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.237344425G>ACA2187770COL6A3c.238C>T
c.6975C>T (p.Leu2325=)
c.7593C>T (p.Leu2531=)
c.5769C>T (p.Leu1923=)
c.5772C>T (p.Leu1924=)
n.1847C>T
c.6993C>T (p.Leu2331=)
c.6372C>T (p.Leu2124=)
c.7092C>T (p.Leu2364=)
c.7590C>T (p.Leu2530=)
c.5187C>T (p.Leu1729=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344425G>CCA431710296COL6A3c.238C>G
c.6975C>G (p.Leu2325=)
c.7593C>G (p.Leu2531=)
c.5769C>G (p.Leu1923=)
c.5772C>G (p.Leu1924=)
n.1847C>G
c.6993C>G (p.Leu2331=)
c.6372C>G (p.Leu2124=)
c.7092C>G (p.Leu2364=)
c.7590C>G (p.Leu2530=)
c.5187C>G (p.Leu1729=)
2g.237344425G=CA1337610869COL6A3c.238C=
c.6975C= (p.Leu2325=)
c.7593C= (p.Leu2531=)
c.5769C= (p.Leu1923=)
c.5772C= (p.Leu1924=)
n.1847C=
c.6993C= (p.Leu2331=)
c.6372C= (p.Leu2124=)
c.7092C= (p.Leu2364=)
c.7590C= (p.Leu2530=)
c.5187C= (p.Leu1729=)
2g.237344425G>TCA431710295COL6A3c.238C>A
c.6975C>A (p.Leu2325=)
c.7593C>A (p.Leu2531=)
c.5769C>A (p.Leu1923=)
c.5772C>A (p.Leu1924=)
n.1847C>A
c.6993C>A (p.Leu2331=)
c.6372C>A (p.Leu2124=)
c.7092C>A (p.Leu2364=)
c.7590C>A (p.Leu2530=)
c.5187C>A (p.Leu1729=)
2g.237344426A>CCA351201925COL6A3c.237T>G
c.6974T>G (p.Leu2325Arg)
c.7592T>G (p.Leu2531Arg)
c.5768T>G (p.Leu1923Arg)
c.5771T>G (p.Leu1924Arg)
n.1846T>G
c.6992T>G (p.Leu2331Arg)
c.6371T>G (p.Leu2124Arg)
c.7091T>G (p.Leu2364Arg)
c.7589T>G (p.Leu2530Arg)
c.5186T>G (p.Leu1729Arg)
2g.237344426A>GCA351201928COL6A3c.237T>C
c.6974T>C (p.Leu2325Pro)
c.7592T>C (p.Leu2531Pro)
c.5768T>C (p.Leu1923Pro)
c.5771T>C (p.Leu1924Pro)
n.1846T>C
c.6992T>C (p.Leu2331Pro)
c.6371T>C (p.Leu2124Pro)
c.7091T>C (p.Leu2364Pro)
c.7589T>C (p.Leu2530Pro)
c.5186T>C (p.Leu1729Pro)
2g.237344426A>TCA351201930COL6A3c.237T>A
c.6974T>A (p.Leu2325His)
c.7592T>A (p.Leu2531His)
c.5768T>A (p.Leu1923His)
c.5771T>A (p.Leu1924His)
n.1846T>A
c.6992T>A (p.Leu2331His)
c.6371T>A (p.Leu2124His)
c.7091T>A (p.Leu2364His)
c.7589T>A (p.Leu2530His)
c.5186T>A (p.Leu1729His)
2g.237344427G>ACA351201934COL6A3c.236C>T
c.6973C>T (p.Leu2325Phe)
c.7591C>T (p.Leu2531Phe)
c.5767C>T (p.Leu1923Phe)
c.5770C>T (p.Leu1924Phe)
n.1845C>T
c.6991C>T (p.Leu2331Phe)
c.6370C>T (p.Leu2124Phe)
c.7090C>T (p.Leu2364Phe)
c.7588C>T (p.Leu2530Phe)
c.5185C>T (p.Leu1729Phe)
2g.237344427G>CCA67839061COL6A3c.236C>G
c.6973C>G (p.Leu2325Val)
c.7591C>G (p.Leu2531Val)
c.5767C>G (p.Leu1923Val)
c.5770C>G (p.Leu1924Val)
n.1845C>G
c.6991C>G (p.Leu2331Val)
c.6370C>G (p.Leu2124Val)
c.7090C>G (p.Leu2364Val)
c.7588C>G (p.Leu2530Val)
c.5185C>G (p.Leu1729Val)
 dbSNP
2g.237344427G=CA1337610870COL6A3c.236C=
c.6973C= (p.Leu2325=)
c.7591C= (p.Leu2531=)
c.5767C= (p.Leu1923=)
c.5770C= (p.Leu1924=)
n.1845C=
c.6991C= (p.Leu2331=)
c.6370C= (p.Leu2124=)
c.7090C= (p.Leu2364=)
c.7588C= (p.Leu2530=)
c.5185C= (p.Leu1729=)
2g.237344427G>TCA351201933COL6A3c.236C>A
c.6973C>A (p.Leu2325Ile)
c.7591C>A (p.Leu2531Ile)
c.5767C>A (p.Leu1923Ile)
c.5770C>A (p.Leu1924Ile)
n.1845C>A
c.6991C>A (p.Leu2331Ile)
c.6370C>A (p.Leu2124Ile)
c.7090C>A (p.Leu2364Ile)
c.7588C>A (p.Leu2530Ile)
c.5185C>A (p.Leu1729Ile)
2g.237344428C>ACA431710297COL6A3c.235G>T
c.6972G>T (p.Val2324=)
c.7590G>T (p.Val2530=)
c.5766G>T (p.Val1922=)
c.5769G>T (p.Val1923=)
n.1844G>T
c.6990G>T (p.Val2330=)
c.6369G>T (p.Val2123=)
c.7089G>T (p.Val2363=)
c.7587G>T (p.Val2529=)
c.5184G>T (p.Val1728=)
2g.237344428C=CA1337610871COL6A3c.235G=
c.6972G= (p.Val2324=)
c.7590G= (p.Val2530=)
c.5766G= (p.Val1922=)
c.5769G= (p.Val1923=)
n.1844G=
c.6990G= (p.Val2330=)
c.6369G= (p.Val2123=)
c.7089G= (p.Val2363=)
c.7587G= (p.Val2529=)
c.5184G= (p.Val1728=)
2g.237344428C>GCA431710298COL6A3c.235G>C
c.6972G>C (p.Val2324=)
c.7590G>C (p.Val2530=)
c.5766G>C (p.Val1922=)
c.5769G>C (p.Val1923=)
n.1844G>C
c.6990G>C (p.Val2330=)
c.6369G>C (p.Val2123=)
c.7089G>C (p.Val2363=)
c.7587G>C (p.Val2529=)
c.5184G>C (p.Val1728=)
2g.237344428C>TCA2187771COL6A3c.235G>A
c.6972G>A (p.Val2324=)
c.7590G>A (p.Val2530=)
c.5766G>A (p.Val1922=)
c.5769G>A (p.Val1923=)
n.1844G>A
c.6990G>A (p.Val2330=)
c.6369G>A (p.Val2123=)
c.7089G>A (p.Val2363=)
c.7587G>A (p.Val2529=)
c.5184G>A (p.Val1728=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237344429A=CA1337610872COL6A3c.234T=
c.6971T= (p.Val2324=)
c.7589T= (p.Val2530=)
c.5765T= (p.Val1922=)
c.5768T= (p.Val1923=)
n.1843T=
c.6989T= (p.Val2330=)
c.6368T= (p.Val2123=)
c.7088T= (p.Val2363=)
c.7586T= (p.Val2529=)
c.5183T= (p.Val1728=)
2g.237344429A>CCA351201946COL6A3c.234T>G
c.6971T>G (p.Val2324Gly)
c.7589T>G (p.Val2530Gly)
c.5765T>G (p.Val1922Gly)
c.5768T>G (p.Val1923Gly)
n.1843T>G
c.6989T>G (p.Val2330Gly)
c.6368T>G (p.Val2123Gly)
c.7088T>G (p.Val2363Gly)
c.7586T>G (p.Val2529Gly)
c.5183T>G (p.Val1728Gly)
 dbSNP
2g.237344429A>GCA2187772COL6A3c.234T>C
c.6971T>C (p.Val2324Ala)
c.7589T>C (p.Val2530Ala)
c.5765T>C (p.Val1922Ala)
c.5768T>C (p.Val1923Ala)
n.1843T>C
c.6989T>C (p.Val2330Ala)
c.6368T>C (p.Val2123Ala)
c.7088T>C (p.Val2363Ala)
c.7586T>C (p.Val2529Ala)
c.5183T>C (p.Val1728Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344429A>TCA351201948COL6A3c.234T>A
c.6971T>A (p.Val2324Glu)
c.7589T>A (p.Val2530Glu)
c.5765T>A (p.Val1922Glu)
c.5768T>A (p.Val1923Glu)
n.1843T>A
c.6989T>A (p.Val2330Glu)
c.6368T>A (p.Val2123Glu)
c.7088T>A (p.Val2363Glu)
c.7586T>A (p.Val2529Glu)
c.5183T>A (p.Val1728Glu)
2g.237344430C>ACA351201953COL6A3c.233G>T
c.6970G>T (p.Val2324Leu)
c.7588G>T (p.Val2530Leu)
c.5764G>T (p.Val1922Leu)
c.5767G>T (p.Val1923Leu)
n.1842G>T
c.6988G>T (p.Val2330Leu)
c.6367G>T (p.Val2123Leu)
c.7087G>T (p.Val2363Leu)
c.7585G>T (p.Val2529Leu)
c.5182G>T (p.Val1728Leu)
2g.237344430C>GCA351201960COL6A3c.233G>C
c.6970G>C (p.Val2324Leu)
c.7588G>C (p.Val2530Leu)
c.5764G>C (p.Val1922Leu)
c.5767G>C (p.Val1923Leu)
n.1842G>C
c.6988G>C (p.Val2330Leu)
c.6367G>C (p.Val2123Leu)
c.7087G>C (p.Val2363Leu)
c.7585G>C (p.Val2529Leu)
c.5182G>C (p.Val1728Leu)
 gnomAD v4
2g.237344430C>TCA351201955COL6A3c.233G>A
c.6970G>A (p.Val2324Met)
c.7588G>A (p.Val2530Met)
c.5764G>A (p.Val1922Met)
c.5767G>A (p.Val1923Met)
n.1842G>A
c.6988G>A (p.Val2330Met)
c.6367G>A (p.Val2123Met)
c.7087G>A (p.Val2363Met)
c.7585G>A (p.Val2529Met)
c.5182G>A (p.Val1728Met)
2g.237344431A=CA1337610873COL6A3c.232T=
c.6969T= (p.Ala2323=)
c.7587T= (p.Ala2529=)
c.5763T= (p.Ala1921=)
c.5766T= (p.Ala1922=)
n.1841T=
c.6987T= (p.Ala2329=)
c.6366T= (p.Ala2122=)
c.7086T= (p.Ala2362=)
c.7584T= (p.Ala2528=)
c.5181T= (p.Ala1727=)
2g.237344431A>CCA431710299COL6A3c.232T>G
c.6969T>G (p.Ala2323=)
c.7587T>G (p.Ala2529=)
c.5763T>G (p.Ala1921=)
c.5766T>G (p.Ala1922=)
n.1841T>G
c.6987T>G (p.Ala2329=)
c.6366T>G (p.Ala2122=)
c.7086T>G (p.Ala2362=)
c.7584T>G (p.Ala2528=)
c.5181T>G (p.Ala1727=)
2g.237344431A>GCA431710300COL6A3c.232T>C
c.6969T>C (p.Ala2323=)
c.7587T>C (p.Ala2529=)
c.5763T>C (p.Ala1921=)
c.5766T>C (p.Ala1922=)
n.1841T>C
c.6987T>C (p.Ala2329=)
c.6366T>C (p.Ala2122=)
c.7086T>C (p.Ala2362=)
c.7584T>C (p.Ala2528=)
c.5181T>C (p.Ala1727=)
 ClinVar dbSNP
2g.237344431A>TCA431710301COL6A3c.232T>A
c.6969T>A (p.Ala2323=)
c.7587T>A (p.Ala2529=)
c.5763T>A (p.Ala1921=)
c.5766T>A (p.Ala1922=)
n.1841T>A
c.6987T>A (p.Ala2329=)
c.6366T>A (p.Ala2122=)
c.7086T>A (p.Ala2362=)
c.7584T>A (p.Ala2528=)
c.5181T>A (p.Ala1727=)
2g.237344432G>ACA2187773COL6A3c.231C>T
c.6968C>T (p.Ala2323Val)
c.7586C>T (p.Ala2529Val)
c.5762C>T (p.Ala1921Val)
c.5765C>T (p.Ala1922Val)
n.1840C>T
c.6986C>T (p.Ala2329Val)
c.6365C>T (p.Ala2122Val)
c.7085C>T (p.Ala2362Val)
c.7583C>T (p.Ala2528Val)
c.5180C>T (p.Ala1727Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344432G>CCA351201967COL6A3c.231C>G
c.6968C>G (p.Ala2323Gly)
c.7586C>G (p.Ala2529Gly)
c.5762C>G (p.Ala1921Gly)
c.5765C>G (p.Ala1922Gly)
n.1840C>G
c.6986C>G (p.Ala2329Gly)
c.6365C>G (p.Ala2122Gly)
c.7085C>G (p.Ala2362Gly)
c.7583C>G (p.Ala2528Gly)
c.5180C>G (p.Ala1727Gly)
2g.237344432G=CA1337610874COL6A3c.231C=
c.6968C= (p.Ala2323=)
c.7586C= (p.Ala2529=)
c.5762C= (p.Ala1921=)
c.5765C= (p.Ala1922=)
n.1840C=
c.6986C= (p.Ala2329=)
c.6365C= (p.Ala2122=)
c.7085C= (p.Ala2362=)
c.7583C= (p.Ala2528=)
c.5180C= (p.Ala1727=)
2g.237344432G>TCA351201969COL6A3c.231C>A
c.6968C>A (p.Ala2323Asp)
c.7586C>A (p.Ala2529Asp)
c.5762C>A (p.Ala1921Asp)
c.5765C>A (p.Ala1922Asp)
n.1840C>A
c.6986C>A (p.Ala2329Asp)
c.6365C>A (p.Ala2122Asp)
c.7085C>A (p.Ala2362Asp)
c.7583C>A (p.Ala2528Asp)
c.5180C>A (p.Ala1727Asp)
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=)

Number of alleles fetched