Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.237340523A=	CA1337608526	COL6A3	c.1038T= c.7775T= (p.Val2592=) c.396T= n.660T= c.8393T= (p.Val2798=) c.6569T= (p.Val2190=) n.80T= c.6572T= (p.Val2191=) n.4835T= c.7793T= (p.Val2598=) c.7172T= (p.Val2391=) c.7892T= (p.Val2631=) c.8390T= (p.Val2797=) c.5987T= (p.Val1996=)
2	g.237340523A>C	CA351194794	COL6A3	c.1038T>G c.7775T>G (p.Val2592Gly) c.396T>G n.660T>G c.8393T>G (p.Val2798Gly) c.6569T>G (p.Val2190Gly) n.80T>G c.6572T>G (p.Val2191Gly) n.4835T>G c.7793T>G (p.Val2598Gly) c.7172T>G (p.Val2391Gly) c.7892T>G (p.Val2631Gly) c.8390T>G (p.Val2797Gly) c.5987T>G (p.Val1996Gly)
2	g.237340523A>G	CA2187562	COL6A3	c.1038T>C c.7775T>C (p.Val2592Ala) c.396T>C n.660T>C c.8393T>C (p.Val2798Ala) c.6569T>C (p.Val2190Ala) n.80T>C c.6572T>C (p.Val2191Ala) n.4835T>C c.7793T>C (p.Val2598Ala) c.7172T>C (p.Val2391Ala) c.7892T>C (p.Val2631Ala) c.8390T>C (p.Val2797Ala) c.5987T>C (p.Val1996Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340523A>T	CA351194795	COL6A3	c.1038T>A c.7775T>A (p.Val2592Glu) c.396T>A n.660T>A c.8393T>A (p.Val2798Glu) c.6569T>A (p.Val2190Glu) n.80T>A c.6572T>A (p.Val2191Glu) n.4835T>A c.7793T>A (p.Val2598Glu) c.7172T>A (p.Val2391Glu) c.7892T>A (p.Val2631Glu) c.8390T>A (p.Val2797Glu) c.5987T>A (p.Val1996Glu)
2	g.237340524C>A	CA351194798	COL6A3	c.1037G>T c.7774G>T (p.Val2592Leu) c.395G>T n.659G>T c.8392G>T (p.Val2798Leu) c.6568G>T (p.Val2190Leu) n.79G>T c.6571G>T (p.Val2191Leu) n.4834G>T c.7792G>T (p.Val2598Leu) c.7171G>T (p.Val2391Leu) c.7891G>T (p.Val2631Leu) c.8389G>T (p.Val2797Leu) c.5986G>T (p.Val1996Leu)
2	g.237340524C>G	CA351194800	COL6A3	c.1037G>C c.7774G>C (p.Val2592Leu) c.395G>C n.659G>C c.8392G>C (p.Val2798Leu) c.6568G>C (p.Val2190Leu) n.79G>C c.6571G>C (p.Val2191Leu) n.4834G>C c.7792G>C (p.Val2598Leu) c.7171G>C (p.Val2391Leu) c.7891G>C (p.Val2631Leu) c.8389G>C (p.Val2797Leu) c.5986G>C (p.Val1996Leu)
2	g.237340524C>T	CA351194803	COL6A3	c.1037G>A c.7774G>A (p.Val2592Met) c.395G>A n.659G>A c.8392G>A (p.Val2798Met) c.6568G>A (p.Val2190Met) n.79G>A c.6571G>A (p.Val2191Met) n.4834G>A c.7792G>A (p.Val2598Met) c.7171G>A (p.Val2391Met) c.7891G>A (p.Val2631Met) c.8389G>A (p.Val2797Met) c.5986G>A (p.Val1996Met)
2	g.237340525T>A	CA351194806	COL6A3	c.1036A>T c.7773A>T (p.Leu2591Phe) c.394A>T n.658A>T c.8391A>T (p.Leu2797Phe) c.6567A>T (p.Leu2189Phe) n.78A>T c.6570A>T (p.Leu2190Phe) n.4833A>T c.7791A>T (p.Leu2597Phe) c.7170A>T (p.Leu2390Phe) c.7890A>T (p.Leu2630Phe) c.8388A>T (p.Leu2796Phe) c.5985A>T (p.Leu1995Phe)
2	g.237340525T>C	CA431675129	COL6A3	c.1036A>G c.7773A>G (p.Leu2591=) c.394A>G n.658A>G c.8391A>G (p.Leu2797=) c.6567A>G (p.Leu2189=) n.78A>G c.6570A>G (p.Leu2190=) n.4833A>G c.7791A>G (p.Leu2597=) c.7170A>G (p.Leu2390=) c.7890A>G (p.Leu2630=) c.8388A>G (p.Leu2796=) c.5985A>G (p.Leu1995=)	dbSNP gnomAD v4
2	g.237340525T>G	CA351194807	COL6A3	c.1036A>C c.7773A>C (p.Leu2591Phe) c.394A>C n.658A>C c.8391A>C (p.Leu2797Phe) c.6567A>C (p.Leu2189Phe) n.78A>C c.6570A>C (p.Leu2190Phe) n.4833A>C c.7791A>C (p.Leu2597Phe) c.7170A>C (p.Leu2390Phe) c.7890A>C (p.Leu2630Phe) c.8388A>C (p.Leu2796Phe) c.5985A>C (p.Leu1995Phe)
2	g.237340525T=	CA1337608531	COL6A3	c.1036A= c.7773A= (p.Leu2591=) c.394A= n.658A= c.8391A= (p.Leu2797=) c.6567A= (p.Leu2189=) n.78A= c.6570A= (p.Leu2190=) n.4833A= c.7791A= (p.Leu2597=) c.7170A= (p.Leu2390=) c.7890A= (p.Leu2630=) c.8388A= (p.Leu2796=) c.5985A= (p.Leu1995=)
2	g.237340526A=	CA1337608533	COL6A3	c.1035T= c.7772T= (p.Leu2591=) c.393T= n.657T= c.8390T= (p.Leu2797=) c.6566T= (p.Leu2189=) n.77T= c.6569T= (p.Leu2190=) n.4832T= c.7790T= (p.Leu2597=) c.7169T= (p.Leu2390=) c.7889T= (p.Leu2630=) c.8387T= (p.Leu2796=) c.5984T= (p.Leu1995=)
2	g.237340526A>C	CA351194810	COL6A3	c.1035T>G c.7772T>G (p.Leu2591Ter) c.393T>G n.657T>G c.8390T>G (p.Leu2797Ter) c.6566T>G (p.Leu2189Ter) n.77T>G c.6569T>G (p.Leu2190Ter) n.4832T>G c.7790T>G (p.Leu2597Ter) c.7169T>G (p.Leu2390Ter) c.7889T>G (p.Leu2630Ter) c.8387T>G (p.Leu2796Ter) c.5984T>G (p.Leu1995Ter)
2	g.237340526A>G	CA351194817	COL6A3	c.1035T>C c.7772T>C (p.Leu2591Ser) c.393T>C n.657T>C c.8390T>C (p.Leu2797Ser) c.6566T>C (p.Leu2189Ser) n.77T>C c.6569T>C (p.Leu2190Ser) n.4832T>C c.7790T>C (p.Leu2597Ser) c.7169T>C (p.Leu2390Ser) c.7889T>C (p.Leu2630Ser) c.8387T>C (p.Leu2796Ser) c.5984T>C (p.Leu1995Ser)	dbSNP
2	g.237340526A>T	CA351194818	COL6A3	c.1035T>A c.7772T>A (p.Leu2591Ter) c.393T>A n.657T>A c.8390T>A (p.Leu2797Ter) c.6566T>A (p.Leu2189Ter) n.77T>A c.6569T>A (p.Leu2190Ter) n.4832T>A c.7790T>A (p.Leu2597Ter) c.7169T>A (p.Leu2390Ter) c.7889T>A (p.Leu2630Ter) c.8387T>A (p.Leu2796Ter) c.5984T>A (p.Leu1995Ter)
2	g.237340527A=	CA1337608537	COL6A3	c.1034T= c.7771T= (p.Leu2591=) c.392T= n.656T= c.8389T= (p.Leu2797=) c.6565T= (p.Leu2189=) n.76T= c.6568T= (p.Leu2190=) n.4831T= c.7789T= (p.Leu2597=) c.7168T= (p.Leu2390=) c.7888T= (p.Leu2630=) c.8386T= (p.Leu2796=) c.5983T= (p.Leu1995=)
2	g.237340527A>C	CA351194825	COL6A3	c.1034T>G c.7771T>G (p.Leu2591Val) c.392T>G n.656T>G c.8389T>G (p.Leu2797Val) c.6565T>G (p.Leu2189Val) n.76T>G c.6568T>G (p.Leu2190Val) n.4831T>G c.7789T>G (p.Leu2597Val) c.7168T>G (p.Leu2390Val) c.7888T>G (p.Leu2630Val) c.8386T>G (p.Leu2796Val) c.5983T>G (p.Leu1995Val)
2	g.237340527A>G	CA2187563	COL6A3	c.1034T>C c.7771T>C (p.Leu2591=) c.392T>C n.656T>C c.8389T>C (p.Leu2797=) c.6565T>C (p.Leu2189=) n.76T>C c.6568T>C (p.Leu2190=) n.4831T>C c.7789T>C (p.Leu2597=) c.7168T>C (p.Leu2390=) c.7888T>C (p.Leu2630=) c.8386T>C (p.Leu2796=) c.5983T>C (p.Leu1995=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340527A>T	CA351194821	COL6A3	c.1034T>A c.7771T>A (p.Leu2591Ile) c.392T>A n.656T>A c.8389T>A (p.Leu2797Ile) c.6565T>A (p.Leu2189Ile) n.76T>A c.6568T>A (p.Leu2190Ile) n.4831T>A c.7789T>A (p.Leu2597Ile) c.7168T>A (p.Leu2390Ile) c.7888T>A (p.Leu2630Ile) c.8386T>A (p.Leu2796Ile) c.5983T>A (p.Leu1995Ile)
2	g.237340528T>A	CA351194826	COL6A3	c.1033A>T c.7770A>T (p.Lys2590Asn) c.391A>T n.655A>T c.8388A>T (p.Lys2796Asn) c.6564A>T (p.Lys2188Asn) n.75A>T c.6567A>T (p.Lys2189Asn) n.4830A>T c.7788A>T (p.Lys2596Asn) c.7167A>T (p.Lys2389Asn) c.7887A>T (p.Lys2629Asn) c.8385A>T (p.Lys2795Asn) c.5982A>T (p.Lys1994Asn)
2	g.237340528T>C	CA431675131	COL6A3	c.1033A>G c.7770A>G (p.Lys2590=) c.391A>G n.655A>G c.8388A>G (p.Lys2796=) c.6564A>G (p.Lys2188=) n.75A>G c.6567A>G (p.Lys2189=) n.4830A>G c.7788A>G (p.Lys2596=) c.7167A>G (p.Lys2389=) c.7887A>G (p.Lys2629=) c.8385A>G (p.Lys2795=) c.5982A>G (p.Lys1994=)
2	g.237340528T>G	CA351194829	COL6A3	c.1033A>C c.7770A>C (p.Lys2590Asn) c.391A>C n.655A>C c.8388A>C (p.Lys2796Asn) c.6564A>C (p.Lys2188Asn) n.75A>C c.6567A>C (p.Lys2189Asn) n.4830A>C c.7788A>C (p.Lys2596Asn) c.7167A>C (p.Lys2389Asn) c.7887A>C (p.Lys2629Asn) c.8385A>C (p.Lys2795Asn) c.5982A>C (p.Lys1994Asn)
2	g.237340529T>A	CA351194836	COL6A3	c.1032A>T c.7769A>T (p.Lys2590Ile) c.390A>T n.654A>T c.8387A>T (p.Lys2796Ile) c.6563A>T (p.Lys2188Ile) n.74A>T c.6566A>T (p.Lys2189Ile) n.4829A>T c.7787A>T (p.Lys2596Ile) c.7166A>T (p.Lys2389Ile) c.7886A>T (p.Lys2629Ile) c.8384A>T (p.Lys2795Ile) c.5981A>T (p.Lys1994Ile)
2	g.237340529T>C	CA351194840	COL6A3	c.1032A>G c.7769A>G (p.Lys2590Arg) c.390A>G n.654A>G c.8387A>G (p.Lys2796Arg) c.6563A>G (p.Lys2188Arg) n.74A>G c.6566A>G (p.Lys2189Arg) n.4829A>G c.7787A>G (p.Lys2596Arg) c.7166A>G (p.Lys2389Arg) c.7886A>G (p.Lys2629Arg) c.8384A>G (p.Lys2795Arg) c.5981A>G (p.Lys1994Arg)
2	g.237340529T>G	CA351194838	COL6A3	c.1032A>C c.7769A>C (p.Lys2590Thr) c.390A>C n.654A>C c.8387A>C (p.Lys2796Thr) c.6563A>C (p.Lys2188Thr) n.74A>C c.6566A>C (p.Lys2189Thr) n.4829A>C c.7787A>C (p.Lys2596Thr) c.7166A>C (p.Lys2389Thr) c.7886A>C (p.Lys2629Thr) c.8384A>C (p.Lys2795Thr) c.5981A>C (p.Lys1994Thr)
2	g.237340530T>A	CA351194844	COL6A3	c.1031A>T c.7768A>T (p.Lys2590Ter) c.389A>T n.653A>T c.8386A>T (p.Lys2796Ter) c.6562A>T (p.Lys2188Ter) n.73A>T c.6565A>T (p.Lys2189Ter) n.4828A>T c.7786A>T (p.Lys2596Ter) c.7165A>T (p.Lys2389Ter) c.7885A>T (p.Lys2629Ter) c.8383A>T (p.Lys2795Ter) c.5980A>T (p.Lys1994Ter)
2	g.237340530T>C	CA351194848	COL6A3	c.1031A>G c.7768A>G (p.Lys2590Glu) c.389A>G n.653A>G c.8386A>G (p.Lys2796Glu) c.6562A>G (p.Lys2188Glu) n.73A>G c.6565A>G (p.Lys2189Glu) n.4828A>G c.7786A>G (p.Lys2596Glu) c.7165A>G (p.Lys2389Glu) c.7885A>G (p.Lys2629Glu) c.8383A>G (p.Lys2795Glu) c.5980A>G (p.Lys1994Glu)	ClinVar dbSNP
2	g.237340530T>G	CA351194850	COL6A3	c.1031A>C c.7768A>C (p.Lys2590Gln) c.389A>C n.653A>C c.8386A>C (p.Lys2796Gln) c.6562A>C (p.Lys2188Gln) n.73A>C c.6565A>C (p.Lys2189Gln) n.4828A>C c.7786A>C (p.Lys2596Gln) c.7165A>C (p.Lys2389Gln) c.7885A>C (p.Lys2629Gln) c.8383A>C (p.Lys2795Gln) c.5980A>C (p.Lys1994Gln)
2	g.237340531G>A	CA2187564	COL6A3	c.1030C>T c.7767C>T (p.Phe2589=) c.388C>T n.652C>T c.8385C>T (p.Phe2795=) c.6561C>T (p.Phe2187=) n.72C>T c.6564C>T (p.Phe2188=) n.4827C>T c.7785C>T (p.Phe2595=) c.7164C>T (p.Phe2388=) c.7884C>T (p.Phe2628=) c.8382C>T (p.Phe2794=) c.5979C>T (p.Phe1993=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340531G>C	CA351194856	COL6A3	c.1030C>G c.7767C>G (p.Phe2589Leu) c.388C>G n.652C>G c.8385C>G (p.Phe2795Leu) c.6561C>G (p.Phe2187Leu) n.72C>G c.6564C>G (p.Phe2188Leu) n.4827C>G c.7785C>G (p.Phe2595Leu) c.7164C>G (p.Phe2388Leu) c.7884C>G (p.Phe2628Leu) c.8382C>G (p.Phe2794Leu) c.5979C>G (p.Phe1993Leu)
2	g.237340531G=	CA1337608546	COL6A3	c.1030C= c.7767C= (p.Phe2589=) c.388C= n.652C= c.8385C= (p.Phe2795=) c.6561C= (p.Phe2187=) n.72C= c.6564C= (p.Phe2188=) n.4827C= c.7785C= (p.Phe2595=) c.7164C= (p.Phe2388=) c.7884C= (p.Phe2628=) c.8382C= (p.Phe2794=) c.5979C= (p.Phe1993=)
2	g.237340531G>T	CA351194858	COL6A3	c.1030C>A c.7767C>A (p.Phe2589Leu) c.388C>A n.652C>A c.8385C>A (p.Phe2795Leu) c.6561C>A (p.Phe2187Leu) n.72C>A c.6564C>A (p.Phe2188Leu) n.4827C>A c.7785C>A (p.Phe2595Leu) c.7164C>A (p.Phe2388Leu) c.7884C>A (p.Phe2628Leu) c.8382C>A (p.Phe2794Leu) c.5979C>A (p.Phe1993Leu)
2	g.237340532A>C	CA351194860	COL6A3	c.1029T>G c.7766T>G (p.Phe2589Cys) c.387T>G n.651T>G c.8384T>G (p.Phe2795Cys) c.6560T>G (p.Phe2187Cys) n.71T>G c.6563T>G (p.Phe2188Cys) n.4826T>G c.7784T>G (p.Phe2595Cys) c.7163T>G (p.Phe2388Cys) c.7883T>G (p.Phe2628Cys) c.8381T>G (p.Phe2794Cys) c.5978T>G (p.Phe1993Cys)
2	g.237340532A>G	CA351194863	COL6A3	c.1029T>C c.7766T>C (p.Phe2589Ser) c.387T>C n.651T>C c.8384T>C (p.Phe2795Ser) c.6560T>C (p.Phe2187Ser) n.71T>C c.6563T>C (p.Phe2188Ser) n.4826T>C c.7784T>C (p.Phe2595Ser) c.7163T>C (p.Phe2388Ser) c.7883T>C (p.Phe2628Ser) c.8381T>C (p.Phe2794Ser) c.5978T>C (p.Phe1993Ser)	ClinVar
2	g.237340532A>T	CA351194867	COL6A3	c.1029T>A c.7766T>A (p.Phe2589Tyr) c.387T>A n.651T>A c.8384T>A (p.Phe2795Tyr) c.6560T>A (p.Phe2187Tyr) n.71T>A c.6563T>A (p.Phe2188Tyr) n.4826T>A c.7784T>A (p.Phe2595Tyr) c.7163T>A (p.Phe2388Tyr) c.7883T>A (p.Phe2628Tyr) c.8381T>A (p.Phe2794Tyr) c.5978T>A (p.Phe1993Tyr)
2	g.237340533A>C	CA351194870	COL6A3	c.1028T>G c.7765T>G (p.Phe2589Val) c.386T>G n.650T>G c.8383T>G (p.Phe2795Val) c.6559T>G (p.Phe2187Val) n.70T>G c.6562T>G (p.Phe2188Val) n.4825T>G c.7783T>G (p.Phe2595Val) c.7162T>G (p.Phe2388Val) c.7882T>G (p.Phe2628Val) c.8380T>G (p.Phe2794Val) c.5977T>G (p.Phe1993Val)
2	g.237340533A>G	CA351194873	COL6A3	c.1028T>C c.7765T>C (p.Phe2589Leu) c.386T>C n.650T>C c.8383T>C (p.Phe2795Leu) c.6559T>C (p.Phe2187Leu) n.70T>C c.6562T>C (p.Phe2188Leu) n.4825T>C c.7783T>C (p.Phe2595Leu) c.7162T>C (p.Phe2388Leu) c.7882T>C (p.Phe2628Leu) c.8380T>C (p.Phe2794Leu) c.5977T>C (p.Phe1993Leu)
2	g.237340533A>T	CA351194876	COL6A3	c.1028T>A c.7765T>A (p.Phe2589Ile) c.386T>A n.650T>A c.8383T>A (p.Phe2795Ile) c.6559T>A (p.Phe2187Ile) n.70T>A c.6562T>A (p.Phe2188Ile) n.4825T>A c.7783T>A (p.Phe2595Ile) c.7162T>A (p.Phe2388Ile) c.7882T>A (p.Phe2628Ile) c.8380T>A (p.Phe2794Ile) c.5977T>A (p.Phe1993Ile)
2	g.237340534G>A	CA431675132	COL6A3	c.1027C>T c.7764C>T (p.Phe2588=) c.385C>T n.649C>T c.8382C>T (p.Phe2794=) c.6558C>T (p.Phe2186=) n.69C>T c.6561C>T (p.Phe2187=) n.4824C>T c.7782C>T (p.Phe2594=) c.7161C>T (p.Phe2387=) c.7881C>T (p.Phe2627=) c.8379C>T (p.Phe2793=) c.5976C>T (p.Phe1992=)
2	g.237340534G>C	CA351194878	COL6A3	c.1027C>G c.7764C>G (p.Phe2588Leu) c.385C>G n.649C>G c.8382C>G (p.Phe2794Leu) c.6558C>G (p.Phe2186Leu) n.69C>G c.6561C>G (p.Phe2187Leu) n.4824C>G c.7782C>G (p.Phe2594Leu) c.7161C>G (p.Phe2387Leu) c.7881C>G (p.Phe2627Leu) c.8379C>G (p.Phe2793Leu) c.5976C>G (p.Phe1992Leu)
2	g.237340534G>T	CA351194879	COL6A3	c.1027C>A c.7764C>A (p.Phe2588Leu) c.385C>A n.649C>A c.8382C>A (p.Phe2794Leu) c.6558C>A (p.Phe2186Leu) n.69C>A c.6561C>A (p.Phe2187Leu) n.4824C>A c.7782C>A (p.Phe2594Leu) c.7161C>A (p.Phe2387Leu) c.7881C>A (p.Phe2627Leu) c.8379C>A (p.Phe2793Leu) c.5976C>A (p.Phe1992Leu)
2	g.237340535A>C	CA351194882	COL6A3	c.1026T>G c.7763T>G (p.Phe2588Cys) c.384T>G n.648T>G c.8381T>G (p.Phe2794Cys) c.6557T>G (p.Phe2186Cys) n.68T>G c.6560T>G (p.Phe2187Cys) n.4823T>G c.7781T>G (p.Phe2594Cys) c.7160T>G (p.Phe2387Cys) c.7880T>G (p.Phe2627Cys) c.8378T>G (p.Phe2793Cys) c.5975T>G (p.Phe1992Cys)
2	g.237340535A>G	CA351194885	COL6A3	c.1026T>C c.7763T>C (p.Phe2588Ser) c.384T>C n.648T>C c.8381T>C (p.Phe2794Ser) c.6557T>C (p.Phe2186Ser) n.68T>C c.6560T>C (p.Phe2187Ser) n.4823T>C c.7781T>C (p.Phe2594Ser) c.7160T>C (p.Phe2387Ser) c.7880T>C (p.Phe2627Ser) c.8378T>C (p.Phe2793Ser) c.5975T>C (p.Phe1992Ser)
2	g.237340535A>T	CA351194887	COL6A3	c.1026T>A c.7763T>A (p.Phe2588Tyr) c.384T>A n.648T>A c.8381T>A (p.Phe2794Tyr) c.6557T>A (p.Phe2186Tyr) n.68T>A c.6560T>A (p.Phe2187Tyr) n.4823T>A c.7781T>A (p.Phe2594Tyr) c.7160T>A (p.Phe2387Tyr) c.7880T>A (p.Phe2627Tyr) c.8378T>A (p.Phe2793Tyr) c.5975T>A (p.Phe1992Tyr)
2	g.237340536A=	CA1337608552	COL6A3	c.1025T= c.7762T= (p.Phe2588=) c.383T= n.647T= c.8380T= (p.Phe2794=) c.6556T= (p.Phe2186=) n.67T= c.6559T= (p.Phe2187=) n.4822T= c.7780T= (p.Phe2594=) c.7159T= (p.Phe2387=) c.7879T= (p.Phe2627=) c.8377T= (p.Phe2793=) c.5974T= (p.Phe1992=)
2	g.237340536A>C	CA2187565	COL6A3	c.1025T>G c.7762T>G (p.Phe2588Val) c.383T>G n.647T>G c.8380T>G (p.Phe2794Val) c.6556T>G (p.Phe2186Val) n.67T>G c.6559T>G (p.Phe2187Val) n.4822T>G c.7780T>G (p.Phe2594Val) c.7159T>G (p.Phe2387Val) c.7879T>G (p.Phe2627Val) c.8377T>G (p.Phe2793Val) c.5974T>G (p.Phe1992Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237340536A>G	CA351194896	COL6A3	c.1025T>C c.7762T>C (p.Phe2588Leu) c.383T>C n.647T>C c.8380T>C (p.Phe2794Leu) c.6556T>C (p.Phe2186Leu) n.67T>C c.6559T>C (p.Phe2187Leu) n.4822T>C c.7780T>C (p.Phe2594Leu) c.7159T>C (p.Phe2387Leu) c.7879T>C (p.Phe2627Leu) c.8377T>C (p.Phe2793Leu) c.5974T>C (p.Phe1992Leu)
2	g.237340536A>T	CA351194899	COL6A3	c.1025T>A c.7762T>A (p.Phe2588Ile) c.383T>A n.647T>A c.8380T>A (p.Phe2794Ile) c.6556T>A (p.Phe2186Ile) n.67T>A c.6559T>A (p.Phe2187Ile) n.4822T>A c.7780T>A (p.Phe2594Ile) c.7159T>A (p.Phe2387Ile) c.7879T>A (p.Phe2627Ile) c.8377T>A (p.Phe2793Ile) c.5974T>A (p.Phe1992Ile)
2	g.237340536_237340539delinsAGAC	CA1337608556	COL6A3	c.1022_1025delinsGTCT c.7759_7762delinsGTCT (p.Val2587=) c.380_383delinsGTCT n.644_647delinsGTCT c.8377_8380delinsGTCT (p.Val2793=) c.6553_6556delinsGTCT (p.Val2185=) n.64_67delinsGTCT c.6556_6559delinsGTCT (p.Val2186=) n.4819_4822delinsGTCT c.7777_7780delinsGTCT (p.Val2593=) c.7156_7159delinsGTCT (p.Val2386=) c.7876_7879delinsGTCT (p.Val2626=) c.8374_8377delinsGTCT (p.Val2792=) c.5971_5974delinsGTCT (p.Val1991=)
2	g.237340537G>A	CA431675135	COL6A3	c.1024C>T c.7761C>T (p.Val2587=) c.382C>T n.646C>T c.8379C>T (p.Val2793=) c.6555C>T (p.Val2185=) n.66C>T c.6558C>T (p.Val2186=) n.4821C>T c.7779C>T (p.Val2593=) c.7158C>T (p.Val2386=) c.7878C>T (p.Val2626=) c.8376C>T (p.Val2792=) c.5973C>T (p.Val1991=)
2	g.237340537G>C	CA431675133	COL6A3	c.1024C>G c.7761C>G (p.Val2587=) c.382C>G n.646C>G c.8379C>G (p.Val2793=) c.6555C>G (p.Val2185=) n.66C>G c.6558C>G (p.Val2186=) n.4821C>G c.7779C>G (p.Val2593=) c.7158C>G (p.Val2386=) c.7878C>G (p.Val2626=) c.8376C>G (p.Val2792=) c.5973C>G (p.Val1991=)
2	g.237340537G>T	CA431675134	COL6A3	c.1024C>A c.7761C>A (p.Val2587=) c.382C>A n.646C>A c.8379C>A (p.Val2793=) c.6555C>A (p.Val2185=) n.66C>A c.6558C>A (p.Val2186=) n.4821C>A c.7779C>A (p.Val2593=) c.7158C>A (p.Val2386=) c.7878C>A (p.Val2626=) c.8376C>A (p.Val2792=) c.5973C>A (p.Val1991=)
2	g.237340538_237340540del	CA540461457	COL6A3	c.1022_1024del c.7759_7761del (p.Val2587del) c.380_382del n.644_646del c.8377_8379del (p.Val2793del) c.6553_6555del (p.Val2185del) n.64_66del c.6556_6558del (p.Val2186del) n.4819_4821del c.7777_7779del (p.Val2593del) c.7156_7158del (p.Val2386del) c.7876_7878del (p.Val2626del) c.8374_8376del (p.Val2792del) c.5971_5973del (p.Val1991del)	dbSNP gnomAD v2 gnomAD v4
2	g.237340538A>C	CA351194904	COL6A3	c.1023T>G c.7760T>G (p.Val2587Gly) c.381T>G n.645T>G c.8378T>G (p.Val2793Gly) c.6554T>G (p.Val2185Gly) n.65T>G c.6557T>G (p.Val2186Gly) n.4820T>G c.7778T>G (p.Val2593Gly) c.7157T>G (p.Val2386Gly) c.7877T>G (p.Val2626Gly) c.8375T>G (p.Val2792Gly) c.5972T>G (p.Val1991Gly)
2	g.237340538A>G	CA351194906	COL6A3	c.1023T>C c.7760T>C (p.Val2587Ala) c.381T>C n.645T>C c.8378T>C (p.Val2793Ala) c.6554T>C (p.Val2185Ala) n.65T>C c.6557T>C (p.Val2186Ala) n.4820T>C c.7778T>C (p.Val2593Ala) c.7157T>C (p.Val2386Ala) c.7877T>C (p.Val2626Ala) c.8375T>C (p.Val2792Ala) c.5972T>C (p.Val1991Ala)
2	g.237340538A>T	CA351194908	COL6A3	c.1023T>A c.7760T>A (p.Val2587Asp) c.381T>A n.645T>A c.8378T>A (p.Val2793Asp) c.6554T>A (p.Val2185Asp) n.65T>A c.6557T>A (p.Val2186Asp) n.4820T>A c.7778T>A (p.Val2593Asp) c.7157T>A (p.Val2386Asp) c.7877T>A (p.Val2626Asp) c.8375T>A (p.Val2792Asp) c.5972T>A (p.Val1991Asp)
2	g.237340539C>A	CA351194911	COL6A3	c.1022G>T c.7759G>T (p.Val2587Phe) c.380G>T n.644G>T c.8377G>T (p.Val2793Phe) c.6553G>T (p.Val2185Phe) n.64G>T c.6556G>T (p.Val2186Phe) n.4819G>T c.7777G>T (p.Val2593Phe) c.7156G>T (p.Val2386Phe) c.7876G>T (p.Val2626Phe) c.8374G>T (p.Val2792Phe) c.5971G>T (p.Val1991Phe)
2	g.237340539C=	CA1337608563	COL6A3	c.1022G= c.7759G= (p.Val2587=) c.380G= n.644G= c.8377G= (p.Val2793=) c.6553G= (p.Val2185=) n.64G= c.6556G= (p.Val2186=) n.4819G= c.7777G= (p.Val2593=) c.7156G= (p.Val2386=) c.7876G= (p.Val2626=) c.8374G= (p.Val2792=) c.5971G= (p.Val1991=)
2	g.237340539C>G	CA351194913	COL6A3	c.1022G>C c.7759G>C (p.Val2587Leu) c.380G>C n.644G>C c.8377G>C (p.Val2793Leu) c.6553G>C (p.Val2185Leu) n.64G>C c.6556G>C (p.Val2186Leu) n.4819G>C c.7777G>C (p.Val2593Leu) c.7156G>C (p.Val2386Leu) c.7876G>C (p.Val2626Leu) c.8374G>C (p.Val2792Leu) c.5971G>C (p.Val1991Leu)
2	g.237340539C>T	CA2187566	COL6A3	c.1022G>A c.7759G>A (p.Val2587Ile) c.380G>A n.644G>A c.8377G>A (p.Val2793Ile) c.6553G>A (p.Val2185Ile) n.64G>A c.6556G>A (p.Val2186Ile) n.4819G>A c.7777G>A (p.Val2593Ile) c.7156G>A (p.Val2386Ile) c.7876G>A (p.Val2626Ile) c.8374G>A (p.Val2792Ile) c.5971G>A (p.Val1991Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237340540G>A	CA2187567	COL6A3	c.1021C>T c.7758C>T (p.Asp2586=) c.379C>T n.643C>T c.8376C>T (p.Asp2792=) c.6552C>T (p.Asp2184=) n.63C>T c.6555C>T (p.Asp2185=) n.4818C>T c.7776C>T (p.Asp2592=) c.7155C>T (p.Asp2385=) c.7875C>T (p.Asp2625=) c.8373C>T (p.Asp2791=) c.5970C>T (p.Asp1990=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237340540G>C	CA351194921	COL6A3	c.1021C>G c.7758C>G (p.Asp2586Glu) c.379C>G n.643C>G c.8376C>G (p.Asp2792Glu) c.6552C>G (p.Asp2184Glu) n.63C>G c.6555C>G (p.Asp2185Glu) n.4818C>G c.7776C>G (p.Asp2592Glu) c.7155C>G (p.Asp2385Glu) c.7875C>G (p.Asp2625Glu) c.8373C>G (p.Asp2791Glu) c.5970C>G (p.Asp1990Glu)
2	g.237340540G=	CA1337608568	COL6A3	c.1021C= c.7758C= (p.Asp2586=) c.379C= n.643C= c.8376C= (p.Asp2792=) c.6552C= (p.Asp2184=) n.63C= c.6555C= (p.Asp2185=) n.4818C= c.7776C= (p.Asp2592=) c.7155C= (p.Asp2385=) c.7875C= (p.Asp2625=) c.8373C= (p.Asp2791=) c.5970C= (p.Asp1990=)
2	g.237340540G>T	CA351194919	COL6A3	c.1021C>A c.7758C>A (p.Asp2586Glu) c.379C>A n.643C>A c.8376C>A (p.Asp2792Glu) c.6552C>A (p.Asp2184Glu) n.63C>A c.6555C>A (p.Asp2185Glu) n.4818C>A c.7776C>A (p.Asp2592Glu) c.7155C>A (p.Asp2385Glu) c.7875C>A (p.Asp2625Glu) c.8373C>A (p.Asp2791Glu) c.5970C>A (p.Asp1990Glu)
2	g.237340541T>A	CA351194925	COL6A3	c.1020A>T c.7757A>T (p.Asp2586Val) c.378A>T n.642A>T c.8375A>T (p.Asp2792Val) c.6551A>T (p.Asp2184Val) n.62A>T c.6554A>T (p.Asp2185Val) n.4817A>T c.7775A>T (p.Asp2592Val) c.7154A>T (p.Asp2385Val) c.7874A>T (p.Asp2625Val) c.8372A>T (p.Asp2791Val) c.5969A>T (p.Asp1990Val)
2	g.237340541T>C	CA10606649	COL6A3	c.1020A>G c.7757A>G (p.Asp2586Gly) c.378A>G n.642A>G c.8375A>G (p.Asp2792Gly) c.6551A>G (p.Asp2184Gly) n.62A>G c.6554A>G (p.Asp2185Gly) n.4817A>G c.7775A>G (p.Asp2592Gly) c.7154A>G (p.Asp2385Gly) c.7874A>G (p.Asp2625Gly) c.8372A>G (p.Asp2791Gly) c.5969A>G (p.Asp1990Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237340541T>G	CA351194928	COL6A3	c.1020A>C c.7757A>C (p.Asp2586Ala) c.378A>C n.642A>C c.8375A>C (p.Asp2792Ala) c.6551A>C (p.Asp2184Ala) n.62A>C c.6554A>C (p.Asp2185Ala) n.4817A>C c.7775A>C (p.Asp2592Ala) c.7154A>C (p.Asp2385Ala) c.7874A>C (p.Asp2625Ala) c.8372A>C (p.Asp2791Ala) c.5969A>C (p.Asp1990Ala)
2	g.237340541T=	CA1337608574	COL6A3	c.1020A= c.7757A= (p.Asp2586=) c.378A= n.642A= c.8375A= (p.Asp2792=) c.6551A= (p.Asp2184=) n.62A= c.6554A= (p.Asp2185=) n.4817A= c.7775A= (p.Asp2592=) c.7154A= (p.Asp2385=) c.7874A= (p.Asp2625=) c.8372A= (p.Asp2791=) c.5969A= (p.Asp1990=)
2	g.237340542del	CA2577289370	COL6A3	c.1019del c.7756del (p.Asp2586ThrfsTer6) c.377del n.641del c.8374del (p.Asp2792ThrfsTer6) c.6550del (p.Asp2184ThrfsTer6) n.61del c.6553del (p.Asp2185ThrfsTer6) n.4816del c.7774del (p.Asp2592ThrfsTer6) c.7153del (p.Asp2385ThrfsTer6) c.7873del (p.Asp2625ThrfsTer6) c.8371del (p.Asp2791ThrfsTer6) c.5968del (p.Asp1990ThrfsTer6)
2	g.237340542C>A	CA351194930	COL6A3	c.1019G>T c.7756G>T (p.Asp2586Tyr) c.377G>T n.641G>T c.8374G>T (p.Asp2792Tyr) c.6550G>T (p.Asp2184Tyr) n.61G>T c.6553G>T (p.Asp2185Tyr) n.4816G>T c.7774G>T (p.Asp2592Tyr) c.7153G>T (p.Asp2385Tyr) c.7873G>T (p.Asp2625Tyr) c.8371G>T (p.Asp2791Tyr) c.5968G>T (p.Asp1990Tyr)
2	g.237340542C=	CA1337608578	COL6A3	c.1019G= c.7756G= (p.Asp2586=) c.377G= n.641G= c.8374G= (p.Asp2792=) c.6550G= (p.Asp2184=) n.61G= c.6553G= (p.Asp2185=) n.4816G= c.7774G= (p.Asp2592=) c.7153G= (p.Asp2385=) c.7873G= (p.Asp2625=) c.8371G= (p.Asp2791=) c.5968G= (p.Asp1990=)
2	g.237340542C>G	CA351194931	COL6A3	c.1019G>C c.7756G>C (p.Asp2586His) c.377G>C n.641G>C c.8374G>C (p.Asp2792His) c.6550G>C (p.Asp2184His) n.61G>C c.6553G>C (p.Asp2185His) n.4816G>C c.7774G>C (p.Asp2592His) c.7153G>C (p.Asp2385His) c.7873G>C (p.Asp2625His) c.8371G>C (p.Asp2791His) c.5968G>C (p.Asp1990His)
2	g.237340542C>T	CA2187568	COL6A3	c.1019G>A c.7756G>A (p.Asp2586Asn) c.377G>A n.641G>A c.8374G>A (p.Asp2792Asn) c.6550G>A (p.Asp2184Asn) n.61G>A c.6553G>A (p.Asp2185Asn) n.4816G>A c.7774G>A (p.Asp2592Asn) c.7153G>A (p.Asp2385Asn) c.7873G>A (p.Asp2625Asn) c.8371G>A (p.Asp2791Asn) c.5968G>A (p.Asp1990Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237340543G>A	CA2187569	COL6A3	c.1018C>T c.7755C>T (p.Asn2585=) c.376C>T n.640C>T c.8373C>T (p.Asn2791=) c.6549C>T (p.Asn2183=) n.60C>T c.6552C>T (p.Asn2184=) n.4815C>T c.7773C>T (p.Asn2591=) c.7152C>T (p.Asn2384=) c.7872C>T (p.Asn2624=) c.8370C>T (p.Asn2790=) c.5967C>T (p.Asn1989=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237340543G>C	CA351194935	COL6A3	c.1018C>G c.7755C>G (p.Asn2585Lys) c.376C>G n.640C>G c.8373C>G (p.Asn2791Lys) c.6549C>G (p.Asn2183Lys) n.60C>G c.6552C>G (p.Asn2184Lys) n.4815C>G c.7773C>G (p.Asn2591Lys) c.7152C>G (p.Asn2384Lys) c.7872C>G (p.Asn2624Lys) c.8370C>G (p.Asn2790Lys) c.5967C>G (p.Asn1989Lys)	COSMIC
2	g.237340543G=	CA1337608584	COL6A3	c.1018C= c.7755C= (p.Asn2585=) c.376C= n.640C= c.8373C= (p.Asn2791=) c.6549C= (p.Asn2183=) n.60C= c.6552C= (p.Asn2184=) n.4815C= c.7773C= (p.Asn2591=) c.7152C= (p.Asn2384=) c.7872C= (p.Asn2624=) c.8370C= (p.Asn2790=) c.5967C= (p.Asn1989=)
2	g.237340543G>T	CA2187570	COL6A3	c.1018C>A c.7755C>A (p.Asn2585Lys) c.376C>A n.640C>A c.8373C>A (p.Asn2791Lys) c.6549C>A (p.Asn2183Lys) n.60C>A c.6552C>A (p.Asn2184Lys) n.4815C>A c.7773C>A (p.Asn2591Lys) c.7152C>A (p.Asn2384Lys) c.7872C>A (p.Asn2624Lys) c.8370C>A (p.Asn2790Lys) c.5967C>A (p.Asn1989Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237340544T>A	CA351194940	COL6A3	c.1017A>T c.7754A>T (p.Asn2585Ile) c.375A>T n.639A>T c.8372A>T (p.Asn2791Ile) c.6548A>T (p.Asn2183Ile) n.59A>T c.6551A>T (p.Asn2184Ile) n.4814A>T c.7772A>T (p.Asn2591Ile) c.7151A>T (p.Asn2384Ile) c.7871A>T (p.Asn2624Ile) c.8369A>T (p.Asn2790Ile) c.5966A>T (p.Asn1989Ile)
2	g.237340544T>C	CA351194942	COL6A3	c.1017A>G c.7754A>G (p.Asn2585Ser) c.375A>G n.639A>G c.8372A>G (p.Asn2791Ser) c.6548A>G (p.Asn2183Ser) n.59A>G c.6551A>G (p.Asn2184Ser) n.4814A>G c.7772A>G (p.Asn2591Ser) c.7151A>G (p.Asn2384Ser) c.7871A>G (p.Asn2624Ser) c.8369A>G (p.Asn2790Ser) c.5966A>G (p.Asn1989Ser)
2	g.237340544T>G	CA351194945	COL6A3	c.1017A>C c.7754A>C (p.Asn2585Thr) c.375A>C n.639A>C c.8372A>C (p.Asn2791Thr) c.6548A>C (p.Asn2183Thr) n.59A>C c.6551A>C (p.Asn2184Thr) n.4814A>C c.7772A>C (p.Asn2591Thr) c.7151A>C (p.Asn2384Thr) c.7871A>C (p.Asn2624Thr) c.8369A>C (p.Asn2790Thr) c.5966A>C (p.Asn1989Thr)
2	g.237340545T>A	CA351194955	COL6A3	c.1016A>T c.7753A>T (p.Asn2585Tyr) c.374A>T n.638A>T c.8371A>T (p.Asn2791Tyr) c.6547A>T (p.Asn2183Tyr) n.58A>T c.6550A>T (p.Asn2184Tyr) n.4813A>T c.7771A>T (p.Asn2591Tyr) c.7150A>T (p.Asn2384Tyr) c.7870A>T (p.Asn2624Tyr) c.8368A>T (p.Asn2790Tyr) c.5965A>T (p.Asn1989Tyr)
2	g.237340545T>C	CA351194951	COL6A3	c.1016A>G c.7753A>G (p.Asn2585Asp) c.374A>G n.638A>G c.8371A>G (p.Asn2791Asp) c.6547A>G (p.Asn2183Asp) n.58A>G c.6550A>G (p.Asn2184Asp) n.4813A>G c.7771A>G (p.Asn2591Asp) c.7150A>G (p.Asn2384Asp) c.7870A>G (p.Asn2624Asp) c.8368A>G (p.Asn2790Asp) c.5965A>G (p.Asn1989Asp)
2	g.237340545T>G	CA351194953	COL6A3	c.1016A>C c.7753A>C (p.Asn2585His) c.374A>C n.638A>C c.8371A>C (p.Asn2791His) c.6547A>C (p.Asn2183His) n.58A>C c.6550A>C (p.Asn2184His) n.4813A>C c.7771A>C (p.Asn2591His) c.7150A>C (p.Asn2384His) c.7870A>C (p.Asn2624His) c.8368A>C (p.Asn2790His) c.5965A>C (p.Asn1989His)
2	g.237340546T>A	CA431675136	COL6A3	c.1015A>T c.7752A>T (p.Pro2584=) c.373A>T n.637A>T c.8370A>T (p.Pro2790=) c.6546A>T (p.Pro2182=) n.57A>T c.6549A>T (p.Pro2183=) n.4812A>T c.7770A>T (p.Pro2590=) c.7149A>T (p.Pro2383=) c.7869A>T (p.Pro2623=) c.8367A>T (p.Pro2789=) c.5964A>T (p.Pro1988=)
2	g.237340546T>C	CA431675138	COL6A3	c.1015A>G c.7752A>G (p.Pro2584=) c.373A>G n.637A>G c.8370A>G (p.Pro2790=) c.6546A>G (p.Pro2182=) n.57A>G c.6549A>G (p.Pro2183=) n.4812A>G c.7770A>G (p.Pro2590=) c.7149A>G (p.Pro2383=) c.7869A>G (p.Pro2623=) c.8367A>G (p.Pro2789=) c.5964A>G (p.Pro1988=)
2	g.237340546T>G	CA431675137	COL6A3	c.1015A>C c.7752A>C (p.Pro2584=) c.373A>C n.637A>C c.8370A>C (p.Pro2790=) c.6546A>C (p.Pro2182=) n.57A>C c.6549A>C (p.Pro2183=) n.4812A>C c.7770A>C (p.Pro2590=) c.7149A>C (p.Pro2383=) c.7869A>C (p.Pro2623=) c.8367A>C (p.Pro2789=) c.5964A>C (p.Pro1988=)
2	g.237340547G>A	CA351194960	COL6A3	c.1014C>T c.7751C>T (p.Pro2584Leu) c.372C>T n.636C>T c.8369C>T (p.Pro2790Leu) c.6545C>T (p.Pro2182Leu) n.56C>T c.6548C>T (p.Pro2183Leu) n.4811C>T c.7769C>T (p.Pro2590Leu) c.7148C>T (p.Pro2383Leu) c.7868C>T (p.Pro2623Leu) c.8366C>T (p.Pro2789Leu) c.5963C>T (p.Pro1988Leu)
2	g.237340547G>C	CA351194963	COL6A3	c.1014C>G c.7751C>G (p.Pro2584Arg) c.372C>G n.636C>G c.8369C>G (p.Pro2790Arg) c.6545C>G (p.Pro2182Arg) n.56C>G c.6548C>G (p.Pro2183Arg) n.4811C>G c.7769C>G (p.Pro2590Arg) c.7148C>G (p.Pro2383Arg) c.7868C>G (p.Pro2623Arg) c.8366C>G (p.Pro2789Arg) c.5963C>G (p.Pro1988Arg)
2	g.237340547G>T	CA351194966	COL6A3	c.1014C>A c.7751C>A (p.Pro2584Gln) c.372C>A n.636C>A c.8369C>A (p.Pro2790Gln) c.6545C>A (p.Pro2182Gln) n.56C>A c.6548C>A (p.Pro2183Gln) n.4811C>A c.7769C>A (p.Pro2590Gln) c.7148C>A (p.Pro2383Gln) c.7868C>A (p.Pro2623Gln) c.8366C>A (p.Pro2789Gln) c.5963C>A (p.Pro1988Gln)
2	g.237340548G>A	CA351194970	COL6A3	c.1013C>T c.7750C>T (p.Pro2584Ser) c.371C>T n.635C>T c.8368C>T (p.Pro2790Ser) c.6544C>T (p.Pro2182Ser) n.55C>T c.6547C>T (p.Pro2183Ser) n.4810C>T c.7768C>T (p.Pro2590Ser) c.7147C>T (p.Pro2383Ser) c.7867C>T (p.Pro2623Ser) c.8365C>T (p.Pro2789Ser) c.5962C>T (p.Pro1988Ser)	dbSNP
2	g.237340548G>C	CA351194972	COL6A3	c.1013C>G c.7750C>G (p.Pro2584Ala) c.371C>G n.635C>G c.8368C>G (p.Pro2790Ala) c.6544C>G (p.Pro2182Ala) n.55C>G c.6547C>G (p.Pro2183Ala) n.4810C>G c.7768C>G (p.Pro2590Ala) c.7147C>G (p.Pro2383Ala) c.7867C>G (p.Pro2623Ala) c.8365C>G (p.Pro2789Ala) c.5962C>G (p.Pro1988Ala)
2	g.237340548G=	CA1337608587	COL6A3	c.1013C= c.7750C= (p.Pro2584=) c.371C= n.635C= c.8368C= (p.Pro2790=) c.6544C= (p.Pro2182=) n.55C= c.6547C= (p.Pro2183=) n.4810C= c.7768C= (p.Pro2590=) c.7147C= (p.Pro2383=) c.7867C= (p.Pro2623=) c.8365C= (p.Pro2789=) c.5962C= (p.Pro1988=)
2	g.237340548G>T	CA351194975	COL6A3	c.1013C>A c.7750C>A (p.Pro2584Thr) c.371C>A n.635C>A c.8368C>A (p.Pro2790Thr) c.6544C>A (p.Pro2182Thr) n.55C>A c.6547C>A (p.Pro2183Thr) n.4810C>A c.7768C>A (p.Pro2590Thr) c.7147C>A (p.Pro2383Thr) c.7867C>A (p.Pro2623Thr) c.8365C>A (p.Pro2789Thr) c.5962C>A (p.Pro1988Thr)
2	g.237340549C>A	CA351194976	COL6A3	c.1012G>T c.7749G>T (p.Glu2583Asp) c.370G>T n.634G>T c.8367G>T (p.Glu2789Asp) c.6543G>T (p.Glu2181Asp) n.54G>T c.6546G>T (p.Glu2182Asp) n.4809G>T c.7767G>T (p.Glu2589Asp) c.7146G>T (p.Glu2382Asp) c.7866G>T (p.Glu2622Asp) c.8364G>T (p.Glu2788Asp) c.5961G>T (p.Glu1987Asp)
2	g.237340549C>G	CA351194978	COL6A3	c.1012G>C c.7749G>C (p.Glu2583Asp) c.370G>C n.634G>C c.8367G>C (p.Glu2789Asp) c.6543G>C (p.Glu2181Asp) n.54G>C c.6546G>C (p.Glu2182Asp) n.4809G>C c.7767G>C (p.Glu2589Asp) c.7146G>C (p.Glu2382Asp) c.7866G>C (p.Glu2622Asp) c.8364G>C (p.Glu2788Asp) c.5961G>C (p.Glu1987Asp)
2	g.237340549C>T	CA431701409	COL6A3	c.1012G>A c.7749G>A (p.Glu2583=) c.370G>A n.634G>A c.8367G>A (p.Glu2789=) c.6543G>A (p.Glu2181=) n.54G>A c.6546G>A (p.Glu2182=) n.4809G>A c.7767G>A (p.Glu2589=) c.7146G>A (p.Glu2382=) c.7866G>A (p.Glu2622=) c.8364G>A (p.Glu2788=) c.5961G>A (p.Glu1987=)
2	g.237340550T>A	CA351194983	COL6A3	c.1011A>T c.7748A>T (p.Glu2583Val) c.369A>T n.633A>T c.8366A>T (p.Glu2789Val) c.6542A>T (p.Glu2181Val) n.53A>T c.6545A>T (p.Glu2182Val) n.4808A>T c.7766A>T (p.Glu2589Val) c.7145A>T (p.Glu2382Val) c.7865A>T (p.Glu2622Val) c.8363A>T (p.Glu2788Val) c.5960A>T (p.Glu1987Val)
2	g.237340550T>C	CA351194986	COL6A3	c.1011A>G c.7748A>G (p.Glu2583Gly) c.369A>G n.633A>G c.8366A>G (p.Glu2789Gly) c.6542A>G (p.Glu2181Gly) n.53A>G c.6545A>G (p.Glu2182Gly) n.4808A>G c.7766A>G (p.Glu2589Gly) c.7145A>G (p.Glu2382Gly) c.7865A>G (p.Glu2622Gly) c.8363A>G (p.Glu2788Gly) c.5960A>G (p.Glu1987Gly)
2	g.237340550T>G	CA351194988	COL6A3	c.1011A>C c.7748A>C (p.Glu2583Ala) c.369A>C n.633A>C c.8366A>C (p.Glu2789Ala) c.6542A>C (p.Glu2181Ala) n.53A>C c.6545A>C (p.Glu2182Ala) n.4808A>C c.7766A>C (p.Glu2589Ala) c.7145A>C (p.Glu2382Ala) c.7865A>C (p.Glu2622Ala) c.8363A>C (p.Glu2788Ala) c.5960A>C (p.Glu1987Ala)
2	g.237340551C>A	CA351194992	COL6A3	c.1010G>T c.7747G>T (p.Glu2583Ter) c.368G>T n.632G>T c.8365G>T (p.Glu2789Ter) c.6541G>T (p.Glu2181Ter) n.52G>T c.6544G>T (p.Glu2182Ter) n.4807G>T c.7765G>T (p.Glu2589Ter) c.7144G>T (p.Glu2382Ter) c.7864G>T (p.Glu2622Ter) c.8362G>T (p.Glu2788Ter) c.5959G>T (p.Glu1987Ter)
2	g.237340551C=	CA1337608590	COL6A3	c.1010G= c.7747G= (p.Glu2583=) c.368G= n.632G= c.8365G= (p.Glu2789=) c.6541G= (p.Glu2181=) n.52G= c.6544G= (p.Glu2182=) n.4807G= c.7765G= (p.Glu2589=) c.7144G= (p.Glu2382=) c.7864G= (p.Glu2622=) c.8362G= (p.Glu2788=) c.5959G= (p.Glu1987=)
2	g.237340551C>G	CA351194994	COL6A3	c.1010G>C c.7747G>C (p.Glu2583Gln) c.368G>C n.632G>C c.8365G>C (p.Glu2789Gln) c.6541G>C (p.Glu2181Gln) n.52G>C c.6544G>C (p.Glu2182Gln) n.4807G>C c.7765G>C (p.Glu2589Gln) c.7144G>C (p.Glu2382Gln) c.7864G>C (p.Glu2622Gln) c.8362G>C (p.Glu2788Gln) c.5959G>C (p.Glu1987Gln)
2	g.237340551C>T	CA351194990	COL6A3	c.1010G>A c.7747G>A (p.Glu2583Lys) c.368G>A n.632G>A c.8365G>A (p.Glu2789Lys) c.6541G>A (p.Glu2181Lys) n.52G>A c.6544G>A (p.Glu2182Lys) n.4807G>A c.7765G>A (p.Glu2589Lys) c.7144G>A (p.Glu2382Lys) c.7864G>A (p.Glu2622Lys) c.8362G>A (p.Glu2788Lys) c.5959G>A (p.Glu1987Lys)	dbSNP
2	g.237340552A>C	CA351194998	COL6A3	c.1009T>G c.7746T>G (p.Ser2582Arg) c.367T>G n.631T>G c.8364T>G (p.Ser2788Arg) c.6540T>G (p.Ser2180Arg) n.51T>G c.6543T>G (p.Ser2181Arg) n.4806T>G c.7764T>G (p.Ser2588Arg) c.7143T>G (p.Ser2381Arg) c.7863T>G (p.Ser2621Arg) c.8361T>G (p.Ser2787Arg) c.5958T>G (p.Ser1986Arg)
2	g.237340552A>G	CA431701424	COL6A3	c.1009T>C c.7746T>C (p.Ser2582=) c.367T>C n.631T>C c.8364T>C (p.Ser2788=) c.6540T>C (p.Ser2180=) n.51T>C c.6543T>C (p.Ser2181=) n.4806T>C c.7764T>C (p.Ser2588=) c.7143T>C (p.Ser2381=) c.7863T>C (p.Ser2621=) c.8361T>C (p.Ser2787=) c.5958T>C (p.Ser1986=)
2	g.237340552A>T	CA351194996	COL6A3	c.1009T>A c.7746T>A (p.Ser2582Arg) c.367T>A n.631T>A c.8364T>A (p.Ser2788Arg) c.6540T>A (p.Ser2180Arg) n.51T>A c.6543T>A (p.Ser2181Arg) n.4806T>A c.7764T>A (p.Ser2588Arg) c.7143T>A (p.Ser2381Arg) c.7863T>A (p.Ser2621Arg) c.8361T>A (p.Ser2787Arg) c.5958T>A (p.Ser1986Arg)
2	g.237340553C>A	CA351195004	COL6A3	c.1008G>T c.7745G>T (p.Ser2582Ile) c.366G>T n.630G>T c.8363G>T (p.Ser2788Ile) c.6539G>T (p.Ser2180Ile) n.50G>T c.6542G>T (p.Ser2181Ile) n.4805G>T c.7763G>T (p.Ser2588Ile) c.7142G>T (p.Ser2381Ile) c.7862G>T (p.Ser2621Ile) c.8360G>T (p.Ser2787Ile) c.5957G>T (p.Ser1986Ile)
2	g.237340553C>G	CA351195006	COL6A3	c.1008G>C c.7745G>C (p.Ser2582Thr) c.366G>C n.630G>C c.8363G>C (p.Ser2788Thr) c.6539G>C (p.Ser2180Thr) n.50G>C c.6542G>C (p.Ser2181Thr) n.4805G>C c.7763G>C (p.Ser2588Thr) c.7142G>C (p.Ser2381Thr) c.7862G>C (p.Ser2621Thr) c.8360G>C (p.Ser2787Thr) c.5957G>C (p.Ser1986Thr)
2	g.237340553C>T	CA351195009	COL6A3	c.1008G>A c.7745G>A (p.Ser2582Asn) c.366G>A n.630G>A c.8363G>A (p.Ser2788Asn) c.6539G>A (p.Ser2180Asn) n.50G>A c.6542G>A (p.Ser2181Asn) n.4805G>A c.7763G>A (p.Ser2588Asn) c.7142G>A (p.Ser2381Asn) c.7862G>A (p.Ser2621Asn) c.8360G>A (p.Ser2787Asn) c.5957G>A (p.Ser1986Asn)
2	g.237340554T>A	CA351195012	COL6A3	c.1007A>T c.7744A>T (p.Ser2582Cys) c.365A>T n.629A>T c.8362A>T (p.Ser2788Cys) c.6538A>T (p.Ser2180Cys) n.49A>T c.6541A>T (p.Ser2181Cys) n.4804A>T c.7762A>T (p.Ser2588Cys) c.7141A>T (p.Ser2381Cys) c.7861A>T (p.Ser2621Cys) c.8359A>T (p.Ser2787Cys) c.5956A>T (p.Ser1986Cys)
2	g.237340554T>C	CA351195015	COL6A3	c.1007A>G c.7744A>G (p.Ser2582Gly) c.365A>G n.629A>G c.8362A>G (p.Ser2788Gly) c.6538A>G (p.Ser2180Gly) n.49A>G c.6541A>G (p.Ser2181Gly) n.4804A>G c.7762A>G (p.Ser2588Gly) c.7141A>G (p.Ser2381Gly) c.7861A>G (p.Ser2621Gly) c.8359A>G (p.Ser2787Gly) c.5956A>G (p.Ser1986Gly)	dbSNP
2	g.237340554T>G	CA351195017	COL6A3	c.1007A>C c.7744A>C (p.Ser2582Arg) c.365A>C n.629A>C c.8362A>C (p.Ser2788Arg) c.6538A>C (p.Ser2180Arg) n.49A>C c.6541A>C (p.Ser2181Arg) n.4804A>C c.7762A>C (p.Ser2588Arg) c.7141A>C (p.Ser2381Arg) c.7861A>C (p.Ser2621Arg) c.8359A>C (p.Ser2787Arg) c.5956A>C (p.Ser1986Arg)	gnomAD v4
2	g.237340554T=	CA1337608594	COL6A3	c.1007A= c.7744A= (p.Ser2582=) c.365A= n.629A= c.8362A= (p.Ser2788=) c.6538A= (p.Ser2180=) n.49A= c.6541A= (p.Ser2181=) n.4804A= c.7762A= (p.Ser2588=) c.7141A= (p.Ser2381=) c.7861A= (p.Ser2621=) c.8359A= (p.Ser2787=) c.5956A= (p.Ser1986=)
2	g.237340555G>A	CA431701446	COL6A3	c.1006C>T c.7743C>T (p.Ala2581=) c.364C>T n.628C>T c.8361C>T (p.Ala2787=) c.6537C>T (p.Ala2179=) n.48C>T c.6540C>T (p.Ala2180=) n.4803C>T c.7761C>T (p.Ala2587=) c.7140C>T (p.Ala2380=) c.7860C>T (p.Ala2620=) c.8358C>T (p.Ala2786=) c.5955C>T (p.Ala1985=)	gnomAD v4
2	g.237340555G>C	CA431701451	COL6A3	c.1006C>G c.7743C>G (p.Ala2581=) c.364C>G n.628C>G c.8361C>G (p.Ala2787=) c.6537C>G (p.Ala2179=) n.48C>G c.6540C>G (p.Ala2180=) n.4803C>G c.7761C>G (p.Ala2587=) c.7140C>G (p.Ala2380=) c.7860C>G (p.Ala2620=) c.8358C>G (p.Ala2786=) c.5955C>G (p.Ala1985=)
2	g.237340555G>T	CA431701456	COL6A3	c.1006C>A c.7743C>A (p.Ala2581=) c.364C>A n.628C>A c.8361C>A (p.Ala2787=) c.6537C>A (p.Ala2179=) n.48C>A c.6540C>A (p.Ala2180=) n.4803C>A c.7761C>A (p.Ala2587=) c.7140C>A (p.Ala2380=) c.7860C>A (p.Ala2620=) c.8358C>A (p.Ala2786=) c.5955C>A (p.Ala1985=)
2	g.237340556G>A	CA351195021	COL6A3	c.1005C>T c.7742C>T (p.Ala2581Val) c.363C>T n.627C>T c.8360C>T (p.Ala2787Val) c.6536C>T (p.Ala2179Val) n.47C>T c.6539C>T (p.Ala2180Val) n.4802C>T c.7760C>T (p.Ala2587Val) c.7139C>T (p.Ala2380Val) c.7859C>T (p.Ala2620Val) c.8357C>T (p.Ala2786Val) c.5954C>T (p.Ala1985Val)	dbSNP gnomAD v2
2	g.237340556G>C	CA351195024	COL6A3	c.1005C>G c.7742C>G (p.Ala2581Gly) c.363C>G n.627C>G c.8360C>G (p.Ala2787Gly) c.6536C>G (p.Ala2179Gly) n.47C>G c.6539C>G (p.Ala2180Gly) n.4802C>G c.7760C>G (p.Ala2587Gly) c.7139C>G (p.Ala2380Gly) c.7859C>G (p.Ala2620Gly) c.8357C>G (p.Ala2786Gly) c.5954C>G (p.Ala1985Gly)	gnomAD v4
2	g.237340556G=	CA1337608598	COL6A3	c.1005C= c.7742C= (p.Ala2581=) c.363C= n.627C= c.8360C= (p.Ala2787=) c.6536C= (p.Ala2179=) n.47C= c.6539C= (p.Ala2180=) n.4802C= c.7760C= (p.Ala2587=) c.7139C= (p.Ala2380=) c.7859C= (p.Ala2620=) c.8357C= (p.Ala2786=) c.5954C= (p.Ala1985=)
2	g.237340556G>T	CA351195027	COL6A3	c.1005C>A c.7742C>A (p.Ala2581Asp) c.363C>A n.627C>A c.8360C>A (p.Ala2787Asp) c.6536C>A (p.Ala2179Asp) n.47C>A c.6539C>A (p.Ala2180Asp) n.4802C>A c.7760C>A (p.Ala2587Asp) c.7139C>A (p.Ala2380Asp) c.7859C>A (p.Ala2620Asp) c.8357C>A (p.Ala2786Asp) c.5954C>A (p.Ala1985Asp)
2	g.237340557C>A	CA351195029	COL6A3	c.1004G>T c.7741G>T (p.Ala2581Ser) c.362G>T n.626G>T c.8359G>T (p.Ala2787Ser) c.6535G>T (p.Ala2179Ser) n.46G>T c.6538G>T (p.Ala2180Ser) n.4801G>T c.7759G>T (p.Ala2587Ser) c.7138G>T (p.Ala2380Ser) c.7858G>T (p.Ala2620Ser) c.8356G>T (p.Ala2786Ser) c.5953G>T (p.Ala1985Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340557C=	CA1337608604	COL6A3	c.1004G= c.7741G= (p.Ala2581=) c.362G= n.626G= c.8359G= (p.Ala2787=) c.6535G= (p.Ala2179=) n.46G= c.6538G= (p.Ala2180=) n.4801G= c.7759G= (p.Ala2587=) c.7138G= (p.Ala2380=) c.7858G= (p.Ala2620=) c.8356G= (p.Ala2786=) c.5953G= (p.Ala1985=)
2	g.237340557C>G	CA351195032	COL6A3	c.1004G>C c.7741G>C (p.Ala2581Pro) c.362G>C n.626G>C c.8359G>C (p.Ala2787Pro) c.6535G>C (p.Ala2179Pro) n.46G>C c.6538G>C (p.Ala2180Pro) n.4801G>C c.7759G>C (p.Ala2587Pro) c.7138G>C (p.Ala2380Pro) c.7858G>C (p.Ala2620Pro) c.8356G>C (p.Ala2786Pro) c.5953G>C (p.Ala1985Pro)
2	g.237340557C>T	CA2187571	COL6A3	c.1004G>A c.7741G>A (p.Ala2581Thr) c.362G>A n.626G>A c.8359G>A (p.Ala2787Thr) c.6535G>A (p.Ala2179Thr) n.46G>A c.6538G>A (p.Ala2180Thr) n.4801G>A c.7759G>A (p.Ala2587Thr) c.7138G>A (p.Ala2380Thr) c.7858G>A (p.Ala2620Thr) c.8356G>A (p.Ala2786Thr) c.5953G>A (p.Ala1985Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340558G>A	CA2187572	COL6A3	c.1003C>T c.7740C>T (p.Phe2580=) c.361C>T n.625C>T c.8358C>T (p.Phe2786=) c.6534C>T (p.Phe2178=) n.45C>T c.6537C>T (p.Phe2179=) n.4800C>T c.7758C>T (p.Phe2586=) c.7137C>T (p.Phe2379=) c.7857C>T (p.Phe2619=) c.8355C>T (p.Phe2785=) c.5952C>T (p.Phe1984=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237340558G>C	CA351195039	COL6A3	c.1003C>G c.7740C>G (p.Phe2580Leu) c.361C>G n.625C>G c.8358C>G (p.Phe2786Leu) c.6534C>G (p.Phe2178Leu) n.45C>G c.6537C>G (p.Phe2179Leu) n.4800C>G c.7758C>G (p.Phe2586Leu) c.7137C>G (p.Phe2379Leu) c.7857C>G (p.Phe2619Leu) c.8355C>G (p.Phe2785Leu) c.5952C>G (p.Phe1984Leu)
2	g.237340558G=	CA1337608613	COL6A3	c.1003C= c.7740C= (p.Phe2580=) c.361C= n.625C= c.8358C= (p.Phe2786=) c.6534C= (p.Phe2178=) n.45C= c.6537C= (p.Phe2179=) n.4800C= c.7758C= (p.Phe2586=) c.7137C= (p.Phe2379=) c.7857C= (p.Phe2619=) c.8355C= (p.Phe2785=) c.5952C= (p.Phe1984=)
2	g.237340558G>T	CA351195042	COL6A3	c.1003C>A c.7740C>A (p.Phe2580Leu) c.361C>A n.625C>A c.8358C>A (p.Phe2786Leu) c.6534C>A (p.Phe2178Leu) n.45C>A c.6537C>A (p.Phe2179Leu) n.4800C>A c.7758C>A (p.Phe2586Leu) c.7137C>A (p.Phe2379Leu) c.7857C>A (p.Phe2619Leu) c.8355C>A (p.Phe2785Leu) c.5952C>A (p.Phe1984Leu)	COSMIC
2	g.237340559A>C	CA351195049	COL6A3	c.1002T>G c.7739T>G (p.Phe2580Cys) c.360T>G n.624T>G c.8357T>G (p.Phe2786Cys) c.6533T>G (p.Phe2178Cys) n.44T>G c.6536T>G (p.Phe2179Cys) n.4799T>G c.7757T>G (p.Phe2586Cys) c.7136T>G (p.Phe2379Cys) c.7856T>G (p.Phe2619Cys) c.8354T>G (p.Phe2785Cys) c.5951T>G (p.Phe1984Cys)
2	g.237340559A>G	CA351195052	COL6A3	c.1002T>C c.7739T>C (p.Phe2580Ser) c.360T>C n.624T>C c.8357T>C (p.Phe2786Ser) c.6533T>C (p.Phe2178Ser) n.44T>C c.6536T>C (p.Phe2179Ser) n.4799T>C c.7757T>C (p.Phe2586Ser) c.7136T>C (p.Phe2379Ser) c.7856T>C (p.Phe2619Ser) c.8354T>C (p.Phe2785Ser) c.5951T>C (p.Phe1984Ser)	gnomAD v4
2	g.237340559A>T	CA351195054	COL6A3	c.1002T>A c.7739T>A (p.Phe2580Tyr) c.360T>A n.624T>A c.8357T>A (p.Phe2786Tyr) c.6533T>A (p.Phe2178Tyr) n.44T>A c.6536T>A (p.Phe2179Tyr) n.4799T>A c.7757T>A (p.Phe2586Tyr) c.7136T>A (p.Phe2379Tyr) c.7856T>A (p.Phe2619Tyr) c.8354T>A (p.Phe2785Tyr) c.5951T>A (p.Phe1984Tyr)
2	g.237340560A>C	CA351195058	COL6A3	c.1001T>G c.7738T>G (p.Phe2580Val) c.359T>G n.623T>G c.8356T>G (p.Phe2786Val) c.6532T>G (p.Phe2178Val) n.43T>G c.6535T>G (p.Phe2179Val) n.4798T>G c.7756T>G (p.Phe2586Val) c.7135T>G (p.Phe2379Val) c.7855T>G (p.Phe2619Val) c.8353T>G (p.Phe2785Val) c.5950T>G (p.Phe1984Val)	gnomAD v4
2	g.237340560A>G	CA351195060	COL6A3	c.1001T>C c.7738T>C (p.Phe2580Leu) c.359T>C n.623T>C c.8356T>C (p.Phe2786Leu) c.6532T>C (p.Phe2178Leu) n.43T>C c.6535T>C (p.Phe2179Leu) n.4798T>C c.7756T>C (p.Phe2586Leu) c.7135T>C (p.Phe2379Leu) c.7855T>C (p.Phe2619Leu) c.8353T>C (p.Phe2785Leu) c.5950T>C (p.Phe1984Leu)
2	g.237340560A>T	CA351195063	COL6A3	c.1001T>A c.7738T>A (p.Phe2580Ile) c.359T>A n.623T>A c.8356T>A (p.Phe2786Ile) c.6532T>A (p.Phe2178Ile) n.43T>A c.6535T>A (p.Phe2179Ile) n.4798T>A c.7756T>A (p.Phe2586Ile) c.7135T>A (p.Phe2379Ile) c.7855T>A (p.Phe2619Ile) c.8353T>A (p.Phe2785Ile) c.5950T>A (p.Phe1984Ile)
2	g.237340561G>A	CA431701495	COL6A3	c.1000C>T c.7737C>T (p.Thr2579=) c.358C>T n.622C>T c.8355C>T (p.Thr2785=) c.6531C>T (p.Thr2177=) n.42C>T c.6534C>T (p.Thr2178=) n.4797C>T c.7755C>T (p.Thr2585=) c.7134C>T (p.Thr2378=) c.7854C>T (p.Thr2618=) c.8352C>T (p.Thr2784=) c.5949C>T (p.Thr1983=)	gnomAD v4
2	g.237340561G>C	CA431701498	COL6A3	c.1000C>G c.7737C>G (p.Thr2579=) c.358C>G n.622C>G c.8355C>G (p.Thr2785=) c.6531C>G (p.Thr2177=) n.42C>G c.6534C>G (p.Thr2178=) n.4797C>G c.7755C>G (p.Thr2585=) c.7134C>G (p.Thr2378=) c.7854C>G (p.Thr2618=) c.8352C>G (p.Thr2784=) c.5949C>G (p.Thr1983=)
2	g.237340561G>T	CA431701500	COL6A3	c.1000C>A c.7737C>A (p.Thr2579=) c.358C>A n.622C>A c.8355C>A (p.Thr2785=) c.6531C>A (p.Thr2177=) n.42C>A c.6534C>A (p.Thr2178=) n.4797C>A c.7755C>A (p.Thr2585=) c.7134C>A (p.Thr2378=) c.7854C>A (p.Thr2618=) c.8352C>A (p.Thr2784=) c.5949C>A (p.Thr1983=)	gnomAD v4
2	g.237340562G>A	CA351195067	COL6A3	c.999C>T c.7736C>T (p.Thr2579Ile) c.357C>T n.621C>T c.8354C>T (p.Thr2785Ile) c.6530C>T (p.Thr2177Ile) n.41C>T c.6533C>T (p.Thr2178Ile) n.4796C>T c.7754C>T (p.Thr2585Ile) c.7133C>T (p.Thr2378Ile) c.7853C>T (p.Thr2618Ile) c.8351C>T (p.Thr2784Ile) c.5948C>T (p.Thr1983Ile)
2	g.237340562G>C	CA351195068	COL6A3	c.999C>G c.7736C>G (p.Thr2579Ser) c.357C>G n.621C>G c.8354C>G (p.Thr2785Ser) c.6530C>G (p.Thr2177Ser) n.41C>G c.6533C>G (p.Thr2178Ser) n.4796C>G c.7754C>G (p.Thr2585Ser) c.7133C>G (p.Thr2378Ser) c.7853C>G (p.Thr2618Ser) c.8351C>G (p.Thr2784Ser) c.5948C>G (p.Thr1983Ser)	dbSNP gnomAD v2
2	g.237340562G=	CA1337608619	COL6A3	c.999C= c.7736C= (p.Thr2579=) c.357C= n.621C= c.8354C= (p.Thr2785=) c.6530C= (p.Thr2177=) n.41C= c.6533C= (p.Thr2178=) n.4796C= c.7754C= (p.Thr2585=) c.7133C= (p.Thr2378=) c.7853C= (p.Thr2618=) c.8351C= (p.Thr2784=) c.5948C= (p.Thr1983=)
2	g.237340562G>T	CA351195070	COL6A3	c.999C>A c.7736C>A (p.Thr2579Asn) c.357C>A n.621C>A c.8354C>A (p.Thr2785Asn) c.6530C>A (p.Thr2177Asn) n.41C>A c.6533C>A (p.Thr2178Asn) n.4796C>A c.7754C>A (p.Thr2585Asn) c.7133C>A (p.Thr2378Asn) c.7853C>A (p.Thr2618Asn) c.8351C>A (p.Thr2784Asn) c.5948C>A (p.Thr1983Asn)
2	g.237340563T>A	CA351195072	COL6A3	c.998A>T c.7735A>T (p.Thr2579Ser) c.356A>T n.620A>T c.8353A>T (p.Thr2785Ser) c.6529A>T (p.Thr2177Ser) n.40A>T c.6532A>T (p.Thr2178Ser) n.4795A>T c.7753A>T (p.Thr2585Ser) c.7132A>T (p.Thr2378Ser) c.7852A>T (p.Thr2618Ser) c.8350A>T (p.Thr2784Ser) c.5947A>T (p.Thr1983Ser)
2	g.237340563T>C	CA2187573	COL6A3	c.998A>G c.7735A>G (p.Thr2579Ala) c.356A>G n.620A>G c.8353A>G (p.Thr2785Ala) c.6529A>G (p.Thr2177Ala) n.40A>G c.6532A>G (p.Thr2178Ala) n.4795A>G c.7753A>G (p.Thr2585Ala) c.7132A>G (p.Thr2378Ala) c.7852A>G (p.Thr2618Ala) c.8350A>G (p.Thr2784Ala) c.5947A>G (p.Thr1983Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237340563T>G	CA351195076	COL6A3	c.998A>C c.7735A>C (p.Thr2579Pro) c.356A>C n.620A>C c.8353A>C (p.Thr2785Pro) c.6529A>C (p.Thr2177Pro) n.40A>C c.6532A>C (p.Thr2178Pro) n.4795A>C c.7753A>C (p.Thr2585Pro) c.7132A>C (p.Thr2378Pro) c.7852A>C (p.Thr2618Pro) c.8350A>C (p.Thr2784Pro) c.5947A>C (p.Thr1983Pro)
2	g.237340563T=	CA1337608623	COL6A3	c.998A= c.7735A= (p.Thr2579=) c.356A= n.620A= c.8353A= (p.Thr2785=) c.6529A= (p.Thr2177=) n.40A= c.6532A= (p.Thr2178=) n.4795A= c.7753A= (p.Thr2585=) c.7132A= (p.Thr2378=) c.7852A= (p.Thr2618=) c.8350A= (p.Thr2784=) c.5947A= (p.Thr1983=)
2	g.237340564G>A	CA431701518	COL6A3	c.997C>T c.7734C>T (p.Tyr2578=) c.355C>T n.619C>T c.8352C>T (p.Tyr2784=) c.6528C>T (p.Tyr2176=) n.39C>T c.6531C>T (p.Tyr2177=) n.4794C>T c.7752C>T (p.Tyr2584=) c.7131C>T (p.Tyr2377=) c.7851C>T (p.Tyr2617=) c.8349C>T (p.Tyr2783=) c.5946C>T (p.Tyr1982=)	dbSNP gnomAD v2 gnomAD v4
2	g.237340564G>C	CA351195080	COL6A3	c.997C>G c.7734C>G (p.Tyr2578Ter) c.355C>G n.619C>G c.8352C>G (p.Tyr2784Ter) c.6528C>G (p.Tyr2176Ter) n.39C>G c.6531C>G (p.Tyr2177Ter) n.4794C>G c.7752C>G (p.Tyr2584Ter) c.7131C>G (p.Tyr2377Ter) c.7851C>G (p.Tyr2617Ter) c.8349C>G (p.Tyr2783Ter) c.5946C>G (p.Tyr1982Ter)
2	g.237340564G=	CA1337608626	COL6A3	c.997C= c.7734C= (p.Tyr2578=) c.355C= n.619C= c.8352C= (p.Tyr2784=) c.6528C= (p.Tyr2176=) n.39C= c.6531C= (p.Tyr2177=) n.4794C= c.7752C= (p.Tyr2584=) c.7131C= (p.Tyr2377=) c.7851C= (p.Tyr2617=) c.8349C= (p.Tyr2783=) c.5946C= (p.Tyr1982=)
2	g.237340564G>T	CA351195078	COL6A3	c.997C>A c.7734C>A (p.Tyr2578Ter) c.355C>A n.619C>A c.8352C>A (p.Tyr2784Ter) c.6528C>A (p.Tyr2176Ter) n.39C>A c.6531C>A (p.Tyr2177Ter) n.4794C>A c.7752C>A (p.Tyr2584Ter) c.7131C>A (p.Tyr2377Ter) c.7851C>A (p.Tyr2617Ter) c.8349C>A (p.Tyr2783Ter) c.5946C>A (p.Tyr1982Ter)
2	g.237340565T>A	CA351195082	COL6A3	c.996A>T c.7733A>T (p.Tyr2578Phe) c.354A>T n.618A>T c.8351A>T (p.Tyr2784Phe) c.6527A>T (p.Tyr2176Phe) n.38A>T c.6530A>T (p.Tyr2177Phe) n.4793A>T c.7751A>T (p.Tyr2584Phe) c.7130A>T (p.Tyr2377Phe) c.7850A>T (p.Tyr2617Phe) c.8348A>T (p.Tyr2783Phe) c.5945A>T (p.Tyr1982Phe)	ClinVar dbSNP
2	g.237340565T>C	CA351195084	COL6A3	c.996A>G c.7733A>G (p.Tyr2578Cys) c.354A>G n.618A>G c.8351A>G (p.Tyr2784Cys) c.6527A>G (p.Tyr2176Cys) n.38A>G c.6530A>G (p.Tyr2177Cys) n.4793A>G c.7751A>G (p.Tyr2584Cys) c.7130A>G (p.Tyr2377Cys) c.7850A>G (p.Tyr2617Cys) c.8348A>G (p.Tyr2783Cys) c.5945A>G (p.Tyr1982Cys)
2	g.237340565T>G	CA351195086	COL6A3	c.996A>C c.7733A>C (p.Tyr2578Ser) c.354A>C n.618A>C c.8351A>C (p.Tyr2784Ser) c.6527A>C (p.Tyr2176Ser) n.38A>C c.6530A>C (p.Tyr2177Ser) n.4793A>C c.7751A>C (p.Tyr2584Ser) c.7130A>C (p.Tyr2377Ser) c.7850A>C (p.Tyr2617Ser) c.8348A>C (p.Tyr2783Ser) c.5945A>C (p.Tyr1982Ser)
2	g.237340566A>C	CA351195088	COL6A3	c.995T>G c.7732T>G (p.Tyr2578Asp) c.353T>G n.617T>G c.8350T>G (p.Tyr2784Asp) c.6526T>G (p.Tyr2176Asp) n.37T>G c.6529T>G (p.Tyr2177Asp) n.4792T>G c.7750T>G (p.Tyr2584Asp) c.7129T>G (p.Tyr2377Asp) c.7849T>G (p.Tyr2617Asp) c.8347T>G (p.Tyr2783Asp) c.5944T>G (p.Tyr1982Asp)
2	g.237340566A>G	CA351195090	COL6A3	c.995T>C c.7732T>C (p.Tyr2578His) c.353T>C n.617T>C c.8350T>C (p.Tyr2784His) c.6526T>C (p.Tyr2176His) n.37T>C c.6529T>C (p.Tyr2177His) n.4792T>C c.7750T>C (p.Tyr2584His) c.7129T>C (p.Tyr2377His) c.7849T>C (p.Tyr2617His) c.8347T>C (p.Tyr2783His) c.5944T>C (p.Tyr1982His)
2	g.237340566A>T	CA351195092	COL6A3	c.995T>A c.7732T>A (p.Tyr2578Asn) c.353T>A n.617T>A c.8350T>A (p.Tyr2784Asn) c.6526T>A (p.Tyr2176Asn) n.37T>A c.6529T>A (p.Tyr2177Asn) n.4792T>A c.7750T>A (p.Tyr2584Asn) c.7129T>A (p.Tyr2377Asn) c.7849T>A (p.Tyr2617Asn) c.8347T>A (p.Tyr2783Asn) c.5944T>A (p.Tyr1982Asn)
2	g.237340567T>A	CA431701550	COL6A3	c.994A>T c.7731A>T (p.Val2577=) c.352A>T n.616A>T c.8349A>T (p.Val2783=) c.6525A>T (p.Val2175=) n.36A>T c.6528A>T (p.Val2176=) n.4791A>T c.7749A>T (p.Val2583=) c.7128A>T (p.Val2376=) c.7848A>T (p.Val2616=) c.8346A>T (p.Val2782=) c.5943A>T (p.Val1981=)
2	g.237340567T>C	CA431701554	COL6A3	c.994A>G c.7731A>G (p.Val2577=) c.352A>G n.616A>G c.8349A>G (p.Val2783=) c.6525A>G (p.Val2175=) n.36A>G c.6528A>G (p.Val2176=) n.4791A>G c.7749A>G (p.Val2583=) c.7128A>G (p.Val2376=) c.7848A>G (p.Val2616=) c.8346A>G (p.Val2782=) c.5943A>G (p.Val1981=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340567T>G	CA431701558	COL6A3	c.994A>C c.7731A>C (p.Val2577=) c.352A>C n.616A>C c.8349A>C (p.Val2783=) c.6525A>C (p.Val2175=) n.36A>C c.6528A>C (p.Val2176=) n.4791A>C c.7749A>C (p.Val2583=) c.7128A>C (p.Val2376=) c.7848A>C (p.Val2616=) c.8346A>C (p.Val2782=) c.5943A>C (p.Val1981=)
2	g.237340567T=	CA1337608629	COL6A3	c.994A= c.7731A= (p.Val2577=) c.352A= n.616A= c.8349A= (p.Val2783=) c.6525A= (p.Val2175=) n.36A= c.6528A= (p.Val2176=) n.4791A= c.7749A= (p.Val2583=) c.7128A= (p.Val2376=) c.7848A= (p.Val2616=) c.8346A= (p.Val2782=) c.5943A= (p.Val1981=)
2	g.237340568A=	CA1337608632	COL6A3	c.993T= c.7730T= (p.Val2577=) c.351T= n.615T= c.8348T= (p.Val2783=) c.6524T= (p.Val2175=) n.35T= c.6527T= (p.Val2176=) n.4790T= c.7748T= (p.Val2583=) c.7127T= (p.Val2376=) c.7847T= (p.Val2616=) c.8345T= (p.Val2782=) c.5942T= (p.Val1981=)
2	g.237340568A>C	CA351195098	COL6A3	c.993T>G c.7730T>G (p.Val2577Gly) c.351T>G n.615T>G c.8348T>G (p.Val2783Gly) c.6524T>G (p.Val2175Gly) n.35T>G c.6527T>G (p.Val2176Gly) n.4790T>G c.7748T>G (p.Val2583Gly) c.7127T>G (p.Val2376Gly) c.7847T>G (p.Val2616Gly) c.8345T>G (p.Val2782Gly) c.5942T>G (p.Val1981Gly)	dbSNP
2	g.237340568A>G	CA351195096	COL6A3	c.993T>C c.7730T>C (p.Val2577Ala) c.351T>C n.615T>C c.8348T>C (p.Val2783Ala) c.6524T>C (p.Val2175Ala) n.35T>C c.6527T>C (p.Val2176Ala) n.4790T>C c.7748T>C (p.Val2583Ala) c.7127T>C (p.Val2376Ala) c.7847T>C (p.Val2616Ala) c.8345T>C (p.Val2782Ala) c.5942T>C (p.Val1981Ala)	gnomAD v4
2	g.237340568A>T	CA351195094	COL6A3	c.993T>A c.7730T>A (p.Val2577Glu) c.351T>A n.615T>A c.8348T>A (p.Val2783Glu) c.6524T>A (p.Val2175Glu) n.35T>A c.6527T>A (p.Val2176Glu) n.4790T>A c.7748T>A (p.Val2583Glu) c.7127T>A (p.Val2376Glu) c.7847T>A (p.Val2616Glu) c.8345T>A (p.Val2782Glu) c.5942T>A (p.Val1981Glu)
2	g.237340569C>A	CA351195100	COL6A3	c.992G>T c.7729G>T (p.Val2577Leu) c.350G>T n.614G>T c.8347G>T (p.Val2783Leu) c.6523G>T (p.Val2175Leu) n.34G>T c.6526G>T (p.Val2176Leu) n.4789G>T c.7747G>T (p.Val2583Leu) c.7126G>T (p.Val2376Leu) c.7846G>T (p.Val2616Leu) c.8344G>T (p.Val2782Leu) c.5941G>T (p.Val1981Leu)	gnomAD v4
2	g.237340569C>G	CA351195102	COL6A3	c.992G>C c.7729G>C (p.Val2577Leu) c.350G>C n.614G>C c.8347G>C (p.Val2783Leu) c.6523G>C (p.Val2175Leu) n.34G>C c.6526G>C (p.Val2176Leu) n.4789G>C c.7747G>C (p.Val2583Leu) c.7126G>C (p.Val2376Leu) c.7846G>C (p.Val2616Leu) c.8344G>C (p.Val2782Leu) c.5941G>C (p.Val1981Leu)
2	g.237340569C>T	CA351195104	COL6A3	c.992G>A c.7729G>A (p.Val2577Ile) c.350G>A n.614G>A c.8347G>A (p.Val2783Ile) c.6523G>A (p.Val2175Ile) n.34G>A c.6526G>A (p.Val2176Ile) n.4789G>A c.7747G>A (p.Val2583Ile) c.7126G>A (p.Val2376Ile) c.7846G>A (p.Val2616Ile) c.8344G>A (p.Val2782Ile) c.5941G>A (p.Val1981Ile)	gnomAD v4
2	g.237340570C>A	CA351195106	COL6A3	c.991G>T c.7728G>T (p.Glu2576Asp) c.349G>T n.613G>T c.8346G>T (p.Glu2782Asp) c.6522G>T (p.Glu2174Asp) n.33G>T c.6525G>T (p.Glu2175Asp) n.4788G>T c.7746G>T (p.Glu2582Asp) c.7125G>T (p.Glu2375Asp) c.7845G>T (p.Glu2615Asp) c.8343G>T (p.Glu2781Asp) c.5940G>T (p.Glu1980Asp)
2	g.237340570C=	CA1337608635	COL6A3	c.991G= c.7728G= (p.Glu2576=) c.349G= n.613G= c.8346G= (p.Glu2782=) c.6522G= (p.Glu2174=) n.33G= c.6525G= (p.Glu2175=) n.4788G= c.7746G= (p.Glu2582=) c.7125G= (p.Glu2375=) c.7845G= (p.Glu2615=) c.8343G= (p.Glu2781=) c.5940G= (p.Glu1980=)
2	g.237340570C>G	CA351195107	COL6A3	c.991G>C c.7728G>C (p.Glu2576Asp) c.349G>C n.613G>C c.8346G>C (p.Glu2782Asp) c.6522G>C (p.Glu2174Asp) n.33G>C c.6525G>C (p.Glu2175Asp) n.4788G>C c.7746G>C (p.Glu2582Asp) c.7125G>C (p.Glu2375Asp) c.7845G>C (p.Glu2615Asp) c.8343G>C (p.Glu2781Asp) c.5940G>C (p.Glu1980Asp)
2	g.237340570C>T	CA202668	COL6A3	c.991G>A c.7728G>A (p.Glu2576=) c.349G>A n.613G>A c.8346G>A (p.Glu2782=) c.6522G>A (p.Glu2174=) n.33G>A c.6525G>A (p.Glu2175=) n.4788G>A c.7746G>A (p.Glu2582=) c.7125G>A (p.Glu2375=) c.7845G>A (p.Glu2615=) c.8343G>A (p.Glu2781=) c.5940G>A (p.Glu1980=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340571T>A	CA351195110	COL6A3	c.990A>T c.7727A>T (p.Glu2576Val) c.348A>T n.612A>T c.8345A>T (p.Glu2782Val) c.6521A>T (p.Glu2174Val) n.32A>T c.6524A>T (p.Glu2175Val) n.4787A>T c.7745A>T (p.Glu2582Val) c.7124A>T (p.Glu2375Val) c.7844A>T (p.Glu2615Val) c.8342A>T (p.Glu2781Val) c.5939A>T (p.Glu1980Val)
2	g.237340571T>C	CA351195114	COL6A3	c.990A>G c.7727A>G (p.Glu2576Gly) c.348A>G n.612A>G c.8345A>G (p.Glu2782Gly) c.6521A>G (p.Glu2174Gly) n.32A>G c.6524A>G (p.Glu2175Gly) n.4787A>G c.7745A>G (p.Glu2582Gly) c.7124A>G (p.Glu2375Gly) c.7844A>G (p.Glu2615Gly) c.8342A>G (p.Glu2781Gly) c.5939A>G (p.Glu1980Gly)
2	g.237340571T>G	CA351195112	COL6A3	c.990A>C c.7727A>C (p.Glu2576Ala) c.348A>C n.612A>C c.8345A>C (p.Glu2782Ala) c.6521A>C (p.Glu2174Ala) n.32A>C c.6524A>C (p.Glu2175Ala) n.4787A>C c.7745A>C (p.Glu2582Ala) c.7124A>C (p.Glu2375Ala) c.7844A>C (p.Glu2615Ala) c.8342A>C (p.Glu2781Ala) c.5939A>C (p.Glu1980Ala)
2	g.237340572C>A	CA351195117	COL6A3	c.989G>T c.7726G>T (p.Glu2576Ter) c.347G>T n.611G>T c.8344G>T (p.Glu2782Ter) c.6520G>T (p.Glu2174Ter) n.31G>T c.6523G>T (p.Glu2175Ter) n.4786G>T c.7744G>T (p.Glu2582Ter) c.7123G>T (p.Glu2375Ter) c.7843G>T (p.Glu2615Ter) c.8341G>T (p.Glu2781Ter) c.5938G>T (p.Glu1980Ter)
2	g.237340572C=	CA1337608640	COL6A3	c.989G= c.7726G= (p.Glu2576=) c.347G= n.611G= c.8344G= (p.Glu2782=) c.6520G= (p.Glu2174=) n.31G= c.6523G= (p.Glu2175=) n.4786G= c.7744G= (p.Glu2582=) c.7123G= (p.Glu2375=) c.7843G= (p.Glu2615=) c.8341G= (p.Glu2781=) c.5938G= (p.Glu1980=)
2	g.237340572C>G	CA351195118	COL6A3	c.989G>C c.7726G>C (p.Glu2576Gln) c.347G>C n.611G>C c.8344G>C (p.Glu2782Gln) c.6520G>C (p.Glu2174Gln) n.31G>C c.6523G>C (p.Glu2175Gln) n.4786G>C c.7744G>C (p.Glu2582Gln) c.7123G>C (p.Glu2375Gln) c.7843G>C (p.Glu2615Gln) c.8341G>C (p.Glu2781Gln) c.5938G>C (p.Glu1980Gln)
2	g.237340572C>T	CA244925	COL6A3	c.989G>A c.7726G>A (p.Glu2576Lys) c.347G>A n.611G>A c.8344G>A (p.Glu2782Lys) c.6520G>A (p.Glu2174Lys) n.31G>A c.6523G>A (p.Glu2175Lys) n.4786G>A c.7744G>A (p.Glu2582Lys) c.7123G>A (p.Glu2375Lys) c.7843G>A (p.Glu2615Lys) c.8341G>A (p.Glu2781Lys) c.5938G>A (p.Glu1980Lys)	ClinVar dbSNP
2	g.237340573C>A	CA351195122	COL6A3	c.988G>T c.7725G>T (p.Lys2575Asn) c.346G>T n.610G>T c.8343G>T (p.Lys2781Asn) c.6519G>T (p.Lys2173Asn) n.30G>T c.6522G>T (p.Lys2174Asn) n.4785G>T c.7743G>T (p.Lys2581Asn) c.7122G>T (p.Lys2374Asn) c.7842G>T (p.Lys2614Asn) c.8340G>T (p.Lys2780Asn) c.5937G>T (p.Lys1979Asn)
2	g.237340573C=	CA1337608645	COL6A3	c.988G= c.7725G= (p.Lys2575=) c.346G= n.610G= c.8343G= (p.Lys2781=) c.6519G= (p.Lys2173=) n.30G= c.6522G= (p.Lys2174=) n.4785G= c.7743G= (p.Lys2581=) c.7122G= (p.Lys2374=) c.7842G= (p.Lys2614=) c.8340G= (p.Lys2780=) c.5937G= (p.Lys1979=)
2	g.237340573C>G	CA351195124	COL6A3	c.988G>C c.7725G>C (p.Lys2575Asn) c.346G>C n.610G>C c.8343G>C (p.Lys2781Asn) c.6519G>C (p.Lys2173Asn) n.30G>C c.6522G>C (p.Lys2174Asn) n.4785G>C c.7743G>C (p.Lys2581Asn) c.7122G>C (p.Lys2374Asn) c.7842G>C (p.Lys2614Asn) c.8340G>C (p.Lys2780Asn) c.5937G>C (p.Lys1979Asn)
2	g.237340573C>T	CA2187574	COL6A3	c.988G>A c.7725G>A (p.Lys2575=) c.346G>A n.610G>A c.8343G>A (p.Lys2781=) c.6519G>A (p.Lys2173=) n.30G>A c.6522G>A (p.Lys2174=) n.4785G>A c.7743G>A (p.Lys2581=) c.7122G>A (p.Lys2374=) c.7842G>A (p.Lys2614=) c.8340G>A (p.Lys2780=) c.5937G>A (p.Lys1979=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237340574T>A	CA351195126	COL6A3	c.987A>T c.7724A>T (p.Lys2575Met) c.345A>T n.609A>T c.8342A>T (p.Lys2781Met) c.6518A>T (p.Lys2173Met) n.29A>T c.6521A>T (p.Lys2174Met) n.4784A>T c.7742A>T (p.Lys2581Met) c.7121A>T (p.Lys2374Met) c.7841A>T (p.Lys2614Met) c.8339A>T (p.Lys2780Met) c.5936A>T (p.Lys1979Met)
2	g.237340574T>C	CA351195127	COL6A3	c.987A>G c.7724A>G (p.Lys2575Arg) c.345A>G n.609A>G c.8342A>G (p.Lys2781Arg) c.6518A>G (p.Lys2173Arg) n.29A>G c.6521A>G (p.Lys2174Arg) n.4784A>G c.7742A>G (p.Lys2581Arg) c.7121A>G (p.Lys2374Arg) c.7841A>G (p.Lys2614Arg) c.8339A>G (p.Lys2780Arg) c.5936A>G (p.Lys1979Arg)	gnomAD v4
2	g.237340574T>G	CA351195128	COL6A3	c.987A>C c.7724A>C (p.Lys2575Thr) c.345A>C n.609A>C c.8342A>C (p.Lys2781Thr) c.6518A>C (p.Lys2173Thr) n.29A>C c.6521A>C (p.Lys2174Thr) n.4784A>C c.7742A>C (p.Lys2581Thr) c.7121A>C (p.Lys2374Thr) c.7841A>C (p.Lys2614Thr) c.8339A>C (p.Lys2780Thr) c.5936A>C (p.Lys1979Thr)
2	g.237340575T>A	CA351195129	COL6A3	c.986A>T c.7723A>T (p.Lys2575Ter) c.344A>T n.608A>T c.8341A>T (p.Lys2781Ter) c.6517A>T (p.Lys2173Ter) n.28A>T c.6520A>T (p.Lys2174Ter) n.4783A>T c.7741A>T (p.Lys2581Ter) c.7120A>T (p.Lys2374Ter) c.7840A>T (p.Lys2614Ter) c.8338A>T (p.Lys2780Ter) c.5935A>T (p.Lys1979Ter)
2	g.237340575T>C	CA351195130	COL6A3	c.986A>G c.7723A>G (p.Lys2575Glu) c.344A>G n.608A>G c.8341A>G (p.Lys2781Glu) c.6517A>G (p.Lys2173Glu) n.28A>G c.6520A>G (p.Lys2174Glu) n.4783A>G c.7741A>G (p.Lys2581Glu) c.7120A>G (p.Lys2374Glu) c.7840A>G (p.Lys2614Glu) c.8338A>G (p.Lys2780Glu) c.5935A>G (p.Lys1979Glu)	ClinVar dbSNP
2	g.237340575T>G	CA351195132	COL6A3	c.986A>C c.7723A>C (p.Lys2575Gln) c.344A>C n.608A>C c.8341A>C (p.Lys2781Gln) c.6517A>C (p.Lys2173Gln) n.28A>C c.6520A>C (p.Lys2174Gln) n.4783A>C c.7741A>C (p.Lys2581Gln) c.7120A>C (p.Lys2374Gln) c.7840A>C (p.Lys2614Gln) c.8338A>C (p.Lys2780Gln) c.5935A>C (p.Lys1979Gln)
2	g.237340575T=	CA1337608649	COL6A3	c.986A= c.7723A= (p.Lys2575=) c.344A= n.608A= c.8341A= (p.Lys2781=) c.6517A= (p.Lys2173=) n.28A= c.6520A= (p.Lys2174=) n.4783A= c.7741A= (p.Lys2581=) c.7120A= (p.Lys2374=) c.7840A= (p.Lys2614=) c.8338A= (p.Lys2780=) c.5935A= (p.Lys1979=)
2	g.237340576G>A	CA67835560	COL6A3	c.985C>T c.7722C>T (p.Ile2574=) c.343C>T n.607C>T c.8340C>T (p.Ile2780=) c.6516C>T (p.Ile2172=) n.27C>T c.6519C>T (p.Ile2173=) n.4782C>T c.7740C>T (p.Ile2580=) c.7119C>T (p.Ile2373=) c.7839C>T (p.Ile2613=) c.8337C>T (p.Ile2779=) c.5934C>T (p.Ile1978=)	dbSNP gnomAD v3 gnomAD v4
2	g.237340576G>C	CA351195135	COL6A3	c.985C>G c.7722C>G (p.Ile2574Met) c.343C>G n.607C>G c.8340C>G (p.Ile2780Met) c.6516C>G (p.Ile2172Met) n.27C>G c.6519C>G (p.Ile2173Met) n.4782C>G c.7740C>G (p.Ile2580Met) c.7119C>G (p.Ile2373Met) c.7839C>G (p.Ile2613Met) c.8337C>G (p.Ile2779Met) c.5934C>G (p.Ile1978Met)
2	g.237340576G=	CA1337608652	COL6A3	c.985C= c.7722C= (p.Ile2574=) c.343C= n.607C= c.8340C= (p.Ile2780=) c.6516C= (p.Ile2172=) n.27C= c.6519C= (p.Ile2173=) n.4782C= c.7740C= (p.Ile2580=) c.7119C= (p.Ile2373=) c.7839C= (p.Ile2613=) c.8337C= (p.Ile2779=) c.5934C= (p.Ile1978=)
2	g.237340576G>T	CA431701616	COL6A3	c.985C>A c.7722C>A (p.Ile2574=) c.343C>A n.607C>A c.8340C>A (p.Ile2780=) c.6516C>A (p.Ile2172=) n.27C>A c.6519C>A (p.Ile2173=) n.4782C>A c.7740C>A (p.Ile2580=) c.7119C>A (p.Ile2373=) c.7839C>A (p.Ile2613=) c.8337C>A (p.Ile2779=) c.5934C>A (p.Ile1978=)
2	g.237340577A>C	CA351195137	COL6A3	c.984T>G c.7721T>G (p.Ile2574Ser) c.342T>G n.606T>G c.8339T>G (p.Ile2780Ser) c.6515T>G (p.Ile2172Ser) n.26T>G c.6518T>G (p.Ile2173Ser) n.4781T>G c.7739T>G (p.Ile2580Ser) c.7118T>G (p.Ile2373Ser) c.7838T>G (p.Ile2613Ser) c.8336T>G (p.Ile2779Ser) c.5933T>G (p.Ile1978Ser)
2	g.237340577A>G	CA351195141	COL6A3	c.984T>C c.7721T>C (p.Ile2574Thr) c.342T>C n.606T>C c.8339T>C (p.Ile2780Thr) c.6515T>C (p.Ile2172Thr) n.26T>C c.6518T>C (p.Ile2173Thr) n.4781T>C c.7739T>C (p.Ile2580Thr) c.7118T>C (p.Ile2373Thr) c.7838T>C (p.Ile2613Thr) c.8336T>C (p.Ile2779Thr) c.5933T>C (p.Ile1978Thr)
2	g.237340577A>T	CA351195139	COL6A3	c.984T>A c.7721T>A (p.Ile2574Asn) c.342T>A n.606T>A c.8339T>A (p.Ile2780Asn) c.6515T>A (p.Ile2172Asn) n.26T>A c.6518T>A (p.Ile2173Asn) n.4781T>A c.7739T>A (p.Ile2580Asn) c.7118T>A (p.Ile2373Asn) c.7838T>A (p.Ile2613Asn) c.8336T>A (p.Ile2779Asn) c.5933T>A (p.Ile1978Asn)
2	g.237340578T>A	CA351195143	COL6A3	c.983A>T c.7720A>T (p.Ile2574Phe) c.341A>T n.605A>T c.8338A>T (p.Ile2780Phe) c.6514A>T (p.Ile2172Phe) n.25A>T c.6517A>T (p.Ile2173Phe) n.4780A>T c.7738A>T (p.Ile2580Phe) c.7117A>T (p.Ile2373Phe) c.7837A>T (p.Ile2613Phe) c.8335A>T (p.Ile2779Phe) c.5932A>T (p.Ile1978Phe)
2	g.237340578T>C	CA351195145	COL6A3	c.983A>G c.7720A>G (p.Ile2574Val) c.341A>G n.605A>G c.8338A>G (p.Ile2780Val) c.6514A>G (p.Ile2172Val) n.25A>G c.6517A>G (p.Ile2173Val) n.4780A>G c.7738A>G (p.Ile2580Val) c.7117A>G (p.Ile2373Val) c.7837A>G (p.Ile2613Val) c.8335A>G (p.Ile2779Val) c.5932A>G (p.Ile1978Val)	dbSNP gnomAD v3 gnomAD v4
2	g.237340578T>G	CA351195147	COL6A3	c.983A>C c.7720A>C (p.Ile2574Leu) c.341A>C n.605A>C c.8338A>C (p.Ile2780Leu) c.6514A>C (p.Ile2172Leu) n.25A>C c.6517A>C (p.Ile2173Leu) n.4780A>C c.7738A>C (p.Ile2580Leu) c.7117A>C (p.Ile2373Leu) c.7837A>C (p.Ile2613Leu) c.8335A>C (p.Ile2779Leu) c.5932A>C (p.Ile1978Leu)
2	g.237340578T=	CA1337608654	COL6A3	c.983A= c.7720A= (p.Ile2574=) c.341A= n.605A= c.8338A= (p.Ile2780=) c.6514A= (p.Ile2172=) n.25A= c.6517A= (p.Ile2173=) n.4780A= c.7738A= (p.Ile2580=) c.7117A= (p.Ile2373=) c.7837A= (p.Ile2613=) c.8335A= (p.Ile2779=) c.5932A= (p.Ile1978=)
2	g.237340579G>A	CA431701650	COL6A3	c.982C>T c.7719C>T (p.Asn2573=) c.340C>T n.604C>T c.8337C>T (p.Asn2779=) c.6513C>T (p.Asn2171=) n.24C>T c.6516C>T (p.Asn2172=) n.4779C>T c.7737C>T (p.Asn2579=) c.7116C>T (p.Asn2372=) c.7836C>T (p.Asn2612=) c.8334C>T (p.Asn2778=) c.5931C>T (p.Asn1977=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.237340579G>C	CA351195149	COL6A3	c.982C>G c.7719C>G (p.Asn2573Lys) c.340C>G n.604C>G c.8337C>G (p.Asn2779Lys) c.6513C>G (p.Asn2171Lys) n.24C>G c.6516C>G (p.Asn2172Lys) n.4779C>G c.7737C>G (p.Asn2579Lys) c.7116C>G (p.Asn2372Lys) c.7836C>G (p.Asn2612Lys) c.8334C>G (p.Asn2778Lys) c.5931C>G (p.Asn1977Lys)
2	g.237340579G=	CA1337608658	COL6A3	c.982C= c.7719C= (p.Asn2573=) c.340C= n.604C= c.8337C= (p.Asn2779=) c.6513C= (p.Asn2171=) n.24C= c.6516C= (p.Asn2172=) n.4779C= c.7737C= (p.Asn2579=) c.7116C= (p.Asn2372=) c.7836C= (p.Asn2612=) c.8334C= (p.Asn2778=) c.5931C= (p.Asn1977=)
2	g.237340579G>T	CA351195151	COL6A3	c.982C>A c.7719C>A (p.Asn2573Lys) c.340C>A n.604C>A c.8337C>A (p.Asn2779Lys) c.6513C>A (p.Asn2171Lys) n.24C>A c.6516C>A (p.Asn2172Lys) n.4779C>A c.7737C>A (p.Asn2579Lys) c.7116C>A (p.Asn2372Lys) c.7836C>A (p.Asn2612Lys) c.8334C>A (p.Asn2778Lys) c.5931C>A (p.Asn1977Lys)	ClinVar dbSNP
2	g.237340580T>A	CA351195158	COL6A3	c.981A>T c.7718A>T (p.Asn2573Ile) c.339A>T n.603A>T c.8336A>T (p.Asn2779Ile) c.6512A>T (p.Asn2171Ile) n.23A>T c.6515A>T (p.Asn2172Ile) n.4778A>T c.7736A>T (p.Asn2579Ile) c.7115A>T (p.Asn2372Ile) c.7835A>T (p.Asn2612Ile) c.8333A>T (p.Asn2778Ile) c.5930A>T (p.Asn1977Ile)
2	g.237340580T>C	CA351195159	COL6A3	c.981A>G c.7718A>G (p.Asn2573Ser) c.339A>G n.603A>G c.8336A>G (p.Asn2779Ser) c.6512A>G (p.Asn2171Ser) n.23A>G c.6515A>G (p.Asn2172Ser) n.4778A>G c.7736A>G (p.Asn2579Ser) c.7115A>G (p.Asn2372Ser) c.7835A>G (p.Asn2612Ser) c.8333A>G (p.Asn2778Ser) c.5930A>G (p.Asn1977Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340580T>G	CA351195162	COL6A3	c.981A>C c.7718A>C (p.Asn2573Thr) c.339A>C n.603A>C c.8336A>C (p.Asn2779Thr) c.6512A>C (p.Asn2171Thr) n.23A>C c.6515A>C (p.Asn2172Thr) n.4778A>C c.7736A>C (p.Asn2579Thr) c.7115A>C (p.Asn2372Thr) c.7835A>C (p.Asn2612Thr) c.8333A>C (p.Asn2778Thr) c.5930A>C (p.Asn1977Thr)	gnomAD v4
2	g.237340580T=	CA1337608665	COL6A3	c.981A= c.7718A= (p.Asn2573=) c.339A= n.603A= c.8336A= (p.Asn2779=) c.6512A= (p.Asn2171=) n.23A= c.6515A= (p.Asn2172=) n.4778A= c.7736A= (p.Asn2579=) c.7115A= (p.Asn2372=) c.7835A= (p.Asn2612=) c.8333A= (p.Asn2778=) c.5930A= (p.Asn1977=)
2	g.237340581T>A	CA351195164	COL6A3	c.980A>T c.7717A>T (p.Asn2573Tyr) c.338A>T n.602A>T c.8335A>T (p.Asn2779Tyr) c.6511A>T (p.Asn2171Tyr) n.22A>T c.6514A>T (p.Asn2172Tyr) n.4777A>T c.7735A>T (p.Asn2579Tyr) c.7114A>T (p.Asn2372Tyr) c.7834A>T (p.Asn2612Tyr) c.8332A>T (p.Asn2778Tyr) c.5929A>T (p.Asn1977Tyr)
2	g.237340581T>C	CA351195166	COL6A3	c.980A>G c.7717A>G (p.Asn2573Asp) c.338A>G n.602A>G c.8335A>G (p.Asn2779Asp) c.6511A>G (p.Asn2171Asp) n.22A>G c.6514A>G (p.Asn2172Asp) n.4777A>G c.7735A>G (p.Asn2579Asp) c.7114A>G (p.Asn2372Asp) c.7834A>G (p.Asn2612Asp) c.8332A>G (p.Asn2778Asp) c.5929A>G (p.Asn1977Asp)
2	g.237340581T>G	CA351195168	COL6A3	c.980A>C c.7717A>C (p.Asn2573His) c.338A>C n.602A>C c.8335A>C (p.Asn2779His) c.6511A>C (p.Asn2171His) n.22A>C c.6514A>C (p.Asn2172His) n.4777A>C c.7735A>C (p.Asn2579His) c.7114A>C (p.Asn2372His) c.7834A>C (p.Asn2612His) c.8332A>C (p.Asn2778His) c.5929A>C (p.Asn1977His)
2	g.237340582C>A	CA431701660	COL6A3	c.979G>T c.7716G>T (p.Val2572=) c.337G>T n.601G>T c.8334G>T (p.Val2778=) c.6510G>T (p.Val2170=) n.21G>T c.6513G>T (p.Val2171=) n.4776G>T c.7734G>T (p.Val2578=) c.7113G>T (p.Val2371=) c.7833G>T (p.Val2611=) c.8331G>T (p.Val2777=) c.5928G>T (p.Val1976=)
2	g.237340582C=	CA1337608669	COL6A3	c.979G= c.7716G= (p.Val2572=) c.337G= n.601G= c.8334G= (p.Val2778=) c.6510G= (p.Val2170=) n.21G= c.6513G= (p.Val2171=) n.4776G= c.7734G= (p.Val2578=) c.7113G= (p.Val2371=) c.7833G= (p.Val2611=) c.8331G= (p.Val2777=) c.5928G= (p.Val1976=)
2	g.237340582C>G	CA431701662	COL6A3	c.979G>C c.7716G>C (p.Val2572=) c.337G>C n.601G>C c.8334G>C (p.Val2778=) c.6510G>C (p.Val2170=) n.21G>C c.6513G>C (p.Val2171=) n.4776G>C c.7734G>C (p.Val2578=) c.7113G>C (p.Val2371=) c.7833G>C (p.Val2611=) c.8331G>C (p.Val2777=) c.5928G>C (p.Val1976=)
2	g.237340582C>T	CA431701664	COL6A3	c.979G>A c.7716G>A (p.Val2572=) c.337G>A n.601G>A c.8334G>A (p.Val2778=) c.6510G>A (p.Val2170=) n.21G>A c.6513G>A (p.Val2171=) n.4776G>A c.7734G>A (p.Val2578=) c.7113G>A (p.Val2371=) c.7833G>A (p.Val2611=) c.8331G>A (p.Val2777=) c.5928G>A (p.Val1976=)	dbSNP gnomAD v2 gnomAD v4
2	g.237340583A=	CA1337608672	COL6A3	c.978T= c.7715T= (p.Val2572=) c.336T= n.600T= c.8333T= (p.Val2778=) c.6509T= (p.Val2170=) n.20T= c.6512T= (p.Val2171=) n.4775T= c.7733T= (p.Val2578=) c.7112T= (p.Val2371=) c.7832T= (p.Val2611=) c.8330T= (p.Val2777=) c.5927T= (p.Val1976=)
2	g.237340583A>C	CA351195174	COL6A3	c.978T>G c.7715T>G (p.Val2572Gly) c.336T>G n.600T>G c.8333T>G (p.Val2778Gly) c.6509T>G (p.Val2170Gly) n.20T>G c.6512T>G (p.Val2171Gly) n.4775T>G c.7733T>G (p.Val2578Gly) c.7112T>G (p.Val2371Gly) c.7832T>G (p.Val2611Gly) c.8330T>G (p.Val2777Gly) c.5927T>G (p.Val1976Gly)	dbSNP
2	g.237340583A>G	CA351195172	COL6A3	c.978T>C c.7715T>C (p.Val2572Ala) c.336T>C n.600T>C c.8333T>C (p.Val2778Ala) c.6509T>C (p.Val2170Ala) n.20T>C c.6512T>C (p.Val2171Ala) n.4775T>C c.7733T>C (p.Val2578Ala) c.7112T>C (p.Val2371Ala) c.7832T>C (p.Val2611Ala) c.8330T>C (p.Val2777Ala) c.5927T>C (p.Val1976Ala)	COSMIC
2	g.237340583A>T	CA351195170	COL6A3	c.978T>A c.7715T>A (p.Val2572Glu) c.336T>A n.600T>A c.8333T>A (p.Val2778Glu) c.6509T>A (p.Val2170Glu) n.20T>A c.6512T>A (p.Val2171Glu) n.4775T>A c.7733T>A (p.Val2578Glu) c.7112T>A (p.Val2371Glu) c.7832T>A (p.Val2611Glu) c.8330T>A (p.Val2777Glu) c.5927T>A (p.Val1976Glu)
2	g.237340584C>A	CA351195176	COL6A3	c.977G>T c.7714G>T (p.Val2572Leu) c.335G>T n.599G>T c.8332G>T (p.Val2778Leu) c.6508G>T (p.Val2170Leu) n.19G>T c.6511G>T (p.Val2171Leu) n.4774G>T c.7732G>T (p.Val2578Leu) c.7111G>T (p.Val2371Leu) c.7831G>T (p.Val2611Leu) c.8329G>T (p.Val2777Leu) c.5926G>T (p.Val1976Leu)
2	g.237340584C>G	CA351195178	COL6A3	c.977G>C c.7714G>C (p.Val2572Leu) c.335G>C n.599G>C c.8332G>C (p.Val2778Leu) c.6508G>C (p.Val2170Leu) n.19G>C c.6511G>C (p.Val2171Leu) n.4774G>C c.7732G>C (p.Val2578Leu) c.7111G>C (p.Val2371Leu) c.7831G>C (p.Val2611Leu) c.8329G>C (p.Val2777Leu) c.5926G>C (p.Val1976Leu)
2	g.237340584C>T	CA351195179	COL6A3	c.977G>A c.7714G>A (p.Val2572Met) c.335G>A n.599G>A c.8332G>A (p.Val2778Met) c.6508G>A (p.Val2170Met) n.19G>A c.6511G>A (p.Val2171Met) n.4774G>A c.7732G>A (p.Val2578Met) c.7111G>A (p.Val2371Met) c.7831G>A (p.Val2611Met) c.8329G>A (p.Val2777Met) c.5926G>A (p.Val1976Met)	COSMIC
2	g.237340585C>A	CA351195180	COL6A3	c.976G>T c.7713G>T (p.Lys2571Asn) c.334G>T n.598G>T c.8331G>T (p.Lys2777Asn) c.6507G>T (p.Lys2169Asn) n.18G>T c.6510G>T (p.Lys2170Asn) n.4773G>T c.7731G>T (p.Lys2577Asn) c.7110G>T (p.Lys2370Asn) c.7830G>T (p.Lys2610Asn) c.8328G>T (p.Lys2776Asn) c.5925G>T (p.Lys1975Asn)
2	g.237340585C>G	CA351195181	COL6A3	c.976G>C c.7713G>C (p.Lys2571Asn) c.334G>C n.598G>C c.8331G>C (p.Lys2777Asn) c.6507G>C (p.Lys2169Asn) n.18G>C c.6510G>C (p.Lys2170Asn) n.4773G>C c.7731G>C (p.Lys2577Asn) c.7110G>C (p.Lys2370Asn) c.7830G>C (p.Lys2610Asn) c.8328G>C (p.Lys2776Asn) c.5925G>C (p.Lys1975Asn)
2	g.237340585C>T	CA431701693	COL6A3	c.976G>A c.7713G>A (p.Lys2571=) c.334G>A n.598G>A c.8331G>A (p.Lys2777=) c.6507G>A (p.Lys2169=) n.18G>A c.6510G>A (p.Lys2170=) n.4773G>A c.7731G>A (p.Lys2577=) c.7110G>A (p.Lys2370=) c.7830G>A (p.Lys2610=) c.8328G>A (p.Lys2776=) c.5925G>A (p.Lys1975=)
2	g.237340586T>A	CA351195183	COL6A3	c.975A>T c.7712A>T (p.Lys2571Met) c.333A>T n.597A>T c.8330A>T (p.Lys2777Met) c.6506A>T (p.Lys2169Met) n.17A>T c.6509A>T (p.Lys2170Met) n.4772A>T c.7730A>T (p.Lys2577Met) c.7109A>T (p.Lys2370Met) c.7829A>T (p.Lys2610Met) c.8327A>T (p.Lys2776Met) c.5924A>T (p.Lys1975Met)
2	g.237340586T>C	CA351195185	COL6A3	c.975A>G c.7712A>G (p.Lys2571Arg) c.333A>G n.597A>G c.8330A>G (p.Lys2777Arg) c.6506A>G (p.Lys2169Arg) n.17A>G c.6509A>G (p.Lys2170Arg) n.4772A>G c.7730A>G (p.Lys2577Arg) c.7109A>G (p.Lys2370Arg) c.7829A>G (p.Lys2610Arg) c.8327A>G (p.Lys2776Arg) c.5924A>G (p.Lys1975Arg)
2	g.237340586T>G	CA351195186	COL6A3	c.975A>C c.7712A>C (p.Lys2571Thr) c.333A>C n.597A>C c.8330A>C (p.Lys2777Thr) c.6506A>C (p.Lys2169Thr) n.17A>C c.6509A>C (p.Lys2170Thr) n.4772A>C c.7730A>C (p.Lys2577Thr) c.7109A>C (p.Lys2370Thr) c.7829A>C (p.Lys2610Thr) c.8327A>C (p.Lys2776Thr) c.5924A>C (p.Lys1975Thr)
2	g.237340587T>A	CA351195188	COL6A3	c.974A>T c.7711A>T (p.Lys2571Ter) c.332A>T n.596A>T c.8329A>T (p.Lys2777Ter) c.6505A>T (p.Lys2169Ter) n.16A>T c.6508A>T (p.Lys2170Ter) n.4771A>T c.7729A>T (p.Lys2577Ter) c.7108A>T (p.Lys2370Ter) c.7828A>T (p.Lys2610Ter) c.8326A>T (p.Lys2776Ter) c.5923A>T (p.Lys1975Ter)
2	g.237340587T>C	CA351195190	COL6A3	c.974A>G c.7711A>G (p.Lys2571Glu) c.332A>G n.596A>G c.8329A>G (p.Lys2777Glu) c.6505A>G (p.Lys2169Glu) n.16A>G c.6508A>G (p.Lys2170Glu) n.4771A>G c.7729A>G (p.Lys2577Glu) c.7108A>G (p.Lys2370Glu) c.7828A>G (p.Lys2610Glu) c.8326A>G (p.Lys2776Glu) c.5923A>G (p.Lys1975Glu)
2	g.237340587T>G	CA351195192	COL6A3	c.974A>C c.7711A>C (p.Lys2571Gln) c.332A>C n.596A>C c.8329A>C (p.Lys2777Gln) c.6505A>C (p.Lys2169Gln) n.16A>C c.6508A>C (p.Lys2170Gln) n.4771A>C c.7729A>C (p.Lys2577Gln) c.7108A>C (p.Lys2370Gln) c.7828A>C (p.Lys2610Gln) c.8326A>C (p.Lys2776Gln) c.5923A>C (p.Lys1975Gln)
2	g.237340588C>A	CA351195194	COL6A3	c.973G>T c.7710G>T (p.Arg2570Ser) c.331G>T n.595G>T c.8328G>T (p.Arg2776Ser) c.6504G>T (p.Arg2168Ser) n.15G>T c.6507G>T (p.Arg2169Ser) n.4770G>T c.7728G>T (p.Arg2576Ser) c.7107G>T (p.Arg2369Ser) c.7827G>T (p.Arg2609Ser) c.8325G>T (p.Arg2775Ser) c.5922G>T (p.Arg1974Ser)
2	g.237340588C=	CA1337608674	COL6A3	c.973G= c.7710G= (p.Arg2570=) c.331G= n.595G= c.8328G= (p.Arg2776=) c.6504G= (p.Arg2168=) n.15G= c.6507G= (p.Arg2169=) n.4770G= c.7728G= (p.Arg2576=) c.7107G= (p.Arg2369=) c.7827G= (p.Arg2609=) c.8325G= (p.Arg2775=) c.5922G= (p.Arg1974=)
2	g.237340588C>G	CA351195195	COL6A3	c.973G>C c.7710G>C (p.Arg2570Ser) c.331G>C n.595G>C c.8328G>C (p.Arg2776Ser) c.6504G>C (p.Arg2168Ser) n.15G>C c.6507G>C (p.Arg2169Ser) n.4770G>C c.7728G>C (p.Arg2576Ser) c.7107G>C (p.Arg2369Ser) c.7827G>C (p.Arg2609Ser) c.8325G>C (p.Arg2775Ser) c.5922G>C (p.Arg1974Ser)
2	g.237340588C>T	CA431701721	COL6A3	c.973G>A c.7710G>A (p.Arg2570=) c.331G>A n.595G>A c.8328G>A (p.Arg2776=) c.6504G>A (p.Arg2168=) n.15G>A c.6507G>A (p.Arg2169=) n.4770G>A c.7728G>A (p.Arg2576=) c.7107G>A (p.Arg2369=) c.7827G>A (p.Arg2609=) c.8325G>A (p.Arg2775=) c.5922G>A (p.Arg1974=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.237340589C>A	CA351195204	COL6A3	c.972G>T c.7709G>T (p.Arg2570Met) c.330G>T n.594G>T c.8327G>T (p.Arg2776Met) c.6503G>T (p.Arg2168Met) n.14G>T c.6506G>T (p.Arg2169Met) n.4769G>T c.7727G>T (p.Arg2576Met) c.7106G>T (p.Arg2369Met) c.7826G>T (p.Arg2609Met) c.8324G>T (p.Arg2775Met) c.5921G>T (p.Arg1974Met)
2	g.237340589C=	CA1337608679	COL6A3	c.972G= c.7709G= (p.Arg2570=) c.330G= n.594G= c.8327G= (p.Arg2776=) c.6503G= (p.Arg2168=) n.14G= c.6506G= (p.Arg2169=) n.4769G= c.7727G= (p.Arg2576=) c.7106G= (p.Arg2369=) c.7826G= (p.Arg2609=) c.8324G= (p.Arg2775=) c.5921G= (p.Arg1974=)
2	g.237340589C>G	CA351195203	COL6A3	c.972G>C c.7709G>C (p.Arg2570Thr) c.330G>C n.594G>C c.8327G>C (p.Arg2776Thr) c.6503G>C (p.Arg2168Thr) n.14G>C c.6506G>C (p.Arg2169Thr) n.4769G>C c.7727G>C (p.Arg2576Thr) c.7106G>C (p.Arg2369Thr) c.7826G>C (p.Arg2609Thr) c.8324G>C (p.Arg2775Thr) c.5921G>C (p.Arg1974Thr)
2	g.237340589C>T	CA351195198	COL6A3	c.972G>A c.7709G>A (p.Arg2570Lys) c.330G>A n.594G>A c.8327G>A (p.Arg2776Lys) c.6503G>A (p.Arg2168Lys) n.14G>A c.6506G>A (p.Arg2169Lys) n.4769G>A c.7727G>A (p.Arg2576Lys) c.7106G>A (p.Arg2369Lys) c.7826G>A (p.Arg2609Lys) c.8324G>A (p.Arg2775Lys) c.5921G>A (p.Arg1974Lys)	ClinVar dbSNP gnomAD v4
2	g.237340590T>A	CA351195209	COL6A3	c.971A>T c.7708A>T (p.Arg2570Trp) c.329A>T n.593A>T c.8326A>T (p.Arg2776Trp) c.6502A>T (p.Arg2168Trp) n.13A>T c.6505A>T (p.Arg2169Trp) n.4768A>T c.7726A>T (p.Arg2576Trp) c.7105A>T (p.Arg2369Trp) c.7825A>T (p.Arg2609Trp) c.8323A>T (p.Arg2775Trp) c.5920A>T (p.Arg1974Trp)
2	g.237340590T>C	CA351195207	COL6A3	c.971A>G c.7708A>G (p.Arg2570Gly) c.329A>G n.593A>G c.8326A>G (p.Arg2776Gly) c.6502A>G (p.Arg2168Gly) n.13A>G c.6505A>G (p.Arg2169Gly) n.4768A>G c.7726A>G (p.Arg2576Gly) c.7105A>G (p.Arg2369Gly) c.7825A>G (p.Arg2609Gly) c.8323A>G (p.Arg2775Gly) c.5920A>G (p.Arg1974Gly)
2	g.237340590T>G	CA431701749	COL6A3	c.971A>C c.7708A>C (p.Arg2570=) c.329A>C n.593A>C c.8326A>C (p.Arg2776=) c.6502A>C (p.Arg2168=) n.13A>C c.6505A>C (p.Arg2169=) n.4768A>C c.7726A>C (p.Arg2576=) c.7105A>C (p.Arg2369=) c.7825A>C (p.Arg2609=) c.8323A>C (p.Arg2775=) c.5920A>C (p.Arg1974=)
2	g.237340591G>A	CA431701755	COL6A3	c.970C>T c.7707C>T (p.Gly2569=) c.328C>T n.592C>T c.8325C>T (p.Gly2775=) c.6501C>T (p.Gly2167=) n.12C>T c.6504C>T (p.Gly2168=) n.4767C>T c.7725C>T (p.Gly2575=) c.7104C>T (p.Gly2368=) c.7824C>T (p.Gly2608=) c.8322C>T (p.Gly2774=) c.5919C>T (p.Gly1973=)	gnomAD v4
2	g.237340591G>C	CA431701757	COL6A3	c.970C>G c.7707C>G (p.Gly2569=) c.328C>G n.592C>G c.8325C>G (p.Gly2775=) c.6501C>G (p.Gly2167=) n.12C>G c.6504C>G (p.Gly2168=) n.4767C>G c.7725C>G (p.Gly2575=) c.7104C>G (p.Gly2368=) c.7824C>G (p.Gly2608=) c.8322C>G (p.Gly2774=) c.5919C>G (p.Gly1973=)
2	g.237340591G>T	CA431701760	COL6A3	c.970C>A c.7707C>A (p.Gly2569=) c.328C>A n.592C>A c.8325C>A (p.Gly2775=) c.6501C>A (p.Gly2167=) n.12C>A c.6504C>A (p.Gly2168=) n.4767C>A c.7725C>A (p.Gly2575=) c.7104C>A (p.Gly2368=) c.7824C>A (p.Gly2608=) c.8322C>A (p.Gly2774=) c.5919C>A (p.Gly1973=)
2	g.237340592C>A	CA351195211	COL6A3	c.969G>T c.7706G>T (p.Gly2569Val) c.327G>T n.591G>T c.8324G>T (p.Gly2775Val) c.6500G>T (p.Gly2167Val) n.11G>T c.6503G>T (p.Gly2168Val) n.4766G>T c.7724G>T (p.Gly2575Val) c.7103G>T (p.Gly2368Val) c.7823G>T (p.Gly2608Val) c.8321G>T (p.Gly2774Val) c.5918G>T (p.Gly1973Val)
2	g.237340592C>G	CA351195212	COL6A3	c.969G>C c.7706G>C (p.Gly2569Ala) c.327G>C n.591G>C c.8324G>C (p.Gly2775Ala) c.6500G>C (p.Gly2167Ala) n.11G>C c.6503G>C (p.Gly2168Ala) n.4766G>C c.7724G>C (p.Gly2575Ala) c.7103G>C (p.Gly2368Ala) c.7823G>C (p.Gly2608Ala) c.8321G>C (p.Gly2774Ala) c.5918G>C (p.Gly1973Ala)
2	g.237340592C>T	CA351195213	COL6A3	c.969G>A c.7706G>A (p.Gly2569Asp) c.327G>A n.591G>A c.8324G>A (p.Gly2775Asp) c.6500G>A (p.Gly2167Asp) n.11G>A c.6503G>A (p.Gly2168Asp) n.4766G>A c.7724G>A (p.Gly2575Asp) c.7103G>A (p.Gly2368Asp) c.7823G>A (p.Gly2608Asp) c.8321G>A (p.Gly2774Asp) c.5918G>A (p.Gly1973Asp)
2	g.237340593C>A	CA2187575	COL6A3	c.968G>T c.7705G>T (p.Gly2569Cys) c.326G>T n.590G>T c.8323G>T (p.Gly2775Cys) c.6499G>T (p.Gly2167Cys) n.10G>T c.6502G>T (p.Gly2168Cys) n.4765G>T c.7723G>T (p.Gly2575Cys) c.7102G>T (p.Gly2368Cys) c.7822G>T (p.Gly2608Cys) c.8320G>T (p.Gly2774Cys) c.5917G>T (p.Gly1973Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237340593C=	CA1337608683	COL6A3	c.968G= c.7705G= (p.Gly2569=) c.326G= n.590G= c.8323G= (p.Gly2775=) c.6499G= (p.Gly2167=) n.10G= c.6502G= (p.Gly2168=) n.4765G= c.7723G= (p.Gly2575=) c.7102G= (p.Gly2368=) c.7822G= (p.Gly2608=) c.8320G= (p.Gly2774=) c.5917G= (p.Gly1973=)
2	g.237340593C>G	CA351195214	COL6A3	c.968G>C c.7705G>C (p.Gly2569Arg) c.326G>C n.590G>C c.8323G>C (p.Gly2775Arg) c.6499G>C (p.Gly2167Arg) n.10G>C c.6502G>C (p.Gly2168Arg) n.4765G>C c.7723G>C (p.Gly2575Arg) c.7102G>C (p.Gly2368Arg) c.7822G>C (p.Gly2608Arg) c.8320G>C (p.Gly2774Arg) c.5917G>C (p.Gly1973Arg)
2	g.237340593C>T	CA351195215	COL6A3	c.968G>A c.7705G>A (p.Gly2569Ser) c.326G>A n.590G>A c.8323G>A (p.Gly2775Ser) c.6499G>A (p.Gly2167Ser) n.10G>A c.6502G>A (p.Gly2168Ser) n.4765G>A c.7723G>A (p.Gly2575Ser) c.7102G>A (p.Gly2368Ser) c.7822G>A (p.Gly2608Ser) c.8320G>A (p.Gly2774Ser) c.5917G>A (p.Gly1973Ser)	dbSNP
2	g.237340594A>C	CA351195216	COL6A3	c.967T>G c.7704T>G (p.Ile2568Met) c.325T>G n.589T>G c.8322T>G (p.Ile2774Met) c.6498T>G (p.Ile2166Met) n.9T>G c.6501T>G (p.Ile2167Met) n.4764T>G c.7722T>G (p.Ile2574Met) c.7101T>G (p.Ile2367Met) c.7821T>G (p.Ile2607Met) c.8319T>G (p.Ile2773Met) c.5916T>G (p.Ile1972Met)
2	g.237340594A>G	CA431701800	COL6A3	c.967T>C c.7704T>C (p.Ile2568=) c.325T>C n.589T>C c.8322T>C (p.Ile2774=) c.6498T>C (p.Ile2166=) n.9T>C c.6501T>C (p.Ile2167=) n.4764T>C c.7722T>C (p.Ile2574=) c.7101T>C (p.Ile2367=) c.7821T>C (p.Ile2607=) c.8319T>C (p.Ile2773=) c.5916T>C (p.Ile1972=)
2	g.237340594A>T	CA431701799	COL6A3	c.967T>A c.7704T>A (p.Ile2568=) c.325T>A n.589T>A c.8322T>A (p.Ile2774=) c.6498T>A (p.Ile2166=) n.9T>A c.6501T>A (p.Ile2167=) n.4764T>A c.7722T>A (p.Ile2574=) c.7101T>A (p.Ile2367=) c.7821T>A (p.Ile2607=) c.8319T>A (p.Ile2773=) c.5916T>A (p.Ile1972=)
2	g.237340595A>C	CA351195218	COL6A3	c.966T>G c.7703T>G (p.Ile2568Ser) c.324T>G n.588T>G c.8321T>G (p.Ile2774Ser) c.6497T>G (p.Ile2166Ser) n.8T>G c.6500T>G (p.Ile2167Ser) n.4763T>G c.7721T>G (p.Ile2574Ser) c.7100T>G (p.Ile2367Ser) c.7820T>G (p.Ile2607Ser) c.8318T>G (p.Ile2773Ser) c.5915T>G (p.Ile1972Ser)
2	g.237340595A>G	CA351195219	COL6A3	c.966T>C c.7703T>C (p.Ile2568Thr) c.324T>C n.588T>C c.8321T>C (p.Ile2774Thr) c.6497T>C (p.Ile2166Thr) n.8T>C c.6500T>C (p.Ile2167Thr) n.4763T>C c.7721T>C (p.Ile2574Thr) c.7100T>C (p.Ile2367Thr) c.7820T>C (p.Ile2607Thr) c.8318T>C (p.Ile2773Thr) c.5915T>C (p.Ile1972Thr)	ClinVar
2	g.237340595A>T	CA351195222	COL6A3	c.966T>A c.7703T>A (p.Ile2568Asn) c.324T>A n.588T>A c.8321T>A (p.Ile2774Asn) c.6497T>A (p.Ile2166Asn) n.8T>A c.6500T>A (p.Ile2167Asn) n.4763T>A c.7721T>A (p.Ile2574Asn) c.7100T>A (p.Ile2367Asn) c.7820T>A (p.Ile2607Asn) c.8318T>A (p.Ile2773Asn) c.5915T>A (p.Ile1972Asn)
2	g.237340596T>A	CA351195224	COL6A3	c.965A>T c.7702A>T (p.Ile2568Phe) c.323A>T n.587A>T c.8320A>T (p.Ile2774Phe) c.6496A>T (p.Ile2166Phe) n.7A>T c.6499A>T (p.Ile2167Phe) n.4762A>T c.7720A>T (p.Ile2574Phe) c.7099A>T (p.Ile2367Phe) c.7819A>T (p.Ile2607Phe) c.8317A>T (p.Ile2773Phe) c.5914A>T (p.Ile1972Phe)
2	g.237340596T>C	CA351195225	COL6A3	c.965A>G c.7702A>G (p.Ile2568Val) c.323A>G n.587A>G c.8320A>G (p.Ile2774Val) c.6496A>G (p.Ile2166Val) n.7A>G c.6499A>G (p.Ile2167Val) n.4762A>G c.7720A>G (p.Ile2574Val) c.7099A>G (p.Ile2367Val) c.7819A>G (p.Ile2607Val) c.8317A>G (p.Ile2773Val) c.5914A>G (p.Ile1972Val)	dbSNP gnomAD v2 gnomAD v4
2	g.237340596T>G	CA351195229	COL6A3	c.965A>C c.7702A>C (p.Ile2568Leu) c.323A>C n.587A>C c.8320A>C (p.Ile2774Leu) c.6496A>C (p.Ile2166Leu) n.7A>C c.6499A>C (p.Ile2167Leu) n.4762A>C c.7720A>C (p.Ile2574Leu) c.7099A>C (p.Ile2367Leu) c.7819A>C (p.Ile2607Leu) c.8317A>C (p.Ile2773Leu) c.5914A>C (p.Ile1972Leu)
2	g.237340596T=	CA1337608686	COL6A3	c.965A= c.7702A= (p.Ile2568=) c.323A= n.587A= c.8320A= (p.Ile2774=) c.6496A= (p.Ile2166=) n.7A= c.6499A= (p.Ile2167=) n.4762A= c.7720A= (p.Ile2574=) c.7099A= (p.Ile2367=) c.7819A= (p.Ile2607=) c.8317A= (p.Ile2773=) c.5914A= (p.Ile1972=)
2	g.237340597G>A	CA431701832	COL6A3	c.964C>T c.7701C>T (p.Gly2567=) c.322C>T n.586C>T c.8319C>T (p.Gly2773=) c.6495C>T (p.Gly2165=) n.6C>T c.6498C>T (p.Gly2166=) n.4761C>T c.7719C>T (p.Gly2573=) c.7098C>T (p.Gly2366=) c.7818C>T (p.Gly2606=) c.8316C>T (p.Gly2772=) c.5913C>T (p.Gly1971=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.237340597G>C	CA431701823	COL6A3	c.964C>G c.7701C>G (p.Gly2567=) c.322C>G n.586C>G c.8319C>G (p.Gly2773=) c.6495C>G (p.Gly2165=) n.6C>G c.6498C>G (p.Gly2166=) n.4761C>G c.7719C>G (p.Gly2573=) c.7098C>G (p.Gly2366=) c.7818C>G (p.Gly2606=) c.8316C>G (p.Gly2772=) c.5913C>G (p.Gly1971=)
2	g.237340597G=	CA1337608692	COL6A3	c.964C= c.7701C= (p.Gly2567=) c.322C= n.586C= c.8319C= (p.Gly2773=) c.6495C= (p.Gly2165=) n.6C= c.6498C= (p.Gly2166=) n.4761C= c.7719C= (p.Gly2573=) c.7098C= (p.Gly2366=) c.7818C= (p.Gly2606=) c.8316C= (p.Gly2772=) c.5913C= (p.Gly1971=)
2	g.237340597G>T	CA431701827	COL6A3	c.964C>A c.7701C>A (p.Gly2567=) c.322C>A n.586C>A c.8319C>A (p.Gly2773=) c.6495C>A (p.Gly2165=) n.6C>A c.6498C>A (p.Gly2166=) n.4761C>A c.7719C>A (p.Gly2573=) c.7098C>A (p.Gly2366=) c.7818C>A (p.Gly2606=) c.8316C>A (p.Gly2772=) c.5913C>A (p.Gly1971=)
2	g.237340598C>A	CA351195240	COL6A3	c.963G>T c.7700G>T (p.Gly2567Val) c.321G>T n.585G>T c.8318G>T (p.Gly2773Val) c.6494G>T (p.Gly2165Val) n.5G>T c.6497G>T (p.Gly2166Val) n.4760G>T c.7718G>T (p.Gly2573Val) c.7097G>T (p.Gly2366Val) c.7817G>T (p.Gly2606Val) c.8315G>T (p.Gly2772Val) c.5912G>T (p.Gly1971Val)
2	g.237340598C>G	CA351195249	COL6A3	c.963G>C c.7700G>C (p.Gly2567Ala) c.321G>C n.585G>C c.8318G>C (p.Gly2773Ala) c.6494G>C (p.Gly2165Ala) n.5G>C c.6497G>C (p.Gly2166Ala) n.4760G>C c.7718G>C (p.Gly2573Ala) c.7097G>C (p.Gly2366Ala) c.7817G>C (p.Gly2606Ala) c.8315G>C (p.Gly2772Ala) c.5912G>C (p.Gly1971Ala)
2	g.237340598C>T	CA351195246	COL6A3	c.963G>A c.7700G>A (p.Gly2567Asp) c.321G>A n.585G>A c.8318G>A (p.Gly2773Asp) c.6494G>A (p.Gly2165Asp) n.5G>A c.6497G>A (p.Gly2166Asp) n.4760G>A c.7718G>A (p.Gly2573Asp) c.7097G>A (p.Gly2366Asp) c.7817G>A (p.Gly2606Asp) c.8315G>A (p.Gly2772Asp) c.5912G>A (p.Gly1971Asp)	gnomAD v4
2	g.237340599C>A	CA351195254	COL6A3	c.962G>T c.7699G>T (p.Gly2567Cys) c.320G>T n.584G>T c.8317G>T (p.Gly2773Cys) c.6493G>T (p.Gly2165Cys) n.4G>T c.6496G>T (p.Gly2166Cys) n.4759G>T c.7717G>T (p.Gly2573Cys) c.7096G>T (p.Gly2366Cys) c.7816G>T (p.Gly2606Cys) c.8314G>T (p.Gly2772Cys) c.5911G>T (p.Gly1971Cys)
2	g.237340599C=	CA1337608696	COL6A3	c.962G= c.7699G= (p.Gly2567=) c.320G= n.584G= c.8317G= (p.Gly2773=) c.6493G= (p.Gly2165=) n.4G= c.6496G= (p.Gly2166=) n.4759G= c.7717G= (p.Gly2573=) c.7096G= (p.Gly2366=) c.7816G= (p.Gly2606=) c.8314G= (p.Gly2772=) c.5911G= (p.Gly1971=)
2	g.237340599C>G	CA351195261	COL6A3	c.962G>C c.7699G>C (p.Gly2567Arg) c.320G>C n.584G>C c.8317G>C (p.Gly2773Arg) c.6493G>C (p.Gly2165Arg) n.4G>C c.6496G>C (p.Gly2166Arg) n.4759G>C c.7717G>C (p.Gly2573Arg) c.7096G>C (p.Gly2366Arg) c.7816G>C (p.Gly2606Arg) c.8314G>C (p.Gly2772Arg) c.5911G>C (p.Gly1971Arg)
2	g.237340599C>T	CA2187576	COL6A3	c.962G>A c.7699G>A (p.Gly2567Ser) c.320G>A n.584G>A c.8317G>A (p.Gly2773Ser) c.6493G>A (p.Gly2165Ser) n.4G>A c.6496G>A (p.Gly2166Ser) n.4759G>A c.7717G>A (p.Gly2573Ser) c.7096G>A (p.Gly2366Ser) c.7816G>A (p.Gly2606Ser) c.8314G>A (p.Gly2772Ser) c.5911G>A (p.Gly1971Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237340600C>A	CA431701853	COL6A3	c.961G>T c.7698G>T (p.Leu2566=) c.319G>T n.583G>T c.8316G>T (p.Leu2772=) c.6492G>T (p.Leu2164=) n.3G>T c.6495G>T (p.Leu2165=) n.4758G>T c.7716G>T (p.Leu2572=) c.7095G>T (p.Leu2365=) c.7815G>T (p.Leu2605=) c.8313G>T (p.Leu2771=) c.5910G>T (p.Leu1970=)
2	g.237340600C>G	CA431701856	COL6A3	c.961G>C c.7698G>C (p.Leu2566=) c.319G>C n.583G>C c.8316G>C (p.Leu2772=) c.6492G>C (p.Leu2164=) n.3G>C c.6495G>C (p.Leu2165=) n.4758G>C c.7716G>C (p.Leu2572=) c.7095G>C (p.Leu2365=) c.7815G>C (p.Leu2605=) c.8313G>C (p.Leu2771=) c.5910G>C (p.Leu1970=)
2	g.237340600C>T	CA431701857	COL6A3	c.961G>A c.7698G>A (p.Leu2566=) c.319G>A n.583G>A c.8316G>A (p.Leu2772=) c.6492G>A (p.Leu2164=) n.3G>A c.6495G>A (p.Leu2165=) n.4758G>A c.7716G>A (p.Leu2572=) c.7095G>A (p.Leu2365=) c.7815G>A (p.Leu2605=) c.8313G>A (p.Leu2771=) c.5910G>A (p.Leu1970=)
2	g.237340601A>C	CA351195266	COL6A3	c.960T>G c.7697T>G (p.Leu2566Arg) c.318T>G n.582T>G c.8315T>G (p.Leu2772Arg) c.6491T>G (p.Leu2164Arg) n.2T>G c.6494T>G (p.Leu2165Arg) n.4757T>G c.7715T>G (p.Leu2572Arg) c.7094T>G (p.Leu2365Arg) c.7814T>G (p.Leu2605Arg) c.8312T>G (p.Leu2771Arg) c.5909T>G (p.Leu1970Arg)
2	g.237340601A>G	CA351195268	COL6A3	c.960T>C c.7697T>C (p.Leu2566Pro) c.318T>C n.582T>C c.8315T>C (p.Leu2772Pro) c.6491T>C (p.Leu2164Pro) n.2T>C c.6494T>C (p.Leu2165Pro) n.4757T>C c.7715T>C (p.Leu2572Pro) c.7094T>C (p.Leu2365Pro) c.7814T>C (p.Leu2605Pro) c.8312T>C (p.Leu2771Pro) c.5909T>C (p.Leu1970Pro)
2	g.237340601A>T	CA351195270	COL6A3	c.960T>A c.7697T>A (p.Leu2566Gln) c.318T>A n.582T>A c.8315T>A (p.Leu2772Gln) c.6491T>A (p.Leu2164Gln) n.2T>A c.6494T>A (p.Leu2165Gln) n.4757T>A c.7715T>A (p.Leu2572Gln) c.7094T>A (p.Leu2365Gln) c.7814T>A (p.Leu2605Gln) c.8312T>A (p.Leu2771Gln) c.5909T>A (p.Leu1970Gln)
2	g.237340601_237340602delinsAG	CA1337608698	COL6A3	c.959_960delinsCT c.7696_7697delinsCT (p.Leu2566=) c.317_318delinsCT n.581_582delinsCT c.8314_8315delinsCT (p.Leu2772=) c.6490_6491delinsCT (p.Leu2164=) n.1_2delinsCT c.6493_6494delinsCT (p.Leu2165=) n.4756_4757delinsCT c.7714_7715delinsCT (p.Leu2572=) c.7093_7094delinsCT (p.Leu2365=) c.7813_7814delinsCT (p.Leu2605=) c.8311_8312delinsCT (p.Leu2771=) c.5908_5909delinsCT (p.Leu1970=)
2	g.237340602G>A	CA431701867	COL6A3	c.959C>T c.7696C>T (p.Leu2566=) c.317C>T n.581C>T c.8314C>T (p.Leu2772=) c.6490C>T (p.Leu2164=) n.1C>T c.6493C>T (p.Leu2165=) n.4756C>T c.7714C>T (p.Leu2572=) c.7093C>T (p.Leu2365=) c.7813C>T (p.Leu2605=) c.8311C>T (p.Leu2771=) c.5908C>T (p.Leu1970=)	COSMIC
2	g.237340602G>C	CA351195273	COL6A3	c.959C>G c.7696C>G (p.Leu2566Val) c.317C>G n.581C>G c.8314C>G (p.Leu2772Val) c.6490C>G (p.Leu2164Val) n.1C>G c.6493C>G (p.Leu2165Val) n.4756C>G c.7714C>G (p.Leu2572Val) c.7093C>G (p.Leu2365Val) c.7813C>G (p.Leu2605Val) c.8311C>G (p.Leu2771Val) c.5908C>G (p.Leu1970Val)
2	g.237340602G>T	CA351195274	COL6A3	c.959C>A c.7696C>A (p.Leu2566Met) c.317C>A n.581C>A c.8314C>A (p.Leu2772Met) c.6490C>A (p.Leu2164Met) n.1C>A c.6493C>A (p.Leu2165Met) n.4756C>A c.7714C>A (p.Leu2572Met) c.7093C>A (p.Leu2365Met) c.7813C>A (p.Leu2605Met) c.8311C>A (p.Leu2771Met) c.5908C>A (p.Leu1970Met)
2	g.237340603del	CA2187577	COL6A3	c.959del c.7696del (p.Leu2566TrpfsTer7) c.317del n.581del c.8314del (p.Leu2772TrpfsTer7) c.6490del (p.Leu2164TrpfsTer7) c.6493del (p.Leu2165TrpfsTer7) n.4756del c.7714del (p.Leu2572TrpfsTer7) c.7093del (p.Leu2365TrpfsTer7) c.7813del (p.Leu2605TrpfsTer7) c.8311del (p.Leu2771TrpfsTer7) c.5908del (p.Leu1970TrpfsTer7)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237340603G>A	CA431701875	COL6A3	c.958C>T c.7695C>T (p.Val2565=) c.316C>T n.580C>T c.8313C>T (p.Val2771=) c.6489C>T (p.Val2163=) c.6492C>T (p.Val2164=) n.4755C>T c.7713C>T (p.Val2571=) c.7092C>T (p.Val2364=) c.7812C>T (p.Val2604=) c.8310C>T (p.Val2770=) c.5907C>T (p.Val1969=)
2	g.237340603G>C	CA431701878	COL6A3	c.958C>G c.7695C>G (p.Val2565=) c.316C>G n.580C>G c.8313C>G (p.Val2771=) c.6489C>G (p.Val2163=) c.6492C>G (p.Val2164=) n.4755C>G c.7713C>G (p.Val2571=) c.7092C>G (p.Val2364=) c.7812C>G (p.Val2604=) c.8310C>G (p.Val2770=) c.5907C>G (p.Val1969=)
2	g.237340603G>T	CA431701883	COL6A3	c.958C>A c.7695C>A (p.Val2565=) c.316C>A n.580C>A c.8313C>A (p.Val2771=) c.6489C>A (p.Val2163=) c.6492C>A (p.Val2164=) n.4755C>A c.7713C>A (p.Val2571=) c.7092C>A (p.Val2364=) c.7812C>A (p.Val2604=) c.8310C>A (p.Val2770=) c.5907C>A (p.Val1969=)
2	g.237340604A>C	CA351195277	COL6A3	c.957T>G c.7694T>G (p.Val2565Gly) c.315T>G n.579T>G c.8312T>G (p.Val2771Gly) c.6488T>G (p.Val2163Gly) c.6491T>G (p.Val2164Gly) n.4754T>G c.7712T>G (p.Val2571Gly) c.7091T>G (p.Val2364Gly) c.7811T>G (p.Val2604Gly) c.8309T>G (p.Val2770Gly) c.5906T>G (p.Val1969Gly)
2	g.237340604A>G	CA351195282	COL6A3	c.957T>C c.7694T>C (p.Val2565Ala) c.315T>C n.579T>C c.8312T>C (p.Val2771Ala) c.6488T>C (p.Val2163Ala) c.6491T>C (p.Val2164Ala) n.4754T>C c.7712T>C (p.Val2571Ala) c.7091T>C (p.Val2364Ala) c.7811T>C (p.Val2604Ala) c.8309T>C (p.Val2770Ala) c.5906T>C (p.Val1969Ala)
2	g.237340604A>T	CA351195283	COL6A3	c.957T>A c.7694T>A (p.Val2565Asp) c.315T>A n.579T>A c.8312T>A (p.Val2771Asp) c.6488T>A (p.Val2163Asp) c.6491T>A (p.Val2164Asp) n.4754T>A c.7712T>A (p.Val2571Asp) c.7091T>A (p.Val2364Asp) c.7811T>A (p.Val2604Asp) c.8309T>A (p.Val2770Asp) c.5906T>A (p.Val1969Asp)
2	g.237340605C>A	CA351195287	COL6A3	c.956G>T c.7693G>T (p.Val2565Phe) c.314G>T n.578G>T c.8311G>T (p.Val2771Phe) c.6487G>T (p.Val2163Phe) c.6490G>T (p.Val2164Phe) n.4753G>T c.7711G>T (p.Val2571Phe) c.7090G>T (p.Val2364Phe) c.7810G>T (p.Val2604Phe) c.8308G>T (p.Val2770Phe) c.5905G>T (p.Val1969Phe)	gnomAD v4
2	g.237340605C>G	CA351195289	COL6A3	c.956G>C c.7693G>C (p.Val2565Leu) c.314G>C n.578G>C c.8311G>C (p.Val2771Leu) c.6487G>C (p.Val2163Leu) c.6490G>C (p.Val2164Leu) n.4753G>C c.7711G>C (p.Val2571Leu) c.7090G>C (p.Val2364Leu) c.7810G>C (p.Val2604Leu) c.8308G>C (p.Val2770Leu) c.5905G>C (p.Val1969Leu)
2	g.237340605C>T	CA351195286	COL6A3	c.956G>A c.7693G>A (p.Val2565Ile) c.314G>A n.578G>A c.8311G>A (p.Val2771Ile) c.6487G>A (p.Val2163Ile) c.6490G>A (p.Val2164Ile) n.4753G>A c.7711G>A (p.Val2571Ile) c.7090G>A (p.Val2364Ile) c.7810G>A (p.Val2604Ile) c.8308G>A (p.Val2770Ile) c.5905G>A (p.Val1969Ile)	gnomAD v4
2	g.237340606C>A	CA2187578	COL6A3	c.955G>T c.7692G>T (p.Val2564=) c.313G>T n.577G>T c.8310G>T (p.Val2770=) c.6486G>T (p.Val2162=) c.6489G>T (p.Val2163=) n.4752G>T c.7710G>T (p.Val2570=) c.7089G>T (p.Val2363=) c.7809G>T (p.Val2603=) c.8307G>T (p.Val2769=) c.5904G>T (p.Val1968=)	dbSNP ExAC gnomAD v2
2	g.237340606C=	CA1337608703	COL6A3	c.955G= c.7692G= (p.Val2564=) c.313G= n.577G= c.8310G= (p.Val2770=) c.6486G= (p.Val2162=) c.6489G= (p.Val2163=) n.4752G= c.7710G= (p.Val2570=) c.7089G= (p.Val2363=) c.7809G= (p.Val2603=) c.8307G= (p.Val2769=) c.5904G= (p.Val1968=)
2	g.237340606C>G	CA431701902	COL6A3	c.955G>C c.7692G>C (p.Val2564=) c.313G>C n.577G>C c.8310G>C (p.Val2770=) c.6486G>C (p.Val2162=) c.6489G>C (p.Val2163=) n.4752G>C c.7710G>C (p.Val2570=) c.7089G>C (p.Val2363=) c.7809G>C (p.Val2603=) c.8307G>C (p.Val2769=) c.5904G>C (p.Val1968=)	ClinVar dbSNP gnomAD v4
2	g.237340606C>T	CA67835585	COL6A3	c.955G>A c.7692G>A (p.Val2564=) c.313G>A n.577G>A c.8310G>A (p.Val2770=) c.6486G>A (p.Val2162=) c.6489G>A (p.Val2163=) n.4752G>A c.7710G>A (p.Val2570=) c.7089G>A (p.Val2363=) c.7809G>A (p.Val2603=) c.8307G>A (p.Val2769=) c.5904G>A (p.Val1968=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340607A>C	CA351195293	COL6A3	c.954T>G c.7691T>G (p.Val2564Gly) c.312T>G n.576T>G c.8309T>G (p.Val2770Gly) c.6485T>G (p.Val2162Gly) c.6488T>G (p.Val2163Gly) n.4751T>G c.7709T>G (p.Val2570Gly) c.7088T>G (p.Val2363Gly) c.7808T>G (p.Val2603Gly) c.8306T>G (p.Val2769Gly) c.5903T>G (p.Val1968Gly)
2	g.237340607A>G	CA351195291	COL6A3	c.954T>C c.7691T>C (p.Val2564Ala) c.312T>C n.576T>C c.8309T>C (p.Val2770Ala) c.6485T>C (p.Val2162Ala) c.6488T>C (p.Val2163Ala) n.4751T>C c.7709T>C (p.Val2570Ala) c.7088T>C (p.Val2363Ala) c.7808T>C (p.Val2603Ala) c.8306T>C (p.Val2769Ala) c.5903T>C (p.Val1968Ala)
2	g.237340607A>T	CA351195292	COL6A3	c.954T>A c.7691T>A (p.Val2564Glu) c.312T>A n.576T>A c.8309T>A (p.Val2770Glu) c.6485T>A (p.Val2162Glu) c.6488T>A (p.Val2163Glu) n.4751T>A c.7709T>A (p.Val2570Glu) c.7088T>A (p.Val2363Glu) c.7808T>A (p.Val2603Glu) c.8306T>A (p.Val2769Glu) c.5903T>A (p.Val1968Glu)
2	g.237340608C>A	CA351195296	COL6A3	c.953G>T c.7690G>T (p.Val2564Leu) c.311G>T n.575G>T c.8308G>T (p.Val2770Leu) c.6484G>T (p.Val2162Leu) c.6487G>T (p.Val2163Leu) n.4750G>T c.7708G>T (p.Val2570Leu) c.7087G>T (p.Val2363Leu) c.7807G>T (p.Val2603Leu) c.8305G>T (p.Val2769Leu) c.5902G>T (p.Val1968Leu)
2	g.237340608C=	CA1337608708	COL6A3	c.953G= c.7690G= (p.Val2564=) c.311G= n.575G= c.8308G= (p.Val2770=) c.6484G= (p.Val2162=) c.6487G= (p.Val2163=) n.4750G= c.7708G= (p.Val2570=) c.7087G= (p.Val2363=) c.7807G= (p.Val2603=) c.8305G= (p.Val2769=) c.5902G= (p.Val1968=)
2	g.237340608C>G	CA351195297	COL6A3	c.953G>C c.7690G>C (p.Val2564Leu) c.311G>C n.575G>C c.8308G>C (p.Val2770Leu) c.6484G>C (p.Val2162Leu) c.6487G>C (p.Val2163Leu) n.4750G>C c.7708G>C (p.Val2570Leu) c.7087G>C (p.Val2363Leu) c.7807G>C (p.Val2603Leu) c.8305G>C (p.Val2769Leu) c.5902G>C (p.Val1968Leu)
2	g.237340608C>T	CA10607010	COL6A3	c.953G>A c.7690G>A (p.Val2564Met) c.311G>A n.575G>A c.8308G>A (p.Val2770Met) c.6484G>A (p.Val2162Met) c.6487G>A (p.Val2163Met) n.4750G>A c.7708G>A (p.Val2570Met) c.7087G>A (p.Val2363Met) c.7807G>A (p.Val2603Met) c.8305G>A (p.Val2769Met) c.5902G>A (p.Val1968Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.237340609G>A	CA2187579	COL6A3	c.952C>T c.7689C>T (p.Phe2563=) c.310C>T n.574C>T c.8307C>T (p.Phe2769=) c.6483C>T (p.Phe2161=) c.6486C>T (p.Phe2162=) n.4749C>T c.7707C>T (p.Phe2569=) c.7086C>T (p.Phe2362=) c.7806C>T (p.Phe2602=) c.8304C>T (p.Phe2768=) c.5901C>T (p.Phe1967=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237340609G>C	CA351195303	COL6A3	c.952C>G c.7689C>G (p.Phe2563Leu) c.310C>G n.574C>G c.8307C>G (p.Phe2769Leu) c.6483C>G (p.Phe2161Leu) c.6486C>G (p.Phe2162Leu) n.4749C>G c.7707C>G (p.Phe2569Leu) c.7086C>G (p.Phe2362Leu) c.7806C>G (p.Phe2602Leu) c.8304C>G (p.Phe2768Leu) c.5901C>G (p.Phe1967Leu)	gnomAD v4
2	g.237340609G=	CA1337608718	COL6A3	c.952C= c.7689C= (p.Phe2563=) c.310C= n.574C= c.8307C= (p.Phe2769=) c.6483C= (p.Phe2161=) c.6486C= (p.Phe2162=) n.4749C= c.7707C= (p.Phe2569=) c.7086C= (p.Phe2362=) c.7806C= (p.Phe2602=) c.8304C= (p.Phe2768=) c.5901C= (p.Phe1967=)
2	g.237340609G>T	CA351195306	COL6A3	c.952C>A c.7689C>A (p.Phe2563Leu) c.310C>A n.574C>A c.8307C>A (p.Phe2769Leu) c.6483C>A (p.Phe2161Leu) c.6486C>A (p.Phe2162Leu) n.4749C>A c.7707C>A (p.Phe2569Leu) c.7086C>A (p.Phe2362Leu) c.7806C>A (p.Phe2602Leu) c.8304C>A (p.Phe2768Leu) c.5901C>A (p.Phe1967Leu)
2	g.237340613_237340615del	CA2586971704	COL6A3	c.950_952del c.7687_7689del (p.Phe2563del) c.308_310del n.572_574del c.8305_8307del (p.Phe2769del) c.6481_6483del (p.Phe2161del) c.6484_6486del (p.Phe2162del) n.4747_4749del c.7705_7707del (p.Phe2569del) c.7084_7086del (p.Phe2362del) c.7804_7806del (p.Phe2602del) c.8302_8304del (p.Phe2768del) c.5899_5901del (p.Phe1967del)
2	g.237340610A>C	CA351195313	COL6A3	c.951T>G c.7688T>G (p.Phe2563Cys) c.309T>G n.573T>G c.8306T>G (p.Phe2769Cys) c.6482T>G (p.Phe2161Cys) c.6485T>G (p.Phe2162Cys) n.4748T>G c.7706T>G (p.Phe2569Cys) c.7085T>G (p.Phe2362Cys) c.7805T>G (p.Phe2602Cys) c.8303T>G (p.Phe2768Cys) c.5900T>G (p.Phe1967Cys)
2	g.237340610A>G	CA351195316	COL6A3	c.951T>C c.7688T>C (p.Phe2563Ser) c.309T>C n.573T>C c.8306T>C (p.Phe2769Ser) c.6482T>C (p.Phe2161Ser) c.6485T>C (p.Phe2162Ser) n.4748T>C c.7706T>C (p.Phe2569Ser) c.7085T>C (p.Phe2362Ser) c.7805T>C (p.Phe2602Ser) c.8303T>C (p.Phe2768Ser) c.5900T>C (p.Phe1967Ser)
2	g.237340610A>T	CA351195319	COL6A3	c.951T>A c.7688T>A (p.Phe2563Tyr) c.309T>A n.573T>A c.8306T>A (p.Phe2769Tyr) c.6482T>A (p.Phe2161Tyr) c.6485T>A (p.Phe2162Tyr) n.4748T>A c.7706T>A (p.Phe2569Tyr) c.7085T>A (p.Phe2362Tyr) c.7805T>A (p.Phe2602Tyr) c.8303T>A (p.Phe2768Tyr) c.5900T>A (p.Phe1967Tyr)
2	g.237340611A>C	CA351195323	COL6A3	c.950T>G c.7687T>G (p.Phe2563Val) c.308T>G n.572T>G c.8305T>G (p.Phe2769Val) c.6481T>G (p.Phe2161Val) c.6484T>G (p.Phe2162Val) n.4747T>G c.7705T>G (p.Phe2569Val) c.7084T>G (p.Phe2362Val) c.7804T>G (p.Phe2602Val) c.8302T>G (p.Phe2768Val) c.5899T>G (p.Phe1967Val)
2	g.237340611A>G	CA351195326	COL6A3	c.950T>C c.7687T>C (p.Phe2563Leu) c.308T>C n.572T>C c.8305T>C (p.Phe2769Leu) c.6481T>C (p.Phe2161Leu) c.6484T>C (p.Phe2162Leu) n.4747T>C c.7705T>C (p.Phe2569Leu) c.7084T>C (p.Phe2362Leu) c.7804T>C (p.Phe2602Leu) c.8302T>C (p.Phe2768Leu) c.5899T>C (p.Phe1967Leu)
2	g.237340611A>T	CA351195328	COL6A3	c.950T>A c.7687T>A (p.Phe2563Ile) c.308T>A n.572T>A c.8305T>A (p.Phe2769Ile) c.6481T>A (p.Phe2161Ile) c.6484T>A (p.Phe2162Ile) n.4747T>A c.7705T>A (p.Phe2569Ile) c.7084T>A (p.Phe2362Ile) c.7804T>A (p.Phe2602Ile) c.8302T>A (p.Phe2768Ile) c.5899T>A (p.Phe1967Ile)
2	g.237340612G>A	CA431701970	COL6A3	c.949C>T c.7686C>T (p.Phe2562=) c.307C>T n.571C>T c.8304C>T (p.Phe2768=) c.6480C>T (p.Phe2160=) c.6483C>T (p.Phe2161=) n.4746C>T c.7704C>T (p.Phe2568=) c.7083C>T (p.Phe2361=) c.7803C>T (p.Phe2601=) c.8301C>T (p.Phe2767=) c.5898C>T (p.Phe1966=)	dbSNP
2	g.237340612G>C	CA351195333	COL6A3	c.949C>G c.7686C>G (p.Phe2562Leu) c.307C>G n.571C>G c.8304C>G (p.Phe2768Leu) c.6480C>G (p.Phe2160Leu) c.6483C>G (p.Phe2161Leu) n.4746C>G c.7704C>G (p.Phe2568Leu) c.7083C>G (p.Phe2361Leu) c.7803C>G (p.Phe2601Leu) c.8301C>G (p.Phe2767Leu) c.5898C>G (p.Phe1966Leu)
2	g.237340612G=	CA1337608722	COL6A3	c.949C= c.7686C= (p.Phe2562=) c.307C= n.571C= c.8304C= (p.Phe2768=) c.6480C= (p.Phe2160=) c.6483C= (p.Phe2161=) n.4746C= c.7704C= (p.Phe2568=) c.7083C= (p.Phe2361=) c.7803C= (p.Phe2601=) c.8301C= (p.Phe2767=) c.5898C= (p.Phe1966=)
2	g.237340612G>T	CA351195337	COL6A3	c.949C>A c.7686C>A (p.Phe2562Leu) c.307C>A n.571C>A c.8304C>A (p.Phe2768Leu) c.6480C>A (p.Phe2160Leu) c.6483C>A (p.Phe2161Leu) n.4746C>A c.7704C>A (p.Phe2568Leu) c.7083C>A (p.Phe2361Leu) c.7803C>A (p.Phe2601Leu) c.8301C>A (p.Phe2767Leu) c.5898C>A (p.Phe1966Leu)
2	g.237340613A>C	CA351195341	COL6A3	c.948T>G c.7685T>G (p.Phe2562Cys) c.306T>G n.570T>G c.8303T>G (p.Phe2768Cys) c.6479T>G (p.Phe2160Cys) c.6482T>G (p.Phe2161Cys) n.4745T>G c.7703T>G (p.Phe2568Cys) c.7082T>G (p.Phe2361Cys) c.7802T>G (p.Phe2601Cys) c.8300T>G (p.Phe2767Cys) c.5897T>G (p.Phe1966Cys)
2	g.237340613A>G	CA351195345	COL6A3	c.948T>C c.7685T>C (p.Phe2562Ser) c.306T>C n.570T>C c.8303T>C (p.Phe2768Ser) c.6479T>C (p.Phe2160Ser) c.6482T>C (p.Phe2161Ser) n.4745T>C c.7703T>C (p.Phe2568Ser) c.7082T>C (p.Phe2361Ser) c.7802T>C (p.Phe2601Ser) c.8300T>C (p.Phe2767Ser) c.5897T>C (p.Phe1966Ser)
2	g.237340613A>T	CA351195355	COL6A3	c.948T>A c.7685T>A (p.Phe2562Tyr) c.306T>A n.570T>A c.8303T>A (p.Phe2768Tyr) c.6479T>A (p.Phe2160Tyr) c.6482T>A (p.Phe2161Tyr) n.4745T>A c.7703T>A (p.Phe2568Tyr) c.7082T>A (p.Phe2361Tyr) c.7802T>A (p.Phe2601Tyr) c.8300T>A (p.Phe2767Tyr) c.5897T>A (p.Phe1966Tyr)
2	g.237340614A>C	CA351195361	COL6A3	c.947T>G c.7684T>G (p.Phe2562Val) c.305T>G n.569T>G c.8302T>G (p.Phe2768Val) c.6478T>G (p.Phe2160Val) c.6481T>G (p.Phe2161Val) n.4744T>G c.7702T>G (p.Phe2568Val) c.7081T>G (p.Phe2361Val) c.7801T>G (p.Phe2601Val) c.8299T>G (p.Phe2767Val) c.5896T>G (p.Phe1966Val)
2	g.237340614A>G	CA351195364	COL6A3	c.947T>C c.7684T>C (p.Phe2562Leu) c.305T>C n.569T>C c.8302T>C (p.Phe2768Leu) c.6478T>C (p.Phe2160Leu) c.6481T>C (p.Phe2161Leu) n.4744T>C c.7702T>C (p.Phe2568Leu) c.7081T>C (p.Phe2361Leu) c.7801T>C (p.Phe2601Leu) c.8299T>C (p.Phe2767Leu) c.5896T>C (p.Phe1966Leu)
2	g.237340614A>T	CA351195367	COL6A3	c.947T>A c.7684T>A (p.Phe2562Ile) c.305T>A n.569T>A c.8302T>A (p.Phe2768Ile) c.6478T>A (p.Phe2160Ile) c.6481T>A (p.Phe2161Ile) n.4744T>A c.7702T>A (p.Phe2568Ile) c.7081T>A (p.Phe2361Ile) c.7801T>A (p.Phe2601Ile) c.8299T>A (p.Phe2767Ile) c.5896T>A (p.Phe1966Ile)
2	g.237340615G>A	CA431701996	COL6A3	c.946C>T c.7683C>T (p.Tyr2561=) c.304C>T n.568C>T c.8301C>T (p.Tyr2767=) c.6477C>T (p.Tyr2159=) c.6480C>T (p.Tyr2160=) n.4743C>T c.7701C>T (p.Tyr2567=) c.7080C>T (p.Tyr2360=) c.7800C>T (p.Tyr2600=) c.8298C>T (p.Tyr2766=) c.5895C>T (p.Tyr1965=)
2	g.237340615G>C	CA351195368	COL6A3	c.946C>G c.7683C>G (p.Tyr2561Ter) c.304C>G n.568C>G c.8301C>G (p.Tyr2767Ter) c.6477C>G (p.Tyr2159Ter) c.6480C>G (p.Tyr2160Ter) n.4743C>G c.7701C>G (p.Tyr2567Ter) c.7080C>G (p.Tyr2360Ter) c.7800C>G (p.Tyr2600Ter) c.8298C>G (p.Tyr2766Ter) c.5895C>G (p.Tyr1965Ter)
2	g.237340615G>T	CA351195369	COL6A3	c.946C>A c.7683C>A (p.Tyr2561Ter) c.304C>A n.568C>A c.8301C>A (p.Tyr2767Ter) c.6477C>A (p.Tyr2159Ter) c.6480C>A (p.Tyr2160Ter) n.4743C>A c.7701C>A (p.Tyr2567Ter) c.7080C>A (p.Tyr2360Ter) c.7800C>A (p.Tyr2600Ter) c.8298C>A (p.Tyr2766Ter) c.5895C>A (p.Tyr1965Ter)
2	g.237340616T>A	CA351195371	COL6A3	c.945A>T c.7682A>T (p.Tyr2561Phe) c.303A>T n.567A>T c.8300A>T (p.Tyr2767Phe) c.6476A>T (p.Tyr2159Phe) c.6479A>T (p.Tyr2160Phe) n.4742A>T c.7700A>T (p.Tyr2567Phe) c.7079A>T (p.Tyr2360Phe) c.7799A>T (p.Tyr2600Phe) c.8297A>T (p.Tyr2766Phe) c.5894A>T (p.Tyr1965Phe)
2	g.237340616T>C	CA67835598	COL6A3	c.945A>G c.7682A>G (p.Tyr2561Cys) c.303A>G n.567A>G c.8300A>G (p.Tyr2767Cys) c.6476A>G (p.Tyr2159Cys) c.6479A>G (p.Tyr2160Cys) n.4742A>G c.7700A>G (p.Tyr2567Cys) c.7079A>G (p.Tyr2360Cys) c.7799A>G (p.Tyr2600Cys) c.8297A>G (p.Tyr2766Cys) c.5894A>G (p.Tyr1965Cys)	dbSNP gnomAD v4
2	g.237340616T>G	CA351195375	COL6A3	c.945A>C c.7682A>C (p.Tyr2561Ser) c.303A>C n.567A>C c.8300A>C (p.Tyr2767Ser) c.6476A>C (p.Tyr2159Ser) c.6479A>C (p.Tyr2160Ser) n.4742A>C c.7700A>C (p.Tyr2567Ser) c.7079A>C (p.Tyr2360Ser) c.7799A>C (p.Tyr2600Ser) c.8297A>C (p.Tyr2766Ser) c.5894A>C (p.Tyr1965Ser)
2	g.237340616T=	CA1337608724	COL6A3	c.945A= c.7682A= (p.Tyr2561=) c.303A= n.567A= c.8300A= (p.Tyr2767=) c.6476A= (p.Tyr2159=) c.6479A= (p.Tyr2160=) n.4742A= c.7700A= (p.Tyr2567=) c.7079A= (p.Tyr2360=) c.7799A= (p.Tyr2600=) c.8297A= (p.Tyr2766=) c.5894A= (p.Tyr1965=)
2	g.237340617A>C	CA351195386	COL6A3	c.944T>G c.7681T>G (p.Tyr2561Asp) c.302T>G n.566T>G c.8299T>G (p.Tyr2767Asp) c.6475T>G (p.Tyr2159Asp) c.6478T>G (p.Tyr2160Asp) n.4741T>G c.7699T>G (p.Tyr2567Asp) c.7078T>G (p.Tyr2360Asp) c.7798T>G (p.Tyr2600Asp) c.8296T>G (p.Tyr2766Asp) c.5893T>G (p.Tyr1965Asp)
2	g.237340617A>G	CA351195383	COL6A3	c.944T>C c.7681T>C (p.Tyr2561His) c.302T>C n.566T>C c.8299T>C (p.Tyr2767His) c.6475T>C (p.Tyr2159His) c.6478T>C (p.Tyr2160His) n.4741T>C c.7699T>C (p.Tyr2567His) c.7078T>C (p.Tyr2360His) c.7798T>C (p.Tyr2600His) c.8296T>C (p.Tyr2766His) c.5893T>C (p.Tyr1965His)	gnomAD v4
2	g.237340617A>T	CA351195381	COL6A3	c.944T>A c.7681T>A (p.Tyr2561Asn) c.302T>A n.566T>A c.8299T>A (p.Tyr2767Asn) c.6475T>A (p.Tyr2159Asn) c.6478T>A (p.Tyr2160Asn) n.4741T>A c.7699T>A (p.Tyr2567Asn) c.7078T>A (p.Tyr2360Asn) c.7798T>A (p.Tyr2600Asn) c.8296T>A (p.Tyr2766Asn) c.5893T>A (p.Tyr1965Asn)
2	g.237340618G>A	CA431702036	COL6A3	c.943C>T c.7680C>T (p.Gly2560=) c.301C>T n.565C>T c.8298C>T (p.Gly2766=) c.6474C>T (p.Gly2158=) c.6477C>T (p.Gly2159=) n.4740C>T c.7698C>T (p.Gly2566=) c.7077C>T (p.Gly2359=) c.7797C>T (p.Gly2599=) c.8295C>T (p.Gly2765=) c.5892C>T (p.Gly1964=)
2	g.237340618G>C	CA431702034	COL6A3	c.943C>G c.7680C>G (p.Gly2560=) c.301C>G n.565C>G c.8298C>G (p.Gly2766=) c.6474C>G (p.Gly2158=) c.6477C>G (p.Gly2159=) n.4740C>G c.7698C>G (p.Gly2566=) c.7077C>G (p.Gly2359=) c.7797C>G (p.Gly2599=) c.8295C>G (p.Gly2765=) c.5892C>G (p.Gly1964=)
2	g.237340618G>T	CA431702035	COL6A3	c.943C>A c.7680C>A (p.Gly2560=) c.301C>A n.565C>A c.8298C>A (p.Gly2766=) c.6474C>A (p.Gly2158=) c.6477C>A (p.Gly2159=) n.4740C>A c.7698C>A (p.Gly2566=) c.7077C>A (p.Gly2359=) c.7797C>A (p.Gly2599=) c.8295C>A (p.Gly2765=) c.5892C>A (p.Gly1964=)
2	g.237340619C>A	CA351195392	COL6A3	c.942G>T c.7679G>T (p.Gly2560Val) c.300G>T n.564G>T c.8297G>T (p.Gly2766Val) c.6473G>T (p.Gly2158Val) c.6476G>T (p.Gly2159Val) n.4739G>T c.7697G>T (p.Gly2566Val) c.7076G>T (p.Gly2359Val) c.7796G>T (p.Gly2599Val) c.8294G>T (p.Gly2765Val) c.5891G>T (p.Gly1964Val)
2	g.237340619C=	CA1337608727	COL6A3	c.942G= c.7679G= (p.Gly2560=) c.300G= n.564G= c.8297G= (p.Gly2766=) c.6473G= (p.Gly2158=) c.6476G= (p.Gly2159=) n.4739G= c.7697G= (p.Gly2566=) c.7076G= (p.Gly2359=) c.7796G= (p.Gly2599=) c.8294G= (p.Gly2765=) c.5891G= (p.Gly1964=)
2	g.237340619C>G	CA351195396	COL6A3	c.942G>C c.7679G>C (p.Gly2560Ala) c.300G>C n.564G>C c.8297G>C (p.Gly2766Ala) c.6473G>C (p.Gly2158Ala) c.6476G>C (p.Gly2159Ala) n.4739G>C c.7697G>C (p.Gly2566Ala) c.7076G>C (p.Gly2359Ala) c.7796G>C (p.Gly2599Ala) c.8294G>C (p.Gly2765Ala) c.5891G>C (p.Gly1964Ala)
2	g.237340619C>T	CA67835601	COL6A3	c.942G>A c.7679G>A (p.Gly2560Asp) c.300G>A n.564G>A c.8297G>A (p.Gly2766Asp) c.6473G>A (p.Gly2158Asp) c.6476G>A (p.Gly2159Asp) n.4739G>A c.7697G>A (p.Gly2566Asp) c.7076G>A (p.Gly2359Asp) c.7796G>A (p.Gly2599Asp) c.8294G>A (p.Gly2765Asp) c.5891G>A (p.Gly1964Asp)	dbSNP gnomAD v4
2	g.237340620C>A	CA351195403	COL6A3	c.941G>T c.7678G>T (p.Gly2560Cys) c.299G>T n.563G>T c.8296G>T (p.Gly2766Cys) c.6472G>T (p.Gly2158Cys) c.6475G>T (p.Gly2159Cys) n.4738G>T c.7696G>T (p.Gly2566Cys) c.7075G>T (p.Gly2359Cys) c.7795G>T (p.Gly2599Cys) c.8293G>T (p.Gly2765Cys) c.5890G>T (p.Gly1964Cys)
2	g.237340620C=	CA1337608729	COL6A3	c.941G= c.7678G= (p.Gly2560=) c.299G= n.563G= c.8296G= (p.Gly2766=) c.6472G= (p.Gly2158=) c.6475G= (p.Gly2159=) n.4738G= c.7696G= (p.Gly2566=) c.7075G= (p.Gly2359=) c.7795G= (p.Gly2599=) c.8293G= (p.Gly2765=) c.5890G= (p.Gly1964=)
2	g.237340620C>G	CA351195409	COL6A3	c.941G>C c.7678G>C (p.Gly2560Arg) c.299G>C n.563G>C c.8296G>C (p.Gly2766Arg) c.6472G>C (p.Gly2158Arg) c.6475G>C (p.Gly2159Arg) n.4738G>C c.7696G>C (p.Gly2566Arg) c.7075G>C (p.Gly2359Arg) c.7795G>C (p.Gly2599Arg) c.8293G>C (p.Gly2765Arg) c.5890G>C (p.Gly1964Arg)
2	g.237340620C>T	CA351195412	COL6A3	c.941G>A c.7678G>A (p.Gly2560Ser) c.299G>A n.563G>A c.8296G>A (p.Gly2766Ser) c.6472G>A (p.Gly2158Ser) c.6475G>A (p.Gly2159Ser) n.4738G>A c.7696G>A (p.Gly2566Ser) c.7075G>A (p.Gly2359Ser) c.7795G>A (p.Gly2599Ser) c.8293G>A (p.Gly2765Ser) c.5890G>A (p.Gly1964Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.237340621C>A	CA351195420	COL6A3	c.940G>T c.7677G>T (p.Lys2559Asn) c.298G>T n.562G>T c.8295G>T (p.Lys2765Asn) c.6471G>T (p.Lys2157Asn) c.6474G>T (p.Lys2158Asn) n.4737G>T c.7695G>T (p.Lys2565Asn) c.7074G>T (p.Lys2358Asn) c.7794G>T (p.Lys2598Asn) c.8292G>T (p.Lys2764Asn) c.5889G>T (p.Lys1963Asn)
2	g.237340621C=	CA1337608733	COL6A3	c.940G= c.7677G= (p.Lys2559=) c.298G= n.562G= c.8295G= (p.Lys2765=) c.6471G= (p.Lys2157=) c.6474G= (p.Lys2158=) n.4737G= c.7695G= (p.Lys2565=) c.7074G= (p.Lys2358=) c.7794G= (p.Lys2598=) c.8292G= (p.Lys2764=) c.5889G= (p.Lys1963=)
2	g.237340621C>G	CA351195422	COL6A3	c.940G>C c.7677G>C (p.Lys2559Asn) c.298G>C n.562G>C c.8295G>C (p.Lys2765Asn) c.6471G>C (p.Lys2157Asn) c.6474G>C (p.Lys2158Asn) n.4737G>C c.7695G>C (p.Lys2565Asn) c.7074G>C (p.Lys2358Asn) c.7794G>C (p.Lys2598Asn) c.8292G>C (p.Lys2764Asn) c.5889G>C (p.Lys1963Asn)
2	g.237340621C>T	CA2187580	COL6A3	c.940G>A c.7677G>A (p.Lys2559=) c.298G>A n.562G>A c.8295G>A (p.Lys2765=) c.6471G>A (p.Lys2157=) c.6474G>A (p.Lys2158=) n.4737G>A c.7695G>A (p.Lys2565=) c.7074G>A (p.Lys2358=) c.7794G>A (p.Lys2598=) c.8292G>A (p.Lys2764=) c.5889G>A (p.Lys1963=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237340622T>A	CA351195425	COL6A3	c.939A>T c.7676A>T (p.Lys2559Met) c.297A>T n.561A>T c.8294A>T (p.Lys2765Met) c.6470A>T (p.Lys2157Met) c.6473A>T (p.Lys2158Met) n.4736A>T c.7694A>T (p.Lys2565Met) c.7073A>T (p.Lys2358Met) c.7793A>T (p.Lys2598Met) c.8291A>T (p.Lys2764Met) c.5888A>T (p.Lys1963Met)	dbSNP gnomAD v3 gnomAD v4
2	g.237340622T>C	CA351195428	COL6A3	c.939A>G c.7676A>G (p.Lys2559Arg) c.297A>G n.561A>G c.8294A>G (p.Lys2765Arg) c.6470A>G (p.Lys2157Arg) c.6473A>G (p.Lys2158Arg) n.4736A>G c.7694A>G (p.Lys2565Arg) c.7073A>G (p.Lys2358Arg) c.7793A>G (p.Lys2598Arg) c.8291A>G (p.Lys2764Arg) c.5888A>G (p.Lys1963Arg)
2	g.237340622T>G	CA351195431	COL6A3	c.939A>C c.7676A>C (p.Lys2559Thr) c.297A>C n.561A>C c.8294A>C (p.Lys2765Thr) c.6470A>C (p.Lys2157Thr) c.6473A>C (p.Lys2158Thr) n.4736A>C c.7694A>C (p.Lys2565Thr) c.7073A>C (p.Lys2358Thr) c.7793A>C (p.Lys2598Thr) c.8291A>C (p.Lys2764Thr) c.5888A>C (p.Lys1963Thr)	gnomAD v4
2	g.237340622T=	CA1337608735	COL6A3	c.939A= c.7676A= (p.Lys2559=) c.297A= n.561A= c.8294A= (p.Lys2765=) c.6470A= (p.Lys2157=) c.6473A= (p.Lys2158=) n.4736A= c.7694A= (p.Lys2565=) c.7073A= (p.Lys2358=) c.7793A= (p.Lys2598=) c.8291A= (p.Lys2764=) c.5888A= (p.Lys1963=)
2	g.237340623T>A	CA351195443	COL6A3	c.938A>T c.7675A>T (p.Lys2559Ter) c.296A>T n.560A>T c.8293A>T (p.Lys2765Ter) c.6469A>T (p.Lys2157Ter) c.6472A>T (p.Lys2158Ter) n.4735A>T c.7693A>T (p.Lys2565Ter) c.7072A>T (p.Lys2358Ter) c.7792A>T (p.Lys2598Ter) c.8290A>T (p.Lys2764Ter) c.5887A>T (p.Lys1963Ter)
2	g.237340623T>C	CA351195446	COL6A3	c.938A>G c.7675A>G (p.Lys2559Glu) c.296A>G n.560A>G c.8293A>G (p.Lys2765Glu) c.6469A>G (p.Lys2157Glu) c.6472A>G (p.Lys2158Glu) n.4735A>G c.7693A>G (p.Lys2565Glu) c.7072A>G (p.Lys2358Glu) c.7792A>G (p.Lys2598Glu) c.8290A>G (p.Lys2764Glu) c.5887A>G (p.Lys1963Glu)	dbSNP gnomAD v4
2	g.237340623T>G	CA351195437	COL6A3	c.938A>C c.7675A>C (p.Lys2559Gln) c.296A>C n.560A>C c.8293A>C (p.Lys2765Gln) c.6469A>C (p.Lys2157Gln) c.6472A>C (p.Lys2158Gln) n.4735A>C c.7693A>C (p.Lys2565Gln) c.7072A>C (p.Lys2358Gln) c.7792A>C (p.Lys2598Gln) c.8290A>C (p.Lys2764Gln) c.5887A>C (p.Lys1963Gln)
2	g.237340623T=	CA1337608739	COL6A3	c.938A= c.7675A= (p.Lys2559=) c.296A= n.560A= c.8293A= (p.Lys2765=) c.6469A= (p.Lys2157=) c.6472A= (p.Lys2158=) n.4735A= c.7693A= (p.Lys2565=) c.7072A= (p.Lys2358=) c.7792A= (p.Lys2598=) c.8290A= (p.Lys2764=) c.5887A= (p.Lys1963=)

Number of alleles fetched