Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.237344531C>ACA351202668COL6A3c.132G>T
c.6869G>T (p.Arg2290Met)
c.7487G>T (p.Arg2496Met)
c.5663G>T (p.Arg1888Met)
c.5666G>T (p.Arg1889Met)
n.1741G>T
c.6887G>T (p.Arg2296Met)
c.6266G>T (p.Arg2089Met)
c.6986G>T (p.Arg2329Met)
c.7484G>T (p.Arg2495Met)
c.5081G>T (p.Arg1694Met)
2g.237344531C>GCA351202670COL6A3c.132G>C
c.6869G>C (p.Arg2290Thr)
c.7487G>C (p.Arg2496Thr)
c.5663G>C (p.Arg1888Thr)
c.5666G>C (p.Arg1889Thr)
n.1741G>C
c.6887G>C (p.Arg2296Thr)
c.6266G>C (p.Arg2089Thr)
c.6986G>C (p.Arg2329Thr)
c.7484G>C (p.Arg2495Thr)
c.5081G>C (p.Arg1694Thr)
2g.237344531C>TCA351202672COL6A3c.132G>A
c.6869G>A (p.Arg2290Lys)
c.7487G>A (p.Arg2496Lys)
c.5663G>A (p.Arg1888Lys)
c.5666G>A (p.Arg1889Lys)
n.1741G>A
c.6887G>A (p.Arg2296Lys)
c.6266G>A (p.Arg2089Lys)
c.6986G>A (p.Arg2329Lys)
c.7484G>A (p.Arg2495Lys)
c.5081G>A (p.Arg1694Lys)
2g.237344532T>ACA351202675COL6A3c.131A>T
c.6868A>T (p.Arg2290Trp)
c.7486A>T (p.Arg2496Trp)
c.5662A>T (p.Arg1888Trp)
c.5665A>T (p.Arg1889Trp)
n.1740A>T
c.6886A>T (p.Arg2296Trp)
c.6265A>T (p.Arg2089Trp)
c.6985A>T (p.Arg2329Trp)
c.7483A>T (p.Arg2495Trp)
c.5080A>T (p.Arg1694Trp)
2g.237344532T>CCA351202677COL6A3c.131A>G
c.6868A>G (p.Arg2290Gly)
c.7486A>G (p.Arg2496Gly)
c.5662A>G (p.Arg1888Gly)
c.5665A>G (p.Arg1889Gly)
n.1740A>G
c.6886A>G (p.Arg2296Gly)
c.6265A>G (p.Arg2089Gly)
c.6985A>G (p.Arg2329Gly)
c.7483A>G (p.Arg2495Gly)
c.5080A>G (p.Arg1694Gly)
2g.237344532T>GCA431710433COL6A3c.131A>C
c.6868A>C (p.Arg2290=)
c.7486A>C (p.Arg2496=)
c.5662A>C (p.Arg1888=)
c.5665A>C (p.Arg1889=)
n.1740A>C
c.6886A>C (p.Arg2296=)
c.6265A>C (p.Arg2089=)
c.6985A>C (p.Arg2329=)
c.7483A>C (p.Arg2495=)
c.5080A>C (p.Arg1694=)
2g.237344533G>ACA431710438COL6A3c.130C>T
c.6867C>T (p.Ala2289=)
c.7485C>T (p.Ala2495=)
c.5661C>T (p.Ala1887=)
c.5664C>T (p.Ala1888=)
n.1739C>T
c.6885C>T (p.Ala2295=)
c.6264C>T (p.Ala2088=)
c.6984C>T (p.Ala2328=)
c.7482C>T (p.Ala2494=)
c.5079C>T (p.Ala1693=)
2g.237344533G>CCA431710435COL6A3c.130C>G
c.6867C>G (p.Ala2289=)
c.7485C>G (p.Ala2495=)
c.5661C>G (p.Ala1887=)
c.5664C>G (p.Ala1888=)
n.1739C>G
c.6885C>G (p.Ala2295=)
c.6264C>G (p.Ala2088=)
c.6984C>G (p.Ala2328=)
c.7482C>G (p.Ala2494=)
c.5079C>G (p.Ala1693=)
2g.237344533G>TCA431710437COL6A3c.130C>A
c.6867C>A (p.Ala2289=)
c.7485C>A (p.Ala2495=)
c.5661C>A (p.Ala1887=)
c.5664C>A (p.Ala1888=)
n.1739C>A
c.6885C>A (p.Ala2295=)
c.6264C>A (p.Ala2088=)
c.6984C>A (p.Ala2328=)
c.7482C>A (p.Ala2494=)
c.5079C>A (p.Ala1693=)
 gnomAD v4
2g.237344534G>ACA351202681COL6A3c.129C>T
c.6866C>T (p.Ala2289Val)
c.7484C>T (p.Ala2495Val)
c.5660C>T (p.Ala1887Val)
c.5663C>T (p.Ala1888Val)
n.1738C>T
c.6884C>T (p.Ala2295Val)
c.6263C>T (p.Ala2088Val)
c.6983C>T (p.Ala2328Val)
c.7481C>T (p.Ala2494Val)
c.5078C>T (p.Ala1693Val)
 gnomAD v4
2g.237344534G>CCA351202685COL6A3c.129C>G
c.6866C>G (p.Ala2289Gly)
c.7484C>G (p.Ala2495Gly)
c.5660C>G (p.Ala1887Gly)
c.5663C>G (p.Ala1888Gly)
n.1738C>G
c.6884C>G (p.Ala2295Gly)
c.6263C>G (p.Ala2088Gly)
c.6983C>G (p.Ala2328Gly)
c.7481C>G (p.Ala2494Gly)
c.5078C>G (p.Ala1693Gly)
2g.237344534G=CA1337610921COL6A3c.129C=
c.6866C= (p.Ala2289=)
c.7484C= (p.Ala2495=)
c.5660C= (p.Ala1887=)
c.5663C= (p.Ala1888=)
n.1738C=
c.6884C= (p.Ala2295=)
c.6263C= (p.Ala2088=)
c.6983C= (p.Ala2328=)
c.7481C= (p.Ala2494=)
c.5078C= (p.Ala1693=)
2g.237344534G>TCA67839207COL6A3c.129C>A
c.6866C>A (p.Ala2289Asp)
c.7484C>A (p.Ala2495Asp)
c.5660C>A (p.Ala1887Asp)
c.5663C>A (p.Ala1888Asp)
n.1738C>A
c.6884C>A (p.Ala2295Asp)
c.6263C>A (p.Ala2088Asp)
c.6983C>A (p.Ala2328Asp)
c.7481C>A (p.Ala2494Asp)
c.5078C>A (p.Ala1693Asp)
 dbSNP
2g.237344535C>ACA351202689COL6A3c.128G>T
c.6865G>T (p.Ala2289Ser)
c.7483G>T (p.Ala2495Ser)
c.5659G>T (p.Ala1887Ser)
c.5662G>T (p.Ala1888Ser)
n.1737G>T
c.6883G>T (p.Ala2295Ser)
c.6262G>T (p.Ala2088Ser)
c.6982G>T (p.Ala2328Ser)
c.7480G>T (p.Ala2494Ser)
c.5077G>T (p.Ala1693Ser)
 COSMIC
2g.237344535C>GCA351202692COL6A3c.128G>C
c.6865G>C (p.Ala2289Pro)
c.7483G>C (p.Ala2495Pro)
c.5659G>C (p.Ala1887Pro)
c.5662G>C (p.Ala1888Pro)
n.1737G>C
c.6883G>C (p.Ala2295Pro)
c.6262G>C (p.Ala2088Pro)
c.6982G>C (p.Ala2328Pro)
c.7480G>C (p.Ala2494Pro)
c.5077G>C (p.Ala1693Pro)
2g.237344535C>TCA351202690COL6A3c.128G>A
c.6865G>A (p.Ala2289Thr)
c.7483G>A (p.Ala2495Thr)
c.5659G>A (p.Ala1887Thr)
c.5662G>A (p.Ala1888Thr)
n.1737G>A
c.6883G>A (p.Ala2295Thr)
c.6262G>A (p.Ala2088Thr)
c.6982G>A (p.Ala2328Thr)
c.7480G>A (p.Ala2494Thr)
c.5077G>A (p.Ala1693Thr)
2g.237344536C>ACA431710439COL6A3c.127G>T
c.6864G>T (p.Val2288=)
c.7482G>T (p.Val2494=)
c.5658G>T (p.Val1886=)
c.5661G>T (p.Val1887=)
n.1736G>T
c.6882G>T (p.Val2294=)
c.6261G>T (p.Val2087=)
c.6981G>T (p.Val2327=)
c.7479G>T (p.Val2493=)
c.5076G>T (p.Val1692=)
2g.237344536C>GCA431710440COL6A3c.127G>C
c.6864G>C (p.Val2288=)
c.7482G>C (p.Val2494=)
c.5658G>C (p.Val1886=)
c.5661G>C (p.Val1887=)
n.1736G>C
c.6882G>C (p.Val2294=)
c.6261G>C (p.Val2087=)
c.6981G>C (p.Val2327=)
c.7479G>C (p.Val2493=)
c.5076G>C (p.Val1692=)
2g.237344536C>TCA431710441COL6A3c.127G>A
c.6864G>A (p.Val2288=)
c.7482G>A (p.Val2494=)
c.5658G>A (p.Val1886=)
c.5661G>A (p.Val1887=)
n.1736G>A
c.6882G>A (p.Val2294=)
c.6261G>A (p.Val2087=)
c.6981G>A (p.Val2327=)
c.7479G>A (p.Val2493=)
c.5076G>A (p.Val1692=)
2g.237344537A>CCA351202694COL6A3c.126T>G
c.6863T>G (p.Val2288Gly)
c.7481T>G (p.Val2494Gly)
c.5657T>G (p.Val1886Gly)
c.5660T>G (p.Val1887Gly)
n.1735T>G
c.6881T>G (p.Val2294Gly)
c.6260T>G (p.Val2087Gly)
c.6980T>G (p.Val2327Gly)
c.7478T>G (p.Val2493Gly)
c.5075T>G (p.Val1692Gly)
2g.237344537A>GCA351202699COL6A3c.126T>C
c.6863T>C (p.Val2288Ala)
c.7481T>C (p.Val2494Ala)
c.5657T>C (p.Val1886Ala)
c.5660T>C (p.Val1887Ala)
n.1735T>C
c.6881T>C (p.Val2294Ala)
c.6260T>C (p.Val2087Ala)
c.6980T>C (p.Val2327Ala)
c.7478T>C (p.Val2493Ala)
c.5075T>C (p.Val1692Ala)
2g.237344537A>TCA351202695COL6A3c.126T>A
c.6863T>A (p.Val2288Glu)
c.7481T>A (p.Val2494Glu)
c.5657T>A (p.Val1886Glu)
c.5660T>A (p.Val1887Glu)
n.1735T>A
c.6881T>A (p.Val2294Glu)
c.6260T>A (p.Val2087Glu)
c.6980T>A (p.Val2327Glu)
c.7478T>A (p.Val2493Glu)
c.5075T>A (p.Val1692Glu)
2g.237344538C>ACA10606424COL6A3c.125G>T
c.6862G>T (p.Val2288Leu)
c.7480G>T (p.Val2494Leu)
c.5656G>T (p.Val1886Leu)
c.5659G>T (p.Val1887Leu)
n.1734G>T
c.6880G>T (p.Val2294Leu)
c.6259G>T (p.Val2087Leu)
c.6979G>T (p.Val2327Leu)
c.7477G>T (p.Val2493Leu)
c.5074G>T (p.Val1692Leu)
 ClinVar dbSNP gnomAD v4
2g.237344538C=CA1337610922COL6A3c.125G=
c.6862G= (p.Val2288=)
c.7480G= (p.Val2494=)
c.5656G= (p.Val1886=)
c.5659G= (p.Val1887=)
n.1734G=
c.6880G= (p.Val2294=)
c.6259G= (p.Val2087=)
c.6979G= (p.Val2327=)
c.7477G= (p.Val2493=)
c.5074G= (p.Val1692=)
2g.237344538C>GCA351202707COL6A3c.125G>C
c.6862G>C (p.Val2288Leu)
c.7480G>C (p.Val2494Leu)
c.5656G>C (p.Val1886Leu)
c.5659G>C (p.Val1887Leu)
n.1734G>C
c.6880G>C (p.Val2294Leu)
c.6259G>C (p.Val2087Leu)
c.6979G>C (p.Val2327Leu)
c.7477G>C (p.Val2493Leu)
c.5074G>C (p.Val1692Leu)
2g.237344538C>TCA351202709COL6A3c.125G>A
c.6862G>A (p.Val2288Met)
c.7480G>A (p.Val2494Met)
c.5656G>A (p.Val1886Met)
c.5659G>A (p.Val1887Met)
n.1734G>A
c.6880G>A (p.Val2294Met)
c.6259G>A (p.Val2087Met)
c.6979G>A (p.Val2327Met)
c.7477G>A (p.Val2493Met)
c.5074G>A (p.Val1692Met)
2g.237344539A>CCA351202713COL6A3c.124T>G
c.6861T>G (p.Phe2287Leu)
c.7479T>G (p.Phe2493Leu)
c.5655T>G (p.Phe1885Leu)
c.5658T>G (p.Phe1886Leu)
n.1733T>G
c.6879T>G (p.Phe2293Leu)
c.6258T>G (p.Phe2086Leu)
c.6978T>G (p.Phe2326Leu)
c.7476T>G (p.Phe2492Leu)
c.5073T>G (p.Phe1691Leu)
2g.237344539A>GCA431710450COL6A3c.124T>C
c.6861T>C (p.Phe2287=)
c.7479T>C (p.Phe2493=)
c.5655T>C (p.Phe1885=)
c.5658T>C (p.Phe1886=)
n.1733T>C
c.6879T>C (p.Phe2293=)
c.6258T>C (p.Phe2086=)
c.6978T>C (p.Phe2326=)
c.7476T>C (p.Phe2492=)
c.5073T>C (p.Phe1691=)
2g.237344539A>TCA351202715COL6A3c.124T>A
c.6861T>A (p.Phe2287Leu)
c.7479T>A (p.Phe2493Leu)
c.5655T>A (p.Phe1885Leu)
c.5658T>A (p.Phe1886Leu)
n.1733T>A
c.6879T>A (p.Phe2293Leu)
c.6258T>A (p.Phe2086Leu)
c.6978T>A (p.Phe2326Leu)
c.7476T>A (p.Phe2492Leu)
c.5073T>A (p.Phe1691Leu)
2g.237344540A>CCA351202723COL6A3c.123T>G
c.6860T>G (p.Phe2287Cys)
c.7478T>G (p.Phe2493Cys)
c.5654T>G (p.Phe1885Cys)
c.5657T>G (p.Phe1886Cys)
n.1732T>G
c.6878T>G (p.Phe2293Cys)
c.6257T>G (p.Phe2086Cys)
c.6977T>G (p.Phe2326Cys)
c.7475T>G (p.Phe2492Cys)
c.5072T>G (p.Phe1691Cys)
2g.237344540A>GCA351202725COL6A3c.123T>C
c.6860T>C (p.Phe2287Ser)
c.7478T>C (p.Phe2493Ser)
c.5654T>C (p.Phe1885Ser)
c.5657T>C (p.Phe1886Ser)
n.1732T>C
c.6878T>C (p.Phe2293Ser)
c.6257T>C (p.Phe2086Ser)
c.6977T>C (p.Phe2326Ser)
c.7475T>C (p.Phe2492Ser)
c.5072T>C (p.Phe1691Ser)
2g.237344540A>TCA351202728COL6A3c.123T>A
c.6860T>A (p.Phe2287Tyr)
c.7478T>A (p.Phe2493Tyr)
c.5654T>A (p.Phe1885Tyr)
c.5657T>A (p.Phe1886Tyr)
n.1732T>A
c.6878T>A (p.Phe2293Tyr)
c.6257T>A (p.Phe2086Tyr)
c.6977T>A (p.Phe2326Tyr)
c.7475T>A (p.Phe2492Tyr)
c.5072T>A (p.Phe1691Tyr)
2g.237344541A=CA1337610923COL6A3c.122T=
c.6859T= (p.Phe2287=)
c.7477T= (p.Phe2493=)
c.5653T= (p.Phe1885=)
c.5656T= (p.Phe1886=)
n.1731T=
c.6877T= (p.Phe2293=)
c.6256T= (p.Phe2086=)
c.6976T= (p.Phe2326=)
c.7474T= (p.Phe2492=)
c.5071T= (p.Phe1691=)
2g.237344541A>CCA351202731COL6A3c.122T>G
c.6859T>G (p.Phe2287Val)
c.7477T>G (p.Phe2493Val)
c.5653T>G (p.Phe1885Val)
c.5656T>G (p.Phe1886Val)
n.1731T>G
c.6877T>G (p.Phe2293Val)
c.6256T>G (p.Phe2086Val)
c.6976T>G (p.Phe2326Val)
c.7474T>G (p.Phe2492Val)
c.5071T>G (p.Phe1691Val)
2g.237344541A>GCA2187794COL6A3c.122T>C
c.6859T>C (p.Phe2287Leu)
c.7477T>C (p.Phe2493Leu)
c.5653T>C (p.Phe1885Leu)
c.5656T>C (p.Phe1886Leu)
n.1731T>C
c.6877T>C (p.Phe2293Leu)
c.6256T>C (p.Phe2086Leu)
c.6976T>C (p.Phe2326Leu)
c.7474T>C (p.Phe2492Leu)
c.5071T>C (p.Phe1691Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344541A>TCA351202736COL6A3c.122T>A
c.6859T>A (p.Phe2287Ile)
c.7477T>A (p.Phe2493Ile)
c.5653T>A (p.Phe1885Ile)
c.5656T>A (p.Phe1886Ile)
n.1731T>A
c.6877T>A (p.Phe2293Ile)
c.6256T>A (p.Phe2086Ile)
c.6976T>A (p.Phe2326Ile)
c.7474T>A (p.Phe2492Ile)
c.5071T>A (p.Phe1691Ile)
2g.237344542C>ACA431710456COL6A3c.121G>T
c.6858G>T (p.Ser2286=)
c.7476G>T (p.Ser2492=)
c.5652G>T (p.Ser1884=)
c.5655G>T (p.Ser1885=)
n.1730G>T
c.6876G>T (p.Ser2292=)
c.6255G>T (p.Ser2085=)
c.6975G>T (p.Ser2325=)
c.7473G>T (p.Ser2491=)
c.5070G>T (p.Ser1690=)
2g.237344542C=CA1337610924COL6A3c.121G=
c.6858G= (p.Ser2286=)
c.7476G= (p.Ser2492=)
c.5652G= (p.Ser1884=)
c.5655G= (p.Ser1885=)
n.1730G=
c.6876G= (p.Ser2292=)
c.6255G= (p.Ser2085=)
c.6975G= (p.Ser2325=)
c.7473G= (p.Ser2491=)
c.5070G= (p.Ser1690=)
2g.237344542C>GCA431710458COL6A3c.121G>C
c.6858G>C (p.Ser2286=)
c.7476G>C (p.Ser2492=)
c.5652G>C (p.Ser1884=)
c.5655G>C (p.Ser1885=)
n.1730G>C
c.6876G>C (p.Ser2292=)
c.6255G>C (p.Ser2085=)
c.6975G>C (p.Ser2325=)
c.7473G>C (p.Ser2491=)
c.5070G>C (p.Ser1690=)
2g.237344542C>TCA2187795COL6A3c.121G>A
c.6858G>A (p.Ser2286=)
c.7476G>A (p.Ser2492=)
c.5652G>A (p.Ser1884=)
c.5655G>A (p.Ser1885=)
n.1730G>A
c.6876G>A (p.Ser2292=)
c.6255G>A (p.Ser2085=)
c.6975G>A (p.Ser2325=)
c.7473G>A (p.Ser2491=)
c.5070G>A (p.Ser1690=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344543G>ACA2187796COL6A3c.120C>T
c.6857C>T (p.Ser2286Leu)
c.7475C>T (p.Ser2492Leu)
c.5651C>T (p.Ser1884Leu)
c.5654C>T (p.Ser1885Leu)
n.1729C>T
c.6875C>T (p.Ser2292Leu)
c.6254C>T (p.Ser2085Leu)
c.6974C>T (p.Ser2325Leu)
c.7472C>T (p.Ser2491Leu)
c.5069C>T (p.Ser1690Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237344543G>CCA351202751COL6A3c.120C>G
c.6857C>G (p.Ser2286Trp)
c.7475C>G (p.Ser2492Trp)
c.5651C>G (p.Ser1884Trp)
c.5654C>G (p.Ser1885Trp)
n.1729C>G
c.6875C>G (p.Ser2292Trp)
c.6254C>G (p.Ser2085Trp)
c.6974C>G (p.Ser2325Trp)
c.7472C>G (p.Ser2491Trp)
c.5069C>G (p.Ser1690Trp)
2g.237344543G=CA1337610925COL6A3c.120C=
c.6857C= (p.Ser2286=)
c.7475C= (p.Ser2492=)
c.5651C= (p.Ser1884=)
c.5654C= (p.Ser1885=)
n.1729C=
c.6875C= (p.Ser2292=)
c.6254C= (p.Ser2085=)
c.6974C= (p.Ser2325=)
c.7472C= (p.Ser2491=)
c.5069C= (p.Ser1690=)
2g.237344543G>TCA351202754COL6A3c.120C>A
c.6857C>A (p.Ser2286Ter)
c.7475C>A (p.Ser2492Ter)
c.5651C>A (p.Ser1884Ter)
c.5654C>A (p.Ser1885Ter)
n.1729C>A
c.6875C>A (p.Ser2292Ter)
c.6254C>A (p.Ser2085Ter)
c.6974C>A (p.Ser2325Ter)
c.7472C>A (p.Ser2491Ter)
c.5069C>A (p.Ser1690Ter)
2g.237344544A=CA1337610926COL6A3c.119T=
c.6856T= (p.Ser2286=)
c.7474T= (p.Ser2492=)
c.5650T= (p.Ser1884=)
c.5653T= (p.Ser1885=)
n.1728T=
c.6874T= (p.Ser2292=)
c.6253T= (p.Ser2085=)
c.6973T= (p.Ser2325=)
c.7471T= (p.Ser2491=)
c.5068T= (p.Ser1690=)
2g.237344544A>CCA351202758COL6A3c.119T>G
c.6856T>G (p.Ser2286Ala)
c.7474T>G (p.Ser2492Ala)
c.5650T>G (p.Ser1884Ala)
c.5653T>G (p.Ser1885Ala)
n.1728T>G
c.6874T>G (p.Ser2292Ala)
c.6253T>G (p.Ser2085Ala)
c.6973T>G (p.Ser2325Ala)
c.7471T>G (p.Ser2491Ala)
c.5068T>G (p.Ser1690Ala)
2g.237344544A>GCA351202764COL6A3c.119T>C
c.6856T>C (p.Ser2286Pro)
c.7474T>C (p.Ser2492Pro)
c.5650T>C (p.Ser1884Pro)
c.5653T>C (p.Ser1885Pro)
n.1728T>C
c.6874T>C (p.Ser2292Pro)
c.6253T>C (p.Ser2085Pro)
c.6973T>C (p.Ser2325Pro)
c.7471T>C (p.Ser2491Pro)
c.5068T>C (p.Ser1690Pro)
2g.237344544A>TCA351202761COL6A3c.119T>A
c.6856T>A (p.Ser2286Thr)
c.7474T>A (p.Ser2492Thr)
c.5650T>A (p.Ser1884Thr)
c.5653T>A (p.Ser1885Thr)
n.1728T>A
c.6874T>A (p.Ser2292Thr)
c.6253T>A (p.Ser2085Thr)
c.6973T>A (p.Ser2325Thr)
c.7471T>A (p.Ser2491Thr)
c.5068T>A (p.Ser1690Thr)
 dbSNP gnomAD v4
2g.237344545C>ACA351202768COL6A3c.118G>T
c.6855G>T (p.Met2285Ile)
c.7473G>T (p.Met2491Ile)
c.5649G>T (p.Met1883Ile)
c.5652G>T (p.Met1884Ile)
n.1727G>T
c.6873G>T (p.Met2291Ile)
c.6252G>T (p.Met2084Ile)
c.6972G>T (p.Met2324Ile)
c.7470G>T (p.Met2490Ile)
c.5067G>T (p.Met1689Ile)
2g.237344545C=CA1337610927COL6A3c.118G=
c.6855G= (p.Met2285=)
c.7473G= (p.Met2491=)
c.5649G= (p.Met1883=)
c.5652G= (p.Met1884=)
n.1727G=
c.6873G= (p.Met2291=)
c.6252G= (p.Met2084=)
c.6972G= (p.Met2324=)
c.7470G= (p.Met2490=)
c.5067G= (p.Met1689=)
2g.237344545C>GCA351202771COL6A3c.118G>C
c.6855G>C (p.Met2285Ile)
c.7473G>C (p.Met2491Ile)
c.5649G>C (p.Met1883Ile)
c.5652G>C (p.Met1884Ile)
n.1727G>C
c.6873G>C (p.Met2291Ile)
c.6252G>C (p.Met2084Ile)
c.6972G>C (p.Met2324Ile)
c.7470G>C (p.Met2490Ile)
c.5067G>C (p.Met1689Ile)
2g.237344545C>TCA2187797COL6A3c.118G>A
c.6855G>A (p.Met2285Ile)
c.7473G>A (p.Met2491Ile)
c.5649G>A (p.Met1883Ile)
c.5652G>A (p.Met1884Ile)
n.1727G>A
c.6873G>A (p.Met2291Ile)
c.6252G>A (p.Met2084Ile)
c.6972G>A (p.Met2324Ile)
c.7470G>A (p.Met2490Ile)
c.5067G>A (p.Met1689Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344546A=CA1337610928COL6A3c.117T=
c.6854T= (p.Met2285=)
c.7472T= (p.Met2491=)
c.5648T= (p.Met1883=)
c.5651T= (p.Met1884=)
n.1726T=
c.6872T= (p.Met2291=)
c.6251T= (p.Met2084=)
c.6971T= (p.Met2324=)
c.7469T= (p.Met2490=)
c.5066T= (p.Met1689=)
2g.237344546A>CCA351202776COL6A3c.117T>G
c.6854T>G (p.Met2285Arg)
c.7472T>G (p.Met2491Arg)
c.5648T>G (p.Met1883Arg)
c.5651T>G (p.Met1884Arg)
n.1726T>G
c.6872T>G (p.Met2291Arg)
c.6251T>G (p.Met2084Arg)
c.6971T>G (p.Met2324Arg)
c.7469T>G (p.Met2490Arg)
c.5066T>G (p.Met1689Arg)
2g.237344546A>GCA351202778COL6A3c.117T>C
c.6854T>C (p.Met2285Thr)
c.7472T>C (p.Met2491Thr)
c.5648T>C (p.Met1883Thr)
c.5651T>C (p.Met1884Thr)
n.1726T>C
c.6872T>C (p.Met2291Thr)
c.6251T>C (p.Met2084Thr)
c.6971T>C (p.Met2324Thr)
c.7469T>C (p.Met2490Thr)
c.5066T>C (p.Met1689Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.237344546A>TCA351202781COL6A3c.117T>A
c.6854T>A (p.Met2285Lys)
c.7472T>A (p.Met2491Lys)
c.5648T>A (p.Met1883Lys)
c.5651T>A (p.Met1884Lys)
n.1726T>A
c.6872T>A (p.Met2291Lys)
c.6251T>A (p.Met2084Lys)
c.6971T>A (p.Met2324Lys)
c.7469T>A (p.Met2490Lys)
c.5066T>A (p.Met1689Lys)
2g.237344547T>ACA351202783COL6A3c.116A>T
c.6853A>T (p.Met2285Leu)
c.7471A>T (p.Met2491Leu)
c.5647A>T (p.Met1883Leu)
c.5650A>T (p.Met1884Leu)
n.1725A>T
c.6871A>T (p.Met2291Leu)
c.6250A>T (p.Met2084Leu)
c.6970A>T (p.Met2324Leu)
c.7468A>T (p.Met2490Leu)
c.5065A>T (p.Met1689Leu)
2g.237344547T>CCA2187798COL6A3c.116A>G
c.6853A>G (p.Met2285Val)
c.7471A>G (p.Met2491Val)
c.5647A>G (p.Met1883Val)
c.5650A>G (p.Met1884Val)
n.1725A>G
c.6871A>G (p.Met2291Val)
c.6250A>G (p.Met2084Val)
c.6970A>G (p.Met2324Val)
c.7468A>G (p.Met2490Val)
c.5065A>G (p.Met1689Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344547T>GCA351202789COL6A3c.116A>C
c.6853A>C (p.Met2285Leu)
c.7471A>C (p.Met2491Leu)
c.5647A>C (p.Met1883Leu)
c.5650A>C (p.Met1884Leu)
n.1725A>C
c.6871A>C (p.Met2291Leu)
c.6250A>C (p.Met2084Leu)
c.6970A>C (p.Met2324Leu)
c.7468A>C (p.Met2490Leu)
c.5065A>C (p.Met1689Leu)
2g.237344547T=CA1337610929COL6A3c.116A=
c.6853A= (p.Met2285=)
c.7471A= (p.Met2491=)
c.5647A= (p.Met1883=)
c.5650A= (p.Met1884=)
n.1725A=
c.6871A= (p.Met2291=)
c.6250A= (p.Met2084=)
c.6970A= (p.Met2324=)
c.7468A= (p.Met2490=)
c.5065A= (p.Met1689=)
2g.237344548G>ACA431710469COL6A3c.115C>T
c.6852C>T (p.Ala2284=)
c.7470C>T (p.Ala2490=)
c.5646C>T (p.Ala1882=)
c.5649C>T (p.Ala1883=)
n.1724C>T
c.6870C>T (p.Ala2290=)
c.6249C>T (p.Ala2083=)
c.6969C>T (p.Ala2323=)
c.7467C>T (p.Ala2489=)
c.5064C>T (p.Ala1688=)
2g.237344548G>CCA431710470COL6A3c.115C>G
c.6852C>G (p.Ala2284=)
c.7470C>G (p.Ala2490=)
c.5646C>G (p.Ala1882=)
c.5649C>G (p.Ala1883=)
n.1724C>G
c.6870C>G (p.Ala2290=)
c.6249C>G (p.Ala2083=)
c.6969C>G (p.Ala2323=)
c.7467C>G (p.Ala2489=)
c.5064C>G (p.Ala1688=)
2g.237344548G>TCA431710471COL6A3c.115C>A
c.6852C>A (p.Ala2284=)
c.7470C>A (p.Ala2490=)
c.5646C>A (p.Ala1882=)
c.5649C>A (p.Ala1883=)
n.1724C>A
c.6870C>A (p.Ala2290=)
c.6249C>A (p.Ala2083=)
c.6969C>A (p.Ala2323=)
c.7467C>A (p.Ala2489=)
c.5064C>A (p.Ala1688=)
2g.237344549G>ACA351202793COL6A3c.114C>T
c.6851C>T (p.Ala2284Val)
c.7469C>T (p.Ala2490Val)
c.5645C>T (p.Ala1882Val)
c.5648C>T (p.Ala1883Val)
n.1723C>T
c.6869C>T (p.Ala2290Val)
c.6248C>T (p.Ala2083Val)
c.6968C>T (p.Ala2323Val)
c.7466C>T (p.Ala2489Val)
c.5063C>T (p.Ala1688Val)
 ClinVar
2g.237344549G>CCA351202797COL6A3c.114C>G
c.6851C>G (p.Ala2284Gly)
c.7469C>G (p.Ala2490Gly)
c.5645C>G (p.Ala1882Gly)
c.5648C>G (p.Ala1883Gly)
n.1723C>G
c.6869C>G (p.Ala2290Gly)
c.6248C>G (p.Ala2083Gly)
c.6968C>G (p.Ala2323Gly)
c.7466C>G (p.Ala2489Gly)
c.5063C>G (p.Ala1688Gly)
2g.237344549G>TCA351202799COL6A3c.114C>A
c.6851C>A (p.Ala2284Asp)
c.7469C>A (p.Ala2490Asp)
c.5645C>A (p.Ala1882Asp)
c.5648C>A (p.Ala1883Asp)
n.1723C>A
c.6869C>A (p.Ala2290Asp)
c.6248C>A (p.Ala2083Asp)
c.6968C>A (p.Ala2323Asp)
c.7466C>A (p.Ala2489Asp)
c.5063C>A (p.Ala1688Asp)
2g.237344550C>ACA351202801COL6A3c.113G>T
c.6850G>T (p.Ala2284Ser)
c.7468G>T (p.Ala2490Ser)
c.5644G>T (p.Ala1882Ser)
c.5647G>T (p.Ala1883Ser)
n.1722G>T
c.6868G>T (p.Ala2290Ser)
c.6247G>T (p.Ala2083Ser)
c.6967G>T (p.Ala2323Ser)
c.7465G>T (p.Ala2489Ser)
c.5062G>T (p.Ala1688Ser)
2g.237344550C=CA1337610930COL6A3c.113G=
c.6850G= (p.Ala2284=)
c.7468G= (p.Ala2490=)
c.5644G= (p.Ala1882=)
c.5647G= (p.Ala1883=)
n.1722G=
c.6868G= (p.Ala2290=)
c.6247G= (p.Ala2083=)
c.6967G= (p.Ala2323=)
c.7465G= (p.Ala2489=)
c.5062G= (p.Ala1688=)
2g.237344550C>GCA351202805COL6A3c.113G>C
c.6850G>C (p.Ala2284Pro)
c.7468G>C (p.Ala2490Pro)
c.5644G>C (p.Ala1882Pro)
c.5647G>C (p.Ala1883Pro)
n.1722G>C
c.6868G>C (p.Ala2290Pro)
c.6247G>C (p.Ala2083Pro)
c.6967G>C (p.Ala2323Pro)
c.7465G>C (p.Ala2489Pro)
c.5062G>C (p.Ala1688Pro)
2g.237344550C>TCA351202803COL6A3c.113G>A
c.6850G>A (p.Ala2284Thr)
c.7468G>A (p.Ala2490Thr)
c.5644G>A (p.Ala1882Thr)
c.5647G>A (p.Ala1883Thr)
n.1722G>A
c.6868G>A (p.Ala2290Thr)
c.6247G>A (p.Ala2083Thr)
c.6967G>A (p.Ala2323Thr)
c.7465G>A (p.Ala2489Thr)
c.5062G>A (p.Ala1688Thr)
 dbSNP
2g.237344551A>CCA431710474COL6A3c.112T>G
c.6849T>G (p.Thr2283=)
c.7467T>G (p.Thr2489=)
c.5643T>G (p.Thr1881=)
c.5646T>G (p.Thr1882=)
n.1721T>G
c.6867T>G (p.Thr2289=)
c.6246T>G (p.Thr2082=)
c.6966T>G (p.Thr2322=)
c.7464T>G (p.Thr2488=)
c.5061T>G (p.Thr1687=)
2g.237344551A>GCA431710476COL6A3c.112T>C
c.6849T>C (p.Thr2283=)
c.7467T>C (p.Thr2489=)
c.5643T>C (p.Thr1881=)
c.5646T>C (p.Thr1882=)
n.1721T>C
c.6867T>C (p.Thr2289=)
c.6246T>C (p.Thr2082=)
c.6966T>C (p.Thr2322=)
c.7464T>C (p.Thr2488=)
c.5061T>C (p.Thr1687=)
2g.237344551A>TCA431710478COL6A3c.112T>A
c.6849T>A (p.Thr2283=)
c.7467T>A (p.Thr2489=)
c.5643T>A (p.Thr1881=)
c.5646T>A (p.Thr1882=)
n.1721T>A
c.6867T>A (p.Thr2289=)
c.6246T>A (p.Thr2082=)
c.6966T>A (p.Thr2322=)
c.7464T>A (p.Thr2488=)
c.5061T>A (p.Thr1687=)
2g.237344552G>ACA351202809COL6A3c.111C>T
c.6848C>T (p.Thr2283Ile)
c.7466C>T (p.Thr2489Ile)
c.5642C>T (p.Thr1881Ile)
c.5645C>T (p.Thr1882Ile)
n.1720C>T
c.6866C>T (p.Thr2289Ile)
c.6245C>T (p.Thr2082Ile)
c.6965C>T (p.Thr2322Ile)
c.7463C>T (p.Thr2488Ile)
c.5060C>T (p.Thr1687Ile)
 ClinVar dbSNP
2g.237344552G>CCA351202811COL6A3c.111C>G
c.6848C>G (p.Thr2283Ser)
c.7466C>G (p.Thr2489Ser)
c.5642C>G (p.Thr1881Ser)
c.5645C>G (p.Thr1882Ser)
n.1720C>G
c.6866C>G (p.Thr2289Ser)
c.6245C>G (p.Thr2082Ser)
c.6965C>G (p.Thr2322Ser)
c.7463C>G (p.Thr2488Ser)
c.5060C>G (p.Thr1687Ser)
2g.237344552G>TCA351202814COL6A3c.111C>A
c.6848C>A (p.Thr2283Asn)
c.7466C>A (p.Thr2489Asn)
c.5642C>A (p.Thr1881Asn)
c.5645C>A (p.Thr1882Asn)
n.1720C>A
c.6866C>A (p.Thr2289Asn)
c.6245C>A (p.Thr2082Asn)
c.6965C>A (p.Thr2322Asn)
c.7463C>A (p.Thr2488Asn)
c.5060C>A (p.Thr1687Asn)
2g.237344553T>ACA351202816COL6A3c.110A>T
c.6847A>T (p.Thr2283Ser)
c.7465A>T (p.Thr2489Ser)
c.5641A>T (p.Thr1881Ser)
c.5644A>T (p.Thr1882Ser)
n.1719A>T
c.6865A>T (p.Thr2289Ser)
c.6244A>T (p.Thr2082Ser)
c.6964A>T (p.Thr2322Ser)
c.7462A>T (p.Thr2488Ser)
c.5059A>T (p.Thr1687Ser)
2g.237344553T>CCA2187799COL6A3c.110A>G
c.6847A>G (p.Thr2283Ala)
c.7465A>G (p.Thr2489Ala)
c.5641A>G (p.Thr1881Ala)
c.5644A>G (p.Thr1882Ala)
n.1719A>G
c.6865A>G (p.Thr2289Ala)
c.6244A>G (p.Thr2082Ala)
c.6964A>G (p.Thr2322Ala)
c.7462A>G (p.Thr2488Ala)
c.5059A>G (p.Thr1687Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344553T>GCA351202819COL6A3c.110A>C
c.6847A>C (p.Thr2283Pro)
c.7465A>C (p.Thr2489Pro)
c.5641A>C (p.Thr1881Pro)
c.5644A>C (p.Thr1882Pro)
n.1719A>C
c.6865A>C (p.Thr2289Pro)
c.6244A>C (p.Thr2082Pro)
c.6964A>C (p.Thr2322Pro)
c.7462A>C (p.Thr2488Pro)
c.5059A>C (p.Thr1687Pro)
2g.237344553T=CA1337610931COL6A3c.110A=
c.6847A= (p.Thr2283=)
c.7465A= (p.Thr2489=)
c.5641A= (p.Thr1881=)
c.5644A= (p.Thr1882=)
n.1719A=
c.6865A= (p.Thr2289=)
c.6244A= (p.Thr2082=)
c.6964A= (p.Thr2322=)
c.7462A= (p.Thr2488=)
c.5059A= (p.Thr1687=)
2g.237344554C>ACA351202821COL6A3c.109G>T
c.6846G>T (p.Glu2282Asp)
c.7464G>T (p.Glu2488Asp)
c.5640G>T (p.Glu1880Asp)
c.5643G>T (p.Glu1881Asp)
n.1718G>T
c.6864G>T (p.Glu2288Asp)
c.6243G>T (p.Glu2081Asp)
c.6963G>T (p.Glu2321Asp)
c.7461G>T (p.Glu2487Asp)
c.5058G>T (p.Glu1686Asp)
2g.237344554C>GCA351202823COL6A3c.109G>C
c.6846G>C (p.Glu2282Asp)
c.7464G>C (p.Glu2488Asp)
c.5640G>C (p.Glu1880Asp)
c.5643G>C (p.Glu1881Asp)
n.1718G>C
c.6864G>C (p.Glu2288Asp)
c.6243G>C (p.Glu2081Asp)
c.6963G>C (p.Glu2321Asp)
c.7461G>C (p.Glu2487Asp)
c.5058G>C (p.Glu1686Asp)
2g.237344554C>TCA431710484COL6A3c.109G>A
c.6846G>A (p.Glu2282=)
c.7464G>A (p.Glu2488=)
c.5640G>A (p.Glu1880=)
c.5643G>A (p.Glu1881=)
n.1718G>A
c.6864G>A (p.Glu2288=)
c.6243G>A (p.Glu2081=)
c.6963G>A (p.Glu2321=)
c.7461G>A (p.Glu2487=)
c.5058G>A (p.Glu1686=)
2g.237344555T>ACA351202827COL6A3c.108A>T
c.6845A>T (p.Glu2282Val)
c.7463A>T (p.Glu2488Val)
c.5639A>T (p.Glu1880Val)
c.5642A>T (p.Glu1881Val)
n.1717A>T
c.6863A>T (p.Glu2288Val)
c.6242A>T (p.Glu2081Val)
c.6962A>T (p.Glu2321Val)
c.7460A>T (p.Glu2487Val)
c.5057A>T (p.Glu1686Val)
 gnomAD v4
2g.237344555T>CCA351202830COL6A3c.108A>G
c.6845A>G (p.Glu2282Gly)
c.7463A>G (p.Glu2488Gly)
c.5639A>G (p.Glu1880Gly)
c.5642A>G (p.Glu1881Gly)
n.1717A>G
c.6863A>G (p.Glu2288Gly)
c.6242A>G (p.Glu2081Gly)
c.6962A>G (p.Glu2321Gly)
c.7460A>G (p.Glu2487Gly)
c.5057A>G (p.Glu1686Gly)
 ClinVar
2g.237344555T>GCA351202831COL6A3c.108A>C
c.6845A>C (p.Glu2282Ala)
c.7463A>C (p.Glu2488Ala)
c.5639A>C (p.Glu1880Ala)
c.5642A>C (p.Glu1881Ala)
n.1717A>C
c.6863A>C (p.Glu2288Ala)
c.6242A>C (p.Glu2081Ala)
c.6962A>C (p.Glu2321Ala)
c.7460A>C (p.Glu2487Ala)
c.5057A>C (p.Glu1686Ala)
2g.237344556C>ACA351202832COL6A3c.107G>T
c.6844G>T (p.Glu2282Ter)
c.7462G>T (p.Glu2488Ter)
c.5638G>T (p.Glu1880Ter)
c.5641G>T (p.Glu1881Ter)
n.1716G>T
c.6862G>T (p.Glu2288Ter)
c.6241G>T (p.Glu2081Ter)
c.6961G>T (p.Glu2321Ter)
c.7459G>T (p.Glu2487Ter)
c.5056G>T (p.Glu1686Ter)
2g.237344556C>GCA351202833COL6A3c.107G>C
c.6844G>C (p.Glu2282Gln)
c.7462G>C (p.Glu2488Gln)
c.5638G>C (p.Glu1880Gln)
c.5641G>C (p.Glu1881Gln)
n.1716G>C
c.6862G>C (p.Glu2288Gln)
c.6241G>C (p.Glu2081Gln)
c.6961G>C (p.Glu2321Gln)
c.7459G>C (p.Glu2487Gln)
c.5056G>C (p.Glu1686Gln)
2g.237344556C>TCA351202835COL6A3c.107G>A
c.6844G>A (p.Glu2282Lys)
c.7462G>A (p.Glu2488Lys)
c.5638G>A (p.Glu1880Lys)
c.5641G>A (p.Glu1881Lys)
n.1716G>A
c.6862G>A (p.Glu2288Lys)
c.6241G>A (p.Glu2081Lys)
c.6961G>A (p.Glu2321Lys)
c.7459G>A (p.Glu2487Lys)
c.5056G>A (p.Glu1686Lys)
 ClinVar dbSNP
2g.237344557C>ACA431710491COL6A3c.106G>T
c.6843G>T (p.Leu2281=)
c.7461G>T (p.Leu2487=)
c.5637G>T (p.Leu1879=)
c.5640G>T (p.Leu1880=)
n.1715G>T
c.6861G>T (p.Leu2287=)
c.6240G>T (p.Leu2080=)
c.6960G>T (p.Leu2320=)
c.7458G>T (p.Leu2486=)
c.5055G>T (p.Leu1685=)
2g.237344557C=CA1337610932COL6A3c.106G=
c.6843G= (p.Leu2281=)
c.7461G= (p.Leu2487=)
c.5637G= (p.Leu1879=)
c.5640G= (p.Leu1880=)
n.1715G=
c.6861G= (p.Leu2287=)
c.6240G= (p.Leu2080=)
c.6960G= (p.Leu2320=)
c.7458G= (p.Leu2486=)
c.5055G= (p.Leu1685=)
2g.237344557C>GCA431710488COL6A3c.106G>C
c.6843G>C (p.Leu2281=)
c.7461G>C (p.Leu2487=)
c.5637G>C (p.Leu1879=)
c.5640G>C (p.Leu1880=)
n.1715G>C
c.6861G>C (p.Leu2287=)
c.6240G>C (p.Leu2080=)
c.6960G>C (p.Leu2320=)
c.7458G>C (p.Leu2486=)
c.5055G>C (p.Leu1685=)
2g.237344557C>TCA10606695COL6A3c.106G>A
c.6843G>A (p.Leu2281=)
c.7461G>A (p.Leu2487=)
c.5637G>A (p.Leu1879=)
c.5640G>A (p.Leu1880=)
n.1715G>A
c.6861G>A (p.Leu2287=)
c.6240G>A (p.Leu2080=)
c.6960G>A (p.Leu2320=)
c.7458G>A (p.Leu2486=)
c.5055G>A (p.Leu1685=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237344558A>CCA351202840COL6A3c.105T>G
c.6842T>G (p.Leu2281Arg)
c.7460T>G (p.Leu2487Arg)
c.5636T>G (p.Leu1879Arg)
c.5639T>G (p.Leu1880Arg)
n.1714T>G
c.6860T>G (p.Leu2287Arg)
c.6239T>G (p.Leu2080Arg)
c.6959T>G (p.Leu2320Arg)
c.7457T>G (p.Leu2486Arg)
c.5054T>G (p.Leu1685Arg)
2g.237344558A>GCA351202843COL6A3c.105T>C
c.6842T>C (p.Leu2281Pro)
c.7460T>C (p.Leu2487Pro)
c.5636T>C (p.Leu1879Pro)
c.5639T>C (p.Leu1880Pro)
n.1714T>C
c.6860T>C (p.Leu2287Pro)
c.6239T>C (p.Leu2080Pro)
c.6959T>C (p.Leu2320Pro)
c.7457T>C (p.Leu2486Pro)
c.5054T>C (p.Leu1685Pro)
2g.237344558A>TCA351202845COL6A3c.105T>A
c.6842T>A (p.Leu2281Gln)
c.7460T>A (p.Leu2487Gln)
c.5636T>A (p.Leu1879Gln)
c.5639T>A (p.Leu1880Gln)
n.1714T>A
c.6860T>A (p.Leu2287Gln)
c.6239T>A (p.Leu2080Gln)
c.6959T>A (p.Leu2320Gln)
c.7457T>A (p.Leu2486Gln)
c.5054T>A (p.Leu1685Gln)
2g.237344559G>ACA2187800COL6A3c.104C>T
c.6841C>T (p.Leu2281=)
c.7459C>T (p.Leu2487=)
c.5635C>T (p.Leu1879=)
c.5638C>T (p.Leu1880=)
n.1713C>T
c.6859C>T (p.Leu2287=)
c.6238C>T (p.Leu2080=)
c.6958C>T (p.Leu2320=)
c.7456C>T (p.Leu2486=)
c.5053C>T (p.Leu1685=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344559G>CCA351202848COL6A3c.104C>G
c.6841C>G (p.Leu2281Val)
c.7459C>G (p.Leu2487Val)
c.5635C>G (p.Leu1879Val)
c.5638C>G (p.Leu1880Val)
n.1713C>G
c.6859C>G (p.Leu2287Val)
c.6238C>G (p.Leu2080Val)
c.6958C>G (p.Leu2320Val)
c.7456C>G (p.Leu2486Val)
c.5053C>G (p.Leu1685Val)
 gnomAD v4
2g.237344559G=CA1337610933COL6A3c.104C=
c.6841C= (p.Leu2281=)
c.7459C= (p.Leu2487=)
c.5635C= (p.Leu1879=)
c.5638C= (p.Leu1880=)
n.1713C=
c.6859C= (p.Leu2287=)
c.6238C= (p.Leu2080=)
c.6958C= (p.Leu2320=)
c.7456C= (p.Leu2486=)
c.5053C= (p.Leu1685=)
2g.237344559G>TCA351202849COL6A3c.104C>A
c.6841C>A (p.Leu2281Met)
c.7459C>A (p.Leu2487Met)
c.5635C>A (p.Leu1879Met)
c.5638C>A (p.Leu1880Met)
n.1713C>A
c.6859C>A (p.Leu2287Met)
c.6238C>A (p.Leu2080Met)
c.6958C>A (p.Leu2320Met)
c.7456C>A (p.Leu2486Met)
c.5053C>A (p.Leu1685Met)
2g.237344560A>CCA351202851COL6A3c.103T>G
c.6840T>G (p.Ser2280Arg)
c.7458T>G (p.Ser2486Arg)
c.5634T>G (p.Ser1878Arg)
c.5637T>G (p.Ser1879Arg)
n.1712T>G
c.6858T>G (p.Ser2286Arg)
c.6237T>G (p.Ser2079Arg)
c.6957T>G (p.Ser2319Arg)
c.7455T>G (p.Ser2485Arg)
c.5052T>G (p.Ser1684Arg)
2g.237344560A>GCA431710496COL6A3c.103T>C
c.6840T>C (p.Ser2280=)
c.7458T>C (p.Ser2486=)
c.5634T>C (p.Ser1878=)
c.5637T>C (p.Ser1879=)
n.1712T>C
c.6858T>C (p.Ser2286=)
c.6237T>C (p.Ser2079=)
c.6957T>C (p.Ser2319=)
c.7455T>C (p.Ser2485=)
c.5052T>C (p.Ser1684=)
2g.237344560A>TCA351202853COL6A3c.103T>A
c.6840T>A (p.Ser2280Arg)
c.7458T>A (p.Ser2486Arg)
c.5634T>A (p.Ser1878Arg)
c.5637T>A (p.Ser1879Arg)
n.1712T>A
c.6858T>A (p.Ser2286Arg)
c.6237T>A (p.Ser2079Arg)
c.6957T>A (p.Ser2319Arg)
c.7455T>A (p.Ser2485Arg)
c.5052T>A (p.Ser1684Arg)
2g.237344560_237344562delinsACTCA1337610934COL6A3c.101_103delinsAGT
c.6838_6840delinsAGT (p.Ser2280=)
c.7456_7458delinsAGT (p.Ser2486=)
c.5632_5634delinsAGT (p.Ser1878=)
c.5635_5637delinsAGT (p.Ser1879=)
n.1710_1712delinsAGT
c.6856_6858delinsAGT (p.Ser2286=)
c.6235_6237delinsAGT (p.Ser2079=)
c.6955_6957delinsAGT (p.Ser2319=)
c.7453_7455delinsAGT (p.Ser2485=)
c.5050_5052delinsAGT (p.Ser1684=)
2g.237344561C>ACA351202857COL6A3c.102G>T
c.6839G>T (p.Ser2280Ile)
c.7457G>T (p.Ser2486Ile)
c.5633G>T (p.Ser1878Ile)
c.5636G>T (p.Ser1879Ile)
n.1711G>T
c.6857G>T (p.Ser2286Ile)
c.6236G>T (p.Ser2079Ile)
c.6956G>T (p.Ser2319Ile)
c.7454G>T (p.Ser2485Ile)
c.5051G>T (p.Ser1684Ile)
2g.237344561C>GCA351202860COL6A3c.102G>C
c.6839G>C (p.Ser2280Thr)
c.7457G>C (p.Ser2486Thr)
c.5633G>C (p.Ser1878Thr)
c.5636G>C (p.Ser1879Thr)
n.1711G>C
c.6857G>C (p.Ser2286Thr)
c.6236G>C (p.Ser2079Thr)
c.6956G>C (p.Ser2319Thr)
c.7454G>C (p.Ser2485Thr)
c.5051G>C (p.Ser1684Thr)
 gnomAD v4
2g.237344561C>TCA351202863COL6A3c.102G>A
c.6839G>A (p.Ser2280Asn)
c.7457G>A (p.Ser2486Asn)
c.5633G>A (p.Ser1878Asn)
c.5636G>A (p.Ser1879Asn)
n.1711G>A
c.6857G>A (p.Ser2286Asn)
c.6236G>A (p.Ser2079Asn)
c.6956G>A (p.Ser2319Asn)
c.7454G>A (p.Ser2485Asn)
c.5051G>A (p.Ser1684Asn)
 COSMIC
2g.237344563_237344564delCA2187801COL6A3c.101_102del
c.6838_6839del (p.Leu2281GlyfsTer13)
c.7456_7457del (p.Leu2487GlyfsTer13)
c.5632_5633del (p.Leu1879GlyfsTer13)
c.5635_5636del (p.Leu1880GlyfsTer13)
n.1710_1711del
c.6856_6857del (p.Leu2287GlyfsTer13)
c.6235_6236del (p.Leu2080GlyfsTer13)
c.6955_6956del (p.Leu2320GlyfsTer13)
c.7453_7454del (p.Leu2486GlyfsTer13)
c.5050_5051del (p.Leu1685GlyfsTer13)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344562T>ACA351202869COL6A3c.101A>T
c.6838A>T (p.Ser2280Cys)
c.7456A>T (p.Ser2486Cys)
c.5632A>T (p.Ser1878Cys)
c.5635A>T (p.Ser1879Cys)
n.1710A>T
c.6856A>T (p.Ser2286Cys)
c.6235A>T (p.Ser2079Cys)
c.6955A>T (p.Ser2319Cys)
c.7453A>T (p.Ser2485Cys)
c.5050A>T (p.Ser1684Cys)
2g.237344562T>CCA351202871COL6A3c.101A>G
c.6838A>G (p.Ser2280Gly)
c.7456A>G (p.Ser2486Gly)
c.5632A>G (p.Ser1878Gly)
c.5635A>G (p.Ser1879Gly)
n.1710A>G
c.6856A>G (p.Ser2286Gly)
c.6235A>G (p.Ser2079Gly)
c.6955A>G (p.Ser2319Gly)
c.7453A>G (p.Ser2485Gly)
c.5050A>G (p.Ser1684Gly)
2g.237344562T>GCA351202870COL6A3c.101A>C
c.6838A>C (p.Ser2280Arg)
c.7456A>C (p.Ser2486Arg)
c.5632A>C (p.Ser1878Arg)
c.5635A>C (p.Ser1879Arg)
n.1710A>C
c.6856A>C (p.Ser2286Arg)
c.6235A>C (p.Ser2079Arg)
c.6955A>C (p.Ser2319Arg)
c.7453A>C (p.Ser2485Arg)
c.5050A>C (p.Ser1684Arg)
2g.237344563C>ACA351202872COL6A3c.100G>T
c.6837G>T (p.Gln2279His)
c.7455G>T (p.Gln2485His)
c.5631G>T (p.Gln1877His)
c.5634G>T (p.Gln1878His)
n.1709G>T
c.6855G>T (p.Gln2285His)
c.6234G>T (p.Gln2078His)
c.6954G>T (p.Gln2318His)
c.7452G>T (p.Gln2484His)
c.5049G>T (p.Gln1683His)
2g.237344563C>GCA351202875COL6A3c.100G>C
c.6837G>C (p.Gln2279His)
c.7455G>C (p.Gln2485His)
c.5631G>C (p.Gln1877His)
c.5634G>C (p.Gln1878His)
n.1709G>C
c.6855G>C (p.Gln2285His)
c.6234G>C (p.Gln2078His)
c.6954G>C (p.Gln2318His)
c.7452G>C (p.Gln2484His)
c.5049G>C (p.Gln1683His)
2g.237344563C>TCA431710501COL6A3c.100G>A
c.6837G>A (p.Gln2279=)
c.7455G>A (p.Gln2485=)
c.5631G>A (p.Gln1877=)
c.5634G>A (p.Gln1878=)
n.1709G>A
c.6855G>A (p.Gln2285=)
c.6234G>A (p.Gln2078=)
c.6954G>A (p.Gln2318=)
c.7452G>A (p.Gln2484=)
c.5049G>A (p.Gln1683=)
 gnomAD v4
2g.237344564T>ACA351202878COL6A3c.99A>T
c.6836A>T (p.Gln2279Leu)
c.7454A>T (p.Gln2485Leu)
c.5630A>T (p.Gln1877Leu)
c.5633A>T (p.Gln1878Leu)
n.1708A>T
c.6854A>T (p.Gln2285Leu)
c.6233A>T (p.Gln2078Leu)
c.6953A>T (p.Gln2318Leu)
c.7451A>T (p.Gln2484Leu)
c.5048A>T (p.Gln1683Leu)
2g.237344564T>CCA351202880COL6A3c.99A>G
c.6836A>G (p.Gln2279Arg)
c.7454A>G (p.Gln2485Arg)
c.5630A>G (p.Gln1877Arg)
c.5633A>G (p.Gln1878Arg)
n.1708A>G
c.6854A>G (p.Gln2285Arg)
c.6233A>G (p.Gln2078Arg)
c.6953A>G (p.Gln2318Arg)
c.7451A>G (p.Gln2484Arg)
c.5048A>G (p.Gln1683Arg)
2g.237344564T>GCA351202883COL6A3c.99A>C
c.6836A>C (p.Gln2279Pro)
c.7454A>C (p.Gln2485Pro)
c.5630A>C (p.Gln1877Pro)
c.5633A>C (p.Gln1878Pro)
n.1708A>C
c.6854A>C (p.Gln2285Pro)
c.6233A>C (p.Gln2078Pro)
c.6953A>C (p.Gln2318Pro)
c.7451A>C (p.Gln2484Pro)
c.5048A>C (p.Gln1683Pro)
2g.237344564dupCA2663794689COL6A3c.99dup
c.6836dup (p.Ser2280GlufsTer15)
c.7454dup (p.Ser2486GlufsTer15)
c.5630dup (p.Ser1878GlufsTer15)
c.5633dup (p.Ser1879GlufsTer15)
n.1708dup
c.6854dup (p.Ser2286GlufsTer15)
c.6233dup (p.Ser2079GlufsTer15)
c.6953dup (p.Ser2319GlufsTer15)
c.7451dup (p.Ser2485GlufsTer15)
c.5048dup (p.Ser1684GlufsTer15)
 gnomAD v4
2g.237344565G>ACA351202890COL6A3c.98C>T
c.6835C>T (p.Gln2279Ter)
c.7453C>T (p.Gln2485Ter)
c.5629C>T (p.Gln1877Ter)
c.5632C>T (p.Gln1878Ter)
n.1707C>T
c.6853C>T (p.Gln2285Ter)
c.6232C>T (p.Gln2078Ter)
c.6952C>T (p.Gln2318Ter)
c.7450C>T (p.Gln2484Ter)
c.5047C>T (p.Gln1683Ter)
2g.237344565G>CCA351202892COL6A3c.98C>G
c.6835C>G (p.Gln2279Glu)
c.7453C>G (p.Gln2485Glu)
c.5629C>G (p.Gln1877Glu)
c.5632C>G (p.Gln1878Glu)
n.1707C>G
c.6853C>G (p.Gln2285Glu)
c.6232C>G (p.Gln2078Glu)
c.6952C>G (p.Gln2318Glu)
c.7450C>G (p.Gln2484Glu)
c.5047C>G (p.Gln1683Glu)
2g.237344565G>TCA351202895COL6A3c.98C>A
c.6835C>A (p.Gln2279Lys)
c.7453C>A (p.Gln2485Lys)
c.5629C>A (p.Gln1877Lys)
c.5632C>A (p.Gln1878Lys)
n.1707C>A
c.6853C>A (p.Gln2285Lys)
c.6232C>A (p.Gln2078Lys)
c.6952C>A (p.Gln2318Lys)
c.7450C>A (p.Gln2484Lys)
c.5047C>A (p.Gln1683Lys)
2g.237344566C>ACA351202901COL6A3c.97G>T
c.6834G>T (p.Gln2278His)
c.7452G>T (p.Gln2484His)
c.5628G>T (p.Gln1876His)
c.5631G>T (p.Gln1877His)
n.1706G>T
c.6852G>T (p.Gln2284His)
c.6231G>T (p.Gln2077His)
c.6951G>T (p.Gln2317His)
c.7449G>T (p.Gln2483His)
c.5046G>T (p.Gln1682His)
2g.237344566C>GCA351202903COL6A3c.97G>C
c.6834G>C (p.Gln2278His)
c.7452G>C (p.Gln2484His)
c.5628G>C (p.Gln1876His)
c.5631G>C (p.Gln1877His)
n.1706G>C
c.6852G>C (p.Gln2284His)
c.6231G>C (p.Gln2077His)
c.6951G>C (p.Gln2317His)
c.7449G>C (p.Gln2483His)
c.5046G>C (p.Gln1682His)
2g.237344566C>TCA431710508COL6A3c.97G>A
c.6834G>A (p.Gln2278=)
c.7452G>A (p.Gln2484=)
c.5628G>A (p.Gln1876=)
c.5631G>A (p.Gln1877=)
n.1706G>A
c.6852G>A (p.Gln2284=)
c.6231G>A (p.Gln2077=)
c.6951G>A (p.Gln2317=)
c.7449G>A (p.Gln2483=)
c.5046G>A (p.Gln1682=)
2g.237344567T>ACA351202907COL6A3c.96A>T
c.6833A>T (p.Gln2278Leu)
c.7451A>T (p.Gln2484Leu)
c.5627A>T (p.Gln1876Leu)
c.5630A>T (p.Gln1877Leu)
n.1705A>T
c.6851A>T (p.Gln2284Leu)
c.6230A>T (p.Gln2077Leu)
c.6950A>T (p.Gln2317Leu)
c.7448A>T (p.Gln2483Leu)
c.5045A>T (p.Gln1682Leu)
2g.237344567T>CCA351202909COL6A3c.96A>G
c.6833A>G (p.Gln2278Arg)
c.7451A>G (p.Gln2484Arg)
c.5627A>G (p.Gln1876Arg)
c.5630A>G (p.Gln1877Arg)
n.1705A>G
c.6851A>G (p.Gln2284Arg)
c.6230A>G (p.Gln2077Arg)
c.6950A>G (p.Gln2317Arg)
c.7448A>G (p.Gln2483Arg)
c.5045A>G (p.Gln1682Arg)
2g.237344567T>GCA351202911COL6A3c.96A>C
c.6833A>C (p.Gln2278Pro)
c.7451A>C (p.Gln2484Pro)
c.5627A>C (p.Gln1876Pro)
c.5630A>C (p.Gln1877Pro)
n.1705A>C
c.6851A>C (p.Gln2284Pro)
c.6230A>C (p.Gln2077Pro)
c.6950A>C (p.Gln2317Pro)
c.7448A>C (p.Gln2483Pro)
c.5045A>C (p.Gln1682Pro)
 ClinVar dbSNP
2g.237344567T=CA1337610935COL6A3c.96A=
c.6833A= (p.Gln2278=)
c.7451A= (p.Gln2484=)
c.5627A= (p.Gln1876=)
c.5630A= (p.Gln1877=)
n.1705A=
c.6851A= (p.Gln2284=)
c.6230A= (p.Gln2077=)
c.6950A= (p.Gln2317=)
c.7448A= (p.Gln2483=)
c.5045A= (p.Gln1682=)
2g.237344568G>ACA351202921COL6A3c.95C>T
c.6832C>T (p.Gln2278Ter)
c.7450C>T (p.Gln2484Ter)
c.5626C>T (p.Gln1876Ter)
c.5629C>T (p.Gln1877Ter)
n.1704C>T
c.6850C>T (p.Gln2284Ter)
c.6229C>T (p.Gln2077Ter)
c.6949C>T (p.Gln2317Ter)
c.7447C>T (p.Gln2483Ter)
c.5044C>T (p.Gln1682Ter)
2g.237344568G>CCA351202916COL6A3c.95C>G
c.6832C>G (p.Gln2278Glu)
c.7450C>G (p.Gln2484Glu)
c.5626C>G (p.Gln1876Glu)
c.5629C>G (p.Gln1877Glu)
n.1704C>G
c.6850C>G (p.Gln2284Glu)
c.6229C>G (p.Gln2077Glu)
c.6949C>G (p.Gln2317Glu)
c.7447C>G (p.Gln2483Glu)
c.5044C>G (p.Gln1682Glu)
2g.237344568G>TCA351202919COL6A3c.95C>A
c.6832C>A (p.Gln2278Lys)
c.7450C>A (p.Gln2484Lys)
c.5626C>A (p.Gln1876Lys)
c.5629C>A (p.Gln1877Lys)
n.1704C>A
c.6850C>A (p.Gln2284Lys)
c.6229C>A (p.Gln2077Lys)
c.6949C>A (p.Gln2317Lys)
c.7447C>A (p.Gln2483Lys)
c.5044C>A (p.Gln1682Lys)
2g.237344569T>ACA351202926COL6A3c.94A>T
c.6831A>T (p.Lys2277Asn)
c.7449A>T (p.Lys2483Asn)
c.5625A>T (p.Lys1875Asn)
c.5628A>T (p.Lys1876Asn)
n.1703A>T
c.6849A>T (p.Lys2283Asn)
c.6228A>T (p.Lys2076Asn)
c.6948A>T (p.Lys2316Asn)
c.7446A>T (p.Lys2482Asn)
c.5043A>T (p.Lys1681Asn)
2g.237344569T>CCA431710513COL6A3c.94A>G
c.6831A>G (p.Lys2277=)
c.7449A>G (p.Lys2483=)
c.5625A>G (p.Lys1875=)
c.5628A>G (p.Lys1876=)
n.1703A>G
c.6849A>G (p.Lys2283=)
c.6228A>G (p.Lys2076=)
c.6948A>G (p.Lys2316=)
c.7446A>G (p.Lys2482=)
c.5043A>G (p.Lys1681=)
2g.237344569T>GCA351202929COL6A3c.94A>C
c.6831A>C (p.Lys2277Asn)
c.7449A>C (p.Lys2483Asn)
c.5625A>C (p.Lys1875Asn)
c.5628A>C (p.Lys1876Asn)
n.1703A>C
c.6849A>C (p.Lys2283Asn)
c.6228A>C (p.Lys2076Asn)
c.6948A>C (p.Lys2316Asn)
c.7446A>C (p.Lys2482Asn)
c.5043A>C (p.Lys1681Asn)
2g.237344570T>ACA351202931COL6A3c.93A>T
c.6830A>T (p.Lys2277Ile)
c.7448A>T (p.Lys2483Ile)
c.5624A>T (p.Lys1875Ile)
c.5627A>T (p.Lys1876Ile)
n.1702A>T
c.6848A>T (p.Lys2283Ile)
c.6227A>T (p.Lys2076Ile)
c.6947A>T (p.Lys2316Ile)
c.7445A>T (p.Lys2482Ile)
c.5042A>T (p.Lys1681Ile)
2g.237344570T>CCA351202934COL6A3c.93A>G
c.6830A>G (p.Lys2277Arg)
c.7448A>G (p.Lys2483Arg)
c.5624A>G (p.Lys1875Arg)
c.5627A>G (p.Lys1876Arg)
n.1702A>G
c.6848A>G (p.Lys2283Arg)
c.6227A>G (p.Lys2076Arg)
c.6947A>G (p.Lys2316Arg)
c.7445A>G (p.Lys2482Arg)
c.5042A>G (p.Lys1681Arg)
 gnomAD v4
2g.237344570T>GCA351202942COL6A3c.93A>C
c.6830A>C (p.Lys2277Thr)
c.7448A>C (p.Lys2483Thr)
c.5624A>C (p.Lys1875Thr)
c.5627A>C (p.Lys1876Thr)
n.1702A>C
c.6848A>C (p.Lys2283Thr)
c.6227A>C (p.Lys2076Thr)
c.6947A>C (p.Lys2316Thr)
c.7445A>C (p.Lys2482Thr)
c.5042A>C (p.Lys1681Thr)
 gnomAD v4
2g.237344571T>ACA351202944COL6A3c.92A>T
c.6829A>T (p.Lys2277Ter)
c.7447A>T (p.Lys2483Ter)
c.5623A>T (p.Lys1875Ter)
c.5626A>T (p.Lys1876Ter)
n.1701A>T
c.6847A>T (p.Lys2283Ter)
c.6226A>T (p.Lys2076Ter)
c.6946A>T (p.Lys2316Ter)
c.7444A>T (p.Lys2482Ter)
c.5041A>T (p.Lys1681Ter)
2g.237344571T>CCA244831COL6A3c.92A>G
c.6829A>G (p.Lys2277Glu)
c.7447A>G (p.Lys2483Glu)
c.5623A>G (p.Lys1875Glu)
c.5626A>G (p.Lys1876Glu)
n.1701A>G
c.6847A>G (p.Lys2283Glu)
c.6226A>G (p.Lys2076Glu)
c.6946A>G (p.Lys2316Glu)
c.7444A>G (p.Lys2482Glu)
c.5041A>G (p.Lys1681Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344571T>GCA351202948COL6A3c.92A>C
c.6829A>C (p.Lys2277Gln)
c.7447A>C (p.Lys2483Gln)
c.5623A>C (p.Lys1875Gln)
c.5626A>C (p.Lys1876Gln)
n.1701A>C
c.6847A>C (p.Lys2283Gln)
c.6226A>C (p.Lys2076Gln)
c.6946A>C (p.Lys2316Gln)
c.7444A>C (p.Lys2482Gln)
c.5041A>C (p.Lys1681Gln)
2g.237344571T=CA1337610936COL6A3c.92A=
c.6829A= (p.Lys2277=)
c.7447A= (p.Lys2483=)
c.5623A= (p.Lys1875=)
c.5626A= (p.Lys1876=)
n.1701A=
c.6847A= (p.Lys2283=)
c.6226A= (p.Lys2076=)
c.6946A= (p.Lys2316=)
c.7444A= (p.Lys2482=)
c.5041A= (p.Lys1681=)
2g.237344572G>ACA431710517COL6A3c.91C>T
c.6828C>T (p.Ser2276=)
c.7446C>T (p.Ser2482=)
c.5622C>T (p.Ser1874=)
c.5625C>T (p.Ser1875=)
n.1700C>T
c.6846C>T (p.Ser2282=)
c.6225C>T (p.Ser2075=)
c.6945C>T (p.Ser2315=)
c.7443C>T (p.Ser2481=)
c.5040C>T (p.Ser1680=)
 ClinVar dbSNP
2g.237344572G>CCA431710520COL6A3c.91C>G
c.6828C>G (p.Ser2276=)
c.7446C>G (p.Ser2482=)
c.5622C>G (p.Ser1874=)
c.5625C>G (p.Ser1875=)
n.1700C>G
c.6846C>G (p.Ser2282=)
c.6225C>G (p.Ser2075=)
c.6945C>G (p.Ser2315=)
c.7443C>G (p.Ser2481=)
c.5040C>G (p.Ser1680=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237344572G=CA1337610937COL6A3c.91C=
c.6828C= (p.Ser2276=)
c.7446C= (p.Ser2482=)
c.5622C= (p.Ser1874=)
c.5625C= (p.Ser1875=)
n.1700C=
c.6846C= (p.Ser2282=)
c.6225C= (p.Ser2075=)
c.6945C= (p.Ser2315=)
c.7443C= (p.Ser2481=)
c.5040C= (p.Ser1680=)
2g.237344572G>TCA431710522COL6A3c.91C>A
c.6828C>A (p.Ser2276=)
c.7446C>A (p.Ser2482=)
c.5622C>A (p.Ser1874=)
c.5625C>A (p.Ser1875=)
n.1700C>A
c.6846C>A (p.Ser2282=)
c.6225C>A (p.Ser2075=)
c.6945C>A (p.Ser2315=)
c.7443C>A (p.Ser2481=)
c.5040C>A (p.Ser1680=)
2g.237344573G>ACA351202951COL6A3c.90C>T
c.6827C>T (p.Ser2276Phe)
c.7445C>T (p.Ser2482Phe)
c.5621C>T (p.Ser1874Phe)
c.5624C>T (p.Ser1875Phe)
n.1699C>T
c.6845C>T (p.Ser2282Phe)
c.6224C>T (p.Ser2075Phe)
c.6944C>T (p.Ser2315Phe)
c.7442C>T (p.Ser2481Phe)
c.5039C>T (p.Ser1680Phe)
 COSMIC
2g.237344573G>CCA351202954COL6A3c.90C>G
c.6827C>G (p.Ser2276Cys)
c.7445C>G (p.Ser2482Cys)
c.5621C>G (p.Ser1874Cys)
c.5624C>G (p.Ser1875Cys)
n.1699C>G
c.6845C>G (p.Ser2282Cys)
c.6224C>G (p.Ser2075Cys)
c.6944C>G (p.Ser2315Cys)
c.7442C>G (p.Ser2481Cys)
c.5039C>G (p.Ser1680Cys)
2g.237344573G>TCA351202955COL6A3c.90C>A
c.6827C>A (p.Ser2276Tyr)
c.7445C>A (p.Ser2482Tyr)
c.5621C>A (p.Ser1874Tyr)
c.5624C>A (p.Ser1875Tyr)
n.1699C>A
c.6845C>A (p.Ser2282Tyr)
c.6224C>A (p.Ser2075Tyr)
c.6944C>A (p.Ser2315Tyr)
c.7442C>A (p.Ser2481Tyr)
c.5039C>A (p.Ser1680Tyr)
2g.237344574A>CCA351202958COL6A3c.89T>G
c.6826T>G (p.Ser2276Ala)
c.7444T>G (p.Ser2482Ala)
c.5620T>G (p.Ser1874Ala)
c.5623T>G (p.Ser1875Ala)
n.1698T>G
c.6844T>G (p.Ser2282Ala)
c.6223T>G (p.Ser2075Ala)
c.6943T>G (p.Ser2315Ala)
c.7441T>G (p.Ser2481Ala)
c.5038T>G (p.Ser1680Ala)
2g.237344574A>GCA351202959COL6A3c.89T>C
c.6826T>C (p.Ser2276Pro)
c.7444T>C (p.Ser2482Pro)
c.5620T>C (p.Ser1874Pro)
c.5623T>C (p.Ser1875Pro)
n.1698T>C
c.6844T>C (p.Ser2282Pro)
c.6223T>C (p.Ser2075Pro)
c.6943T>C (p.Ser2315Pro)
c.7441T>C (p.Ser2481Pro)
c.5038T>C (p.Ser1680Pro)
2g.237344574A>TCA351202956COL6A3c.89T>A
c.6826T>A (p.Ser2276Thr)
c.7444T>A (p.Ser2482Thr)
c.5620T>A (p.Ser1874Thr)
c.5623T>A (p.Ser1875Thr)
n.1698T>A
c.6844T>A (p.Ser2282Thr)
c.6223T>A (p.Ser2075Thr)
c.6943T>A (p.Ser2315Thr)
c.7441T>A (p.Ser2481Thr)
c.5038T>A (p.Ser1680Thr)
2g.237344575T>ACA431710524COL6A3c.88A>T
c.6825A>T (p.Thr2275=)
c.7443A>T (p.Thr2481=)
c.5619A>T (p.Thr1873=)
c.5622A>T (p.Thr1874=)
n.1697A>T
c.6843A>T (p.Thr2281=)
c.6222A>T (p.Thr2074=)
c.6942A>T (p.Thr2314=)
c.7440A>T (p.Thr2480=)
c.5037A>T (p.Thr1679=)
2g.237344575T>CCA431710527COL6A3c.88A>G
c.6825A>G (p.Thr2275=)
c.7443A>G (p.Thr2481=)
c.5619A>G (p.Thr1873=)
c.5622A>G (p.Thr1874=)
n.1697A>G
c.6843A>G (p.Thr2281=)
c.6222A>G (p.Thr2074=)
c.6942A>G (p.Thr2314=)
c.7440A>G (p.Thr2480=)
c.5037A>G (p.Thr1679=)
2g.237344575T>GCA431710525COL6A3c.88A>C
c.6825A>C (p.Thr2275=)
c.7443A>C (p.Thr2481=)
c.5619A>C (p.Thr1873=)
c.5622A>C (p.Thr1874=)
n.1697A>C
c.6843A>C (p.Thr2281=)
c.6222A>C (p.Thr2074=)
c.6942A>C (p.Thr2314=)
c.7440A>C (p.Thr2480=)
c.5037A>C (p.Thr1679=)
2g.237344576G>ACA351202961COL6A3c.87C>T
c.6824C>T (p.Thr2275Ile)
c.7442C>T (p.Thr2481Ile)
c.5618C>T (p.Thr1873Ile)
c.5621C>T (p.Thr1874Ile)
n.1696C>T
c.6842C>T (p.Thr2281Ile)
c.6221C>T (p.Thr2074Ile)
c.6941C>T (p.Thr2314Ile)
c.7439C>T (p.Thr2480Ile)
c.5036C>T (p.Thr1679Ile)
2g.237344576G>CCA351202964COL6A3c.87C>G
c.6824C>G (p.Thr2275Arg)
c.7442C>G (p.Thr2481Arg)
c.5618C>G (p.Thr1873Arg)
c.5621C>G (p.Thr1874Arg)
n.1696C>G
c.6842C>G (p.Thr2281Arg)
c.6221C>G (p.Thr2074Arg)
c.6941C>G (p.Thr2314Arg)
c.7439C>G (p.Thr2480Arg)
c.5036C>G (p.Thr1679Arg)
2g.237344576G>TCA351202967COL6A3c.87C>A
c.6824C>A (p.Thr2275Lys)
c.7442C>A (p.Thr2481Lys)
c.5618C>A (p.Thr1873Lys)
c.5621C>A (p.Thr1874Lys)
n.1696C>A
c.6842C>A (p.Thr2281Lys)
c.6221C>A (p.Thr2074Lys)
c.6941C>A (p.Thr2314Lys)
c.7439C>A (p.Thr2480Lys)
c.5036C>A (p.Thr1679Lys)
2g.237344577T>ACA351202971COL6A3c.86A>T
c.6823A>T (p.Thr2275Ser)
c.7441A>T (p.Thr2481Ser)
c.5617A>T (p.Thr1873Ser)
c.5620A>T (p.Thr1874Ser)
n.1695A>T
c.6841A>T (p.Thr2281Ser)
c.6220A>T (p.Thr2074Ser)
c.6940A>T (p.Thr2314Ser)
c.7438A>T (p.Thr2480Ser)
c.5035A>T (p.Thr1679Ser)
2g.237344577T>CCA244844COL6A3c.86A>G
c.6823A>G (p.Thr2275Ala)
c.7441A>G (p.Thr2481Ala)
c.5617A>G (p.Thr1873Ala)
c.5620A>G (p.Thr1874Ala)
n.1695A>G
c.6841A>G (p.Thr2281Ala)
c.6220A>G (p.Thr2074Ala)
c.6940A>G (p.Thr2314Ala)
c.7438A>G (p.Thr2480Ala)
c.5035A>G (p.Thr1679Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237344577T>GCA351202975COL6A3c.86A>C
c.6823A>C (p.Thr2275Pro)
c.7441A>C (p.Thr2481Pro)
c.5617A>C (p.Thr1873Pro)
c.5620A>C (p.Thr1874Pro)
n.1695A>C
c.6841A>C (p.Thr2281Pro)
c.6220A>C (p.Thr2074Pro)
c.6940A>C (p.Thr2314Pro)
c.7438A>C (p.Thr2480Pro)
c.5035A>C (p.Thr1679Pro)
2g.237344577T=CA1337610938COL6A3c.86A=
c.6823A= (p.Thr2275=)
c.7441A= (p.Thr2481=)
c.5617A= (p.Thr1873=)
c.5620A= (p.Thr1874=)
n.1695A=
c.6841A= (p.Thr2281=)
c.6220A= (p.Thr2074=)
c.6940A= (p.Thr2314=)
c.7438A= (p.Thr2480=)
c.5035A= (p.Thr1679=)
2g.237344578C>ACA431710533COL6A3c.85G>T
c.6822G>T (p.Leu2274=)
c.7440G>T (p.Leu2480=)
c.5616G>T (p.Leu1872=)
c.5619G>T (p.Leu1873=)
n.1694G>T
c.6840G>T (p.Leu2280=)
c.6219G>T (p.Leu2073=)
c.6939G>T (p.Leu2313=)
c.7437G>T (p.Leu2479=)
c.5034G>T (p.Leu1678=)
2g.237344578C>GCA431710531COL6A3c.85G>C
c.6822G>C (p.Leu2274=)
c.7440G>C (p.Leu2480=)
c.5616G>C (p.Leu1872=)
c.5619G>C (p.Leu1873=)
n.1694G>C
c.6840G>C (p.Leu2280=)
c.6219G>C (p.Leu2073=)
c.6939G>C (p.Leu2313=)
c.7437G>C (p.Leu2479=)
c.5034G>C (p.Leu1678=)
2g.237344578C>TCA431710532COL6A3c.85G>A
c.6822G>A (p.Leu2274=)
c.7440G>A (p.Leu2480=)
c.5616G>A (p.Leu1872=)
c.5619G>A (p.Leu1873=)
n.1694G>A
c.6840G>A (p.Leu2280=)
c.6219G>A (p.Leu2073=)
c.6939G>A (p.Leu2313=)
c.7437G>A (p.Leu2479=)
c.5034G>A (p.Leu1678=)
 ClinVar
2g.237344579A>CCA351202978COL6A3c.84T>G
c.6821T>G (p.Leu2274Arg)
c.7439T>G (p.Leu2480Arg)
c.5615T>G (p.Leu1872Arg)
c.5618T>G (p.Leu1873Arg)
n.1693T>G
c.6839T>G (p.Leu2280Arg)
c.6218T>G (p.Leu2073Arg)
c.6938T>G (p.Leu2313Arg)
c.7436T>G (p.Leu2479Arg)
c.5033T>G (p.Leu1678Arg)
2g.237344579A>GCA351202979COL6A3c.84T>C
c.6821T>C (p.Leu2274Pro)
c.7439T>C (p.Leu2480Pro)
c.5615T>C (p.Leu1872Pro)
c.5618T>C (p.Leu1873Pro)
n.1693T>C
c.6839T>C (p.Leu2280Pro)
c.6218T>C (p.Leu2073Pro)
c.6938T>C (p.Leu2313Pro)
c.7436T>C (p.Leu2479Pro)
c.5033T>C (p.Leu1678Pro)
2g.237344579A>TCA351202980COL6A3c.84T>A
c.6821T>A (p.Leu2274Gln)
c.7439T>A (p.Leu2480Gln)
c.5615T>A (p.Leu1872Gln)
c.5618T>A (p.Leu1873Gln)
n.1693T>A
c.6839T>A (p.Leu2280Gln)
c.6218T>A (p.Leu2073Gln)
c.6938T>A (p.Leu2313Gln)
c.7436T>A (p.Leu2479Gln)
c.5033T>A (p.Leu1678Gln)
2g.237344580G>ACA2187802COL6A3c.83C>T
c.6820C>T (p.Leu2274=)
c.7438C>T (p.Leu2480=)
c.5614C>T (p.Leu1872=)
c.5617C>T (p.Leu1873=)
n.1692C>T
c.6838C>T (p.Leu2280=)
c.6217C>T (p.Leu2073=)
c.6937C>T (p.Leu2313=)
c.7435C>T (p.Leu2479=)
c.5032C>T (p.Leu1678=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237344580G>CCA351202982COL6A3c.83C>G
c.6820C>G (p.Leu2274Val)
c.7438C>G (p.Leu2480Val)
c.5614C>G (p.Leu1872Val)
c.5617C>G (p.Leu1873Val)
n.1692C>G
c.6838C>G (p.Leu2280Val)
c.6217C>G (p.Leu2073Val)
c.6937C>G (p.Leu2313Val)
c.7435C>G (p.Leu2479Val)
c.5032C>G (p.Leu1678Val)
2g.237344580G=CA1337610939COL6A3c.83C=
c.6820C= (p.Leu2274=)
c.7438C= (p.Leu2480=)
c.5614C= (p.Leu1872=)
c.5617C= (p.Leu1873=)
n.1692C=
c.6838C= (p.Leu2280=)
c.6217C= (p.Leu2073=)
c.6937C= (p.Leu2313=)
c.7435C= (p.Leu2479=)
c.5032C= (p.Leu1678=)
2g.237344580G>TCA351202983COL6A3c.83C>A
c.6820C>A (p.Leu2274Met)
c.7438C>A (p.Leu2480Met)
c.5614C>A (p.Leu1872Met)
c.5617C>A (p.Leu1873Met)
n.1692C>A
c.6838C>A (p.Leu2280Met)
c.6217C>A (p.Leu2073Met)
c.6937C>A (p.Leu2313Met)
c.7435C>A (p.Leu2479Met)
c.5032C>A (p.Leu1678Met)
2g.237344581A>CCA431710537COL6A3c.82T>G
c.6819T>G (p.Ala2273=)
c.7437T>G (p.Ala2479=)
c.5613T>G (p.Ala1871=)
c.5616T>G (p.Ala1872=)
n.1691T>G
c.6837T>G (p.Ala2279=)
c.6216T>G (p.Ala2072=)
c.6936T>G (p.Ala2312=)
c.7434T>G (p.Ala2478=)
c.5031T>G (p.Ala1677=)
2g.237344581A>GCA431710538COL6A3c.82T>C
c.6819T>C (p.Ala2273=)
c.7437T>C (p.Ala2479=)
c.5613T>C (p.Ala1871=)
c.5616T>C (p.Ala1872=)
n.1691T>C
c.6837T>C (p.Ala2279=)
c.6216T>C (p.Ala2072=)
c.6936T>C (p.Ala2312=)
c.7434T>C (p.Ala2478=)
c.5031T>C (p.Ala1677=)
 dbSNP
2g.237344581A>TCA431710540COL6A3c.82T>A
c.6819T>A (p.Ala2273=)
c.7437T>A (p.Ala2479=)
c.5613T>A (p.Ala1871=)
c.5616T>A (p.Ala1872=)
n.1691T>A
c.6837T>A (p.Ala2279=)
c.6216T>A (p.Ala2072=)
c.6936T>A (p.Ala2312=)
c.7434T>A (p.Ala2478=)
c.5031T>A (p.Ala1677=)
2g.237344582G>ACA351202994COL6A3c.81C>T
c.6818C>T (p.Ala2273Val)
c.7436C>T (p.Ala2479Val)
c.5612C>T (p.Ala1871Val)
c.5615C>T (p.Ala1872Val)
n.1690C>T
c.6836C>T (p.Ala2279Val)
c.6215C>T (p.Ala2072Val)
c.6935C>T (p.Ala2312Val)
c.7433C>T (p.Ala2478Val)
c.5030C>T (p.Ala1677Val)
 dbSNP gnomAD v2
2g.237344582G>CCA351202989COL6A3c.81C>G
c.6818C>G (p.Ala2273Gly)
c.7436C>G (p.Ala2479Gly)
c.5612C>G (p.Ala1871Gly)
c.5615C>G (p.Ala1872Gly)
n.1690C>G
c.6836C>G (p.Ala2279Gly)
c.6215C>G (p.Ala2072Gly)
c.6935C>G (p.Ala2312Gly)
c.7433C>G (p.Ala2478Gly)
c.5030C>G (p.Ala1677Gly)
2g.237344582G=CA1337610940COL6A3c.81C=
c.6818C= (p.Ala2273=)
c.7436C= (p.Ala2479=)
c.5612C= (p.Ala1871=)
c.5615C= (p.Ala1872=)
n.1690C=
c.6836C= (p.Ala2279=)
c.6215C= (p.Ala2072=)
c.6935C= (p.Ala2312=)
c.7433C= (p.Ala2478=)
c.5030C= (p.Ala1677=)
2g.237344582G>TCA351202992COL6A3c.81C>A
c.6818C>A (p.Ala2273Asp)
c.7436C>A (p.Ala2479Asp)
c.5612C>A (p.Ala1871Asp)
c.5615C>A (p.Ala1872Asp)
n.1690C>A
c.6836C>A (p.Ala2279Asp)
c.6215C>A (p.Ala2072Asp)
c.6935C>A (p.Ala2312Asp)
c.7433C>A (p.Ala2478Asp)
c.5030C>A (p.Ala1677Asp)
2g.237344583C>ACA351202996COL6A3c.80G>T
c.6817G>T (p.Ala2273Ser)
c.7435G>T (p.Ala2479Ser)
c.5611G>T (p.Ala1871Ser)
c.5614G>T (p.Ala1872Ser)
n.1689G>T
c.6835G>T (p.Ala2279Ser)
c.6214G>T (p.Ala2072Ser)
c.6934G>T (p.Ala2312Ser)
c.7432G>T (p.Ala2478Ser)
c.5029G>T (p.Ala1677Ser)
 gnomAD v4
2g.237344583C=CA1337610941COL6A3c.80G=
c.6817G= (p.Ala2273=)
c.7435G= (p.Ala2479=)
c.5611G= (p.Ala1871=)
c.5614G= (p.Ala1872=)
n.1689G=
c.6835G= (p.Ala2279=)
c.6214G= (p.Ala2072=)
c.6934G= (p.Ala2312=)
c.7432G= (p.Ala2478=)
c.5029G= (p.Ala1677=)
2g.237344583C>GCA351203000COL6A3c.80G>C
c.6817G>C (p.Ala2273Pro)
c.7435G>C (p.Ala2479Pro)
c.5611G>C (p.Ala1871Pro)
c.5614G>C (p.Ala1872Pro)
n.1689G>C
c.6835G>C (p.Ala2279Pro)
c.6214G>C (p.Ala2072Pro)
c.6934G>C (p.Ala2312Pro)
c.7432G>C (p.Ala2478Pro)
c.5029G>C (p.Ala1677Pro)
2g.237344583C>TCA351203003COL6A3c.80G>A
c.6817G>A (p.Ala2273Thr)
c.7435G>A (p.Ala2479Thr)
c.5611G>A (p.Ala1871Thr)
c.5614G>A (p.Ala1872Thr)
n.1689G>A
c.6835G>A (p.Ala2279Thr)
c.6214G>A (p.Ala2072Thr)
c.6934G>A (p.Ala2312Thr)
c.7432G>A (p.Ala2478Thr)
c.5029G>A (p.Ala1677Thr)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched