Thr)
c.7562G>C (p.Arg2521Thr)
c.5738G>C (p.Arg1913Thr)
c.5741G>C (p.Arg1914Thr)
n.1816G>C
c.6962G>C (p.Arg2321Thr)
c.6341G>C (p.Arg2114Thr)
c.7061G>C (p.Arg2354Thr)
c.7559G>C (p.Arg2520Thr)
c.5156G>C (p.Arg1719Thr)
2g.237344456C>TCA351202133COL6A3c.207G>A
c.6944G>A (p.Arg2315Lys)
c.7562G>A (p.Arg2521Lys)
c.5738G>A (p.Arg1913Lys)
c.5741G>A (p.Arg1914Lys)
n.1816G>A
c.6962G>A (p.Arg2321Lys)
c.6341G>A (p.Arg2114Lys)
c.7061G>A (p.Arg2354Lys)
c.7559G>A (p.Arg2520Lys)
c.5156G>A (p.Arg1719Lys)
2g.237344457T>ACA351202141COL6A3c.206A>T
c.6943A>T (p.Arg2315Ter)
c.7561A>T (p.Arg2521Ter)
c.5737A>T (p.Arg1913Ter)
c.5740A>T (p.Arg1914Ter)
n.1815A>T
c.6961A>T (p.Arg2321Ter)
c.6340A>T (p.Arg2114Ter)
c.7060A>T (p.Arg2354Ter)
c.7558A>T (p.Arg2520Ter)
c.5155A>T (p.Arg1719Ter)
2g.237344457T>CCA351202144COL6A3c.206A>G
c.6943A>G (p.Arg2315Gly)
c.7561A>G (p.Arg2521Gly)
c.5737A>G (p.Arg1913Gly)
c.5740A>G (p.Arg1914Gly)
n.1815A>G
c.6961A>G (p.Arg2321Gly)
c.6340A>G (p.Arg2114Gly)
c.7060A>G (p.Arg2354Gly)
c.7558A>G (p.Arg2520Gly)
c.5155A>G (p.Arg1719Gly)
 gnomAD v4
2g.237344457T>GCA431710320COL6A3c.206A>C
c.6943A>C (p.Arg2315=)
c.7561A>C (p.Arg2521=)
c.5737A>C (p.Arg1913=)
c.5740A>C (p.Arg1914=)
n.1815A>C
c.6961A>C (p.Arg2321=)
c.6340A>C (p.Arg2114=)
c.7060A>C (p.Arg2354=)
c.7558A>C (p.Arg2520=)
c.5155A>C (p.Arg1719=)
2g.237344458T>ACA431710322COL6A3c.205A>T
c.6942A>T (p.Thr2314=)
c.7560A>T (p.Thr2520=)
c.5736A>T (p.Thr1912=)
c.5739A>T (p.Thr1913=)
n.1814A>T
c.6960A>T (p.Thr2320=)
c.6339A>T (p.Thr2113=)
c.7059A>T (p.Thr2353=)
c.7557A>T (p.Thr2519=)
c.5154A>T (p.Thr1718=)
2g.237344458T>CCA431710324COL6A3c.205A>G
c.6942A>G (p.Thr2314=)
c.7560A>G (p.Thr2520=)
c.5736A>G (p.Thr1912=)
c.5739A>G (p.Thr1913=)
n.1814A>G
c.6960A>G (p.Thr2320=)
c.6339A>G (p.Thr2113=)
c.7059A>G (p.Thr2353=)
c.7557A>G (p.Thr2519=)
c.5154A>G (p.Thr1718=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237344458T>GCA431710326COL6A3c.205A>C
c.6942A>C (p.Thr2314=)
c.7560A>C (p.Thr2520=)
c.5736A>C (p.Thr1912=)
c.5739A>C (p.Thr1913=)
n.1814A>C
c.6960A>C (p.Thr2320=)
c.6339A>C (p.Thr2113=)
c.7059A>C (p.Thr2353=)
c.7557A>C (p.Thr2519=)
c.5154A>C (p.Thr1718=)
2g.237344458T=CA1337610887COL6A3c.205A=
c.6942A= (p.Thr2314=)
c.7560A= (p.Thr2520=)
c.5736A= (p.Thr1912=)
c.5739A= (p.Thr1913=)
n.1814A=
c.6960A= (p.Thr2320=)
c.6339A= (p.Thr2113=)
c.7059A= (p.Thr2353=)
c.7557A= (p.Thr2519=)
c.5154A= (p.Thr1718=)
2g.237344459G>ACA351202146COL6A3c.204C>T
c.6941C>T (p.Thr2314Ile)
c.7559C>T (p.Thr2520Ile)
c.5735C>T (p.Thr1912Ile)
c.5738C>T (p.Thr1913Ile)
n.1813C>T
c.6959C>T (p.Thr2320Ile)
c.6338C>T (p.Thr2113Ile)
c.7058C>T (p.Thr2353Ile)
c.7556C>T (p.Thr2519Ile)
c.5153C>T (p.Thr1718Ile)
2g.237344459G>CCA351202149COL6A3c.204C>G
c.6941C>G (p.Thr2314Arg)
c.7559C>G (p.Thr2520Arg)
c.5735C>G (p.Thr1912Arg)
c.5738C>G (p.Thr1913Arg)
n.1813C>G
c.6959C>G (p.Thr2320Arg)
c.6338C>G (p.Thr2113Arg)
c.7058C>G (p.Thr2353Arg)
c.7556C>G (p.Thr2519Arg)
c.5153C>G (p.Thr1718Arg)
2g.237344459G>TCA351202151COL6A3c.204C>A
c.6941C>A (p.Thr2314Lys)
c.7559C>A (p.Thr2520Lys)
c.5735C>A (p.Thr1912Lys)
c.5738C>A (p.Thr1913Lys)
n.1813C>A
c.6959C>A (p.Thr2320Lys)
c.6338C>A (p.Thr2113Lys)
c.7058C>A (p.Thr2353Lys)
c.7556C>A (p.Thr2519Lys)
c.5153C>A (p.Thr1718Lys)
2g.237344460T>ACA2187778COL6A3c.203A>T
c.6940A>T (p.Thr2314Ser)
c.7558A>T (p.Thr2520Ser)
c.5734A>T (p.Thr1912Ser)
c.5737A>T (p.Thr1913Ser)
n.1812A>T
c.6958A>T (p.Thr2320Ser)
c.6337A>T (p.Thr2113Ser)
c.7057A>T (p.Thr2353Ser)
c.7555A>T (p.Thr2519Ser)
c.5152A>T (p.Thr1718Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344460T>CCA67839107COL6A3c.203A>G
c.6940A>G (p.Thr2314Ala)
c.7558A>G (p.Thr2520Ala)
c.5734A>G (p.Thr1912Ala)
c.5737A>G (p.Thr1913Ala)
n.1812A>G
c.6958A>G (p.Thr2320Ala)
c.6337A>G (p.Thr2113Ala)
c.7057A>G (p.Thr2353Ala)
c.7555A>G (p.Thr2519Ala)
c.5152A>G (p.Thr1718Ala)
 dbSNP
2g.237344460T>GCA351202159COL6A3c.203A>C
c.6940A>C (p.Thr2314Pro)
c.7558A>C (p.Thr2520Pro)
c.5734A>C (p.Thr1912Pro)
c.5737A>C (p.Thr1913Pro)
n.1812A>C
c.6958A>C (p.Thr2320Pro)
c.6337A>C (p.Thr2113Pro)
c.7057A>C (p.Thr2353Pro)
c.7555A>C (p.Thr2519Pro)
c.5152A>C (p.Thr1718Pro)
2g.237344460T=CA1337610888COL6A3c.203A=
c.6940A= (p.Thr2314=)
c.7558A= (p.Thr2520=)
c.5734A= (p.Thr1912=)
c.5737A= (p.Thr1913=)
n.1812A=
c.6958A= (p.Thr2320=)
c.6337A= (p.Thr2113=)
c.7057A= (p.Thr2353=)
c.7555A= (p.Thr2519=)
c.5152A= (p.Thr1718=)
2g.237344461G>ACA431710328COL6A3c.202C>T
c.6939C>T (p.Pro2313=)
c.7557C>T (p.Pro2519=)
c.5733C>T (p.Pro1911=)
c.5736C>T (p.Pro1912=)
n.1811C>T
c.6957C>T (p.Pro2319=)
c.6336C>T (p.Pro2112=)
c.7056C>T (p.Pro2352=)
c.7554C>T (p.Pro2518=)
c.5151C>T (p.Pro1717=)
 dbSNP gnomAD v2
2g.237344461G>CCA431710332COL6A3c.202C>G
c.6939C>G (p.Pro2313=)
c.7557C>G (p.Pro2519=)
c.5733C>G (p.Pro1911=)
c.5736C>G (p.Pro1912=)
n.1811C>G
c.6957C>G (p.Pro2319=)
c.6336C>G (p.Pro2112=)
c.7056C>G (p.Pro2352=)
c.7554C>G (p.Pro2518=)
c.5151C>G (p.Pro1717=)
2g.237344461G=CA1337610889COL6A3c.202C=
c.6939C= (p.Pro2313=)
c.7557C= (p.Pro2519=)
c.5733C= (p.Pro1911=)
c.5736C= (p.Pro1912=)
n.1811C=
c.6957C= (p.Pro2319=)
c.6336C= (p.Pro2112=)
c.7056C= (p.Pro2352=)
c.7554C= (p.Pro2518=)
c.5151C= (p.Pro1717=)
2g.237344461G>TCA431710330COL6A3c.202C>A
c.6939C>A (p.Pro2313=)
c.7557C>A (p.Pro2519=)
c.5733C>A (p.Pro1911=)
c.5736C>A (p.Pro1912=)
n.1811C>A
c.6957C>A (p.Pro2319=)
c.6336C>A (p.Pro2112=)
c.7056C>A (p.Pro2352=)
c.7554C>A (p.Pro2518=)
c.5151C>A (p.Pro1717=)
2g.237344462G>ACA351202162COL6A3c.201C>T
c.6938C>T (p.Pro2313Leu)
c.7556C>T (p.Pro2519Leu)
c.5732C>T (p.Pro1911Leu)
c.5735C>T (p.Pro1912Leu)
n.1810C>T
c.6956C>T (p.Pro2319Leu)
c.6335C>T (p.Pro2112Leu)
c.7055C>T (p.Pro2352Leu)
c.7553C>T (p.Pro2518Leu)
c.5150C>T (p.Pro1717Leu)
2g.237344462G>CCA351202164COL6A3c.201C>G
c.6938C>G (p.Pro2313Arg)
c.7556C>G (p.Pro2519Arg)
c.5732C>G (p.Pro1911Arg)
c.5735C>G (p.Pro1912Arg)
n.1810C>G
c.6956C>G (p.Pro2319Arg)
c.6335C>G (p.Pro2112Arg)
c.7055C>G (p.Pro2352Arg)
c.7553C>G (p.Pro2518Arg)
c.5150C>G (p.Pro1717Arg)
 gnomAD v4
2g.237344462G>TCA351202167COL6A3c.201C>A
c.6938C>A (p.Pro2313His)
c.7556C>A (p.Pro2519His)
c.5732C>A (p.Pro1911His)
c.5735C>A (p.Pro1912His)
n.1810C>A
c.6956C>A (p.Pro2319His)
c.6335C>A (p.Pro2112His)
c.7055C>A (p.Pro2352His)
c.7553C>A (p.Pro2518His)
c.5150C>A (p.Pro1717His)
 gnomAD v4
2g.237344463G>ACA351202176COL6A3c.200C>T
c.6937C>T (p.Pro2313Ser)
c.7555C>T (p.Pro2519Ser)
c.5731C>T (p.Pro1911Ser)
c.5734C>T (p.Pro1912Ser)
n.1809C>T
c.6955C>T (p.Pro2319Ser)
c.6334C>T (p.Pro2112Ser)
c.7054C>T (p.Pro2352Ser)
c.7552C>T (p.Pro2518Ser)
c.5149C>T (p.Pro1717Ser)
2g.237344463G>CCA351202173COL6A3c.200C>G
c.6937C>G (p.Pro2313Ala)
c.7555C>G (p.Pro2519Ala)
c.5731C>G (p.Pro1911Ala)
c.5734C>G (p.Pro1912Ala)
n.1809C>G
c.6955C>G (p.Pro2319Ala)
c.6334C>G (p.Pro2112Ala)
c.7054C>G (p.Pro2352Ala)
c.7552C>G (p.Pro2518Ala)
c.5149C>G (p.Pro1717Ala)
2g.237344463G>TCA351202171COL6A3c.200C>A
c.6937C>A (p.Pro2313Thr)
c.7555C>A (p.Pro2519Thr)
c.5731C>A (p.Pro1911Thr)
c.5734C>A (p.Pro1912Thr)
n.1809C>A
c.6955C>A (p.Pro2319Thr)
c.6334C>A (p.Pro2112Thr)
c.7054C>A (p.Pro2352Thr)
c.7552C>A (p.Pro2518Thr)
c.5149C>A (p.Pro1717Thr)
2g.237344464T>ACA431710335COL6A3c.199A>T
c.6936A>T (p.Thr2312=)
c.7554A>T (p.Thr2518=)
c.5730A>T (p.Thr1910=)
c.5733A>T (p.Thr1911=)
n.1808A>T
c.6954A>T (p.Thr2318=)
c.6333A>T (p.Thr2111=)
c.7053A>T (p.Thr2351=)
c.7551A>T (p.Thr2517=)
c.5148A>T (p.Thr1716=)
2g.237344464T>CCA431710333COL6A3c.199A>G
c.6936A>G (p.Thr2312=)
c.7554A>G (p.Thr2518=)
c.5730A>G (p.Thr1910=)
c.5733A>G (p.Thr1911=)
n.1808A>G
c.6954A>G (p.Thr2318=)
c.6333A>G (p.Thr2111=)
c.7053A>G (p.Thr2351=)
c.7551A>G (p.Thr2517=)
c.5148A>G (p.Thr1716=)
 dbSNP
2g.237344464T>GCA431710334COL6A3c.199A>C
c.6936A>C (p.Thr2312=)
c.7554A>C (p.Thr2518=)
c.5730A>C (p.Thr1910=)
c.5733A>C (p.Thr1911=)
n.1808A>C
c.6954A>C (p.Thr2318=)
c.6333A>C (p.Thr2111=)
c.7053A>C (p.Thr2351=)
c.7551A>C (p.Thr2517=)
c.5148A>C (p.Thr1716=)
2g.237344465G>ACA351202178COL6A3c.198C>T
c.6935C>T (p.Thr2312Ile)
c.7553C>T (p.Thr2518Ile)
c.5729C>T (p.Thr1910Ile)
c.5732C>T (p.Thr1911Ile)
n.1807C>T
c.6953C>T (p.Thr2318Ile)
c.6332C>T (p.Thr2111Ile)
c.7052C>T (p.Thr2351Ile)
c.7550C>T (p.Thr2517Ile)
c.5147C>T (p.Thr1716Ile)
2g.237344465G>CCA351202181COL6A3c.198C>G
c.6935C>G (p.Thr2312Arg)
c.7553C>G (p.Thr2518Arg)
c.5729C>G (p.Thr1910Arg)
c.5732C>G (p.Thr1911Arg)
n.1807C>G
c.6953C>G (p.Thr2318Arg)
c.6332C>G (p.Thr2111Arg)
c.7052C>G (p.Thr2351Arg)
c.7550C>G (p.Thr2517Arg)
c.5147C>G (p.Thr1716Arg)
2g.237344465G>TCA351202186COL6A3c.198C>A
c.6935C>A (p.Thr2312Lys)
c.7553C>A (p.Thr2518Lys)
c.5729C>A (p.Thr1910Lys)
c.5732C>A (p.Thr1911Lys)
n.1807C>A
c.6953C>A (p.Thr2318Lys)
c.6332C>A (p.Thr2111Lys)
c.7052C>A (p.Thr2351Lys)
c.7550C>A (p.Thr2517Lys)
c.5147C>A (p.Thr1716Lys)
2g.237344466T>ACA351202190COL6A3c.197A>T
c.6934A>T (p.Thr2312Ser)
c.7552A>T (p.Thr2518Ser)
c.5728A>T (p.Thr1910Ser)
c.5731A>T (p.Thr1911Ser)
n.1806A>T
c.6952A>T (p.Thr2318Ser)
c.6331A>T (p.Thr2111Ser)
c.7051A>T (p.Thr2351Ser)
c.7549A>T (p.Thr2517Ser)
c.5146A>T (p.Thr1716Ser)
2g.237344466T>CCA351202192COL6A3c.197A>G
c.6934A>G (p.Thr2312Ala)
c.7552A>G (p.Thr2518Ala)
c.5728A>G (p.Thr1910Ala)
c.5731A>G (p.Thr1911Ala)
n.1806A>G
c.6952A>G (p.Thr2318Ala)
c.6331A>G (p.Thr2111Ala)
c.7051A>G (p.Thr2351Ala)
c.7549A>G (p.Thr2517Ala)
c.5146A>G (p.Thr1716Ala)
 gnomAD v4
2g.237344466T>GCA351202195COL6A3c.197A>C
c.6934A>C (p.Thr2312Pro)
c.7552A>C (p.Thr2518Pro)
c.5728A>C (p.Thr1910Pro)
c.5731A>C (p.Thr1911Pro)
n.1806A>C
c.6952A>C (p.Thr2318Pro)
c.6331A>C (p.Thr2111Pro)
c.7051A>C (p.Thr2351Pro)
c.7549A>C (p.Thr2517Pro)
c.5146A>C (p.Thr1716Pro)
 gnomAD v4
2g.237344467G>ACA2187779COL6A3c.196C>T
c.6933C>T (p.Asn2311=)
c.7551C>T (p.Asn2517=)
c.5727C>T (p.Asn1909=)
c.5730C>T (p.Asn1910=)
n.1805C>T
c.6951C>T (p.Asn2317=)
c.6330C>T (p.Asn2110=)
c.7050C>T (p.Asn2350=)
c.7548C>T (p.Asn2516=)
c.5145C>T (p.Asn1715=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344467G>CCA351202201COL6A3c.196C>G
c.6933C>G (p.Asn2311Lys)
c.7551C>G (p.Asn2517Lys)
c.5727C>G (p.Asn1909Lys)
c.5730C>G (p.Asn1910Lys)
n.1805C>G
c.6951C>G (p.Asn2317Lys)
c.6330C>G (p.Asn2110Lys)
c.7050C>G (p.Asn2350Lys)
c.7548C>G (p.Asn2516Lys)
c.5145C>G (p.Asn1715Lys)
2g.237344467G=CA1337610890COL6A3c.196C=
c.6933C= (p.Asn2311=)
c.7551C= (p.Asn2517=)
c.5727C= (p.Asn1909=)
c.5730C= (p.Asn1910=)
n.1805C=
c.6951C= (p.Asn2317=)
c.6330C= (p.Asn2110=)
c.7050C= (p.Asn2350=)
c.7548C= (p.Asn2516=)
c.5145C= (p.Asn1715=)
2g.237344467G>TCA351202203COL6A3c.196C>A
c.6933C>A (p.Asn2311Lys)
c.7551C>A (p.Asn2517Lys)
c.5727C>A (p.Asn1909Lys)
c.5730C>A (p.Asn1910Lys)
n.1805C>A
c.6951C>A (p.Asn2317Lys)
c.6330C>A (p.Asn2110Lys)
c.7050C>A (p.Asn2350Lys)
c.7548C>A (p.Asn2516Lys)
c.5145C>A (p.Asn1715Lys)
2g.237344468T>ACA351202207COL6A3c.195A>T
c.6932A>T (p.Asn2311Ile)
c.7550A>T (p.Asn2517Ile)
c.5726A>T (p.Asn1909Ile)
c.5729A>T (p.Asn1910Ile)
n.1804A>T
c.6950A>T (p.Asn2317Ile)
c.6329A>T (p.Asn2110Ile)
c.7049A>T (p.Asn2350Ile)
c.7547A>T (p.Asn2516Ile)
c.5144A>T (p.Asn1715Ile)
2g.237344468T>CCA2187780COL6A3c.195A>G
c.6932A>G (p.Asn2311Ser)
c.7550A>G (p.Asn2517Ser)
c.5726A>G (p.Asn1909Ser)
c.5729A>G (p.Asn1910Ser)
n.1804A>G
c.6950A>G (p.Asn2317Ser)
c.6329A>G (p.Asn2110Ser)
c.7049A>G (p.Asn2350Ser)
c.7547A>G (p.Asn2516Ser)
c.5144A>G (p.Asn1715Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344468T>GCA351202210COL6A3c.195A>C
c.6932A>C (p.Asn2311Thr)
c.7550A>C (p.Asn2517Thr)
c.5726A>C (p.Asn1909Thr)
c.5729A>C (p.Asn1910Thr)
n.1804A>C
c.6950A>C (p.Asn2317Thr)
c.6329A>C (p.Asn2110Thr)
c.7049A>C (p.Asn2350Thr)
c.7547A>C (p.Asn2516Thr)
c.5144A>C (p.Asn1715Thr)
2g.237344468T=CA1337610891COL6A3c.195A=
c.6932A= (p.Asn2311=)
c.7550A= (p.Asn2517=)
c.5726A= (p.Asn1909=)
c.5729A= (p.Asn1910=)
n.1804A=
c.6950A= (p.Asn2317=)
c.6329A= (p.Asn2110=)
c.7049A= (p.Asn2350=)
c.7547A= (p.Asn2516=)
c.5144A= (p.Asn1715=)
2g.237344469T>ACA351202222COL6A3c.194A>T
c.6931A>T (p.Asn2311Tyr)
c.7549A>T (p.Asn2517Tyr)
c.5725A>T (p.Asn1909Tyr)
c.5728A>T (p.Asn1910Tyr)
n.1803A>T
c.6949A>T (p.Asn2317Tyr)
c.6328A>T (p.Asn2110Tyr)
c.7048A>T (p.Asn2350Tyr)
c.7546A>T (p.Asn2516Tyr)
c.5143A>T (p.Asn1715Tyr)
2g.237344469T>CCA351202217COL6A3c.194A>G
c.6931A>G (p.Asn2311Asp)
c.7549A>G (p.Asn2517Asp)
c.5725A>G (p.Asn1909Asp)
c.5728A>G (p.Asn1910Asp)
n.1803A>G
c.6949A>G (p.Asn2317Asp)
c.6328A>G (p.Asn2110Asp)
c.7048A>G (p.Asn2350Asp)
c.7546A>G (p.Asn2516Asp)
c.5143A>G (p.Asn1715Asp)
2g.237344469T>GCA351202214COL6A3c.194A>C
c.6931A>C (p.Asn2311His)
c.7549A>C (p.Asn2517His)
c.5725A>C (p.Asn1909His)
c.5728A>C (p.Asn1910His)
n.1803A>C
c.6949A>C (p.Asn2317His)
c.6328A>C (p.Asn2110His)
c.7048A>C (p.Asn2350His)
c.7546A>C (p.Asn2516His)
c.5143A>C (p.Asn1715His)
2g.237344470G>ACA431710336COL6A3c.193C>T
c.6930C>T (p.Ser2310=)
c.7548C>T (p.Ser2516=)
c.5724C>T (p.Ser1908=)
c.5727C>T (p.Ser1909=)
n.1802C>T
c.6948C>T (p.Ser2316=)
c.6327C>T (p.Ser2109=)
c.7047C>T (p.Ser2349=)
c.7545C>T (p.Ser2515=)
c.5142C>T (p.Ser1714=)
2g.237344470G>CCA351202223COL6A3c.193C>G
c.6930C>G (p.Ser2310Arg)
c.7548C>G (p.Ser2516Arg)
c.5724C>G (p.Ser1908Arg)
c.5727C>G (p.Ser1909Arg)
n.1802C>G
c.6948C>G (p.Ser2316Arg)
c.6327C>G (p.Ser2109Arg)
c.7047C>G (p.Ser2349Arg)
c.7545C>G (p.Ser2515Arg)
c.5142C>G (p.Ser1714Arg)
2g.237344470G>TCA351202225COL6A3c.193C>A
c.6930C>A (p.Ser2310Arg)
c.7548C>A (p.Ser2516Arg)
c.5724C>A (p.Ser1908Arg)
c.5727C>A (p.Ser1909Arg)
n.1802C>A
c.6948C>A (p.Ser2316Arg)
c.6327C>A (p.Ser2109Arg)
c.7047C>A (p.Ser2349Arg)
c.7545C>A (p.Ser2515Arg)
c.5142C>A (p.Ser1714Arg)
2g.237344471C>ACA351202229COL6A3c.192G>T
c.6929G>T (p.Ser2310Ile)
c.7547G>T (p.Ser2516Ile)
c.5723G>T (p.Ser1908Ile)
c.5726G>T (p.Ser1909Ile)
n.1801G>T
c.6947G>T (p.Ser2316Ile)
c.6326G>T (p.Ser2109Ile)
c.7046G>T (p.Ser2349Ile)
c.7544G>T (p.Ser2515Ile)
c.5141G>T (p.Ser1714Ile)
2g.237344471C=CA1337610892COL6A3c.192G=
c.6929G= (p.Ser2310=)
c.7547G= (p.Ser2516=)
c.5723G= (p.Ser1908=)
c.5726G= (p.Ser1909=)
n.1801G=
c.6947G= (p.Ser2316=)
c.6326G= (p.Ser2109=)
c.7046G= (p.Ser2349=)
c.7544G= (p.Ser2515=)
c.5141G= (p.Ser1714=)
2g.237344471C>GCA2187781COL6A3c.192G>C
c.6929G>C (p.Ser2310Thr)
c.7547G>C (p.Ser2516Thr)
c.5723G>C (p.Ser1908Thr)
c.5726G>C (p.Ser1909Thr)
n.1801G>C
c.6947G>C (p.Ser2316Thr)
c.6326G>C (p.Ser2109Thr)
c.7046G>C (p.Ser2349Thr)
c.7544G>C (p.Ser2515Thr)
c.5141G>C (p.Ser1714Thr)
 dbSNP ExAC
2g.237344471C>TCA351202234COL6A3c.192G>A
c.6929G>A (p.Ser2310Asn)
c.7547G>A (p.Ser2516Asn)
c.5723G>A (p.Ser1908Asn)
c.5726G>A (p.Ser1909Asn)
n.1801G>A
c.6947G>A (p.Ser2316Asn)
c.6326G>A (p.Ser2109Asn)
c.7046G>A (p.Ser2349Asn)
c.7544G>A (p.Ser2515Asn)
c.5141G>A (p.Ser1714Asn)
2g.237344472T>ACA2187782COL6A3c.191A>T
c.6928A>T (p.Ser2310Cys)
c.7546A>T (p.Ser2516Cys)
c.5722A>T (p.Ser1908Cys)
c.5725A>T (p.Ser1909Cys)
n.1800A>T
c.6946A>T (p.Ser2316Cys)
c.6325A>T (p.Ser2109Cys)
c.7045A>T (p.Ser2349Cys)
c.7543A>T (p.Ser2515Cys)
c.5140A>T (p.Ser1714Cys)
 dbSNP ExAC
2g.237344472T>CCA67839134COL6A3c.191A>G
c.6928A>G (p.Ser2310Gly)
c.7546A>G (p.Ser2516Gly)
c.5722A>G (p.Ser1908Gly)
c.5725A>G (p.Ser1909Gly)
n.1800A>G
c.6946A>G (p.Ser2316Gly)
c.6325A>G (p.Ser2109Gly)
c.7045A>G (p.Ser2349Gly)
c.7543A>G (p.Ser2515Gly)
c.5140A>G (p.Ser1714Gly)
 ClinVar dbSNP
2g.237344472T>GCA2187783COL6A3c.191A>C
c.6928A>C (p.Ser2310Arg)
c.7546A>C (p.Ser2516Arg)
c.5722A>C (p.Ser1908Arg)
c.5725A>C (p.Ser1909Arg)
n.1800A>C
c.6946A>C (p.Ser2316Arg)
c.6325A>C (p.Ser2109Arg)
c.7045A>C (p.Ser2349Arg)
c.7543A>C (p.Ser2515Arg)
c.5140A>C (p.Ser1714Arg)
 dbSNP ExAC
2g.237344472T=CA1337610893COL6A3c.191A=
c.6928A= (p.Ser2310=)
c.7546A= (p.Ser2516=)
c.5722A= (p.Ser1908=)
c.5725A= (p.Ser1909=)
n.1800A=
c.6946A= (p.Ser2316=)
c.6325A= (p.Ser2109=)
c.7045A= (p.Ser2349=)
c.7543A= (p.Ser2515=)
c.5140A= (p.Ser1714=)
2g.237344473G>ACA2187784COL6A3c.190C>T
c.6927C>T (p.Phe2309=)
c.7545C>T (p.Phe2515=)
c.5721C>T (p.Phe1907=)
c.5724C>T (p.Phe1908=)
n.1799C>T
c.6945C>T (p.Phe2315=)
c.6324C>T (p.Phe2108=)
c.7044C>T (p.Phe2348=)
c.7542C>T (p.Phe2514=)
c.5139C>T (p.Phe1713=)
 dbSNP ExAC gnomAD v2
2g.237344473G>CCA351202258COL6A3c.190C>G
c.6927C>G (p.Phe2309Leu)
c.7545C>G (p.Phe2515Leu)
c.5721C>G (p.Phe1907Leu)
c.5724C>G (p.Phe1908Leu)
n.1799C>G
c.6945C>G (p.Phe2315Leu)
c.6324C>G (p.Phe2108Leu)
c.7044C>G (p.Phe2348Leu)
c.7542C>G (p.Phe2514Leu)
c.5139C>G (p.Phe1713Leu)
2g.237344473G=CA1337610894COL6A3c.190C=
c.6927C= (p.Phe2309=)
c.7545C= (p.Phe2515=)
c.5721C= (p.Phe1907=)
c.5724C= (p.Phe1908=)
n.1799C=
c.6945C= (p.Phe2315=)
c.6324C= (p.Phe2108=)
c.7044C= (p.Phe2348=)
c.7542C= (p.Phe2514=)
c.5139C= (p.Phe1713=)
2g.237344473G>TCA351202270COL6A3c.190C>A
c.6927C>A (p.Phe2309Leu)
c.7545C>A (p.Phe2515Leu)
c.5721C>A (p.Phe1907Leu)
c.5724C>A (p.Phe1908Leu)
n.1799C>A
c.6945C>A (p.Phe2315Leu)
c.6324C>A (p.Phe2108Leu)
c.7044C>A (p.Phe2348Leu)
c.7542C>A (p.Phe2514Leu)
c.5139C>A (p.Phe1713Leu)
2g.237344474A>CCA351202274COL6A3c.189T>G
c.6926T>G (p.Phe2309Cys)
c.7544T>G (p.Phe2515Cys)
c.5720T>G (p.Phe1907Cys)
c.5723T>G (p.Phe1908Cys)
n.1798T>G
c.6944T>G (p.Phe2315Cys)
c.6323T>G (p.Phe2108Cys)
c.7043T>G (p.Phe2348Cys)
c.7541T>G (p.Phe2514Cys)
c.5138T>G (p.Phe1713Cys)
2g.237344474A>GCA351202277COL6A3c.189T>C
c.6926T>C (p.Phe2309Ser)
c.7544T>C (p.Phe2515Ser)
c.5720T>C (p.Phe1907Ser)
c.5723T>C (p.Phe1908Ser)
n.1798T>C
c.6944T>C (p.Phe2315Ser)
c.6323T>C (p.Phe2108Ser)
c.7043T>C (p.Phe2348Ser)
c.7541T>C (p.Phe2514Ser)
c.5138T>C (p.Phe1713Ser)
2g.237344474A>TCA351202280COL6A3c.189T>A
c.6926T>A (p.Phe2309Tyr)
c.7544T>A (p.Phe2515Tyr)
c.5720T>A (p.Phe1907Tyr)
c.5723T>A (p.Phe1908Tyr)
n.1798T>A
c.6944T>A (p.Phe2315Tyr)
c.6323T>A (p.Phe2108Tyr)
c.7043T>A (p.Phe2348Tyr)
c.7541T>A (p.Phe2514Tyr)
c.5138T>A (p.Phe1713Tyr)
2g.237344475A>CCA351202281COL6A3c.188T>G
c.6925T>G (p.Phe2309Val)
c.7543T>G (p.Phe2515Val)
c.5719T>G (p.Phe1907Val)
c.5722T>G (p.Phe1908Val)
n.1797T>G
c.6943T>G (p.Phe2315Val)
c.6322T>G (p.Phe2108Val)
c.7042T>G (p.Phe2348Val)
c.7540T>G (p.Phe2514Val)
c.5137T>G (p.Phe1713Val)
2g.237344475A>GCA351202287COL6A3c.188T>C
c.6925T>C (p.Phe2309Leu)
c.7543T>C (p.Phe2515Leu)
c.5719T>C (p.Phe1907Leu)
c.5722T>C (p.Phe1908Leu)
n.1797T>C
c.6943T>C (p.Phe2315Leu)
c.6322T>C (p.Phe2108Leu)
c.7042T>C (p.Phe2348Leu)
c.7540T>C (p.Phe2514Leu)
c.5137T>C (p.Phe1713Leu)
2g.237344475A>TCA351202283COL6A3c.188T>A
c.6925T>A (p.Phe2309Ile)
c.7543T>A (p.Phe2515Ile)
c.5719T>A (p.Phe1907Ile)
c.5722T>A (p.Phe1908Ile)
n.1797T>A
c.6943T>A (p.Phe2315Ile)
c.6322T>A (p.Phe2108Ile)
c.7042T>A (p.Phe2348Ile)
c.7540T>A (p.Phe2514Ile)
c.5137T>A (p.Phe1713Ile)
2g.237344475_237344476delinsAGCA1337610895COL6A3c.187_188delinsCT
c.6924_6925delinsCT (p.Phe2308=)
c.7542_7543delinsCT (p.Phe2514=)
c.5718_5719delinsCT (p.Phe1906=)
c.5721_5722delinsCT (p.Phe1907=)
n.1796_1797delinsCT
c.6942_6943delinsCT (p.Phe2314=)
c.6321_6322delinsCT (p.Phe2107=)
c.7041_7042delinsCT (p.Phe2347=)
c.7539_7540delinsCT (p.Phe2513=)
c.5136_5137delinsCT (p.Phe1712=)
2g.237344476delCA10605613COL6A3c.187del
c.6924del (p.Phe2309SerfsTer?)
c.7542del (p.Phe2515SerfsTer?)
c.5718del (p.Phe1907SerfsTer?)
c.5721del (p.Phe1908SerfsTer?)
n.1796del
c.6942del (p.Phe2315SerfsTer?)
c.6321del (p.Phe2108SerfsTer?)
c.7041del (p.Phe2348SerfsTer?)
c.7539del (p.Phe2514SerfsTer?)
c.5136del (p.Phe1713SerfsTer?)
 ClinVar dbSNP
2g.237344476G>ACA2187785COL6A3c.187C>T
c.6924C>T (p.Phe2308=)
c.7542C>T (p.Phe2514=)
c.5718C>T (p.Phe1906=)
c.5721C>T (p.Phe1907=)
n.1796C>T
c.6942C>T (p.Phe2314=)
c.6321C>T (p.Phe2107=)
c.7041C>T (p.Phe2347=)
c.7539C>T (p.Phe2513=)
c.5136C>T (p.Phe1712=)
 dbSNP ExAC gnomAD v2
2g.237344476G>CCA67839152COL6A3c.187C>G
c.6924C>G (p.Phe2308Leu)
c.7542C>G (p.Phe2514Leu)
c.5718C>G (p.Phe1906Leu)
c.5721C>G (p.Phe1907Leu)
n.1796C>G
c.6942C>G (p.Phe2314Leu)
c.6321C>G (p.Phe2107Leu)
c.7041C>G (p.Phe2347Leu)
c.7539C>G (p.Phe2513Leu)
c.5136C>G (p.Phe1712Leu)
 dbSNP
2g.237344476G=CA1337610896COL6A3c.187C=
c.6924C= (p.Phe2308=)
c.7542C= (p.Phe2514=)
c.5718C= (p.Phe1906=)
c.5721C= (p.Phe1907=)
n.1796C=
c.6942C= (p.Phe2314=)
c.6321C= (p.Phe2107=)
c.7041C= (p.Phe2347=)
c.7539C= (p.Phe2513=)
c.5136C= (p.Phe1712=)
2g.237344476G>TCA351202292COL6A3c.187C>A
c.6924C>A (p.Phe2308Leu)
c.7542C>A (p.Phe2514Leu)
c.5718C>A (p.Phe1906Leu)
c.5721C>A (p.Phe1907Leu)
n.1796C>A
c.6942C>A (p.Phe2314Leu)
c.6321C>A (p.Phe2107Leu)
c.7041C>A (p.Phe2347Leu)
c.7539C>A (p.Phe2513Leu)
c.5136C>A (p.Phe1712Leu)
2g.237344477A=CA1337610897COL6A3c.186T=
c.6923T= (p.Phe2308=)
c.7541T= (p.Phe2514=)
c.5717T= (p.Phe1906=)
c.5720T= (p.Phe1907=)
n.1795T=
c.6941T= (p.Phe2314=)
c.6320T= (p.Phe2107=)
c.7040T= (p.Phe2347=)
c.7538T= (p.Phe2513=)
c.5135T= (p.Phe1712=)
2g.237344477A>CCA351202296COL6A3c.186T>G
c.6923T>G (p.Phe2308Cys)
c.7541T>G (p.Phe2514Cys)
c.5717T>G (p.Phe1906Cys)
c.5720T>G (p.Phe1907Cys)
n.1795T>G
c.6941T>G (p.Phe2314Cys)
c.6320T>G (p.Phe2107Cys)
c.7040T>G (p.Phe2347Cys)
c.7538T>G (p.Phe2513Cys)
c.5135T>G (p.Phe1712Cys)
2g.237344477A>GCA351202297COL6A3c.186T>C
c.6923T>C (p.Phe2308Ser)
c.7541T>C (p.Phe2514Ser)
c.5717T>C (p.Phe1906Ser)
c.5720T>C (p.Phe1907Ser)
n.1795T>C
c.6941T>C (p.Phe2314Ser)
c.6320T>C (p.Phe2107Ser)
c.7040T>C (p.Phe2347Ser)
c.7538T>C (p.Phe2513Ser)
c.5135T>C (p.Phe1712Ser)
2g.237344477A>TCA2187786COL6A3c.186T>A
c.6923T>A (p.Phe2308Tyr)
c.7541T>A (p.Phe2514Tyr)
c.5717T>A (p.Phe1906Tyr)
c.5720T>A (p.Phe1907Tyr)
n.1795T>A
c.6941T>A (p.Phe2314Tyr)
c.6320T>A (p.Phe2107Tyr)
c.7040T>A (p.Phe2347Tyr)
c.7538T>A (p.Phe2513Tyr)
c.5135T>A (p.Phe1712Tyr)
 dbSNP ExAC gnomAD v2
2g.237344478A>CCA351202299COL6A3c.185T>G
c.6922T>G (p.Phe2308Val)
c.7540T>G (p.Phe2514Val)
c.5716T>G (p.Phe1906Val)
c.5719T>G (p.Phe1907Val)
n.1794T>G
c.6940T>G (p.Phe2314Val)
c.6319T>G (p.Phe2107Val)
c.7039T>G (p.Phe2347Val)
c.7537T>G (p.Phe2513Val)
c.5134T>G (p.Phe1712Val)
2g.237344478A>GCA351202301COL6A3c.185T>C
c.6922T>C (p.Phe2308Leu)
c.7540T>C (p.Phe2514Leu)
c.5716T>C (p.Phe1906Leu)
c.5719T>C (p.Phe1907Leu)
n.1794T>C
c.6940T>C (p.Phe2314Leu)
c.6319T>C (p.Phe2107Leu)
c.7039T>C (p.Phe2347Leu)
c.7537T>C (p.Phe2513Leu)
c.5134T>C (p.Phe1712Leu)
2g.237344478A>TCA351202303COL6A3c.185T>A
c.6922T>A (p.Phe2308Ile)
c.7540T>A (p.Phe2514Ile)
c.5716T>A (p.Phe1906Ile)
c.5719T>A (p.Phe1907Ile)
n.1794T>A
c.6940T>A (p.Phe2314Ile)
c.6319T>A (p.Phe2107Ile)
c.7039T>A (p.Phe2347Ile)
c.7537T>A (p.Phe2513Ile)
c.5134T>A (p.Phe1712Ile)
2g.237344479A=CA1337610898COL6A3c.184T=
c.6921T= (p.Val2307=)
c.7539T= (p.Val2513=)
c.5715T= (p.Val1905=)
c.5718T= (p.Val1906=)
n.1793T=
c.6939T= (p.Val2313=)
c.6318T= (p.Val2106=)
c.7038T= (p.Val2346=)
c.7536T= (p.Val2512=)
c.5133T= (p.Val1711=)
2g.237344479A>CCA431710342COL6A3c.184T>G
c.6921T>G (p.Val2307=)
c.7539T>G (p.Val2513=)
c.5715T>G (p.Val1905=)
c.5718T>G (p.Val1906=)
n.1793T>G
c.6939T>G (p.Val2313=)
c.6318T>G (p.Val2106=)
c.7038T>G (p.Val2346=)
c.7536T>G (p.Val2512=)
c.5133T>G (p.Val1711=)
2g.237344479A>GCA2187787COL6A3c.184T>C
c.6921T>C (p.Val2307=)
c.7539T>C (p.Val2513=)
c.5715T>C (p.Val1905=)
c.5718T>C (p.Val1906=)
n.1793T>C
c.6939T>C (p.Val2313=)
c.6318T>C (p.Val2106=)
c.7038T>C (p.Val2346=)
c.7536T>C (p.Val2512=)
c.5133T>C (p.Val1711=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344479A>TCA431710343COL6A3c.184T>A
c.6921T>A (p.Val2307=)
c.7539T>A (p.Val2513=)
c.5715T>A (p.Val1905=)
c.5718T>A (p.Val1906=)
n.1793T>A
c.6939T>A (p.Val2313=)
c.6318T>A (p.Val2106=)
c.7038T>A (p.Val2346=)
c.7536T>A (p.Val2512=)
c.5133T>A (p.Val1711=)
2g.237344480A=CA1337610899COL6A3c.183T=
c.6920T= (p.Val2307=)
c.7538T= (p.Val2513=)
c.5714T= (p.Val1905=)
c.5717T= (p.Val1906=)
n.1792T=
c.6938T= (p.Val2313=)
c.6317T= (p.Val2106=)
c.7037T= (p.Val2346=)
c.7535T= (p.Val2512=)
c.5132T= (p.Val1711=)
2g.237344480A>CCA2187788COL6A3c.183T>G
c.6920T>G (p.Val2307Gly)
c.7538T>G (p.Val2513Gly)
c.5714T>G (p.Val1905Gly)
c.5717T>G (p.Val1906Gly)
n.1792T>G
c.6938T>G (p.Val2313Gly)
c.6317T>G (p.Val2106Gly)
c.7037T>G (p.Val2346Gly)
c.7535T>G (p.Val2512Gly)
c.5132T>G (p.Val1711Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344480A>GCA351202315COL6A3c.183T>C
c.6920T>C (p.Val2307Ala)
c.7538T>C (p.Val2513Ala)
c.5714T>C (p.Val1905Ala)
c.5717T>C (p.Val1906Ala)
n.1792T>C
c.6938T>C (p.Val2313Ala)
c.6317T>C (p.Val2106Ala)
c.7037T>C (p.Val2346Ala)
c.7535T>C (p.Val2512Ala)
c.5132T>C (p.Val1711Ala)
2g.237344480A>TCA351202310COL6A3c.183T>A
c.6920T>A (p.Val2307Asp)
c.7538T>A (p.Val2513Asp)
c.5714T>A (p.Val1905Asp)
c.5717T>A (p.Val1906Asp)
n.1792T>A
c.6938T>A (p.Val2313Asp)
c.6317T>A (p.Val2106Asp)
c.7037T>A (p.Val2346Asp)
c.7535T>A (p.Val2512Asp)
c.5132T>A (p.Val1711Asp)
2g.237344481C>ACA351202324COL6A3c.182G>T
c.6919G>T (p.Val2307Phe)
c.7537G>T (p.Val2513Phe)
c.5713G>T (p.Val1905Phe)
c.5716G>T (p.Val1906Phe)
n.1791G>T
c.6937G>T (p.Val2313Phe)
c.6316G>T (p.Val2106Phe)
c.7036G>T (p.Val2346Phe)
c.7534G>T (p.Val2512Phe)
c.5131G>T (p.Val1711Phe)
2g.237344481C=CA1337610901COL6A3c.182G=
c.6919G= (p.Val2307=)
c.7537G= (p.Val2513=)
c.5713G= (p.Val1905=)
c.5716G= (p.Val1906=)
n.1791G=
c.6937G= (p.Val2313=)
c.6316G= (p.Val2106=)
c.7036G= (p.Val2346=)
c.7534G= (p.Val2512=)
c.5131G= (p.Val1711=)
2g.237344481C>GCA351202321COL6A3c.182G>C
c.6919G>C (p.Val2307Leu)
c.7537G>C (p.Val2513Leu)
c.5713G>C (p.Val1905Leu)
c.5716G>C (p.Val1906Leu)
n.1791G>C
c.6937G>C (p.Val2313Leu)
c.6316G>C (p.Val2106Leu)
c.7036G>C (p.Val2346Leu)
c.7534G>C (p.Val2512Leu)
c.5131G>C (p.Val1711Leu)
2g.237344481C>TCA67839181COL6A3c.182G>A
c.6919G>A (p.Val2307Ile)
c.7537G>A (p.Val2513Ile)
c.5713G>A (p.Val1905Ile)
c.5716G>A (p.Val1906Ile)
n.1791G>A
c.6937G>A (p.Val2313Ile)
c.6316G>A (p.Val2106Ile)
c.7036G>A (p.Val2346Ile)
c.7534G>A (p.Val2512Ile)
c.5131G>A (p.Val1711Ile)
 dbSNP gnomAD v4
2g.237344481dupCA1337610900COL6A3c.182dup
c.6919dup (p.Val2307GlyfsTer?)
c.7537dup (p.Val2513GlyfsTer?)
c.5713dup (p.Val1905GlyfsTer?)
c.5716dup (p.Val1906GlyfsTer?)
n.1791dup
c.6937dup (p.Val2313GlyfsTer?)
c.6316dup (p.Val2106GlyfsTer?)
c.7036dup (p.Val2346GlyfsTer?)
c.7534dup (p.Val2512GlyfsTer?)
c.5131dup (p.Val1711GlyfsTer?)
 dbSNP
2g.237344482delCA2577289642COL6A3c.181del
c.6918del (p.Val2307PhefsTer?)
c.7536del (p.Val2513PhefsTer?)
c.5712del (p.Val1905PhefsTer?)
c.5715del (p.Val1906PhefsTer?)
n.1790del
c.6936del (p.Val2313PhefsTer?)
c.6315del (p.Val2106PhefsTer?)
c.7035del (p.Val2346PhefsTer?)
c.7533del (p.Val2512PhefsTer?)
c.5130del (p.Val1711PhefsTer?)
2g.237344482A>CCA431710345COL6A3c.181T>G
c.6918T>G (p.Ala2306=)
c.7536T>G (p.Ala2512=)
c.5712T>G (p.Ala1904=)
c.5715T>G (p.Ala1905=)
n.1790T>G
c.6936T>G (p.Ala2312=)
c.6315T>G (p.Ala2105=)
c.7035T>G (p.Ala2345=)
c.7533T>G (p.Ala2511=)
c.5130T>G (p.Ala1710=)
2g.237344482A>GCA431710347COL6A3c.181T>C
c.6918T>C (p.Ala2306=)
c.7536T>C (p.Ala2512=)
c.5712T>C (p.Ala1904=)
c.5715T>C (p.Ala1905=)
n.1790T>C
c.6936T>C (p.Ala2312=)
c.6315T>C (p.Ala2105=)
c.7035T>C (p.Ala2345=)
c.7533T>C (p.Ala2511=)
c.5130T>C (p.Ala1710=)
 gnomAD v4
2g.237344482A>TCA431710346COL6A3c.181T>A
c.6918T>A (p.Ala2306=)
c.7536T>A (p.Ala2512=)
c.5712T>A (p.Ala1904=)
c.5715T>A (p.Ala1905=)
n.1790T>A
c.6936T>A (p.Ala2312=)
c.6315T>A (p.Ala2105=)
c.7035T>A (p.Ala2345=)
c.7533T>A (p.Ala2511=)
c.5130T>A (p.Ala1710=)
2g.237344483G>ACA351202328COL6A3c.180C>T
c.6917C>T (p.Ala2306Val)
c.7535C>T (p.Ala2512Val)
c.5711C>T (p.Ala1904Val)
c.5714C>T (p.Ala1905Val)
n.1789C>T
c.6935C>T (p.Ala2312Val)
c.6314C>T (p.Ala2105Val)
c.7034C>T (p.Ala2345Val)
c.7532C>T (p.Ala2511Val)
c.5129C>T (p.Ala1710Val)
 gnomAD v4
2g.237344483G>CCA351202334COL6A3c.180C>G
c.6917C>G (p.Ala2306Gly)
c.7535C>G (p.Ala2512Gly)
c.5711C>G (p.Ala1904Gly)
c.5714C>G (p.Ala1905Gly)
n.1789C>G
c.6935C>G (p.Ala2312Gly)
c.6314C>G (p.Ala2105Gly)
c.7034C>G (p.Ala2345Gly)
c.7532C>G (p.Ala2511Gly)
c.5129C>G (p.Ala1710Gly)
2g.237344483G>TCA351202337COL6A3c.180C>A
c.6917C>A (p.Ala2306Asp)
c.7535C>A (p.Ala2512Asp)
c.5711C>A (p.Ala1904Asp)
c.5714C>A (p.Ala1905Asp)
n.1789C>A
c.6935C>A (p.Ala2312Asp)
c.6314C>A (p.Ala2105Asp)
c.7034C>A (p.Ala2345Asp)
c.7532C>A (p.Ala2511Asp)
c.5129C>A (p.Ala1710Asp)
2g.237344484C>ACA351202340COL6A3c.179G>T
c.6916G>T (p.Ala2306Ser)
c.7534G>T (p.Ala2512Ser)
c.5710G>T (p.Ala1904Ser)
c.5713G>T (p.Ala1905Ser)
n.1788G>T
c.6934G>T (p.Ala2312Ser)
c.6313G>T (p.Ala2105Ser)
c.7033G>T (p.Ala2345Ser)
c.7531G>T (p.Ala2511Ser)
c.5128G>T (p.Ala1710Ser)
2g.237344484C=CA1337610902COL6A3c.179G=
c.6916G= (p.Ala2306=)
c.7534G= (p.Ala2512=)
c.5710G= (p.Ala1904=)
c.5713G= (p.Ala1905=)
n.1788G=
c.6934G= (p.Ala2312=)
c.6313G= (p.Ala2105=)
c.7033G= (p.Ala2345=)
c.7531G= (p.Ala2511=)
c.5128G= (p.Ala1710=)
2g.237344484C>GCA351202342COL6A3c.179G>C
c.6916G>C (p.Ala2306Pro)
c.7534G>C (p.Ala2512Pro)
c.5710G>C (p.Ala1904Pro)
c.5713G>C (p.Ala1905Pro)
n.1788G>C
c.6934G>C (p.Ala2312Pro)
c.6313G>C (p.Ala2105Pro)
c.7033G>C (p.Ala2345Pro)
c.7531G>C (p.Ala2511Pro)
c.5128G>C (p.Ala1710Pro)
2g.237344484C>TCA67839186COL6A3c.179G>A
c.6916G>A (p.Ala2306Thr)
c.7534G>A (p.Ala2512Thr)
c.5710G>A (p.Ala1904Thr)
c.5713G>A (p.Ala1905Thr)
n.1788G>A
c.6934G>A (p.Ala2312Thr)
c.6313G>A (p.Ala2105Thr)
c.7033G>A (p.Ala2345Thr)
c.7531G>A (p.Ala2511Thr)
c.5128G>A (p.Ala1710Thr)
 dbSNP
2g.237344485C>ACA431710353COL6A3c.178G>T
c.6915G>T (p.Val2305=)
c.7533G>T (p.Val2511=)
c.5709G>T (p.Val1903=)
c.5712G>T (p.Val1904=)
n.1787G>T
c.6933G>T (p.Val2311=)
c.6312G>T (p.Val2104=)
c.7032G>T (p.Val2344=)
c.7530G>T (p.Val2510=)
c.5127G>T (p.Val1709=)
2g.237344485C>GCA431710351COL6A3c.178G>C
c.6915G>C (p.Val2305=)
c.7533G>C (p.Val2511=)
c.5709G>C (p.Val1903=)
c.5712G>C (p.Val1904=)
n.1787G>C
c.6933G>C (p.Val2311=)
c.6312G>C (p.Val2104=)
c.7032G>C (p.Val2344=)
c.7530G>C (p.Val2510=)
c.5127G>C (p.Val1709=)
2g.237344485C>TCA431710352COL6A3c.178G>A
c.6915G>A (p.Val2305=)
c.7533G>A (p.Val2511=)
c.5709G>A (p.Val1903=)
c.5712G>A (p.Val1904=)
n.1787G>A
c.6933G>A (p.Val2311=)
c.6312G>A (p.Val2104=)
c.7032G>A (p.Val2344=)
c.7530G>A (p.Val2510=)
c.5127G>A (p.Val1709=)
2g.237344486A=CA1337610903COL6A3c.177T=
c.6914T= (p.Val2305=)
c.7532T= (p.Val2511=)
c.5708T= (p.Val1903=)
c.5711T= (p.Val1904=)
n.1786T=
c.6932T= (p.Val2311=)
c.6311T= (p.Val2104=)
c.7031T= (p.Val2344=)
c.7529T= (p.Val2510=)
c.5126T= (p.Val1709=)
2g.237344486A>CCA351202345COL6A3c.177T>G
c.6914T>G (p.Val2305Gly)
c.7532T>G (p.Val2511Gly)
c.5708T>G (p.Val1903Gly)
c.5711T>G (p.Val1904Gly)
n.1786T>G
c.6932T>G (p.Val2311Gly)
c.6311T>G (p.Val2104Gly)
c.7031T>G (p.Val2344Gly)
c.7529T>G (p.Val2510Gly)
c.5126T>G (p.Val1709Gly)
2g.237344486A>GCA351202346COL6A3c.177T>C
c.6914T>C (p.Val2305Ala)
c.7532T>C (p.Val2511Ala)
c.5708T>C (p.Val1903Ala)
c.5711T>C (p.Val1904Ala)
n.1786T>C
c.6932T>C (p.Val2311Ala)
c.6311T>C (p.Val2104Ala)
c.7031T>C (p.Val2344Ala)
c.7529T>C (p.Val2510Ala)
c.5126T>C (p.Val1709Ala)
2g.237344486A>TCA2187789COL6A3c.177T>A
c.6914T>A (p.Val2305Glu)
c.7532T>A (p.Val2511Glu)
c.5708T>A (p.Val1903Glu)
c.5711T>A (p.Val1904Glu)
n.1786T>A
c.6932T>A (p.Val2311Glu)
c.6311T>A (p.Val2104Glu)
c.7031T>A (p.Val2344Glu)
c.7529T>A (p.Val2510Glu)
c.5126T>A (p.Val1709Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344487C>ACA351202348COL6A3c.176G>T
c.6913G>T (p.Val2305Leu)
c.7531G>T (p.Val2511Leu)
c.5707G>T (p.Val1903Leu)
c.5710G>T (p.Val1904Leu)
n.1785G>T
c.6931G>T (p.Val2311Leu)
c.6310G>T (p.Val2104Leu)
c.7030G>T (p.Val2344Leu)
c.7528G>T (p.Val2510Leu)
c.5125G>T (p.Val1709Leu)
2g.237344487C>GCA351202350COL6A3c.176G>C
c.6913G>C (p.Val2305Leu)
c.7531G>C (p.Val2511Leu)
c.5707G>C (p.Val1903Leu)
c.5710G>C (p.Val1904Leu)
n.1785G>C
c.6931G>C (p.Val2311Leu)
c.6310G>C (p.Val2104Leu)
c.7030G>C (p.Val2344Leu)
c.7528G>C (p.Val2510Leu)
c.5125G>C (p.Val1709Leu)
2g.237344487C>TCA351202353COL6A3c.176G>A
c.6913G>A (p.Val2305Met)
c.7531G>A (p.Val2511Met)
c.5707G>A (p.Val1903Met)
c.5710G>A (p.Val1904Met)
n.1785G>A
c.6931G>A (p.Val2311Met)
c.6310G>A (p.Val2104Met)
c.7030G>A (p.Val2344Met)
c.7528G>A (p.Val2510Met)
c.5125G>A (p.Val1709Met)
2g.237344488T>ACA351202356COL6A3c.175A>T
c.6912A>T (p.Lys2304Asn)
c.7530A>T (p.Lys2510Asn)
c.5706A>T (p.Lys1902Asn)
c.5709A>T (p.Lys1903Asn)
n.1784A>T
c.6930A>T (p.Lys2310Asn)
c.6309A>T (p.Lys2103Asn)
c.7029A>T (p.Lys2343Asn)
c.7527A>T (p.Lys2509Asn)
c.5124A>T (p.Lys1708Asn)
2g.237344488T>CCA431710356COL6A3c.175A>G
c.6912A>G (p.Lys2304=)
c.7530A>G (p.Lys2510=)
c.5706A>G (p.Lys1902=)
c.5709A>G (p.Lys1903=)
n.1784A>G
c.6930A>G (p.Lys2310=)
c.6309A>G (p.Lys2103=)
c.7029A>G (p.Lys2343=)
c.7527A>G (p.Lys2509=)
c.5124A>G (p.Lys1708=)
 dbSNP gnomAD v2 gnomAD v4
2g.237344488T>GCA351202355COL6A3c.175A>C
c.6912A>C (p.Lys2304Asn)
c.7530A>C (p.Lys2510Asn)
c.5706A>C (p.Lys1902Asn)
c.5709A>C (p.Lys1903Asn)
n.1784A>C
c.6930A>C (p.Lys2310Asn)
c.6309A>C (p.Lys2103Asn)
c.7029A>C (p.Lys2343Asn)
c.7527A>C (p.Lys2509Asn)
c.5124A>C (p.Lys1708Asn)
2g.237344488T=CA1337610904COL6A3c.175A=
c.6912A= (p.Lys2304=)
c.7530A= (p.Lys2510=)
c.5706A= (p.Lys1902=)
c.5709A= (p.Lys1903=)
n.1784A=
c.6930A= (p.Lys2310=)
c.6309A= (p.Lys2103=)
c.7029A= (p.Lys2343=)
c.7527A= (p.Lys2509=)
c.5124A= (p.Lys1708=)
2g.237344489T>ACA351202360COL6A3c.174A>T
c.6911A>T (p.Lys2304Ile)
c.7529A>T (p.Lys2510Ile)
c.5705A>T (p.Lys1902Ile)
c.5708A>T (p.Lys1903Ile)
n.1783A>T
c.6929A>T (p.Lys2310Ile)
c.6308A>T (p.Lys2103Ile)
c.7028A>T (p.Lys2343Ile)
c.7526A>T (p.Lys2509Ile)
c.5123A>T (p.Lys1708Ile)
2g.237344489T>CCA351202362COL6A3c.174A>G
c.6911A>G (p.Lys2304Arg)
c.7529A>G (p.Lys2510Arg)
c.5705A>G (p.Lys1902Arg)
c.5708A>G (p.Lys1903Arg)
n.1783A>G
c.6929A>G (p.Lys2310Arg)
c.6308A>G (p.Lys2103Arg)
c.7028A>G (p.Lys2343Arg)
c.7526A>G (p.Lys2509Arg)
c.5123A>G (p.Lys1708Arg)
2g.237344489T>GCA351202365COL6A3c.174A>C
c.6911A>C (p.Lys2304Thr)
c.7529A>C (p.Lys2510Thr)
c.5705A>C (p.Lys1902Thr)
c.5708A>C (p.Lys1903Thr)
n.1783A>C
c.6929A>C (p.Lys2310Thr)
c.6308A>C (p.Lys2103Thr)
c.7028A>C (p.Lys2343Thr)
c.7526A>C (p.Lys2509Thr)
c.5123A>C (p.Lys1708Thr)
2g.237344490T>ACA351202368COL6A3c.173A>T
c.6910A>T (p.Lys2304Ter)
c.7528A>T (p.Lys2510Ter)
c.5704A>T (p.Lys1902Ter)
c.5707A>T (p.Lys1903Ter)
n.1782A>T
c.6928A>T (p.Lys2310Ter)
c.6307A>T (p.Lys2103Ter)
c.7027A>T (p.Lys2343Ter)
c.7525A>T (p.Lys2509Ter)
c.5122A>T (p.Lys1708Ter)
2g.237344490T>CCA351202371COL6A3c.173A>G
c.6910A>G (p.Lys2304Glu)
c.7528A>G (p.Lys2510Glu)
c.5704A>G (p.Lys1902Glu)
c.5707A>G (p.Lys1903Glu)
n.1782A>G
c.6928A>G (p.Lys2310Glu)
c.6307A>G (p.Lys2103Glu)
c.7027A>G (p.Lys2343Glu)
c.7525A>G (p.Lys2509Glu)
c.5122A>G (p.Lys1708Glu)
2g.237344490T>GCA351202373COL6A3c.173A>C
c.6910A>C (p.Lys2304Gln)
c.7528A>C (p.Lys2510Gln)
c.5704A>C (p.Lys1902Gln)
c.5707A>C (p.Lys1903Gln)
n.1782A>C
c.6928A>C (p.Lys2310Gln)
c.6307A>C (p.Lys2103Gln)
c.7027A>C (p.Lys2343Gln)
c.7525A>C (p.Lys2509Gln)
c.5122A>C (p.Lys1708Gln)
2g.237344491C>ACA351202376COL6A3c.172G>T
c.6909G>T (p.Arg2303Ser)
c.7527G>T (p.Arg2509Ser)
c.5703G>T (p.Arg1901Ser)
c.5706G>T (p.Arg1902Ser)
n.1781G>T
c.6927G>T (p.Arg2309Ser)
c.6306G>T (p.Arg2102Ser)
c.7026G>T (p.Arg2342Ser)
c.7524G>T (p.Arg2508Ser)
c.5121G>T (p.Arg1707Ser)
2g.237344491C>GCA351202377COL6A3c.172G>C
c.6909G>C (p.Arg2303Ser)
c.7527G>C (p.Arg2509Ser)
c.5703G>C (p.Arg1901Ser)
c.5706G>C (p.Arg1902Ser)
n.1781G>C
c.6927G>C (p.Arg2309Ser)
c.6306G>C (p.Arg2102Ser)
c.7026G>C (p.Arg2342Ser)
c.7524G>C (p.Arg2508Ser)
c.5121G>C (p.Arg1707Ser)
2g.237344491C>TCA431710358COL6A3c.172G>A
c.6909G>A (p.Arg2303=)
c.7527G>A (p.Arg2509=)
c.5703G>A (p.Arg1901=)
c.5706G>A (p.Arg1902=)
n.1781G>A
c.6927G>A (p.Arg2309=)
c.6306G>A (p.Arg2102=)
c.7026G>A (p.Arg2342=)
c.7524G>A (p.Arg2508=)
c.5121G>A (p.Arg1707=)
2g.237344492C>ACA351202381COL6A3c.171G>T
c.6908G>T (p.Arg2303Met)
c.7526G>T (p.Arg2509Met)
c.5702G>T (p.Arg1901Met)
c.5705G>T (p.Arg1902Met)
n.1780G>T
c.6926G>T (p.Arg2309Met)
c.6305G>T (p.Arg2102Met)
c.7025G>T (p.Arg2342Met)
c.7523G>T (p.Arg2508Met)
c.5120G>T (p.Arg1707Met)
2g.237344492C>GCA351202383COL6A3c.171G>C
c.6908G>C (p.Arg2303Thr)
c.7526G>C (p.Arg2509Thr)
c.5702G>C (p.Arg1901Thr)
c.5705G>C (p.Arg1902Thr)
n.1780G>C
c.6926G>C (p.Arg2309Thr)
c.6305G>C (p.Arg2102Thr)
c.7025G>C (p.Arg2342Thr)
c.7523G>C (p.Arg2508Thr)
c.5120G>C (p.Arg1707Thr)
2g.237344492C>TCA351202384COL6A3c.171G>A
c.6908G>A (p.Arg2303Lys)
c.7526G>A (p.Arg2509Lys)
c.5702G>A (p.Arg1901Lys)
c.5705G>A (p.Arg1902Lys)
n.1780G>A
c.6926G>A (p.Arg2309Lys)
c.6305G>A (p.Arg2102Lys)
c.7025G>A (p.Arg2342Lys)
c.7523G>A (p.Arg2508Lys)
c.5120G>A (p.Arg1707Lys)
2g.237344493T>ACA351202385COL6A3c.170A>T
c.6907A>T (p.Arg2303Trp)
c.7525A>T (p.Arg2509Trp)
c.5701A>T (p.Arg1901Trp)
c.5704A>T (p.Arg1902Trp)
n.1779A>T
c.6925A>T (p.Arg2309Trp)
c.6304A>T (p.Arg2102Trp)
c.7024A>T (p.Arg2342Trp)
c.7522A>T (p.Arg2508Trp)
c.5119A>T (p.Arg1707Trp)
2g.237344493T>CCA351202386COL6A3c.170A>G
c.6907A>G (p.Arg2303Gly)
c.7525A>G (p.Arg2509Gly)
c.5701A>G (p.Arg1901Gly)
c.5704A>G (p.Arg1902Gly)
n.1779A>G
c.6925A>G (p.Arg2309Gly)
c.6304A>G (p.Arg2102Gly)
c.7024A>G (p.Arg2342Gly)
c.7522A>G (p.Arg2508Gly)
c.5119A>G (p.Arg1707Gly)
2g.237344493T>GCA431710359COL6A3c.170A>C
c.6907A>C (p.Arg2303=)
c.7525A>C (p.Arg2509=)
c.5701A>C (p.Arg1901=)
c.5704A>C (p.Arg1902=)
n.1779A>C
c.6925A>C (p.Arg2309=)
c.6304A>C (p.Arg2102=)
c.7024A>C (p.Arg2342=)
c.7522A>C (p.Arg2508=)
c.5119A>C (p.Arg1707=)
2g.237344494C>ACA351202390COL6A3c.169G>T
c.6906G>T (p.Met2302Ile)
c.7524G>T (p.Met2508Ile)
c.5700G>T (p.Met1900Ile)
c.5703G>T (p.Met1901Ile)
n.1778G>T
c.6924G>T (p.Met2308Ile)
c.6303G>T (p.Met2101Ile)
c.7023G>T (p.Met2341Ile)
c.7521G>T (p.Met2507Ile)
c.5118G>T (p.Met1706Ile)
 ClinVar
2g.237344494C=CA1337610905COL6A3c.169G=
c.6906G= (p.Met2302=)
c.7524G= (p.Met2508=)
c.5700G= (p.Met1900=)
c.5703G= (p.Met1901=)
n.1778G=
c.6924G= (p.Met2308=)
c.6303G= (p.Met2101=)
c.7023G= (p.Met2341=)
c.7521G= (p.Met2507=)
c.5118G= (p.Met1706=)
2g.237344494C>GCA351202392COL6A3c.169G>C
c.6906G>C (p.Met2302Ile)
c.7524G>C (p.Met2508Ile)
c.5700G>C (p.Met1900Ile)
c.5703G>C (p.Met1901Ile)
n.1778G>C
c.6924G>C (p.Met2308Ile)
c.6303G>C (p.Met2101Ile)
c.7023G>C (p.Met2341Ile)
c.7521G>C (p.Met2507Ile)
c.5118G>C (p.Met1706Ile)
2g.237344494C>TCA351202388COL6A3c.169G>A
c.6906G>A (p.Met2302Ile)
c.7524G>A (p.Met2508Ile)
c.5700G>A (p.Met1900Ile)
c.5703G>A (p.Met1901Ile)
n.1778G>A
c.6924G>A (p.Met2308Ile)
c.6303G>A (p.Met2101Ile)
c.7023G>A (p.Met2341Ile)
c.7521G>A (p.Met2507Ile)
c.5118G>A (p.Met1706Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.237344495A>CCA351202395COL6A3c.168T>G
c.6905T>G (p.Met2302Arg)
c.7523T>G (p.Met2508Arg)
c.5699T>G (p.Met1900Arg)
c.5702T>G (p.Met1901Arg)
n.1777T>G
c.6923T>G (p.Met2308Arg)
c.6302T>G (p.Met2101Arg)
c.7022T>G (p.Met2341Arg)
c.7520T>G (p.Met2507Arg)
c.5117T>G (p.Met1706Arg)
2g.237344495A>GCA351202397COL6A3c.168T>C
c.6905T>C (p.Met2302Thr)
c.7523T>C (p.Met2508Thr)
c.5699T>C (p.Met1900Thr)
c.5702T>C (p.Met1901Thr)
n.1777T>C
c.6923T>C (p.Met2308Thr)
c.6302T>C (p.Met2101Thr)
c.7022T>C (p.Met2341Thr)
c.7520T>C (p.Met2507Thr)
c.5117T>C (p.Met1706Thr)
2g.237344495A>TCA351202399COL6A3c.168T>A
c.6905T>A (p.Met2302Lys)
c.7523T>A (p.Met2508Lys)
c.5699T>A (p.Met1900Lys)
c.5702T>A (p.Met1901Lys)
n.1777T>A
c.6923T>A (p.Met2308Lys)
c.6302T>A (p.Met2101Lys)
c.7022T>A (p.Met2341Lys)
c.7520T>A (p.Met2507Lys)
c.5117T>A (p.Met1706Lys)
2g.237344496T>ACA351202403COL6A3c.167A>T
c.6904A>T (p.Met2302Leu)
c.7522A>T (p.Met2508Leu)
c.5698A>T (p.Met1900Leu)
c.5701A>T (p.Met1901Leu)
n.1776A>T
c.6922A>T (p.Met2308Leu)
c.6301A>T (p.Met2101Leu)
c.7021A>T (p.Met2341Leu)
c.7519A>T (p.Met2507Leu)
c.5116A>T (p.Met1706Leu)
2g.237344496T>CCA351202407COL6A3c.167A>G
c.6904A>G (p.Met2302Val)
c.7522A>G (p.Met2508Val)
c.5698A>G (p.Met1900Val)
c.5701A>G (p.Met1901Val)
n.1776A>G
c.6922A>G (p.Met2308Val)
c.6301A>G (p.Met2101Val)
c.7021A>G (p.Met2341Val)
c.7519A>G (p.Met2507Val)
c.5116A>G (p.Met1706Val)
2g.237344496T>GCA351202411COL6A3c.167A>C
c.6904A>C (p.Met2302Leu)
c.7522A>C (p.Met2508Leu)
c.5698A>C (p.Met1900Leu)
c.5701A>C (p.Met1901Leu)
n.1776A>C
c.6922A>C (p.Met2308Leu)
c.6301A>C (p.Met2101Leu)
c.7021A>C (p.Met2341Leu)
c.7519A>C (p.Met2507Leu)
c.5116A>C (p.Met1706Leu)
2g.237344497T>ACA431710363COL6A3c.166A>T
c.6903A>T (p.Leu2301=)
c.7521A>T (p.Leu2507=)
c.5697A>T (p.Leu1899=)
c.5700A>T (p.Leu1900=)
n.1775A>T
c.6921A>T (p.Leu2307=)
c.6300A>T (p.Leu2100=)
c.7020A>T (p.Leu2340=)
c.7518A>T (p.Leu2506=)
c.5115A>T (p.Leu1705=)
2g.237344497T>CCA431710365COL6A3c.166A>G
c.6903A>G (p.Leu2301=)
c.7521A>G (p.Leu2507=)
c.5697A>G (p.Leu1899=)
c.5700A>G (p.Leu1900=)
n.1775A>G
c.6921A>G (p.Leu2307=)
c.6300A>G (p.Leu2100=)
c.7020A>G (p.Leu2340=)
c.7518A>G (p.Leu2506=)
c.5115A>G (p.Leu1705=)
 dbSNP
2g.237344497T>GCA431710367COL6A3c.166A>C
c.6903A>C (p.Leu2301=)
c.7521A>C (p.Leu2507=)
c.5697A>C (p.Leu1899=)
c.5700A>C (p.Leu1900=)
n.1775A>C
c.6921A>C (p.Leu2307=)
c.6300A>C (p.Leu2100=)
c.7020A>C (p.Leu2340=)
c.7518A>C (p.Leu2506=)
c.5115A>C (p.Leu1705=)
 gnomAD v4
2g.237344498A>CCA351202421COL6A3c.165T>G
c.6902T>G (p.Leu2301Arg)
c.7520T>G (p.Leu2507Arg)
c.5696T>G (p.Leu1899Arg)
c.5699T>G (p.Leu1900Arg)
n.1774T>G
c.6920T>G (p.Leu2307Arg)
c.6299T>G (p.Leu2100Arg)
c.7019T>G (p.Leu2340Arg)
c.7517T>G (p.Leu2506Arg)
c.5114T>G (p.Leu1705Arg)
2g.237344498A>GCA351202413COL6A3c.165T>C
c.6902T>C (p.Leu2301Pro)
c.7520T>C (p.Leu2507Pro)
c.5696T>C (p.Leu1899Pro)
c.5699T>C (p.Leu1900Pro)
n.1774T>C
c.6920T>C (p.Leu2307Pro)
c.6299T>C (p.Leu2100Pro)
c.7019T>C (p.Leu2340Pro)
c.7517T>C (p.Leu2506Pro)
c.5114T>C (p.Leu1705Pro)
2g.237344498A>TCA351202418COL6A3c.165T>A
c.6902T>A (p.Leu2301Gln)
c.7520T>A (p.Leu2507Gln)
c.5696T>A (p.Leu1899Gln)
c.5699T>A (p.Leu1900Gln)
n.1774T>A
c.6920T>A (p.Leu2307Gln)
c.6299T>A (p.Leu2100Gln)
c.7019T>A (p.Leu2340Gln)
c.7517T>A (p.Leu2506Gln)
c.5114T>A (p.Leu1705Gln)
2g.237344499G>ACA431710368COL6A3c.164C>T
c.6901C>T (p.Leu2301=)
c.7519C>T (p.Leu2507=)
c.5695C>T (p.Leu1899=)
c.5698C>T (p.Leu1900=)
n.1773C>T
c.6919C>T (p.Leu2307=)
c.6298C>T (p.Leu2100=)
c.7018C>T (p.Leu2340=)
c.7516C>T (p.Leu2506=)
c.5113C>T (p.Leu1705=)
 gnomAD v4
2g.237344499G>CCA351202428COL6A3c.164C>G
c.6901C>G (p.Leu2301Val)
c.7519C>G (p.Leu2507Val)
c.5695C>G (p.Leu1899Val)
c.5698C>G (p.Leu1900Val)
n.1773C>G
c.6919C>G (p.Leu2307Val)
c.6298C>G (p.Leu2100Val)
c.7018C>G (p.Leu2340Val)
c.7516C>G (p.Leu2506Val)
c.5113C>G (p.Leu1705Val)
2g.237344499G>TCA351202432COL6A3c.164C>A
c.6901C>A (p.Leu2301Ile)
c.7519C>A (p.Leu2507Ile)
c.5695C>A (p.Leu1899Ile)
c.5698C>A (p.Leu1900Ile)
n.1773C>A
c.6919C>A (p.Leu2307Ile)
c.6298C>A (p.Leu2100Ile)
c.7018C>A (p.Leu2340Ile)
c.7516C>A (p.Leu2506Ile)
c.5113C>A (p.Leu1705Ile)
2g.237344500G>ACA2187790COL6A3c.163C>T
c.6900C>T (p.Phe2300=)
c.7518C>T (p.Phe2506=)
c.5694C>T (p.Phe1898=)
c.5697C>T (p.Phe1899=)
n.1772C>T
c.6918C>T (p.Phe2306=)
c.6297C>T (p.Phe2099=)
c.7017C>T (p.Phe2339=)
c.7515C>T (p.Phe2505=)
c.5112C>T (p.Phe1704=)
 dbSNP ExAC gnomAD v2
2g.237344500G>CCA351202438COL6A3c.163C>G
c.6900C>G (p.Phe2300Leu)
c.7518C>G (p.Phe2506Leu)
c.5694C>G (p.Phe1898Leu)
c.5697C>G (p.Phe1899Leu)
n.1772C>G
c.6918C>G (p.Phe2306Leu)
c.6297C>G (p.Phe2099Leu)
c.7017C>G (p.Phe2339Leu)
c.7515C>G (p.Phe2505Leu)
c.5112C>G (p.Phe1704Leu)
2g.237344500G=CA1337610906COL6A3c.163C=
c.6900C= (p.Phe2300=)
c.7518C= (p.Phe2506=)
c.5694C= (p.Phe1898=)
c.5697C= (p.Phe1899=)
n.1772C=
c.6918C= (p.Phe2306=)
c.6297C= (p.Phe2099=)
c.7017C= (p.Phe2339=)
c.7515C= (p.Phe2505=)
c.5112C= (p.Phe1704=)
2g.237344500G>TCA351202443COL6A3c.163C>A
c.6900C>A (p.Phe2300Leu)
c.7518C>A (p.Phe2506Leu)
c.5694C>A (p.Phe1898Leu)
c.5697C>A (p.Phe1899Leu)
n.1772C>A
c.6918C>A (p.Phe2306Leu)
c.6297C>A (p.Phe2099Leu)
c.7017C>A (p.Phe2339Leu)
c.7515C>A (p.Phe2505Leu)
c.5112C>A (p.Phe1704Leu)
2g.237344501A=CA1337610907COL6A3c.162T=
c.6899T= (p.Phe2300=)
c.7517T= (p.Phe2506=)
c.5693T= (p.Phe1898=)
c.5696T= (p.Phe1899=)
n.1771T=
c.6917T= (p.Phe2306=)
c.6296T= (p.Phe2099=)
c.7016T= (p.Phe2339=)
c.7514T= (p.Phe2505=)
c.5111T= (p.Phe1704=)
2g.237344501A>CCA351202446COL6A3c.162T>G
c.6899T>G (p.Phe2300Cys)
c.7517T>G (p.Phe2506Cys)
c.5693T>G (p.Phe1898Cys)
c.5696T>G (p.Phe1899Cys)
n.1771T>G
c.6917T>G (p.Phe2306Cys)
c.6296T>G (p.Phe2099Cys)
c.7016T>G (p.Phe2339Cys)
c.7514T>G (p.Phe2505Cys)
c.5111T>G (p.Phe1704Cys)
2g.237344501A>GCA351202449COL6A3c.162T>C
c.6899T>C (p.Phe2300Ser)
c.7517T>C (p.Phe2506Ser)
c.5693T>C (p.Phe1898Ser)
c.5696T>C (p.Phe1899Ser)
n.1771T>C
c.6917T>C (p.Phe2306Ser)
c.6296T>C (p.Phe2099Ser)
c.7016T>C (p.Phe2339Ser)
c.7514T>C (p.Phe2505Ser)
c.5111T>C (p.Phe1704Ser)
2g.237344501A>TCA2187791COL6A3c.162T>A
c.6899T>A (p.Phe2300Tyr)
c.7517T>A (p.Phe2506Tyr)
c.5693T>A (p.Phe1898Tyr)
c.5696T>A (p.Phe1899Tyr)
n.1771T>A
c.6917T>A (p.Phe2306Tyr)
c.6296T>A (p.Phe2099Tyr)
c.7016T>A (p.Phe2339Tyr)
c.7514T>A (p.Phe2505Tyr)
c.5111T>A (p.Phe1704Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344502A>CCA351202450COL6A3c.161T>G
c.6898T>G (p.Phe2300Val)
c.7516T>G (p.Phe2506Val)
c.5692T>G (p.Phe1898Val)
c.5695T>G (p.Phe1899Val)
n.1770T>G
c.6916T>G (p.Phe2306Val)
c.6295T>G (p.Phe2099Val)
c.7015T>G (p.Phe2339Val)
c.7513T>G (p.Phe2505Val)
c.5110T>G (p.Phe1704Val)
2g.237344502A>GCA351202451COL6A3c.161T>C
c.6898T>C (p.Phe2300Leu)
c.7516T>C (p.Phe2506Leu)
c.5692T>C (p.Phe1898Leu)
c.5695T>C (p.Phe1899Leu)
n.1770T>C
c.6916T>C (p.Phe2306Leu)
c.6295T>C (p.Phe2099Leu)
c.7015T>C (p.Phe2339Leu)
c.7513T>C (p.Phe2505Leu)
c.5110T>C (p.Phe1704Leu)
2g.237344502A>TCA351202454COL6A3c.161T>A
c.6898T>A (p.Phe2300Ile)
c.7516T>A (p.Phe2506Ile)
c.5692T>A (p.Phe1898Ile)
c.5695T>A (p.Phe1899Ile)
n.1770T>A
c.6916T>A (p.Phe2306Ile)
c.6295T>A (p.Phe2099Ile)
c.7015T>A (p.Phe2339Ile)
c.7513T>A (p.Phe2505Ile)
c.5110T>A (p.Phe1704Ile)
2g.237344503T>ACA431710372COL6A3c.160A>T
c.6897A>T (p.Gly2299=)
c.7515A>T (p.Gly2505=)
c.5691A>T (p.Gly1897=)
c.5694A>T (p.Gly1898=)
n.1769A>T
c.6915A>T (p.Gly2305=)
c.6294A>T (p.Gly2098=)
c.7014A>T (p.Gly2338=)
c.7512A>T (p.Gly2504=)
c.5109A>T (p.Gly1703=)
 ClinVar
2g.237344503T>CCA431710375COL6A3c.160A>G
c.6897A>G (p.Gly2299=)
c.7515A>G (p.Gly2505=)
c.5691A>G (p.Gly1897=)
c.5694A>G (p.Gly1898=)
n.1769A>G
c.6915A>G (p.Gly2305=)
c.6294A>G (p.Gly2098=)
c.7014A>G (p.Gly2338=)
c.7512A>G (p.Gly2504=)
c.5109A>G (p.Gly1703=)
2g.237344503T>GCA431710376COL6A3c.160A>C
c.6897A>C (p.Gly2299=)
c.7515A>C (p.Gly2505=)
c.5691A>C (p.Gly1897=)
c.5694A>C (p.Gly1898=)
n.1769A>C
c.6915A>C (p.Gly2305=)
c.6294A>C (p.Gly2098=)
c.7014A>C (p.Gly2338=)
c.7512A>C (p.Gly2504=)
c.5109A>C (p.Gly1703=)
2g.237344504C>ACA244838COL6A3c.159G>T
c.6896G>T (p.Gly2299Val)
c.7514G>T (p.Gly2505Val)
c.5690G>T (p.Gly1897Val)
c.5693G>T (p.Gly1898Val)
n.1768G>T
c.6914G>T (p.Gly2305Val)
c.6293G>T (p.Gly2098Val)
c.7013G>T (p.Gly2338Val)
c.7511G>T (p.Gly2504Val)
c.5108G>T (p.Gly1703Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237344504C=CA1337610908COL6A3c.159G=
c.6896G= (p.Gly2299=)
c.7514G= (p.Gly2505=)
c.5690G= (p.Gly1897=)
c.5693G= (p.Gly1898=)
n.1768G=
c.6914G= (p.Gly2305=)
c.6293G= (p.Gly2098=)
c.7013G= (p.Gly2338=)
c.7511G= (p.Gly2504=)
c.5108G= (p.Gly1703=)
2g.237344504C>GCA351202460COL6A3c.159G>C
c.6896G>C (p.Gly2299Ala)
c.7514G>C (p.Gly2505Ala)
c.5690G>C (p.Gly1897Ala)
c.5693G>C (p.Gly1898Ala)
n.1768G>C
c.6914G>C (p.Gly2305Ala)
c.6293G>C (p.Gly2098Ala)
c.7013G>C (p.Gly2338Ala)
c.7511G>C (p.Gly2504Ala)
c.5108G>C (p.Gly1703Ala)
 gnomAD v4
2g.237344504C>TCA351202462COL6A3c.159G>A
c.6896G>A (p.Gly2299Glu)
c.7514G>A (p.Gly2505Glu)
c.5690G>A (p.Gly1897Glu)
c.5693G>A (p.Gly1898Glu)
n.1768G>A
c.6914G>A (p.Gly2305Glu)
c.6293G>A (p.Gly2098Glu)
c.7013G>A (p.Gly2338Glu)
c.7511G>A (p.Gly2504Glu)
c.5108G>A (p.Gly1703Glu)
2g.237344505C>ACA351202465COL6A3c.158G>T
c.6895G>T (p.Gly2299Ter)
c.7513G>T (p.Gly2505Ter)
c.5689G>T (p.Gly1897Ter)
c.5692G>T (p.Gly1898Ter)
n.1767G>T
c.6913G>T (p.Gly2305Ter)
c.6292G>T (p.Gly2098Ter)
c.7012G>T (p.Gly2338Ter)
c.7510G>T (p.Gly2504Ter)
c.5107G>T (p.Gly1703Ter)
2g.237344505C=CA1337610909COL6A3c.158G=
c.6895G= (p.Gly2299=)
c.7513G= (p.Gly2505=)
c.5689G= (p.Gly1897=)
c.5692G= (p.Gly1898=)
n.1767G=
c.6913G= (p.Gly2305=)
c.6292G= (p.Gly2098=)
c.7012G= (p.Gly2338=)
c.7510G= (p.Gly2504=)
c.5107G= (p.Gly1703=)
2g.237344505C>GCA351202467COL6A3c.158G>C
c.6895G>C (p.Gly2299Arg)
c.7513G>C (p.Gly2505Arg)
c.5689G>C (p.Gly1897Arg)
c.5692G>C (p.Gly1898Arg)
n.1767G>C
c.6913G>C (p.Gly2305Arg)
c.6292G>C (p.Gly2098Arg)
c.7012G>C (p.Gly2338Arg)
c.7510G>C (p.Gly2504Arg)
c.5107G>C (p.Gly1703Arg)
2g.237344505C>TCA2187792COL6A3c.158G>A
c.6895G>A (p.Gly2299Arg)
c.7513G>A (p.Gly2505Arg)
c.5689G>A (p.Gly1897Arg)
c.5692G>A (p.Gly1898Arg)
n.1767G>A
c.6913G>A (p.Gly2305Arg)
c.6292G>A (p.Gly2098Arg)
c.7012G>A (p.Gly2338Arg)
c.7510G>A (p.Gly2504Arg)
c.5107G>A (p.Gly1703Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237344506G>ACA148033COL6A3c.157C>T
c.6894C>T (p.Asn2298=)
c.7512C>T (p.Asn2504=)
c.5688C>T (p.Asn1896=)
c.5691C>T (p.Asn1897=)
n.1766C>T
c.6912C>T (p.Asn2304=)
c.6291C>T (p.Asn2097=)
c.7011C>T (p.Asn2337=)
c.7509C>T (p.Asn2503=)
c.5106C>T (p.Asn1702=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344506G>CCA351202478COL6A3c.157C>G
c.6894C>G (p.Asn2298Lys)
c.7512C>G (p.Asn2504Lys)
c.5688C>G (p.Asn1896Lys)
c.5691C>G (p.Asn1897Lys)
n.1766C>G
c.6912C>G (p.Asn2304Lys)
c.6291C>G (p.Asn2097Lys)
c.7011C>G (p.Asn2337Lys)
c.7509C>G (p.Asn2503Lys)
c.5106C>G (p.Asn1702Lys)
2g.237344506G=CA1337610910COL6A3c.157C=
c.6894C= (p.Asn2298=)
c.7512C= (p.Asn2504=)
c.5688C= (p.Asn1896=)
c.5691C= (p.Asn1897=)
n.1766C=
c.6912C= (p.Asn2304=)
c.6291C= (p.Asn2097=)
c.7011C= (p.Asn2337=)
c.7509C= (p.Asn2503=)
c.5106C= (p.Asn1702=)
2g.237344506G>TCA351202481COL6A3c.157C>A
c.6894C>A (p.Asn2298Lys)
c.7512C>A (p.Asn2504Lys)
c.5688C>A (p.Asn1896Lys)
c.5691C>A (p.Asn1897Lys)
n.1766C>A
c.6912C>A (p.Asn2304Lys)
c.6291C>A (p.Asn2097Lys)
c.7011C>A (p.Asn2337Lys)
c.7509C>A (p.Asn2503Lys)
c.5106C>A (p.Asn1702Lys)
2g.237344507T>ACA351202489COL6A3c.156A>T
c.6893A>T (p.Asn2298Ile)
c.7511A>T (p.Asn2504Ile)
c.5687A>T (p.Asn1896Ile)
c.5690A>T (p.Asn1897Ile)
n.1765A>T
c.6911A>T (p.Asn2304Ile)
c.6290A>T (p.Asn2097Ile)
c.7010A>T (p.Asn2337Ile)
c.7508A>T (p.Asn2503Ile)
c.5105A>T (p.Asn1702Ile)
2g.237344507T>CCA351202487COL6A3c.156A>G
c.6893A>G (p.Asn2298Ser)
c.7511A>G (p.Asn2504Ser)
c.5687A>G (p.Asn1896Ser)
c.5690A>G (p.Asn1897Ser)
n.1765A>G
c.6911A>G (p.Asn2304Ser)
c.6290A>G (p.Asn2097Ser)
c.7010A>G (p.Asn2337Ser)
c.7508A>G (p.Asn2503Ser)
c.5105A>G (p.Asn1702Ser)
2g.237344507T>GCA351202484COL6A3c.156A>C
c.6893A>C (p.Asn2298Thr)
c.7511A>C (p.Asn2504Thr)
c.5687A>C (p.Asn1896Thr)
c.5690A>C (p.Asn1897Thr)
n.1765A>C
c.6911A>C (p.Asn2304Thr)
c.6290A>C (p.Asn2097Thr)
c.7010A>C (p.Asn2337Thr)
c.7508A>C (p.Asn2503Thr)
c.5105A>C (p.Asn1702Thr)
2g.237344508T>ACA351202491COL6A3c.155A>T
c.6892A>T (p.Asn2298Tyr)
c.7510A>T (p.Asn2504Tyr)
c.5686A>T (p.Asn1896Tyr)
c.5689A>T (p.Asn1897Tyr)
n.1764A>T
c.6910A>T (p.Asn2304Tyr)
c.6289A>T (p.Asn2097Tyr)
c.7009A>T (p.Asn2337Tyr)
c.7507A>T (p.Asn2503Tyr)
c.5104A>T (p.Asn1702Tyr)
2g.237344508T>CCA351202496COL6A3c.155A>G
c.6892A>G (p.Asn2298Asp)
c.7510A>G (p.Asn2504Asp)
c.5686A>G (p.Asn1896Asp)
c.5689A>G (p.Asn1897Asp)
n.1764A>G
c.6910A>G (p.Asn2304Asp)
c.6289A>G (p.Asn2097Asp)
c.7009A>G (p.Asn2337Asp)
c.7507A>G (p.Asn2503Asp)
c.5104A>G (p.Asn1702Asp)
2g.237344508T>GCA351202493COL6A3c.155A>C
c.6892A>C (p.Asn2298His)
c.7510A>C (p.Asn2504His)
c.5686A>C (p.Asn1896His)
c.5689A>C (p.Asn1897His)
n.1764A>C
c.6910A>C (p.Asn2304His)
c.6289A>C (p.Asn2097His)
c.7009A>C (p.Asn2337His)
c.7507A>C (p.Asn2503His)
c.5104A>C (p.Asn1702His)
2g.237344509C>ACA351202502COL6A3c.154G>T
c.6891G>T (p.Arg2297Ser)
c.7509G>T (p.Arg2503Ser)
c.5685G>T (p.Arg1895Ser)
c.5688G>T (p.Arg1896Ser)
n.1763G>T
c.6909G>T (p.Arg2303Ser)
c.6288G>T (p.Arg2096Ser)
c.7008G>T (p.Arg2336Ser)
c.7506G>T (p.Arg2502Ser)
c.5103G>T (p.Arg1701Ser)
2g.237344509C=CA1337610911COL6A3c.154G=
c.6891G= (p.Arg2297=)
c.7509G= (p.Arg2503=)
c.5685G= (p.Arg1895=)
c.5688G= (p.Arg1896=)
n.1763G=
c.6909G= (p.Arg2303=)
c.6288G= (p.Arg2096=)
c.7008G= (p.Arg2336=)
c.7506G= (p.Arg2502=)
c.5103G= (p.Arg1701=)
2g.237344509C>GCA351202504COL6A3c.154G>C
c.6891G>C (p.Arg2297Ser)
c.7509G>C (p.Arg2503Ser)
c.5685G>C (p.Arg1895Ser)
c.5688G>C (p.Arg1896Ser)
n.1763G>C
c.6909G>C (p.Arg2303Ser)
c.6288G>C (p.Arg2096Ser)
c.7008G>C (p.Arg2336Ser)
c.7506G>C (p.Arg2502Ser)
c.5103G>C (p.Arg1701Ser)
2g.237344509C>TCA148030COL6A3c.154G>A
c.6891G>A (p.Arg2297=)
c.7509G>A (p.Arg2503=)
c.5685G>A (p.Arg1895=)
c.5688G>A (p.Arg1896=)
n.1763G>A
c.6909G>A (p.Arg2303=)
c.6288G>A (p.Arg2096=)
c.7008G>A (p.Arg2336=)
c.7506G>A (p.Arg2502=)
c.5103G>A (p.Arg1701=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344510C>ACA351202514COL6A3c.153G>T
c.6890G>T (p.Arg2297Met)
c.7508G>T (p.Arg2503Met)
c.5684G>T (p.Arg1895Met)
c.5687G>T (p.Arg1896Met)
n.1762G>T
c.6908G>T (p.Arg2303Met)
c.6287G>T (p.Arg2096Met)
c.7007G>T (p.Arg2336Met)
c.7505G>T (p.Arg2502Met)
c.5102G>T (p.Arg1701Met)
2g.237344510C=CA1337610912COL6A3c.153G=
c.6890G= (p.Arg2297=)
c.7508G= (p.Arg2503=)
c.5684G= (p.Arg1895=)
c.5687G= (p.Arg1896=)
n.1762G=
c.6908G= (p.Arg2303=)
c.6287G= (p.Arg2096=)
c.7007G= (p.Arg2336=)
c.7505G= (p.Arg2502=)
c.5102G= (p.Arg1701=)
2g.237344510C>GCA351202517COL6A3c.153G>C
c.6890G>C (p.Arg2297Thr)
c.7508G>C (p.Arg2503Thr)
c.5684G>C (p.Arg1895Thr)
c.5687G>C (p.Arg1896Thr)
n.1762G>C
c.6908G>C (p.Arg2303Thr)
c.6287G>C (p.Arg2096Thr)
c.7007G>C (p.Arg2336Thr)
c.7505G>C (p.Arg2502Thr)
c.5102G>C (p.Arg1701Thr)
2g.237344510C>TCA351202520COL6A3c.153G>A
c.6890G>A (p.Arg2297Lys)
c.7508G>A (p.Arg2503Lys)
c.5684G>A (p.Arg1895Lys)
c.5687G>A (p.Arg1896Lys)
n.1762G>A
c.6908G>A (p.Arg2303Lys)
c.6287G>A (p.Arg2096Lys)
c.7007G>A (p.Arg2336Lys)
c.7505G>A (p.Arg2502Lys)
c.5102G>A (p.Arg1701Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237344511T>ACA351202524COL6A3c.152A>T
c.6889A>T (p.Arg2297Trp)
c.7507A>T (p.Arg2503Trp)
c.5683A>T (p.Arg1895Trp)
c.5686A>T (p.Arg1896Trp)
n.1761A>T
c.6907A>T (p.Arg2303Trp)
c.6286A>T (p.Arg2096Trp)
c.7006A>T (p.Arg2336Trp)
c.7504A>T (p.Arg2502Trp)
c.5101A>T (p.Arg1701Trp)
2g.237344511T>CCA351202522COL6A3c.152A>G
c.6889A>G (p.Arg2297Gly)
c.7507A>G (p.Arg2503Gly)
c.5683A>G (p.Arg1895Gly)
c.5686A>G (p.Arg1896Gly)
n.1761A>G
c.6907A>G (p.Arg2303Gly)
c.6286A>G (p.Arg2096Gly)
c.7006A>G (p.Arg2336Gly)
c.7504A>G (p.Arg2502Gly)
c.5101A>G (p.Arg1701Gly)
2g.237344511T>GCA431710381COL6A3c.152A>C
c.6889A>C (p.Arg2297=)
c.7507A>C (p.Arg2503=)
c.5683A>C (p.Arg1895=)
c.5686A>C (p.Arg1896=)
n.1761A>C
c.6907A>C (p.Arg2303=)
c.6286A>C (p.Arg2096=)
c.7006A>C (p.Arg2336=)
c.7504A>C (p.Arg2502=)
c.5101A>C (p.Arg1701=)
2g.237344512C>ACA431710382COL6A3c.151G>T
c.6888G>T (p.Val2296=)
c.7506G>T (p.Val2502=)
c.5682G>T (p.Val1894=)
c.5685G>T (p.Val1895=)
n.1760G>T
c.6906G>T (p.Val2302=)
c.6285G>T (p.Val2095=)
c.7005G>T (p.Val2335=)
c.7503G>T (p.Val2501=)
c.5100G>T (p.Val1700=)
2g.237344512C>GCA431710383COL6A3c.151G>C
c.6888G>C (p.Val2296=)
c.7506G>C (p.Val2502=)
c.5682G>C (p.Val1894=)
c.5685G>C (p.Val1895=)
n.1760G>C
c.6906G>C (p.Val2302=)
c.6285G>C (p.Val2095=)
c.7005G>C (p.Val2335=)
c.7503G>C (p.Val2501=)
c.5100G>C (p.Val1700=)
 COSMIC
2g.237344512C>TCA431710384COL6A3c.151G>A
c.6888G>A (p.Val2296=)
c.7506G>A (p.Val2502=)
c.5682G>A (p.Val1894=)
c.5685G>A (p.Val1895=)
n.1760G>A
c.6906G>A (p.Val2302=)
c.6285G>A (p.Val2095=)
c.7005G>A (p.Val2335=)
c.7503G>A (p.Val2501=)
c.5100G>A (p.Val1700=)
 gnomAD v4
2g.237344513A>CCA351202525COL6A3c.150T>G
c.6887T>G (p.Val2296Gly)
c.7505T>G (p.Val2502Gly)
c.5681T>G (p.Val1894Gly)
c.5684T>G (p.Val1895Gly)
n.1759T>G
c.6905T>G (p.Val2302Gly)
c.6284T>G (p.Val2095Gly)
c.7004T>G (p.Val2335Gly)
c.7502T>G (p.Val2501Gly)
c.5099T>G (p.Val1700Gly)
 dbSNP
2g.237344513A>GCA351202527COL6A3c.150T>C
c.6887T>C (p.Val2296Ala)
c.7505T>C (p.Val2502Ala)
c.5681T>C (p.Val1894Ala)
c.5684T>C (p.Val1895Ala)
n.1759T>C
c.6905T>C (p.Val2302Ala)
c.6284T>C (p.Val2095Ala)
c.7004T>C (p.Val2335Ala)
c.7502T>C (p.Val2501Ala)
c.5099T>C (p.Val1700Ala)
2g.237344513A>TCA351202534COL6A3c.150T>A
c.6887T>A (p.Val2296Glu)
c.7505T>A (p.Val2502Glu)
c.5681T>A (p.Val1894Glu)
c.5684T>A (p.Val1895Glu)
n.1759T>A
c.6905T>A (p.Val2302Glu)
c.6284T>A (p.Val2095Glu)
c.7004T>A (p.Val2335Glu)
c.7502T>A (p.Val2501Glu)
c.5099T>A (p.Val1700Glu)
2g.237344514C>ACA351202537COL6A3c.149G>T
c.6886G>T (p.Val2296Leu)
c.7504G>T (p.Val2502Leu)
c.5680G>T (p.Val1894Leu)
c.5683G>T (p.Val1895Leu)
n.1758G>T
c.6904G>T (p.Val2302Leu)
c.6283G>T (p.Val2095Leu)
c.7003G>T (p.Val2335Leu)
c.7501G>T (p.Val2501Leu)
c.5098G>T (p.Val1700Leu)
2g.237344514C=CA1337610913COL6A3c.149G=
c.6886G= (p.Val2296=)
c.7504G= (p.Val2502=)
c.5680G= (p.Val1894=)
c.5683G= (p.Val1895=)
n.1758G=
c.6904G= (p.Val2302=)
c.6283G= (p.Val2095=)
c.7003G= (p.Val2335=)
c.7501G= (p.Val2501=)
c.5098G= (p.Val1700=)
2g.237344514C>GCA351202539COL6A3c.149G>C
c.6886G>C (p.Val2296Leu)
c.7504G>C (p.Val2502Leu)
c.5680G>C (p.Val1894Leu)
c.5683G>C (p.Val1895Leu)
n.1758G>C
c.6904G>C (p.Val2302Leu)
c.6283G>C (p.Val2095Leu)
c.7003G>C (p.Val2335Leu)
c.7501G>C (p.Val2501Leu)
c.5098G>C (p.Val1700Leu)
 gnomAD v4
2g.237344514C>TCA351202542COL6A3c.149G>A
c.6886G>A (p.Val2296Met)
c.7504G>A (p.Val2502Met)
c.5680G>A (p.Val1894Met)
c.5683G>A (p.Val1895Met)
n.1758G>A
c.6904G>A (p.Val2302Met)
c.6283G>A (p.Val2095Met)
c.7003G>A (p.Val2335Met)
c.7501G>A (p.Val2501Met)
c.5098G>A (p.Val1700Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237344515A>CCA431710390COL6A3c.148T>G
c.6885T>G (p.Arg2295=)
c.7503T>G (p.Arg2501=)
c.5679T>G (p.Arg1893=)
c.5682T>G (p.Arg1894=)
n.1757T>G
c.6903T>G (p.Arg2301=)
c.6282T>G (p.Arg2094=)
c.7002T>G (p.Arg2334=)
c.7500T>G (p.Arg2500=)
c.5097T>G (p.Arg1699=)
2g.237344515A>GCA431710391COL6A3c.148T>C
c.6885T>C (p.Arg2295=)
c.7503T>C (p.Arg2501=)
c.5679T>C (p.Arg1893=)
c.5682T>C (p.Arg1894=)
n.1757T>C
c.6903T>C (p.Arg2301=)
c.6282T>C (p.Arg2094=)
c.7002T>C (p.Arg2334=)
c.7500T>C (p.Arg2500=)
c.5097T>C (p.Arg1699=)
2g.237344515A>TCA431710392COL6A3c.148T>A
c.6885T>A (p.Arg2295=)
c.7503T>A (p.Arg2501=)
c.5679T>A (p.Arg1893=)
c.5682T>A (p.Arg1894=)
n.1757T>A
c.6903T>A (p.Arg2301=)
c.6282T>A (p.Arg2094=)
c.7002T>A (p.Arg2334=)
c.7500T>A (p.Arg2500=)
c.5097T>A (p.Arg1699=)
2g.237344516C>ACA351202546COL6A3c.147G>T
c.6884G>T (p.Arg2295Leu)
c.7502G>T (p.Arg2501Leu)
c.5678G>T (p.Arg1893Leu)
c.5681G>T (p.Arg1894Leu)
n.1756G>T
c.6902G>T (p.Arg2301Leu)
c.6281G>T (p.Arg2094Leu)
c.7001G>T (p.Arg2334Leu)
c.7499G>T (p.Arg2500Leu)
c.5096G>T (p.Arg1699Leu)
2g.237344516C=CA1337610914COL6A3c.147G=
c.6884G= (p.Arg2295=)
c.7502G= (p.Arg2501=)
c.5678G= (p.Arg1893=)
c.5681G= (p.Arg1894=)
n.1756G=
c.6902G= (p.Arg2301=)
c.6281G= (p.Arg2094=)
c.7001G= (p.Arg2334=)
c.7499G= (p.Arg2500=)
c.5096G= (p.Arg1699=)
2g.237344516C>GCA351202554COL6A3c.147G>C
c.6884G>C (p.Arg2295Pro)
c.7502G>C (p.Arg2501Pro)
c.5678G>C (p.Arg1893Pro)
c.5681G>C (p.Arg1894Pro)
n.1756G>C
c.6902G>C (p.Arg2301Pro)
c.6281G>C (p.Arg2094Pro)
c.7001G>C (p.Arg2334Pro)
c.7499G>C (p.Arg2500Pro)
c.5096G>C (p.Arg1699Pro)
2g.237344516C>TCA200149COL6A3c.147G>A
c.6884G>A (p.Arg2295His)
c.7502G>A (p.Arg2501His)
c.5678G>A (p.Arg1893His)
c.5681G>A (p.Arg1894His)
n.1756G>A
c.6902G>A (p.Arg2301His)
c.6281G>A (p.Arg2094His)
c.7001G>A (p.Arg2334His)
c.7499G>A (p.Arg2500His)
c.5096G>A (p.Arg1699His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237344517G>ACA351202560COL6A3c.146C>T
c.6883C>T (p.Arg2295Cys)
c.7501C>T (p.Arg2501Cys)
c.5677C>T (p.Arg1893Cys)
c.5680C>T (p.Arg1894Cys)
n.1755C>T
c.6901C>T (p.Arg2301Cys)
c.6280C>T (p.Arg2094Cys)
c.7000C>T (p.Arg2334Cys)
c.7498C>T (p.Arg2500Cys)
c.5095C>T (p.Arg1699Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237344517G>CCA351202561COL6A3c.146C>G
c.6883C>G (p.Arg2295Gly)
c.7501C>G (p.Arg2501Gly)
c.5677C>G (p.Arg1893Gly)
c.5680C>G (p.Arg1894Gly)
n.1755C>G
c.6901C>G (p.Arg2301Gly)
c.6280C>G (p.Arg2094Gly)
c.7000C>G (p.Arg2334Gly)
c.7498C>G (p.Arg2500Gly)
c.5095C>G (p.Arg1699Gly)
2g.237344517G=CA1337610915COL6A3c.146C=
c.6883C= (p.Arg2295=)
c.7501C= (p.Arg2501=)
c.5677C= (p.Arg1893=)
c.5680C= (p.Arg1894=)
n.1755C=
c.6901C= (p.Arg2301=)
c.6280C= (p.Arg2094=)
c.7000C= (p.Arg2334=)
c.7498C= (p.Arg2500=)
c.5095C= (p.Arg1699=)
2g.237344517G>TCA351202567COL6A3c.146C>A
c.6883C>A (p.Arg2295Ser)
c.7501C>A (p.Arg2501Ser)
c.5677C>A (p.Arg1893Ser)
c.5680C>A (p.Arg1894Ser)
n.1755C>A
c.6901C>A (p.Arg2301Ser)
c.6280C>A (p.Arg2094Ser)
c.7000C>A (p.Arg2334Ser)
c.7498C>A (p.Arg2500Ser)
c.5095C>A (p.Arg1699Ser)
 dbSNP gnomAD v4
2g.237344518C>ACA351202569COL6A3c.145G>T
c.6882G>T (p.Lys2294Asn)
c.7500G>T (p.Lys2500Asn)
c.5676G>T (p.Lys1892Asn)
c.5679G>T (p.Lys1893Asn)
n.1754G>T
c.6900G>T (p.Lys2300Asn)
c.6279G>T (p.Lys2093Asn)
c.6999G>T (p.Lys2333Asn)
c.7497G>T (p.Lys2499Asn)
c.5094G>T (p.Lys1698Asn)
2g.237344518C=CA1337610916COL6A3c.145G=
c.6882G= (p.Lys2294=)
c.7500G= (p.Lys2500=)
c.5676G= (p.Lys1892=)
c.5679G= (p.Lys1893=)
n.1754G=
c.6900G= (p.Lys2300=)
c.6279G= (p.Lys2093=)
c.6999G= (p.Lys2333=)
c.7497G= (p.Lys2499=)
c.5094G= (p.Lys1698=)
2g.237344518C>GCA351202572COL6A3c.145G>C
c.6882G>C (p.Lys2294Asn)
c.7500G>C (p.Lys2500Asn)
c.5676G>C (p.Lys1892Asn)
c.5679G>C (p.Lys1893Asn)
n.1754G>C
c.6900G>C (p.Lys2300Asn)
c.6279G>C (p.Lys2093Asn)
c.6999G>C (p.Lys2333Asn)
c.7497G>C (p.Lys2499Asn)
c.5094G>C (p.Lys1698Asn)
2g.237344518C>TCA431710401COL6A3c.145G>A
c.6882G>A (p.Lys2294=)
c.7500G>A (p.Lys2500=)
c.5676G>A (p.Lys1892=)
c.5679G>A (p.Lys1893=)
n.1754G>A
c.6900G>A (p.Lys2300=)
c.6279G>A (p.Lys2093=)
c.6999G>A (p.Lys2333=)
c.7497G>A (p.Lys2499=)
c.5094G>A (p.Lys1698=)
 dbSNP gnomAD v4
2g.237344519T>ACA351202575COL6A3c.144A>T
c.6881A>T (p.Lys2294Met)
c.7499A>T (p.Lys2500Met)
c.5675A>T (p.Lys1892Met)
c.5678A>T (p.Lys1893Met)
n.1753A>T
c.6899A>T (p.Lys2300Met)
c.6278A>T (p.Lys2093Met)
c.6998A>T (p.Lys2333Met)
c.7496A>T (p.Lys2499Met)
c.5093A>T (p.Lys1698Met)
2g.237344519T>CCA351202581COL6A3c.144A>G
c.6881A>G (p.Lys2294Arg)
c.7499A>G (p.Lys2500Arg)
c.5675A>G (p.Lys1892Arg)
c.5678A>G (p.Lys1893Arg)
n.1753A>G
c.6899A>G (p.Lys2300Arg)
c.6278A>G (p.Lys2093Arg)
c.6998A>G (p.Lys2333Arg)
c.7496A>G (p.Lys2499Arg)
c.5093A>G (p.Lys1698Arg)
 dbSNP
2g.237344519T>GCA351202586COL6A3c.144A>C
c.6881A>C (p.Lys2294Thr)
c.7499A>C (p.Lys2500Thr)
c.5675A>C (p.Lys1892Thr)
c.5678A>C (p.Lys1893Thr)
n.1753A>C
c.6899A>C (p.Lys2300Thr)
c.6278A>C (p.Lys2093Thr)
c.6998A>C (p.Lys2333Thr)
c.7496A>C (p.Lys2499Thr)
c.5093A>C (p.Lys1698Thr)
2g.237344519T=CA1337610917COL6A3c.144A=
c.6881A= (p.Lys2294=)
c.7499A= (p.Lys2500=)
c.5675A= (p.Lys1892=)
c.5678A= (p.Lys1893=)
n.1753A=
c.6899A= (p.Lys2300=)
c.6278A= (p.Lys2093=)
c.6998A= (p.Lys2333=)
c.7496A= (p.Lys2499=)
c.5093A= (p.Lys1698=)
2g.237344520T>ACA351202590COL6A3c.143A>T
c.6880A>T (p.Lys2294Ter)
c.7498A>T (p.Lys2500Ter)
c.5674A>T (p.Lys1892Ter)
c.5677A>T (p.Lys1893Ter)
n.1752A>T
c.6898A>T (p.Lys2300Ter)
c.6277A>T (p.Lys2093Ter)
c.6997A>T (p.Lys2333Ter)
c.7495A>T (p.Lys2499Ter)
c.5092A>T (p.Lys1698Ter)
2g.237344520T>CCA351202592COL6A3c.143A>G
c.6880A>G (p.Lys2294Glu)
c.7498A>G (p.Lys2500Glu)
c.5674A>G (p.Lys1892Glu)
c.5677A>G (p.Lys1893Glu)
n.1752A>G
c.6898A>G (p.Lys2300Glu)
c.6277A>G (p.Lys2093Glu)
c.6997A>G (p.Lys2333Glu)
c.7495A>G (p.Lys2499Glu)
c.5092A>G (p.Lys1698Glu)
2g.237344520T>GCA351202594COL6A3c.143A>C
c.6880A>C (p.Lys2294Gln)
c.7498A>C (p.Lys2500Gln)
c.5674A>C (p.Lys1892Gln)
c.5677A>C (p.Lys1893Gln)
n.1752A>C
c.6898A>C (p.Lys2300Gln)
c.6277A>C (p.Lys2093Gln)
c.6997A>C (p.Lys2333Gln)
c.7495A>C (p.Lys2499Gln)
c.5092A>C (p.Lys1698Gln)
2g.237344521A>CCA351202597COL6A3c.142T>G
c.6879T>G (p.Phe2293Leu)
c.7497T>G (p.Phe2499Leu)
c.5673T>G (p.Phe1891Leu)
c.5676T>G (p.Phe1892Leu)
n.1751T>G
c.6897T>G (p.Phe2299Leu)
c.6276T>G (p.Phe2092Leu)
c.6996T>G (p.Phe2332Leu)
c.7494T>G (p.Phe2498Leu)
c.5091T>G (p.Phe1697Leu)
2g.237344521A>GCA431710410COL6A3c.142T>C
c.6879T>C (p.Phe2293=)
c.7497T>C (p.Phe2499=)
c.5673T>C (p.Phe1891=)
c.5676T>C (p.Phe1892=)
n.1751T>C
c.6897T>C (p.Phe2299=)
c.6276T>C (p.Phe2092=)
c.6996T>C (p.Phe2332=)
c.7494T>C (p.Phe2498=)
c.5091T>C (p.Phe1697=)
2g.237344521A>TCA351202600COL6A3c.142T>A
c.6879T>A (p.Phe2293Leu)
c.7497T>A (p.Phe2499Leu)
c.5673T>A (p.Phe1891Leu)
c.5676T>A (p.Phe1892Leu)
n.1751T>A
c.6897T>A (p.Phe2299Leu)
c.6276T>A (p.Phe2092Leu)
c.6996T>A (p.Phe2332Leu)
c.7494T>A (p.Phe2498Leu)
c.5091T>A (p.Phe1697Leu)
2g.237344522A>CCA351202604COL6A3c.141T>G
c.6878T>G (p.Phe2293Cys)
c.7496T>G (p.Phe2499Cys)
c.5672T>G (p.Phe1891Cys)
c.5675T>G (p.Phe1892Cys)
n.1750T>G
c.6896T>G (p.Phe2299Cys)
c.6275T>G (p.Phe2092Cys)
c.6995T>G (p.Phe2332Cys)
c.7493T>G (p.Phe2498Cys)
c.5090T>G (p.Phe1697Cys)
2g.237344522A>GCA351202605COL6A3c.141T>C
c.6878T>C (p.Phe2293Ser)
c.7496T>C (p.Phe2499Ser)
c.5672T>C (p.Phe1891Ser)
c.5675T>C (p.Phe1892Ser)
n.1750T>C
c.6896T>C (p.Phe2299Ser)
c.6275T>C (p.Phe2092Ser)
c.6995T>C (p.Phe2332Ser)
c.7493T>C (p.Phe2498Ser)
c.5090T>C (p.Phe1697Ser)
2g.237344522A>TCA351202611COL6A3c.141T>A
c.6878T>A (p.Phe2293Tyr)
c.7496T>A (p.Phe2499Tyr)
c.5672T>A (p.Phe1891Tyr)
c.5675T>A (p.Phe1892Tyr)
n.1750T>A
c.6896T>A (p.Phe2299Tyr)
c.6275T>A (p.Phe2092Tyr)
c.6995T>A (p.Phe2332Tyr)
c.7493T>A (p.Phe2498Tyr)
c.5090T>A (p.Phe1697Tyr)
 gnomAD v4
2g.237344523A>CCA351202615COL6A3c.140T>G
c.6877T>G (p.Phe2293Val)
c.7495T>G (p.Phe2499Val)
c.5671T>G (p.Phe1891Val)
c.5674T>G (p.Phe1892Val)
n.1749T>G
c.6895T>G (p.Phe2299Val)
c.6274T>G (p.Phe2092Val)
c.6994T>G (p.Phe2332Val)
c.7492T>G (p.Phe2498Val)
c.5089T>G (p.Phe1697Val)
2g.237344523A>GCA351202617COL6A3c.140T>C
c.6877T>C (p.Phe2293Leu)
c.7495T>C (p.Phe2499Leu)
c.5671T>C (p.Phe1891Leu)
c.5674T>C (p.Phe1892Leu)
n.1749T>C
c.6895T>C (p.Phe2299Leu)
c.6274T>C (p.Phe2092Leu)
c.6994T>C (p.Phe2332Leu)
c.7492T>C (p.Phe2498Leu)
c.5089T>C (p.Phe1697Leu)
2g.237344523A>TCA351202618COL6A3c.140T>A
c.6877T>A (p.Phe2293Ile)
c.7495T>A (p.Phe2499Ile)
c.5671T>A (p.Phe1891Ile)
c.5674T>A (p.Phe1892Ile)
n.1749T>A
c.6895T>A (p.Phe2299Ile)
c.6274T>A (p.Phe2092Ile)
c.6994T>A (p.Phe2332Ile)
c.7492T>A (p.Phe2498Ile)
c.5089T>A (p.Phe1697Ile)
2g.237344524T>ACA431710415COL6A3c.139A>T
c.6876A>T (p.Thr2292=)
c.7494A>T (p.Thr2498=)
c.5670A>T (p.Thr1890=)
c.5673A>T (p.Thr1891=)
n.1748A>T
c.6894A>T (p.Thr2298=)
c.6273A>T (p.Thr2091=)
c.6993A>T (p.Thr2331=)
c.7491A>T (p.Thr2497=)
c.5088A>T (p.Thr1696=)
2g.237344524T>CCA431710416COL6A3c.139A>G
c.6876A>G (p.Thr2292=)
c.7494A>G (p.Thr2498=)
c.5670A>G (p.Thr1890=)
c.5673A>G (p.Thr1891=)
n.1748A>G
c.6894A>G (p.Thr2298=)
c.6273A>G (p.Thr2091=)
c.6993A>G (p.Thr2331=)
c.7491A>G (p.Thr2497=)
c.5088A>G (p.Thr1696=)
 gnomAD v4
2g.237344524T>GCA431710417COL6A3c.139A>C
c.6876A>C (p.Thr2292=)
c.7494A>C (p.Thr2498=)
c.5670A>C (p.Thr1890=)
c.5673A>C (p.Thr1891=)
n.1748A>C
c.6894A>C (p.Thr2298=)
c.6273A>C (p.Thr2091=)
c.6993A>C (p.Thr2331=)
c.7491A>C (p.Thr2497=)
c.5088A>C (p.Thr1696=)
2g.237344525G>ACA351202621COL6A3c.138C>T
c.6875C>T (p.Thr2292Ile)
c.7493C>T (p.Thr2498Ile)
c.5669C>T (p.Thr1890Ile)
c.5672C>T (p.Thr1891Ile)
n.1747C>T
c.6893C>T (p.Thr2298Ile)
c.6272C>T (p.Thr2091Ile)
c.6992C>T (p.Thr2331Ile)
c.7490C>T (p.Thr2497Ile)
c.5087C>T (p.Thr1696Ile)
 gnomAD v4
2g.237344525G>CCA351202627COL6A3c.138C>G
c.6875C>G (p.Thr2292Arg)
c.7493C>G (p.Thr2498Arg)
c.5669C>G (p.Thr1890Arg)
c.5672C>G (p.Thr1891Arg)
n.1747C>G
c.6893C>G (p.Thr2298Arg)
c.6272C>G (p.Thr2091Arg)
c.6992C>G (p.Thr2331Arg)
c.7490C>G (p.Thr2497Arg)
c.5087C>G (p.Thr1696Arg)
2g.237344525G>TCA351202631COL6A3c.138C>A
c.6875C>A (p.Thr2292Lys)
c.7493C>A (p.Thr2498Lys)
c.5669C>A (p.Thr1890Lys)
c.5672C>A (p.Thr1891Lys)
n.1747C>A
c.6893C>A (p.Thr2298Lys)
c.6272C>A (p.Thr2091Lys)
c.6992C>A (p.Thr2331Lys)
c.7490C>A (p.Thr2497Lys)
c.5087C>A (p.Thr1696Lys)
2g.237344526T>ACA351202634COL6A3c.137A>T
c.6874A>T (p.Thr2292Ser)
c.7492A>T (p.Thr2498Ser)
c.5668A>T (p.Thr1890Ser)
c.5671A>T (p.Thr1891Ser)
n.1746A>T
c.6892A>T (p.Thr2298Ser)
c.6271A>T (p.Thr2091Ser)
c.6991A>T (p.Thr2331Ser)
c.7489A>T (p.Thr2497Ser)
c.5086A>T (p.Thr1696Ser)
2g.237344526T>CCA351202637COL6A3c.137A>G
c.6874A>G (p.Thr2292Ala)
c.7492A>G (p.Thr2498Ala)
c.5668A>G (p.Thr1890Ala)
c.5671A>G (p.Thr1891Ala)
n.1746A>G
c.6892A>G (p.Thr2298Ala)
c.6271A>G (p.Thr2091Ala)
c.6991A>G (p.Thr2331Ala)
c.7489A>G (p.Thr2497Ala)
c.5086A>G (p.Thr1696Ala)
2g.237344526T>GCA351202639COL6A3c.137A>C
c.6874A>C (p.Thr2292Pro)
c.7492A>C (p.Thr2498Pro)
c.5668A>C (p.Thr1890Pro)
c.5671A>C (p.Thr1891Pro)
n.1746A>C
c.6892A>C (p.Thr2298Pro)
c.6271A>C (p.Thr2091Pro)
c.6991A>C (p.Thr2331Pro)
c.7489A>C (p.Thr2497Pro)
c.5086A>C (p.Thr1696Pro)
2g.237344527G>ACA2187793COL6A3c.136C>T
c.6873C>T (p.Asn2291=)
c.7491C>T (p.Asn2497=)
c.5667C>T (p.Asn1889=)
c.5670C>T (p.Asn1890=)
n.1745C>T
c.6891C>T (p.Asn2297=)
c.6270C>T (p.Asn2090=)
c.6990C>T (p.Asn2330=)
c.7488C>T (p.Asn2496=)
c.5085C>T (p.Asn1695=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344527G>CCA351202647COL6A3c.136C>G
c.6873C>G (p.Asn2291Lys)
c.7491C>G (p.Asn2497Lys)
c.5667C>G (p.Asn1889Lys)
c.5670C>G (p.Asn1890Lys)
n.1745C>G
c.6891C>G (p.Asn2297Lys)
c.6270C>G (p.Asn2090Lys)
c.6990C>G (p.Asn2330Lys)
c.7488C>G (p.Asn2496Lys)
c.5085C>G (p.Asn1695Lys)
2g.237344527G=CA1337610918COL6A3c.136C=
c.6873C= (p.Asn2291=)
c.7491C= (p.Asn2497=)
c.5667C= (p.Asn1889=)
c.5670C= (p.Asn1890=)
n.1745C=
c.6891C= (p.Asn2297=)
c.6270C= (p.Asn2090=)
c.6990C= (p.Asn2330=)
c.7488C= (p.Asn2496=)
c.5085C= (p.Asn1695=)
2g.237344527G>TCA351202644COL6A3c.136C>A
c.6873C>A (p.Asn2291Lys)
c.7491C>A (p.Asn2497Lys)
c.5667C>A (p.Asn1889Lys)
c.5670C>A (p.Asn1890Lys)
n.1745C>A
c.6891C>A (p.Asn2297Lys)
c.6270C>A (p.Asn2090Lys)
c.6990C>A (p.Asn2330Lys)
c.7488C>A (p.Asn2496Lys)
c.5085C>A (p.Asn1695Lys)
2g.237344528T>ACA351202648COL6A3c.135A>T
c.6872A>T (p.Asn2291Ile)
c.7490A>T (p.Asn2497Ile)
c.5666A>T (p.Asn1889Ile)
c.5669A>T (p.Asn1890Ile)
n.1744A>T
c.6890A>T (p.Asn2297Ile)
c.6269A>T (p.Asn2090Ile)
c.6989A>T (p.Asn2330Ile)
c.7487A>T (p.Asn2496Ile)
c.5084A>T (p.Asn1695Ile)
2g.237344528T>CCA351202649COL6A3c.135A>G
c.6872A>G (p.Asn2291Ser)
c.7490A>G (p.Asn2497Ser)
c.5666A>G (p.Asn1889Ser)
c.5669A>G (p.Asn1890Ser)
n.1744A>G
c.6890A>G (p.Asn2297Ser)
c.6269A>G (p.Asn2090Ser)
c.6989A>G (p.Asn2330Ser)
c.7487A>G (p.Asn2496Ser)
c.5084A>G (p.Asn1695Ser)
2g.237344528T>GCA351202651COL6A3c.135A>C
c.6872A>C (p.Asn2291Thr)
c.7490A>C (p.Asn2497Thr)
c.5666A>C (p.Asn1889Thr)
c.5669A>C (p.Asn1890Thr)
n.1744A>C
c.6890A>C (p.Asn2297Thr)
c.6269A>C (p.Asn2090Thr)
c.6989A>C (p.Asn2330Thr)
c.7487A>C (p.Asn2496Thr)
c.5084A>C (p.Asn1695Thr)
2g.237344529T>ACA351202654COL6A3c.134A>T
c.6871A>T (p.Asn2291Tyr)
c.7489A>T (p.Asn2497Tyr)
c.5665A>T (p.Asn1889Tyr)
c.5668A>T (p.Asn1890Tyr)
n.1743A>T
c.6889A>T (p.Asn2297Tyr)
c.6268A>T (p.Asn2090Tyr)
c.6988A>T (p.Asn2330Tyr)
c.7486A>T (p.Asn2496Tyr)
c.5083A>T (p.Asn1695Tyr)
2g.237344529T>CCA351202657COL6A3c.134A>G
c.6871A>G (p.Asn2291Asp)
c.7489A>G (p.Asn2497Asp)
c.5665A>G (p.Asn1889Asp)
c.5668A>G (p.Asn1890Asp)
n.1743A>G
c.6889A>G (p.Asn2297Asp)
c.6268A>G (p.Asn2090Asp)
c.6988A>G (p.Asn2330Asp)
c.7486A>G (p.Asn2496Asp)
c.5083A>G (p.Asn1695Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.237344529T>GCA351202660COL6A3c.134A>C
c.6871A>C (p.Asn2291His)
c.7489A>C (p.Asn2497His)
c.5665A>C (p.Asn1889His)
c.5668A>C (p.Asn1890His)
n.1743A>C
c.6889A>C (p.Asn2297His)
c.6268A>C (p.Asn2090His)
c.6988A>C (p.Asn2330His)
c.7486A>C (p.Asn2496His)
c.5083A>C (p.Asn1695His)
2g.237344529T=CA1337610919COL6A3c.134A=
c.6871A= (p.Asn2291=)
c.7489A= (p.Asn2497=)
c.5665A= (p.Asn1889=)
c.5668A= (p.Asn1890=)
n.1743A=
c.6889A= (p.Asn2297=)
c.6268A= (p.Asn2090=)
c.6988A= (p.Asn2330=)
c.7486A= (p.Asn2496=)
c.5083A= (p.Asn1695=)
2g.237344530C>ACA351202663COL6A3c.133G>T
c.6870G>T (p.Arg2290Ser)
c.7488G>T (p.Arg2496Ser)
c.5664G>T (p.Arg1888Ser)
c.5667G>T (p.Arg1889Ser)
n.1742G>T
c.6888G>T (p.Arg2296Ser)
c.6267G>T (p.Arg2089Ser)
c.6987G>T (p.Arg2329Ser)
c.7485G>T (p.Arg2495Ser)
c.5082G>T (p.Arg1694Ser)
 dbSNP
2g.237344530C=CA1337610920COL6A3c.133G=
c.6870G= (p.Arg2290=)
c.7488G= (p.Arg2496=)
c.5664G= (p.Arg1888=)
c.5667G= (p.Arg1889=)
n.1742G=
c.6888G= (p.Arg2296=)
c.6267G= (p.Arg2089=)
c.6987G= (p.Arg2329=)
c.7485G= (p.Arg2495=)
c.5082G= (p.Arg1694=)
2g.237344530C>GCA351202665COL6A3c.133G>C
c.6870G>C (p.Arg2290Ser)
c.7488G>C (p.Arg2496Ser)
c.5664G>C (p.Arg1888Ser)
c.5667G>C (p.Arg1889Ser)
n.1742G>C
c.6888G>C (p.Arg2296Ser)
c.6267G>C (p.Arg2089Ser)
c.6987G>C (p.Arg2329Ser)
c.7485G>C (p.Arg2495Ser)
c.5082G>C (p.Arg1694Ser)
 gnomAD v4
2g.237344530C>TCA431710425COL6A3c.133G>A
c.6870G>A (p.Arg2290=)
c.7488G>A (p.Arg2496=)
c.5664G>A (p.Arg1888=)
c.5667G>A (p.Arg1889=)
n.1742G>A
c.6888G>A (p.Arg2296=)
c.6267G>A (p.Arg2089=)
c.6987G>A (p.Arg2329=)
c.7485G>A (p.Arg2495=)
c.5082G>A (p.Arg1694=)

Number of alleles fetched