Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237344373_237344384delCA2663794512COL6A3c.284_295del
c.7021_7032del (p.Glu2341_Gln2344del)
c.7639_7650del (p.Glu2547_Gln2550del)
c.5815_5826del (p.Glu1939_Gln1942del)
c.5818_5829del (p.Glu1940_Gln1943del)
n.1893_1904del
c.7039_7050del (p.Glu2347_Gln2350del)
c.6418_6429del (p.Glu2140_Gln2143del)
c.7138_7149del (p.Glu2380_Gln2383del)
c.7636_7647del (p.Glu2546_Gln2549del)
c.5233_5244del (p.Glu1745_Gln1748del)
 gnomAD v4
2g.237344376C>ACA351201608COL6A3c.287G>T
c.7024G>T (p.Asp2342Tyr)
c.7642G>T (p.Asp2548Tyr)
c.5818G>T (p.Asp1940Tyr)
c.5821G>T (p.Asp1941Tyr)
n.1896G>T
c.7042G>T (p.Asp2348Tyr)
c.6421G>T (p.Asp2141Tyr)
c.7141G>T (p.Asp2381Tyr)
c.7639G>T (p.Asp2547Tyr)
c.5236G>T (p.Asp1746Tyr)
2g.237344376C=CA1337610848COL6A3c.287G=
c.7024G= (p.Asp2342=)
c.7642G= (p.Asp2548=)
c.5818G= (p.Asp1940=)
c.5821G= (p.Asp1941=)
n.1896G=
c.7042G= (p.Asp2348=)
c.6421G= (p.Asp2141=)
c.7141G= (p.Asp2381=)
c.7639G= (p.Asp2547=)
c.5236G= (p.Asp1746=)
2g.237344376C>GCA351201611COL6A3c.287G>C
c.7024G>C (p.Asp2342His)
c.7642G>C (p.Asp2548His)
c.5818G>C (p.Asp1940His)
c.5821G>C (p.Asp1941His)
n.1896G>C
c.7042G>C (p.Asp2348His)
c.6421G>C (p.Asp2141His)
c.7141G>C (p.Asp2381His)
c.7639G>C (p.Asp2547His)
c.5236G>C (p.Asp1746His)
2g.237344376C>TCA2187759COL6A3c.287G>A
c.7024G>A (p.Asp2342Asn)
c.7642G>A (p.Asp2548Asn)
c.5818G>A (p.Asp1940Asn)
c.5821G>A (p.Asp1941Asn)
n.1896G>A
c.7042G>A (p.Asp2348Asn)
c.6421G>A (p.Asp2141Asn)
c.7141G>A (p.Asp2381Asn)
c.7639G>A (p.Asp2547Asn)
c.5236G>A (p.Asp1746Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344377T>ACA351201626COL6A3c.286A>T
c.7023A>T (p.Glu2341Asp)
c.7641A>T (p.Glu2547Asp)
c.5817A>T (p.Glu1939Asp)
c.5820A>T (p.Glu1940Asp)
n.1895A>T
c.7041A>T (p.Glu2347Asp)
c.6420A>T (p.Glu2140Asp)
c.7140A>T (p.Glu2380Asp)
c.7638A>T (p.Glu2546Asp)
c.5235A>T (p.Glu1745Asp)
2g.237344377T>CCA431710109COL6A3c.286A>G
c.7023A>G (p.Glu2341=)
c.7641A>G (p.Glu2547=)
c.5817A>G (p.Glu1939=)
c.5820A>G (p.Glu1940=)
n.1895A>G
c.7041A>G (p.Glu2347=)
c.6420A>G (p.Glu2140=)
c.7140A>G (p.Glu2380=)
c.7638A>G (p.Glu2546=)
c.5235A>G (p.Glu1745=)
2g.237344377T>GCA351201629COL6A3c.286A>C
c.7023A>C (p.Glu2341Asp)
c.7641A>C (p.Glu2547Asp)
c.5817A>C (p.Glu1939Asp)
c.5820A>C (p.Glu1940Asp)
n.1895A>C
c.7041A>C (p.Glu2347Asp)
c.6420A>C (p.Glu2140Asp)
c.7140A>C (p.Glu2380Asp)
c.7638A>C (p.Glu2546Asp)
c.5235A>C (p.Glu1745Asp)
2g.237344377_237344388delCA2663794514COL6A3c.275_286del
c.7012_7023del (p.Thr2338_Glu2341del)
c.7630_7641del (p.Thr2544_Glu2547del)
c.5806_5817del (p.Thr1936_Glu1939del)
c.5809_5820del (p.Thr1937_Glu1940del)
n.1884_1895del
c.7030_7041del (p.Thr2344_Glu2347del)
c.6409_6420del (p.Thr2137_Glu2140del)
c.7129_7140del (p.Thr2377_Glu2380del)
c.7627_7638del (p.Thr2543_Glu2546del)
c.5224_5235del (p.Thr1742_Glu1745del)
 gnomAD v4
2g.237344378T>ACA351201630COL6A3c.285A>T
c.7022A>T (p.Glu2341Val)
c.7640A>T (p.Glu2547Val)
c.5816A>T (p.Glu1939Val)
c.5819A>T (p.Glu1940Val)
n.1894A>T
c.7040A>T (p.Glu2347Val)
c.6419A>T (p.Glu2140Val)
c.7139A>T (p.Glu2380Val)
c.7637A>T (p.Glu2546Val)
c.5234A>T (p.Glu1745Val)
2g.237344378T>CCA351201636COL6A3c.285A>G
c.7022A>G (p.Glu2341Gly)
c.7640A>G (p.Glu2547Gly)
c.5816A>G (p.Glu1939Gly)
c.5819A>G (p.Glu1940Gly)
n.1894A>G
c.7040A>G (p.Glu2347Gly)
c.6419A>G (p.Glu2140Gly)
c.7139A>G (p.Glu2380Gly)
c.7637A>G (p.Glu2546Gly)
c.5234A>G (p.Glu1745Gly)
2g.237344378T>GCA351201639COL6A3c.285A>C
c.7022A>C (p.Glu2341Ala)
c.7640A>C (p.Glu2547Ala)
c.5816A>C (p.Glu1939Ala)
c.5819A>C (p.Glu1940Ala)
n.1894A>C
c.7040A>C (p.Glu2347Ala)
c.6419A>C (p.Glu2140Ala)
c.7139A>C (p.Glu2380Ala)
c.7637A>C (p.Glu2546Ala)
c.5234A>C (p.Glu1745Ala)
2g.237344379C>ACA351201642COL6A3c.284G>T
c.7021G>T (p.Glu2341Ter)
c.7639G>T (p.Glu2547Ter)
c.5815G>T (p.Glu1939Ter)
c.5818G>T (p.Glu1940Ter)
n.1893G>T
c.7039G>T (p.Glu2347Ter)
c.6418G>T (p.Glu2140Ter)
c.7138G>T (p.Glu2380Ter)
c.7636G>T (p.Glu2546Ter)
c.5233G>T (p.Glu1745Ter)
2g.237344379C>GCA351201643COL6A3c.284G>C
c.7021G>C (p.Glu2341Gln)
c.7639G>C (p.Glu2547Gln)
c.5815G>C (p.Glu1939Gln)
c.5818G>C (p.Glu1940Gln)
n.1893G>C
c.7039G>C (p.Glu2347Gln)
c.6418G>C (p.Glu2140Gln)
c.7138G>C (p.Glu2380Gln)
c.7636G>C (p.Glu2546Gln)
c.5233G>C (p.Glu1745Gln)
2g.237344379C>TCA351201646COL6A3c.284G>A
c.7021G>A (p.Glu2341Lys)
c.7639G>A (p.Glu2547Lys)
c.5815G>A (p.Glu1939Lys)
c.5818G>A (p.Glu1940Lys)
n.1893G>A
c.7039G>A (p.Glu2347Lys)
c.6418G>A (p.Glu2140Lys)
c.7138G>A (p.Glu2380Lys)
c.7636G>A (p.Glu2546Lys)
c.5233G>A (p.Glu1745Lys)
2g.237344380C>ACA351201648COL6A3c.283G>T
c.7020G>T (p.Gln2340His)
c.7638G>T (p.Gln2546His)
c.5814G>T (p.Gln1938His)
c.5817G>T (p.Gln1939His)
n.1892G>T
c.7038G>T (p.Gln2346His)
c.6417G>T (p.Gln2139His)
c.7137G>T (p.Gln2379His)
c.7635G>T (p.Gln2545His)
c.5232G>T (p.Gln1744His)
2g.237344380C=CA1337610849COL6A3c.283G=
c.7020G= (p.Gln2340=)
c.7638G= (p.Gln2546=)
c.5814G= (p.Gln1938=)
c.5817G= (p.Gln1939=)
n.1892G=
c.7038G= (p.Gln2346=)
c.6417G= (p.Gln2139=)
c.7137G= (p.Gln2379=)
c.7635G= (p.Gln2545=)
c.5232G= (p.Gln1744=)
2g.237344380C>GCA351201650COL6A3c.283G>C
c.7020G>C (p.Gln2340His)
c.7638G>C (p.Gln2546His)
c.5814G>C (p.Gln1938His)
c.5817G>C (p.Gln1939His)
n.1892G>C
c.7038G>C (p.Gln2346His)
c.6417G>C (p.Gln2139His)
c.7137G>C (p.Gln2379His)
c.7635G>C (p.Gln2545His)
c.5232G>C (p.Gln1744His)
 gnomAD v4
2g.237344380C>TCA431710110COL6A3c.283G>A
c.7020G>A (p.Gln2340=)
c.7638G>A (p.Gln2546=)
c.5814G>A (p.Gln1938=)
c.5817G>A (p.Gln1939=)
n.1892G>A
c.7038G>A (p.Gln2346=)
c.6417G>A (p.Gln2139=)
c.7137G>A (p.Gln2379=)
c.7635G>A (p.Gln2545=)
c.5232G>A (p.Gln1744=)
 dbSNP
2g.237344381T>ACA351201657COL6A3c.282A>T
c.7019A>T (p.Gln2340Leu)
c.7637A>T (p.Gln2546Leu)
c.5813A>T (p.Gln1938Leu)
c.5816A>T (p.Gln1939Leu)
n.1891A>T
c.7037A>T (p.Gln2346Leu)
c.6416A>T (p.Gln2139Leu)
c.7136A>T (p.Gln2379Leu)
c.7634A>T (p.Gln2545Leu)
c.5231A>T (p.Gln1744Leu)
2g.237344381T>CCA351201655COL6A3c.282A>G
c.7019A>G (p.Gln2340Arg)
c.7637A>G (p.Gln2546Arg)
c.5813A>G (p.Gln1938Arg)
c.5816A>G (p.Gln1939Arg)
n.1891A>G
c.7037A>G (p.Gln2346Arg)
c.6416A>G (p.Gln2139Arg)
c.7136A>G (p.Gln2379Arg)
c.7634A>G (p.Gln2545Arg)
c.5231A>G (p.Gln1744Arg)
2g.237344381T>GCA351201653COL6A3c.282A>C
c.7019A>C (p.Gln2340Pro)
c.7637A>C (p.Gln2546Pro)
c.5813A>C (p.Gln1938Pro)
c.5816A>C (p.Gln1939Pro)
n.1891A>C
c.7037A>C (p.Gln2346Pro)
c.6416A>C (p.Gln2139Pro)
c.7136A>C (p.Gln2379Pro)
c.7634A>C (p.Gln2545Pro)
c.5231A>C (p.Gln1744Pro)
 gnomAD v4
2g.237344382G>ACA351201661COL6A3c.281C>T
c.7018C>T (p.Gln2340Ter)
c.7636C>T (p.Gln2546Ter)
c.5812C>T (p.Gln1938Ter)
c.5815C>T (p.Gln1939Ter)
n.1890C>T
c.7036C>T (p.Gln2346Ter)
c.6415C>T (p.Gln2139Ter)
c.7135C>T (p.Gln2379Ter)
c.7633C>T (p.Gln2545Ter)
c.5230C>T (p.Gln1744Ter)
2g.237344382G>CCA351201662COL6A3c.281C>G
c.7018C>G (p.Gln2340Glu)
c.7636C>G (p.Gln2546Glu)
c.5812C>G (p.Gln1938Glu)
c.5815C>G (p.Gln1939Glu)
n.1890C>G
c.7036C>G (p.Gln2346Glu)
c.6415C>G (p.Gln2139Glu)
c.7135C>G (p.Gln2379Glu)
c.7633C>G (p.Gln2545Glu)
c.5230C>G (p.Gln1744Glu)
2g.237344382G>TCA351201665COL6A3c.281C>A
c.7018C>A (p.Gln2340Lys)
c.7636C>A (p.Gln2546Lys)
c.5812C>A (p.Gln1938Lys)
c.5815C>A (p.Gln1939Lys)
n.1890C>A
c.7036C>A (p.Gln2346Lys)
c.6415C>A (p.Gln2139Lys)
c.7135C>A (p.Gln2379Lys)
c.7633C>A (p.Gln2545Lys)
c.5230C>A (p.Gln1744Lys)
2g.237344383C>ACA351201668COL6A3c.280G>T
c.7017G>T (p.Arg2339Ser)
c.7635G>T (p.Arg2545Ser)
c.5811G>T (p.Arg1937Ser)
c.5814G>T (p.Arg1938Ser)
n.1889G>T
c.7035G>T (p.Arg2345Ser)
c.6414G>T (p.Arg2138Ser)
c.7134G>T (p.Arg2378Ser)
c.7632G>T (p.Arg2544Ser)
c.5229G>T (p.Arg1743Ser)
 COSMIC
2g.237344383C>GCA351201669COL6A3c.280G>C
c.7017G>C (p.Arg2339Ser)
c.7635G>C (p.Arg2545Ser)
c.5811G>C (p.Arg1937Ser)
c.5814G>C (p.Arg1938Ser)
n.1889G>C
c.7035G>C (p.Arg2345Ser)
c.6414G>C (p.Arg2138Ser)
c.7134G>C (p.Arg2378Ser)
c.7632G>C (p.Arg2544Ser)
c.5229G>C (p.Arg1743Ser)
2g.237344383C>TCA431710111COL6A3c.280G>A
c.7017G>A (p.Arg2339=)
c.7635G>A (p.Arg2545=)
c.5811G>A (p.Arg1937=)
c.5814G>A (p.Arg1938=)
n.1889G>A
c.7035G>A (p.Arg2345=)
c.6414G>A (p.Arg2138=)
c.7134G>A (p.Arg2378=)
c.7632G>A (p.Arg2544=)
c.5229G>A (p.Arg1743=)
 gnomAD v4
2g.237344384C>ACA351201672COL6A3c.279G>T
c.7016G>T (p.Arg2339Met)
c.7634G>T (p.Arg2545Met)
c.5810G>T (p.Arg1937Met)
c.5813G>T (p.Arg1938Met)
n.1888G>T
c.7034G>T (p.Arg2345Met)
c.6413G>T (p.Arg2138Met)
c.7133G>T (p.Arg2378Met)
c.7631G>T (p.Arg2544Met)
c.5228G>T (p.Arg1743Met)
2g.237344384C>GCA351201674COL6A3c.279G>C
c.7016G>C (p.Arg2339Thr)
c.7634G>C (p.Arg2545Thr)
c.5810G>C (p.Arg1937Thr)
c.5813G>C (p.Arg1938Thr)
n.1888G>C
c.7034G>C (p.Arg2345Thr)
c.6413G>C (p.Arg2138Thr)
c.7133G>C (p.Arg2378Thr)
c.7631G>C (p.Arg2544Thr)
c.5228G>C (p.Arg1743Thr)
2g.237344384C>TCA351201676COL6A3c.279G>A
c.7016G>A (p.Arg2339Lys)
c.7634G>A (p.Arg2545Lys)
c.5810G>A (p.Arg1937Lys)
c.5813G>A (p.Arg1938Lys)
n.1888G>A
c.7034G>A (p.Arg2345Lys)
c.6413G>A (p.Arg2138Lys)
c.7133G>A (p.Arg2378Lys)
c.7631G>A (p.Arg2544Lys)
c.5228G>A (p.Arg1743Lys)
2g.237344385T>ACA351201678COL6A3c.278A>T
c.7015A>T (p.Arg2339Trp)
c.7633A>T (p.Arg2545Trp)
c.5809A>T (p.Arg1937Trp)
c.5812A>T (p.Arg1938Trp)
n.1887A>T
c.7033A>T (p.Arg2345Trp)
c.6412A>T (p.Arg2138Trp)
c.7132A>T (p.Arg2378Trp)
c.7630A>T (p.Arg2544Trp)
c.5227A>T (p.Arg1743Trp)
2g.237344385T>CCA351201681COL6A3c.278A>G
c.7015A>G (p.Arg2339Gly)
c.7633A>G (p.Arg2545Gly)
c.5809A>G (p.Arg1937Gly)
c.5812A>G (p.Arg1938Gly)
n.1887A>G
c.7033A>G (p.Arg2345Gly)
c.6412A>G (p.Arg2138Gly)
c.7132A>G (p.Arg2378Gly)
c.7630A>G (p.Arg2544Gly)
c.5227A>G (p.Arg1743Gly)
 gnomAD v4
2g.237344385T>GCA431710112COL6A3c.278A>C
c.7015A>C (p.Arg2339=)
c.7633A>C (p.Arg2545=)
c.5809A>C (p.Arg1937=)
c.5812A>C (p.Arg1938=)
n.1887A>C
c.7033A>C (p.Arg2345=)
c.6412A>C (p.Arg2138=)
c.7132A>C (p.Arg2378=)
c.7630A>C (p.Arg2544=)
c.5227A>C (p.Arg1743=)
2g.237344386T>ACA431710113COL6A3c.277A>T
c.7014A>T (p.Thr2338=)
c.7632A>T (p.Thr2544=)
c.5808A>T (p.Thr1936=)
c.5811A>T (p.Thr1937=)
n.1886A>T
c.7032A>T (p.Thr2344=)
c.6411A>T (p.Thr2137=)
c.7131A>T (p.Thr2377=)
c.7629A>T (p.Thr2543=)
c.5226A>T (p.Thr1742=)
2g.237344386T>CCA431710114COL6A3c.277A>G
c.7014A>G (p.Thr2338=)
c.7632A>G (p.Thr2544=)
c.5808A>G (p.Thr1936=)
c.5811A>G (p.Thr1937=)
n.1886A>G
c.7032A>G (p.Thr2344=)
c.6411A>G (p.Thr2137=)
c.7131A>G (p.Thr2377=)
c.7629A>G (p.Thr2543=)
c.5226A>G (p.Thr1742=)
2g.237344386T>GCA431710115COL6A3c.277A>C
c.7014A>C (p.Thr2338=)
c.7632A>C (p.Thr2544=)
c.5808A>C (p.Thr1936=)
c.5811A>C (p.Thr1937=)
n.1886A>C
c.7032A>C (p.Thr2344=)
c.6411A>C (p.Thr2137=)
c.7131A>C (p.Thr2377=)
c.7629A>C (p.Thr2543=)
c.5226A>C (p.Thr1742=)
2g.237344387G>ACA351201684COL6A3c.276C>T
c.7013C>T (p.Thr2338Ile)
c.7631C>T (p.Thr2544Ile)
c.5807C>T (p.Thr1936Ile)
c.5810C>T (p.Thr1937Ile)
n.1885C>T
c.7031C>T (p.Thr2344Ile)
c.6410C>T (p.Thr2137Ile)
c.7130C>T (p.Thr2377Ile)
c.7628C>T (p.Thr2543Ile)
c.5225C>T (p.Thr1742Ile)
 dbSNP gnomAD v4
2g.237344387G>CCA351201686COL6A3c.276C>G
c.7013C>G (p.Thr2338Arg)
c.7631C>G (p.Thr2544Arg)
c.5807C>G (p.Thr1936Arg)
c.5810C>G (p.Thr1937Arg)
n.1885C>G
c.7031C>G (p.Thr2344Arg)
c.6410C>G (p.Thr2137Arg)
c.7130C>G (p.Thr2377Arg)
c.7628C>G (p.Thr2543Arg)
c.5225C>G (p.Thr1742Arg)
2g.237344387G=CA1337610850COL6A3c.276C=
c.7013C= (p.Thr2338=)
c.7631C= (p.Thr2544=)
c.5807C= (p.Thr1936=)
c.5810C= (p.Thr1937=)
n.1885C=
c.7031C= (p.Thr2344=)
c.6410C= (p.Thr2137=)
c.7130C= (p.Thr2377=)
c.7628C= (p.Thr2543=)
c.5225C= (p.Thr1742=)
2g.237344387G>TCA351201691COL6A3c.276C>A
c.7013C>A (p.Thr2338Lys)
c.7631C>A (p.Thr2544Lys)
c.5807C>A (p.Thr1936Lys)
c.5810C>A (p.Thr1937Lys)
n.1885C>A
c.7031C>A (p.Thr2344Lys)
c.6410C>A (p.Thr2137Lys)
c.7130C>A (p.Thr2377Lys)
c.7628C>A (p.Thr2543Lys)
c.5225C>A (p.Thr1742Lys)
 gnomAD v4
2g.237344388T>ACA351201695COL6A3c.275A>T
c.7012A>T (p.Thr2338Ser)
c.7630A>T (p.Thr2544Ser)
c.5806A>T (p.Thr1936Ser)
c.5809A>T (p.Thr1937Ser)
n.1884A>T
c.7030A>T (p.Thr2344Ser)
c.6409A>T (p.Thr2137Ser)
c.7129A>T (p.Thr2377Ser)
c.7627A>T (p.Thr2543Ser)
c.5224A>T (p.Thr1742Ser)
2g.237344388T>CCA351201696COL6A3c.275A>G
c.7012A>G (p.Thr2338Ala)
c.7630A>G (p.Thr2544Ala)
c.5806A>G (p.Thr1936Ala)
c.5809A>G (p.Thr1937Ala)
n.1884A>G
c.7030A>G (p.Thr2344Ala)
c.6409A>G (p.Thr2137Ala)
c.7129A>G (p.Thr2377Ala)
c.7627A>G (p.Thr2543Ala)
c.5224A>G (p.Thr1742Ala)
2g.237344388T>GCA351201693COL6A3c.275A>C
c.7012A>C (p.Thr2338Pro)
c.7630A>C (p.Thr2544Pro)
c.5806A>C (p.Thr1936Pro)
c.5809A>C (p.Thr1937Pro)
n.1884A>C
c.7030A>C (p.Thr2344Pro)
c.6409A>C (p.Thr2137Pro)
c.7129A>C (p.Thr2377Pro)
c.7627A>C (p.Thr2543Pro)
c.5224A>C (p.Thr1742Pro)
2g.237344389A>CCA431710271COL6A3c.274T>G
c.7011T>G (p.Leu2337=)
c.7629T>G (p.Leu2543=)
c.5805T>G (p.Leu1935=)
c.5808T>G (p.Leu1936=)
n.1883T>G
c.7029T>G (p.Leu2343=)
c.6408T>G (p.Leu2136=)
c.7128T>G (p.Leu2376=)
c.7626T>G (p.Leu2542=)
c.5223T>G (p.Leu1741=)
2g.237344389A>GCA431710272COL6A3c.274T>C
c.7011T>C (p.Leu2337=)
c.7629T>C (p.Leu2543=)
c.5805T>C (p.Leu1935=)
c.5808T>C (p.Leu1936=)
n.1883T>C
c.7029T>C (p.Leu2343=)
c.6408T>C (p.Leu2136=)
c.7128T>C (p.Leu2376=)
c.7626T>C (p.Leu2542=)
c.5223T>C (p.Leu1741=)
2g.237344389A>TCA431710273COL6A3c.274T>A
c.7011T>A (p.Leu2337=)
c.7629T>A (p.Leu2543=)
c.5805T>A (p.Leu1935=)
c.5808T>A (p.Leu1936=)
n.1883T>A
c.7029T>A (p.Leu2343=)
c.6408T>A (p.Leu2136=)
c.7128T>A (p.Leu2376=)
c.7626T>A (p.Leu2542=)
c.5223T>A (p.Leu1741=)
2g.237344390A>CCA351201697COL6A3c.273T>G
c.7010T>G (p.Leu2337Arg)
c.7628T>G (p.Leu2543Arg)
c.5804T>G (p.Leu1935Arg)
c.5807T>G (p.Leu1936Arg)
n.1882T>G
c.7028T>G (p.Leu2343Arg)
c.6407T>G (p.Leu2136Arg)
c.7127T>G (p.Leu2376Arg)
c.7625T>G (p.Leu2542Arg)
c.5222T>G (p.Leu1741Arg)
2g.237344390A>GCA351201699COL6A3c.273T>C
c.7010T>C (p.Leu2337Pro)
c.7628T>C (p.Leu2543Pro)
c.5804T>C (p.Leu1935Pro)
c.5807T>C (p.Leu1936Pro)
n.1882T>C
c.7028T>C (p.Leu2343Pro)
c.6407T>C (p.Leu2136Pro)
c.7127T>C (p.Leu2376Pro)
c.7625T>C (p.Leu2542Pro)
c.5222T>C (p.Leu1741Pro)
2g.237344390A>TCA351201703COL6A3c.273T>A
c.7010T>A (p.Leu2337His)
c.7628T>A (p.Leu2543His)
c.5804T>A (p.Leu1935His)
c.5807T>A (p.Leu1936His)
n.1882T>A
c.7028T>A (p.Leu2343His)
c.6407T>A (p.Leu2136His)
c.7127T>A (p.Leu2376His)
c.7625T>A (p.Leu2542His)
c.5222T>A (p.Leu1741His)

Number of alleles fetched