Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.237336198C>A	CA351191103	COL6A3	c.1547G>T c.8284G>T (p.Glu2762Ter) c.1029G>T n.1169G>T c.8902G>T (p.Glu2968Ter) c.7078G>T (p.Glu2360Ter) c.7081G>T (p.Glu2361Ter) n.5344G>T c.8302G>T (p.Glu2768Ter) c.7681G>T (p.Glu2561Ter) c.8401G>T (p.Glu2801Ter) c.8899G>T (p.Glu2967Ter) c.6496G>T (p.Glu2166Ter)
2	g.237336198C>G	CA351191105	COL6A3	c.1547G>C c.8284G>C (p.Glu2762Gln) c.1029G>C n.1169G>C c.8902G>C (p.Glu2968Gln) c.7078G>C (p.Glu2360Gln) c.7081G>C (p.Glu2361Gln) n.5344G>C c.8302G>C (p.Glu2768Gln) c.7681G>C (p.Glu2561Gln) c.8401G>C (p.Glu2801Gln) c.8899G>C (p.Glu2967Gln) c.6496G>C (p.Glu2166Gln)
2	g.237336198C>T	CA351191106	COL6A3	c.1547G>A c.8284G>A (p.Glu2762Lys) c.1029G>A n.1169G>A c.8902G>A (p.Glu2968Lys) c.7078G>A (p.Glu2360Lys) c.7081G>A (p.Glu2361Lys) n.5344G>A c.8302G>A (p.Glu2768Lys) c.7681G>A (p.Glu2561Lys) c.8401G>A (p.Glu2801Lys) c.8899G>A (p.Glu2967Lys) c.6496G>A (p.Glu2166Lys)
2	g.237336199A>C	CA431700613	COL6A3	c.1546T>G c.8283T>G (p.Pro2761=) c.1028T>G n.1168T>G c.8901T>G (p.Pro2967=) c.7077T>G (p.Pro2359=) c.7080T>G (p.Pro2360=) n.5343T>G c.8301T>G (p.Pro2767=) c.7680T>G (p.Pro2560=) c.8400T>G (p.Pro2800=) c.8898T>G (p.Pro2966=) c.6495T>G (p.Pro2165=)
2	g.237336199A>G	CA431700615	COL6A3	c.1546T>C c.8283T>C (p.Pro2761=) c.1028T>C n.1168T>C c.8901T>C (p.Pro2967=) c.7077T>C (p.Pro2359=) c.7080T>C (p.Pro2360=) n.5343T>C c.8301T>C (p.Pro2767=) c.7680T>C (p.Pro2560=) c.8400T>C (p.Pro2800=) c.8898T>C (p.Pro2966=) c.6495T>C (p.Pro2165=)
2	g.237336199A>T	CA431700619	COL6A3	c.1546T>A c.8283T>A (p.Pro2761=) c.1028T>A n.1168T>A c.8901T>A (p.Pro2967=) c.7077T>A (p.Pro2359=) c.7080T>A (p.Pro2360=) n.5343T>A c.8301T>A (p.Pro2767=) c.7680T>A (p.Pro2560=) c.8400T>A (p.Pro2800=) c.8898T>A (p.Pro2966=) c.6495T>A (p.Pro2165=)
2	g.237336200G>A	CA351191109	COL6A3	c.1545C>T c.8282C>T (p.Pro2761Leu) c.1027C>T n.1167C>T c.8900C>T (p.Pro2967Leu) c.7076C>T (p.Pro2359Leu) c.7079C>T (p.Pro2360Leu) n.5342C>T c.8300C>T (p.Pro2767Leu) c.7679C>T (p.Pro2560Leu) c.8399C>T (p.Pro2800Leu) c.8897C>T (p.Pro2966Leu) c.6494C>T (p.Pro2165Leu)
2	g.237336200G>C	CA351191111	COL6A3	c.1545C>G c.8282C>G (p.Pro2761Arg) c.1027C>G n.1167C>G c.8900C>G (p.Pro2967Arg) c.7076C>G (p.Pro2359Arg) c.7079C>G (p.Pro2360Arg) n.5342C>G c.8300C>G (p.Pro2767Arg) c.7679C>G (p.Pro2560Arg) c.8399C>G (p.Pro2800Arg) c.8897C>G (p.Pro2966Arg) c.6494C>G (p.Pro2165Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.237336200G=	CA1337607073	COL6A3	c.1545C= c.8282C= (p.Pro2761=) c.1027C= n.1167C= c.8900C= (p.Pro2967=) c.7076C= (p.Pro2359=) c.7079C= (p.Pro2360=) n.5342C= c.8300C= (p.Pro2767=) c.7679C= (p.Pro2560=) c.8399C= (p.Pro2800=) c.8897C= (p.Pro2966=) c.6494C= (p.Pro2165=)
2	g.237336200G>T	CA351191110	COL6A3	c.1545C>A c.8282C>A (p.Pro2761His) c.1027C>A n.1167C>A c.8900C>A (p.Pro2967His) c.7076C>A (p.Pro2359His) c.7079C>A (p.Pro2360His) n.5342C>A c.8300C>A (p.Pro2767His) c.7679C>A (p.Pro2560His) c.8399C>A (p.Pro2800His) c.8897C>A (p.Pro2966His) c.6494C>A (p.Pro2165His)
2	g.237336201G>A	CA351191113	COL6A3	c.1544C>T c.8281C>T (p.Pro2761Ser) c.1026C>T n.1166C>T c.8899C>T (p.Pro2967Ser) c.7075C>T (p.Pro2359Ser) c.7078C>T (p.Pro2360Ser) n.5341C>T c.8299C>T (p.Pro2767Ser) c.7678C>T (p.Pro2560Ser) c.8398C>T (p.Pro2800Ser) c.8896C>T (p.Pro2966Ser) c.6493C>T (p.Pro2165Ser)
2	g.237336201G>C	CA351191114	COL6A3	c.1544C>G c.8281C>G (p.Pro2761Ala) c.1026C>G n.1166C>G c.8899C>G (p.Pro2967Ala) c.7075C>G (p.Pro2359Ala) c.7078C>G (p.Pro2360Ala) n.5341C>G c.8299C>G (p.Pro2767Ala) c.7678C>G (p.Pro2560Ala) c.8398C>G (p.Pro2800Ala) c.8896C>G (p.Pro2966Ala) c.6493C>G (p.Pro2165Ala)
2	g.237336201G=	CA1337607074	COL6A3	c.1544C= c.8281C= (p.Pro2761=) c.1026C= n.1166C= c.8899C= (p.Pro2967=) c.7075C= (p.Pro2359=) c.7078C= (p.Pro2360=) n.5341C= c.8299C= (p.Pro2767=) c.7678C= (p.Pro2560=) c.8398C= (p.Pro2800=) c.8896C= (p.Pro2966=) c.6493C= (p.Pro2165=)
2	g.237336201G>T	CA351191116	COL6A3	c.1544C>A c.8281C>A (p.Pro2761Thr) c.1026C>A n.1166C>A c.8899C>A (p.Pro2967Thr) c.7075C>A (p.Pro2359Thr) c.7078C>A (p.Pro2360Thr) n.5341C>A c.8299C>A (p.Pro2767Thr) c.7678C>A (p.Pro2560Thr) c.8398C>A (p.Pro2800Thr) c.8896C>A (p.Pro2966Thr) c.6493C>A (p.Pro2165Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.237336202C>A	CA351191118	COL6A3	c.1543G>T c.8280G>T (p.Lys2760Asn) c.1025G>T n.1165G>T c.8898G>T (p.Lys2966Asn) c.7074G>T (p.Lys2358Asn) c.7077G>T (p.Lys2359Asn) n.5340G>T c.8298G>T (p.Lys2766Asn) c.7677G>T (p.Lys2559Asn) c.8397G>T (p.Lys2799Asn) c.8895G>T (p.Lys2965Asn) c.6492G>T (p.Lys2164Asn)
2	g.237336202C=	CA1337607075	COL6A3	c.1543G= c.8280G= (p.Lys2760=) c.1025G= n.1165G= c.8898G= (p.Lys2966=) c.7074G= (p.Lys2358=) c.7077G= (p.Lys2359=) n.5340G= c.8298G= (p.Lys2766=) c.7677G= (p.Lys2559=) c.8397G= (p.Lys2799=) c.8895G= (p.Lys2965=) c.6492G= (p.Lys2164=)
2	g.237336202C>G	CA351191120	COL6A3	c.1543G>C c.8280G>C (p.Lys2760Asn) c.1025G>C n.1165G>C c.8898G>C (p.Lys2966Asn) c.7074G>C (p.Lys2358Asn) c.7077G>C (p.Lys2359Asn) n.5340G>C c.8298G>C (p.Lys2766Asn) c.7677G>C (p.Lys2559Asn) c.8397G>C (p.Lys2799Asn) c.8895G>C (p.Lys2965Asn) c.6492G>C (p.Lys2164Asn)
2	g.237336202C>T	CA431700644	COL6A3	c.1543G>A c.8280G>A (p.Lys2760=) c.1025G>A n.1165G>A c.8898G>A (p.Lys2966=) c.7074G>A (p.Lys2358=) c.7077G>A (p.Lys2359=) n.5340G>A c.8298G>A (p.Lys2766=) c.7677G>A (p.Lys2559=) c.8397G>A (p.Lys2799=) c.8895G>A (p.Lys2965=) c.6492G>A (p.Lys2164=)	dbSNP gnomAD v2 gnomAD v4
2	g.237336203T>A	CA351191121	COL6A3	c.1542A>T c.8279A>T (p.Lys2760Met) c.1024A>T n.1164A>T c.8897A>T (p.Lys2966Met) c.7073A>T (p.Lys2358Met) c.7076A>T (p.Lys2359Met) n.5339A>T c.8297A>T (p.Lys2766Met) c.7676A>T (p.Lys2559Met) c.8396A>T (p.Lys2799Met) c.8894A>T (p.Lys2965Met) c.6491A>T (p.Lys2164Met)
2	g.237336203T>C	CA351191123	COL6A3	c.1542A>G c.8279A>G (p.Lys2760Arg) c.1024A>G n.1164A>G c.8897A>G (p.Lys2966Arg) c.7073A>G (p.Lys2358Arg) c.7076A>G (p.Lys2359Arg) n.5339A>G c.8297A>G (p.Lys2766Arg) c.7676A>G (p.Lys2559Arg) c.8396A>G (p.Lys2799Arg) c.8894A>G (p.Lys2965Arg) c.6491A>G (p.Lys2164Arg)	dbSNP
2	g.237336203T>G	CA351191125	COL6A3	c.1542A>C c.8279A>C (p.Lys2760Thr) c.1024A>C n.1164A>C c.8897A>C (p.Lys2966Thr) c.7073A>C (p.Lys2358Thr) c.7076A>C (p.Lys2359Thr) n.5339A>C c.8297A>C (p.Lys2766Thr) c.7676A>C (p.Lys2559Thr) c.8396A>C (p.Lys2799Thr) c.8894A>C (p.Lys2965Thr) c.6491A>C (p.Lys2164Thr)
2	g.237336203T=	CA1337607076	COL6A3	c.1542A= c.8279A= (p.Lys2760=) c.1024A= n.1164A= c.8897A= (p.Lys2966=) c.7073A= (p.Lys2358=) c.7076A= (p.Lys2359=) n.5339A= c.8297A= (p.Lys2766=) c.7676A= (p.Lys2559=) c.8396A= (p.Lys2799=) c.8894A= (p.Lys2965=) c.6491A= (p.Lys2164=)
2	g.237336204T>A	CA351191127	COL6A3	c.1541A>T c.8278A>T (p.Lys2760Ter) c.1023A>T n.1163A>T c.8896A>T (p.Lys2966Ter) c.7072A>T (p.Lys2358Ter) c.7075A>T (p.Lys2359Ter) n.5338A>T c.8296A>T (p.Lys2766Ter) c.7675A>T (p.Lys2559Ter) c.8395A>T (p.Lys2799Ter) c.8893A>T (p.Lys2965Ter) c.6490A>T (p.Lys2164Ter)
2	g.237336204T>C	CA351191129	COL6A3	c.1541A>G c.8278A>G (p.Lys2760Glu) c.1023A>G n.1163A>G c.8896A>G (p.Lys2966Glu) c.7072A>G (p.Lys2358Glu) c.7075A>G (p.Lys2359Glu) n.5338A>G c.8296A>G (p.Lys2766Glu) c.7675A>G (p.Lys2559Glu) c.8395A>G (p.Lys2799Glu) c.8893A>G (p.Lys2965Glu) c.6490A>G (p.Lys2164Glu)
2	g.237336204T>G	CA2187416	COL6A3	c.1541A>C c.8278A>C (p.Lys2760Gln) c.1023A>C n.1163A>C c.8896A>C (p.Lys2966Gln) c.7072A>C (p.Lys2358Gln) c.7075A>C (p.Lys2359Gln) n.5338A>C c.8296A>C (p.Lys2766Gln) c.7675A>C (p.Lys2559Gln) c.8395A>C (p.Lys2799Gln) c.8893A>C (p.Lys2965Gln) c.6490A>C (p.Lys2164Gln)	dbSNP ExAC gnomAD v2
2	g.237336204T=	CA1337607077	COL6A3	c.1541A= c.8278A= (p.Lys2760=) c.1023A= n.1163A= c.8896A= (p.Lys2966=) c.7072A= (p.Lys2358=) c.7075A= (p.Lys2359=) n.5338A= c.8296A= (p.Lys2766=) c.7675A= (p.Lys2559=) c.8395A= (p.Lys2799=) c.8893A= (p.Lys2965=) c.6490A= (p.Lys2164=)
2	g.237336205G>A	CA431700661	COL6A3	c.1540C>T c.8277C>T (p.Thr2759=) c.1022C>T n.1162C>T c.8895C>T (p.Thr2965=) c.7071C>T (p.Thr2357=) c.7074C>T (p.Thr2358=) n.5337C>T c.8295C>T (p.Thr2765=) c.7674C>T (p.Thr2558=) c.8394C>T (p.Thr2798=) c.8892C>T (p.Thr2964=) c.6489C>T (p.Thr2163=)	ClinVar dbSNP gnomAD v4
2	g.237336205G>C	CA431700655	COL6A3	c.1540C>G c.8277C>G (p.Thr2759=) c.1022C>G n.1162C>G c.8895C>G (p.Thr2965=) c.7071C>G (p.Thr2357=) c.7074C>G (p.Thr2358=) n.5337C>G c.8295C>G (p.Thr2765=) c.7674C>G (p.Thr2558=) c.8394C>G (p.Thr2798=) c.8892C>G (p.Thr2964=) c.6489C>G (p.Thr2163=)
2	g.237336205G=	CA1337607078	COL6A3	c.1540C= c.8277C= (p.Thr2759=) c.1022C= n.1162C= c.8895C= (p.Thr2965=) c.7071C= (p.Thr2357=) c.7074C= (p.Thr2358=) n.5337C= c.8295C= (p.Thr2765=) c.7674C= (p.Thr2558=) c.8394C= (p.Thr2798=) c.8892C= (p.Thr2964=) c.6489C= (p.Thr2163=)
2	g.237336205G>T	CA2187417	COL6A3	c.1540C>A c.8277C>A (p.Thr2759=) c.1022C>A n.1162C>A c.8895C>A (p.Thr2965=) c.7071C>A (p.Thr2357=) c.7074C>A (p.Thr2358=) n.5337C>A c.8295C>A (p.Thr2765=) c.7674C>A (p.Thr2558=) c.8394C>A (p.Thr2798=) c.8892C>A (p.Thr2964=) c.6489C>A (p.Thr2163=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336206G>A	CA351191136	COL6A3	c.1539C>T c.8276C>T (p.Thr2759Ile) c.1021C>T n.1161C>T c.8894C>T (p.Thr2965Ile) c.7070C>T (p.Thr2357Ile) c.7073C>T (p.Thr2358Ile) n.5336C>T c.8294C>T (p.Thr2765Ile) c.7673C>T (p.Thr2558Ile) c.8393C>T (p.Thr2798Ile) c.8891C>T (p.Thr2964Ile) c.6488C>T (p.Thr2163Ile)
2	g.237336206G>C	CA351191139	COL6A3	c.1539C>G c.8276C>G (p.Thr2759Ser) c.1021C>G n.1161C>G c.8894C>G (p.Thr2965Ser) c.7070C>G (p.Thr2357Ser) c.7073C>G (p.Thr2358Ser) n.5336C>G c.8294C>G (p.Thr2765Ser) c.7673C>G (p.Thr2558Ser) c.8393C>G (p.Thr2798Ser) c.8891C>G (p.Thr2964Ser) c.6488C>G (p.Thr2163Ser)	gnomAD v4
2	g.237336206G>T	CA351191138	COL6A3	c.1539C>A c.8276C>A (p.Thr2759Asn) c.1021C>A n.1161C>A c.8894C>A (p.Thr2965Asn) c.7070C>A (p.Thr2357Asn) c.7073C>A (p.Thr2358Asn) n.5336C>A c.8294C>A (p.Thr2765Asn) c.7673C>A (p.Thr2558Asn) c.8393C>A (p.Thr2798Asn) c.8891C>A (p.Thr2964Asn) c.6488C>A (p.Thr2163Asn)
2	g.237336207T>A	CA351191141	COL6A3	c.1538A>T c.8275A>T (p.Thr2759Ser) c.1020A>T n.1160A>T c.8893A>T (p.Thr2965Ser) c.7069A>T (p.Thr2357Ser) c.7072A>T (p.Thr2358Ser) n.5335A>T c.8293A>T (p.Thr2765Ser) c.7672A>T (p.Thr2558Ser) c.8392A>T (p.Thr2798Ser) c.8890A>T (p.Thr2964Ser) c.6487A>T (p.Thr2163Ser)
2	g.237336207T>C	CA351191142	COL6A3	c.1538A>G c.8275A>G (p.Thr2759Ala) c.1020A>G n.1160A>G c.8893A>G (p.Thr2965Ala) c.7069A>G (p.Thr2357Ala) c.7072A>G (p.Thr2358Ala) n.5335A>G c.8293A>G (p.Thr2765Ala) c.7672A>G (p.Thr2558Ala) c.8392A>G (p.Thr2798Ala) c.8890A>G (p.Thr2964Ala) c.6487A>G (p.Thr2163Ala)
2	g.237336207T>G	CA351191144	COL6A3	c.1538A>C c.8275A>C (p.Thr2759Pro) c.1020A>C n.1160A>C c.8893A>C (p.Thr2965Pro) c.7069A>C (p.Thr2357Pro) c.7072A>C (p.Thr2358Pro) n.5335A>C c.8293A>C (p.Thr2765Pro) c.7672A>C (p.Thr2558Pro) c.8392A>C (p.Thr2798Pro) c.8890A>C (p.Thr2964Pro) c.6487A>C (p.Thr2163Pro)
2	g.237336208C>A	CA431700678	COL6A3	c.1537G>T c.8274G>T (p.Ala2758=) c.1019G>T n.1159G>T c.8892G>T (p.Ala2964=) c.7068G>T (p.Ala2356=) c.7071G>T (p.Ala2357=) n.5334G>T c.8292G>T (p.Ala2764=) c.7671G>T (p.Ala2557=) c.8391G>T (p.Ala2797=) c.8889G>T (p.Ala2963=) c.6486G>T (p.Ala2162=)
2	g.237336208C=	CA1337607079	COL6A3	c.1537G= c.8274G= (p.Ala2758=) c.1019G= n.1159G= c.8892G= (p.Ala2964=) c.7068G= (p.Ala2356=) c.7071G= (p.Ala2357=) n.5334G= c.8292G= (p.Ala2764=) c.7671G= (p.Ala2557=) c.8391G= (p.Ala2797=) c.8889G= (p.Ala2963=) c.6486G= (p.Ala2162=)
2	g.237336208C>G	CA2187418	COL6A3	c.1537G>C c.8274G>C (p.Ala2758=) c.1019G>C n.1159G>C c.8892G>C (p.Ala2964=) c.7068G>C (p.Ala2356=) c.7071G>C (p.Ala2357=) n.5334G>C c.8292G>C (p.Ala2764=) c.7671G>C (p.Ala2557=) c.8391G>C (p.Ala2797=) c.8889G>C (p.Ala2963=) c.6486G>C (p.Ala2162=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336208C>T	CA2187419	COL6A3	c.1537G>A c.8274G>A (p.Ala2758=) c.1019G>A n.1159G>A c.8892G>A (p.Ala2964=) c.7068G>A (p.Ala2356=) c.7071G>A (p.Ala2357=) n.5334G>A c.8292G>A (p.Ala2764=) c.7671G>A (p.Ala2557=) c.8391G>A (p.Ala2797=) c.8889G>A (p.Ala2963=) c.6486G>A (p.Ala2162=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336209G>A	CA2187420	COL6A3	c.1536C>T c.8273C>T (p.Ala2758Val) c.1018C>T n.1158C>T c.8891C>T (p.Ala2964Val) c.7067C>T (p.Ala2356Val) c.7070C>T (p.Ala2357Val) n.5333C>T c.8291C>T (p.Ala2764Val) c.7670C>T (p.Ala2557Val) c.8390C>T (p.Ala2797Val) c.8888C>T (p.Ala2963Val) c.6485C>T (p.Ala2162Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336209G>C	CA351191150	COL6A3	c.1536C>G c.8273C>G (p.Ala2758Gly) c.1018C>G n.1158C>G c.8891C>G (p.Ala2964Gly) c.7067C>G (p.Ala2356Gly) c.7070C>G (p.Ala2357Gly) n.5333C>G c.8291C>G (p.Ala2764Gly) c.7670C>G (p.Ala2557Gly) c.8390C>G (p.Ala2797Gly) c.8888C>G (p.Ala2963Gly) c.6485C>G (p.Ala2162Gly)
2	g.237336209G=	CA1337607080	COL6A3	c.1536C= c.8273C= (p.Ala2758=) c.1018C= n.1158C= c.8891C= (p.Ala2964=) c.7067C= (p.Ala2356=) c.7070C= (p.Ala2357=) n.5333C= c.8291C= (p.Ala2764=) c.7670C= (p.Ala2557=) c.8390C= (p.Ala2797=) c.8888C= (p.Ala2963=) c.6485C= (p.Ala2162=)
2	g.237336209G>T	CA351191148	COL6A3	c.1536C>A c.8273C>A (p.Ala2758Glu) c.1018C>A n.1158C>A c.8891C>A (p.Ala2964Glu) c.7067C>A (p.Ala2356Glu) c.7070C>A (p.Ala2357Glu) n.5333C>A c.8291C>A (p.Ala2764Glu) c.7670C>A (p.Ala2557Glu) c.8390C>A (p.Ala2797Glu) c.8888C>A (p.Ala2963Glu) c.6485C>A (p.Ala2162Glu)
2	g.237336210C>A	CA351191151	COL6A3	c.1535G>T c.8272G>T (p.Ala2758Ser) c.1017G>T n.1157G>T c.8890G>T (p.Ala2964Ser) c.7066G>T (p.Ala2356Ser) c.7069G>T (p.Ala2357Ser) n.5332G>T c.8290G>T (p.Ala2764Ser) c.7669G>T (p.Ala2557Ser) c.8389G>T (p.Ala2797Ser) c.8887G>T (p.Ala2963Ser) c.6484G>T (p.Ala2162Ser)
2	g.237336210C>G	CA351191152	COL6A3	c.1535G>C c.8272G>C (p.Ala2758Pro) c.1017G>C n.1157G>C c.8890G>C (p.Ala2964Pro) c.7066G>C (p.Ala2356Pro) c.7069G>C (p.Ala2357Pro) n.5332G>C c.8290G>C (p.Ala2764Pro) c.7669G>C (p.Ala2557Pro) c.8389G>C (p.Ala2797Pro) c.8887G>C (p.Ala2963Pro) c.6484G>C (p.Ala2162Pro)
2	g.237336210C>T	CA351191153	COL6A3	c.1535G>A c.8272G>A (p.Ala2758Thr) c.1017G>A n.1157G>A c.8890G>A (p.Ala2964Thr) c.7066G>A (p.Ala2356Thr) c.7069G>A (p.Ala2357Thr) n.5332G>A c.8290G>A (p.Ala2764Thr) c.7669G>A (p.Ala2557Thr) c.8389G>A (p.Ala2797Thr) c.8887G>A (p.Ala2963Thr) c.6484G>A (p.Ala2162Thr)
2	g.237336211C>A	CA431700715	COL6A3	c.1534G>T c.8271G>T (p.Val2757=) c.1016G>T n.1156G>T c.8889G>T (p.Val2963=) c.7065G>T (p.Val2355=) c.7068G>T (p.Val2356=) n.5331G>T c.8289G>T (p.Val2763=) c.7668G>T (p.Val2556=) c.8388G>T (p.Val2796=) c.8886G>T (p.Val2962=) c.6483G>T (p.Val2161=)
2	g.237336211C>G	CA431700723	COL6A3	c.1534G>C c.8271G>C (p.Val2757=) c.1016G>C n.1156G>C c.8889G>C (p.Val2963=) c.7065G>C (p.Val2355=) c.7068G>C (p.Val2356=) n.5331G>C c.8289G>C (p.Val2763=) c.7668G>C (p.Val2556=) c.8388G>C (p.Val2796=) c.8886G>C (p.Val2962=) c.6483G>C (p.Val2161=)
2	g.237336211C>T	CA431700727	COL6A3	c.1534G>A c.8271G>A (p.Val2757=) c.1016G>A n.1156G>A c.8889G>A (p.Val2963=) c.7065G>A (p.Val2355=) c.7068G>A (p.Val2356=) n.5331G>A c.8289G>A (p.Val2763=) c.7668G>A (p.Val2556=) c.8388G>A (p.Val2796=) c.8886G>A (p.Val2962=) c.6483G>A (p.Val2161=)
2	g.237336212A>C	CA351191154	COL6A3	c.1533T>G c.8270T>G (p.Val2757Gly) c.1015T>G n.1155T>G c.8888T>G (p.Val2963Gly) c.7064T>G (p.Val2355Gly) c.7067T>G (p.Val2356Gly) n.5330T>G c.8288T>G (p.Val2763Gly) c.7667T>G (p.Val2556Gly) c.8387T>G (p.Val2796Gly) c.8885T>G (p.Val2962Gly) c.6482T>G (p.Val2161Gly)
2	g.237336212A>G	CA351191155	COL6A3	c.1533T>C c.8270T>C (p.Val2757Ala) c.1015T>C n.1155T>C c.8888T>C (p.Val2963Ala) c.7064T>C (p.Val2355Ala) c.7067T>C (p.Val2356Ala) n.5330T>C c.8288T>C (p.Val2763Ala) c.7667T>C (p.Val2556Ala) c.8387T>C (p.Val2796Ala) c.8885T>C (p.Val2962Ala) c.6482T>C (p.Val2161Ala)
2	g.237336212A>T	CA351191156	COL6A3	c.1533T>A c.8270T>A (p.Val2757Glu) c.1015T>A n.1155T>A c.8888T>A (p.Val2963Glu) c.7064T>A (p.Val2355Glu) c.7067T>A (p.Val2356Glu) n.5330T>A c.8288T>A (p.Val2763Glu) c.7667T>A (p.Val2556Glu) c.8387T>A (p.Val2796Glu) c.8885T>A (p.Val2962Glu) c.6482T>A (p.Val2161Glu)
2	g.237336213C>A	CA351191157	COL6A3	c.1532G>T c.8269G>T (p.Val2757Leu) c.1014G>T n.1154G>T c.8887G>T (p.Val2963Leu) c.7063G>T (p.Val2355Leu) c.7066G>T (p.Val2356Leu) n.5329G>T c.8287G>T (p.Val2763Leu) c.7666G>T (p.Val2556Leu) c.8386G>T (p.Val2796Leu) c.8884G>T (p.Val2962Leu) c.6481G>T (p.Val2161Leu)
2	g.237336213C>G	CA351191159	COL6A3	c.1532G>C c.8269G>C (p.Val2757Leu) c.1014G>C n.1154G>C c.8887G>C (p.Val2963Leu) c.7063G>C (p.Val2355Leu) c.7066G>C (p.Val2356Leu) n.5329G>C c.8287G>C (p.Val2763Leu) c.7666G>C (p.Val2556Leu) c.8386G>C (p.Val2796Leu) c.8884G>C (p.Val2962Leu) c.6481G>C (p.Val2161Leu)
2	g.237336213C>T	CA351191158	COL6A3	c.1532G>A c.8269G>A (p.Val2757Met) c.1014G>A n.1154G>A c.8887G>A (p.Val2963Met) c.7063G>A (p.Val2355Met) c.7066G>A (p.Val2356Met) n.5329G>A c.8287G>A (p.Val2763Met) c.7666G>A (p.Val2556Met) c.8386G>A (p.Val2796Met) c.8884G>A (p.Val2962Met) c.6481G>A (p.Val2161Met)	COSMIC
2	g.237336214T>A	CA431700742	COL6A3	c.1531A>T c.8268A>T (p.Pro2756=) c.1013A>T n.1153A>T c.8886A>T (p.Pro2962=) c.7062A>T (p.Pro2354=) c.7065A>T (p.Pro2355=) n.5328A>T c.8286A>T (p.Pro2762=) c.7665A>T (p.Pro2555=) c.8385A>T (p.Pro2795=) c.8883A>T (p.Pro2961=) c.6480A>T (p.Pro2160=)
2	g.237336214T>C	CA431700748	COL6A3	c.1531A>G c.8268A>G (p.Pro2756=) c.1013A>G n.1153A>G c.8886A>G (p.Pro2962=) c.7062A>G (p.Pro2354=) c.7065A>G (p.Pro2355=) n.5328A>G c.8286A>G (p.Pro2762=) c.7665A>G (p.Pro2555=) c.8385A>G (p.Pro2795=) c.8883A>G (p.Pro2961=) c.6480A>G (p.Pro2160=)
2	g.237336214T>G	CA431700744	COL6A3	c.1531A>C c.8268A>C (p.Pro2756=) c.1013A>C n.1153A>C c.8886A>C (p.Pro2962=) c.7062A>C (p.Pro2354=) c.7065A>C (p.Pro2355=) n.5328A>C c.8286A>C (p.Pro2762=) c.7665A>C (p.Pro2555=) c.8385A>C (p.Pro2795=) c.8883A>C (p.Pro2961=) c.6480A>C (p.Pro2160=)
2	g.237336215G>A	CA351191160	COL6A3	c.1530C>T c.8267C>T (p.Pro2756Leu) c.1012C>T n.1152C>T c.8885C>T (p.Pro2962Leu) c.7061C>T (p.Pro2354Leu) c.7064C>T (p.Pro2355Leu) n.5327C>T c.8285C>T (p.Pro2762Leu) c.7664C>T (p.Pro2555Leu) c.8384C>T (p.Pro2795Leu) c.8882C>T (p.Pro2961Leu) c.6479C>T (p.Pro2160Leu)
2	g.237336215G>C	CA351191161	COL6A3	c.1530C>G c.8267C>G (p.Pro2756Arg) c.1012C>G n.1152C>G c.8885C>G (p.Pro2962Arg) c.7061C>G (p.Pro2354Arg) c.7064C>G (p.Pro2355Arg) n.5327C>G c.8285C>G (p.Pro2762Arg) c.7664C>G (p.Pro2555Arg) c.8384C>G (p.Pro2795Arg) c.8882C>G (p.Pro2961Arg) c.6479C>G (p.Pro2160Arg)
2	g.237336215G>T	CA351191162	COL6A3	c.1530C>A c.8267C>A (p.Pro2756Gln) c.1012C>A n.1152C>A c.8885C>A (p.Pro2962Gln) c.7061C>A (p.Pro2354Gln) c.7064C>A (p.Pro2355Gln) n.5327C>A c.8285C>A (p.Pro2762Gln) c.7664C>A (p.Pro2555Gln) c.8384C>A (p.Pro2795Gln) c.8882C>A (p.Pro2961Gln) c.6479C>A (p.Pro2160Gln)
2	g.237336216G>A	CA351191163	COL6A3	c.1529C>T c.8266C>T (p.Pro2756Ser) c.1011C>T n.1151C>T c.8884C>T (p.Pro2962Ser) c.7060C>T (p.Pro2354Ser) c.7063C>T (p.Pro2355Ser) n.5326C>T c.8284C>T (p.Pro2762Ser) c.7663C>T (p.Pro2555Ser) c.8383C>T (p.Pro2795Ser) c.8881C>T (p.Pro2961Ser) c.6478C>T (p.Pro2160Ser)
2	g.237336216G>C	CA351191164	COL6A3	c.1529C>G c.8266C>G (p.Pro2756Ala) c.1011C>G n.1151C>G c.8884C>G (p.Pro2962Ala) c.7060C>G (p.Pro2354Ala) c.7063C>G (p.Pro2355Ala) n.5326C>G c.8284C>G (p.Pro2762Ala) c.7663C>G (p.Pro2555Ala) c.8383C>G (p.Pro2795Ala) c.8881C>G (p.Pro2961Ala) c.6478C>G (p.Pro2160Ala)
2	g.237336216G>T	CA351191165	COL6A3	c.1529C>A c.8266C>A (p.Pro2756Thr) c.1011C>A n.1151C>A c.8884C>A (p.Pro2962Thr) c.7060C>A (p.Pro2354Thr) c.7063C>A (p.Pro2355Thr) n.5326C>A c.8284C>A (p.Pro2762Thr) c.7663C>A (p.Pro2555Thr) c.8383C>A (p.Pro2795Thr) c.8881C>A (p.Pro2961Thr) c.6478C>A (p.Pro2160Thr)
2	g.237336217T>A	CA351191166	COL6A3	c.1528A>T c.8265A>T (p.Lys2755Asn) c.1010A>T n.1150A>T c.8883A>T (p.Lys2961Asn) c.7059A>T (p.Lys2353Asn) c.7062A>T (p.Lys2354Asn) n.5325A>T c.8283A>T (p.Lys2761Asn) c.7662A>T (p.Lys2554Asn) c.8382A>T (p.Lys2794Asn) c.8880A>T (p.Lys2960Asn) c.6477A>T (p.Lys2159Asn)
2	g.237336217T>C	CA431700792	COL6A3	c.1528A>G c.8265A>G (p.Lys2755=) c.1010A>G n.1150A>G c.8883A>G (p.Lys2961=) c.7059A>G (p.Lys2353=) c.7062A>G (p.Lys2354=) n.5325A>G c.8283A>G (p.Lys2761=) c.7662A>G (p.Lys2554=) c.8382A>G (p.Lys2794=) c.8880A>G (p.Lys2960=) c.6477A>G (p.Lys2159=)
2	g.237336217T>G	CA351191167	COL6A3	c.1528A>C c.8265A>C (p.Lys2755Asn) c.1010A>C n.1150A>C c.8883A>C (p.Lys2961Asn) c.7059A>C (p.Lys2353Asn) c.7062A>C (p.Lys2354Asn) n.5325A>C c.8283A>C (p.Lys2761Asn) c.7662A>C (p.Lys2554Asn) c.8382A>C (p.Lys2794Asn) c.8880A>C (p.Lys2960Asn) c.6477A>C (p.Lys2159Asn)
2	g.237336220del	CA2580066106	COL6A3	c.1528del c.8265del (p.Lys2755AsnfsTer?) c.1010del n.1150del c.8883del (p.Lys2961AsnfsTer?) c.7059del (p.Lys2353AsnfsTer?) c.7062del (p.Lys2354AsnfsTer?) n.5325del c.8283del (p.Lys2761AsnfsTer?) c.7662del (p.Lys2554AsnfsTer?) c.8382del (p.Lys2794AsnfsTer?) c.8880del (p.Lys2960AsnfsTer?) c.6477del (p.Lys2159AsnfsTer?)	ClinVar
2	g.237336218T>A	CA351191168	COL6A3	c.1527A>T c.8264A>T (p.Lys2755Ile) c.1009A>T n.1149A>T c.8882A>T (p.Lys2961Ile) c.7058A>T (p.Lys2353Ile) c.7061A>T (p.Lys2354Ile) n.5324A>T c.8282A>T (p.Lys2761Ile) c.7661A>T (p.Lys2554Ile) c.8381A>T (p.Lys2794Ile) c.8879A>T (p.Lys2960Ile) c.6476A>T (p.Lys2159Ile)
2	g.237336218T>C	CA351191169	COL6A3	c.1527A>G c.8264A>G (p.Lys2755Arg) c.1009A>G n.1149A>G c.8882A>G (p.Lys2961Arg) c.7058A>G (p.Lys2353Arg) c.7061A>G (p.Lys2354Arg) n.5324A>G c.8282A>G (p.Lys2761Arg) c.7661A>G (p.Lys2554Arg) c.8381A>G (p.Lys2794Arg) c.8879A>G (p.Lys2960Arg) c.6476A>G (p.Lys2159Arg)
2	g.237336218T>G	CA351191170	COL6A3	c.1527A>C c.8264A>C (p.Lys2755Thr) c.1009A>C n.1149A>C c.8882A>C (p.Lys2961Thr) c.7058A>C (p.Lys2353Thr) c.7061A>C (p.Lys2354Thr) n.5324A>C c.8282A>C (p.Lys2761Thr) c.7661A>C (p.Lys2554Thr) c.8381A>C (p.Lys2794Thr) c.8879A>C (p.Lys2960Thr) c.6476A>C (p.Lys2159Thr)
2	g.237336219T>A	CA351191172	COL6A3	c.1526A>T c.8263A>T (p.Lys2755Ter) c.1008A>T n.1148A>T c.8881A>T (p.Lys2961Ter) c.7057A>T (p.Lys2353Ter) c.7060A>T (p.Lys2354Ter) n.5323A>T c.8281A>T (p.Lys2761Ter) c.7660A>T (p.Lys2554Ter) c.8380A>T (p.Lys2794Ter) c.8878A>T (p.Lys2960Ter) c.6475A>T (p.Lys2159Ter)
2	g.237336219T>C	CA351191173	COL6A3	c.1526A>G c.8263A>G (p.Lys2755Glu) c.1008A>G n.1148A>G c.8881A>G (p.Lys2961Glu) c.7057A>G (p.Lys2353Glu) c.7060A>G (p.Lys2354Glu) n.5323A>G c.8281A>G (p.Lys2761Glu) c.7660A>G (p.Lys2554Glu) c.8380A>G (p.Lys2794Glu) c.8878A>G (p.Lys2960Glu) c.6475A>G (p.Lys2159Glu)
2	g.237336219T>G	CA351191171	COL6A3	c.1526A>C c.8263A>C (p.Lys2755Gln) c.1008A>C n.1148A>C c.8881A>C (p.Lys2961Gln) c.7057A>C (p.Lys2353Gln) c.7060A>C (p.Lys2354Gln) n.5323A>C c.8281A>C (p.Lys2761Gln) c.7660A>C (p.Lys2554Gln) c.8380A>C (p.Lys2794Gln) c.8878A>C (p.Lys2960Gln) c.6475A>C (p.Lys2159Gln)
2	g.237336220T>A	CA431700812	COL6A3	c.1525A>T c.8262A>T (p.Ala2754=) c.1007A>T n.1147A>T c.8880A>T (p.Ala2960=) c.7056A>T (p.Ala2352=) c.7059A>T (p.Ala2353=) n.5322A>T c.8280A>T (p.Ala2760=) c.7659A>T (p.Ala2553=) c.8379A>T (p.Ala2793=) c.8877A>T (p.Ala2959=) c.6474A>T (p.Ala2158=)
2	g.237336220T>C	CA431700815	COL6A3	c.1525A>G c.8262A>G (p.Ala2754=) c.1007A>G n.1147A>G c.8880A>G (p.Ala2960=) c.7056A>G (p.Ala2352=) c.7059A>G (p.Ala2353=) n.5322A>G c.8280A>G (p.Ala2760=) c.7659A>G (p.Ala2553=) c.8379A>G (p.Ala2793=) c.8877A>G (p.Ala2959=) c.6474A>G (p.Ala2158=)
2	g.237336220T>G	CA431700818	COL6A3	c.1525A>C c.8262A>C (p.Ala2754=) c.1007A>C n.1147A>C c.8880A>C (p.Ala2960=) c.7056A>C (p.Ala2352=) c.7059A>C (p.Ala2353=) n.5322A>C c.8280A>C (p.Ala2760=) c.7659A>C (p.Ala2553=) c.8379A>C (p.Ala2793=) c.8877A>C (p.Ala2959=) c.6474A>C (p.Ala2158=)
2	g.237336220_237336223delinsTGCA	CA1337607081	COL6A3	c.1522_1525delinsTGCA c.8259_8262delinsTGCA (p.Ala2753=) c.1004_1007delinsTGCA n.1144_1147delinsTGCA c.8877_8880delinsTGCA (p.Ala2959=) c.7053_7056delinsTGCA (p.Ala2351=) c.7056_7059delinsTGCA (p.Ala2352=) n.5319_5322delinsTGCA c.8277_8280delinsTGCA (p.Ala2759=) c.7656_7659delinsTGCA (p.Ala2552=) c.8376_8379delinsTGCA (p.Ala2792=) c.8874_8877delinsTGCA (p.Ala2958=) c.6471_6474delinsTGCA (p.Ala2157=)
2	g.237336221G>A	CA351191174	COL6A3	c.1524C>T c.8261C>T (p.Ala2754Val) c.1006C>T n.1146C>T c.8879C>T (p.Ala2960Val) c.7055C>T (p.Ala2352Val) c.7058C>T (p.Ala2353Val) n.5321C>T c.8279C>T (p.Ala2760Val) c.7658C>T (p.Ala2553Val) c.8378C>T (p.Ala2793Val) c.8876C>T (p.Ala2959Val) c.6473C>T (p.Ala2158Val)
2	g.237336221G>C	CA2187422	COL6A3	c.1524C>G c.8261C>G (p.Ala2754Gly) c.1006C>G n.1146C>G c.8879C>G (p.Ala2960Gly) c.7055C>G (p.Ala2352Gly) c.7058C>G (p.Ala2353Gly) n.5321C>G c.8279C>G (p.Ala2760Gly) c.7658C>G (p.Ala2553Gly) c.8378C>G (p.Ala2793Gly) c.8876C>G (p.Ala2959Gly) c.6473C>G (p.Ala2158Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336221G=	CA1337607082	COL6A3	c.1524C= c.8261C= (p.Ala2754=) c.1006C= n.1146C= c.8879C= (p.Ala2960=) c.7055C= (p.Ala2352=) c.7058C= (p.Ala2353=) n.5321C= c.8279C= (p.Ala2760=) c.7658C= (p.Ala2553=) c.8378C= (p.Ala2793=) c.8876C= (p.Ala2959=) c.6473C= (p.Ala2158=)
2	g.237336221G>T	CA351191175	COL6A3	c.1524C>A c.8261C>A (p.Ala2754Glu) c.1006C>A n.1146C>A c.8879C>A (p.Ala2960Glu) c.7055C>A (p.Ala2352Glu) c.7058C>A (p.Ala2353Glu) n.5321C>A c.8279C>A (p.Ala2760Glu) c.7658C>A (p.Ala2553Glu) c.8378C>A (p.Ala2793Glu) c.8876C>A (p.Ala2959Glu) c.6473C>A (p.Ala2158Glu)	gnomAD v4
2	g.237336232_237336234dup	CA2187421	COL6A3	c.1522_1524dup c.8259_8261dup (p.Ala2754_Lys2755insAla) c.1004_1006dup n.1144_1146dup c.8877_8879dup (p.Ala2960_Lys2961insAla) c.7053_7055dup (p.Ala2352_Lys2353insAla) c.7056_7058dup (p.Ala2353_Lys2354insAla) n.5319_5321dup c.8277_8279dup (p.Ala2760_Lys2761insAla) c.7656_7658dup (p.Ala2553_Lys2554insAla) c.8376_8378dup (p.Ala2793_Lys2794insAla) c.8874_8876dup (p.Ala2959_Lys2960insAla) c.6471_6473dup (p.Ala2158_Lys2159insAla)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336229_237336234dup	CA540749773	COL6A3	c.1519_1524dup c.8256_8261dup (p.Ala2754_Lys2755insAlaAla) c.1001_1006dup n.1141_1146dup c.8874_8879dup (p.Ala2960_Lys2961insAlaAla) c.7050_7055dup (p.Ala2352_Lys2353insAlaAla) c.7053_7058dup (p.Ala2353_Lys2354insAlaAla) n.5316_5321dup c.8274_8279dup (p.Ala2760_Lys2761insAlaAla) c.7653_7658dup (p.Ala2553_Lys2554insAlaAla) c.8373_8378dup (p.Ala2793_Lys2794insAlaAla) c.8871_8876dup (p.Ala2959_Lys2960insAlaAla) c.6468_6473dup (p.Ala2158_Lys2159insAlaAla)	dbSNP gnomAD v2 gnomAD v4
2	g.237336232_237336234del	CA148080	COL6A3	c.1522_1524del c.8259_8261del (p.Ala2754del) c.1004_1006del n.1144_1146del c.8877_8879del (p.Ala2960del) c.7053_7055del (p.Ala2352del) c.7056_7058del (p.Ala2353del) n.5319_5321del c.8277_8279del (p.Ala2760del) c.7656_7658del (p.Ala2553del) c.8376_8378del (p.Ala2793del) c.8874_8876del (p.Ala2959del) c.6471_6473del (p.Ala2158del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.237336222C>A	CA351191176	COL6A3	c.1523G>T c.8260G>T (p.Ala2754Ser) c.1005G>T n.1145G>T c.8878G>T (p.Ala2960Ser) c.7054G>T (p.Ala2352Ser) c.7057G>T (p.Ala2353Ser) n.5320G>T c.8278G>T (p.Ala2760Ser) c.7657G>T (p.Ala2553Ser) c.8377G>T (p.Ala2793Ser) c.8875G>T (p.Ala2959Ser) c.6472G>T (p.Ala2158Ser)
2	g.237336222C>G	CA351191177	COL6A3	c.1523G>C c.8260G>C (p.Ala2754Pro) c.1005G>C n.1145G>C c.8878G>C (p.Ala2960Pro) c.7054G>C (p.Ala2352Pro) c.7057G>C (p.Ala2353Pro) n.5320G>C c.8278G>C (p.Ala2760Pro) c.7657G>C (p.Ala2553Pro) c.8377G>C (p.Ala2793Pro) c.8875G>C (p.Ala2959Pro) c.6472G>C (p.Ala2158Pro)
2	g.237336222C>T	CA351191178	COL6A3	c.1523G>A c.8260G>A (p.Ala2754Thr) c.1005G>A n.1145G>A c.8878G>A (p.Ala2960Thr) c.7054G>A (p.Ala2352Thr) c.7057G>A (p.Ala2353Thr) n.5320G>A c.8278G>A (p.Ala2760Thr) c.7657G>A (p.Ala2553Thr) c.8377G>A (p.Ala2793Thr) c.8875G>A (p.Ala2959Thr) c.6472G>A (p.Ala2158Thr)
2	g.237336223A>C	CA431700842	COL6A3	c.1522T>G c.8259T>G (p.Ala2753=) c.1004T>G n.1144T>G c.8877T>G (p.Ala2959=) c.7053T>G (p.Ala2351=) c.7056T>G (p.Ala2352=) n.5319T>G c.8277T>G (p.Ala2759=) c.7656T>G (p.Ala2552=) c.8376T>G (p.Ala2792=) c.8874T>G (p.Ala2958=) c.6471T>G (p.Ala2157=)
2	g.237336223A>G	CA431700846	COL6A3	c.1522T>C c.8259T>C (p.Ala2753=) c.1004T>C n.1144T>C c.8877T>C (p.Ala2959=) c.7053T>C (p.Ala2351=) c.7056T>C (p.Ala2352=) n.5319T>C c.8277T>C (p.Ala2759=) c.7656T>C (p.Ala2552=) c.8376T>C (p.Ala2792=) c.8874T>C (p.Ala2958=) c.6471T>C (p.Ala2157=)
2	g.237336223A>T	CA431700850	COL6A3	c.1522T>A c.8259T>A (p.Ala2753=) c.1004T>A n.1144T>A c.8877T>A (p.Ala2959=) c.7053T>A (p.Ala2351=) c.7056T>A (p.Ala2352=) n.5319T>A c.8277T>A (p.Ala2759=) c.7656T>A (p.Ala2552=) c.8376T>A (p.Ala2792=) c.8874T>A (p.Ala2958=) c.6471T>A (p.Ala2157=)	gnomAD v4
2	g.237336224G>A	CA351191179	COL6A3	c.1521C>T c.8258C>T (p.Ala2753Val) c.1003C>T n.1143C>T c.8876C>T (p.Ala2959Val) c.7052C>T (p.Ala2351Val) c.7055C>T (p.Ala2352Val) n.5318C>T c.8276C>T (p.Ala2759Val) c.7655C>T (p.Ala2552Val) c.8375C>T (p.Ala2792Val) c.8873C>T (p.Ala2958Val) c.6470C>T (p.Ala2157Val)	COSMIC
2	g.237336224G>C	CA351191180	COL6A3	c.1521C>G c.8258C>G (p.Ala2753Gly) c.1003C>G n.1143C>G c.8876C>G (p.Ala2959Gly) c.7052C>G (p.Ala2351Gly) c.7055C>G (p.Ala2352Gly) n.5318C>G c.8276C>G (p.Ala2759Gly) c.7655C>G (p.Ala2552Gly) c.8375C>G (p.Ala2792Gly) c.8873C>G (p.Ala2958Gly) c.6470C>G (p.Ala2157Gly)
2	g.237336224G>T	CA351191181	COL6A3	c.1521C>A c.8258C>A (p.Ala2753Asp) c.1003C>A n.1143C>A c.8876C>A (p.Ala2959Asp) c.7052C>A (p.Ala2351Asp) c.7055C>A (p.Ala2352Asp) n.5318C>A c.8276C>A (p.Ala2759Asp) c.7655C>A (p.Ala2552Asp) c.8375C>A (p.Ala2792Asp) c.8873C>A (p.Ala2958Asp) c.6470C>A (p.Ala2157Asp)
2	g.237336225C>A	CA2187424	COL6A3	c.1520G>T c.8257G>T (p.Ala2753Ser) c.1002G>T n.1142G>T c.8875G>T (p.Ala2959Ser) c.7051G>T (p.Ala2351Ser) c.7054G>T (p.Ala2352Ser) n.5317G>T c.8275G>T (p.Ala2759Ser) c.7654G>T (p.Ala2552Ser) c.8374G>T (p.Ala2792Ser) c.8872G>T (p.Ala2958Ser) c.6469G>T (p.Ala2157Ser)	ClinVar dbSNP ExAC gnomAD v2
2	g.237336225C=	CA1337607083	COL6A3	c.1520G= c.8257G= (p.Ala2753=) c.1002G= n.1142G= c.8875G= (p.Ala2959=) c.7051G= (p.Ala2351=) c.7054G= (p.Ala2352=) n.5317G= c.8275G= (p.Ala2759=) c.7654G= (p.Ala2552=) c.8374G= (p.Ala2792=) c.8872G= (p.Ala2958=) c.6469G= (p.Ala2157=)
2	g.237336225C>G	CA351191182	COL6A3	c.1520G>C c.8257G>C (p.Ala2753Pro) c.1002G>C n.1142G>C c.8875G>C (p.Ala2959Pro) c.7051G>C (p.Ala2351Pro) c.7054G>C (p.Ala2352Pro) n.5317G>C c.8275G>C (p.Ala2759Pro) c.7654G>C (p.Ala2552Pro) c.8374G>C (p.Ala2792Pro) c.8872G>C (p.Ala2958Pro) c.6469G>C (p.Ala2157Pro)
2	g.237336225C>T	CA2187423	COL6A3	c.1520G>A c.8257G>A (p.Ala2753Thr) c.1002G>A n.1142G>A c.8875G>A (p.Ala2959Thr) c.7051G>A (p.Ala2351Thr) c.7054G>A (p.Ala2352Thr) n.5317G>A c.8275G>A (p.Ala2759Thr) c.7654G>A (p.Ala2552Thr) c.8374G>A (p.Ala2792Thr) c.8872G>A (p.Ala2958Thr) c.6469G>A (p.Ala2157Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336226A>C	CA431700887	COL6A3	c.1519T>G c.8256T>G (p.Ala2752=) c.1001T>G n.1141T>G c.8874T>G (p.Ala2958=) c.7050T>G (p.Ala2350=) c.7053T>G (p.Ala2351=) n.5316T>G c.8274T>G (p.Ala2758=) c.7653T>G (p.Ala2551=) c.8373T>G (p.Ala2791=) c.8871T>G (p.Ala2957=) c.6468T>G (p.Ala2156=)
2	g.237336226A>G	CA431700893	COL6A3	c.1519T>C c.8256T>C (p.Ala2752=) c.1001T>C n.1141T>C c.8874T>C (p.Ala2958=) c.7050T>C (p.Ala2350=) c.7053T>C (p.Ala2351=) n.5316T>C c.8274T>C (p.Ala2758=) c.7653T>C (p.Ala2551=) c.8373T>C (p.Ala2791=) c.8871T>C (p.Ala2957=) c.6468T>C (p.Ala2156=)	gnomAD v4
2	g.237336226A>T	CA431700890	COL6A3	c.1519T>A c.8256T>A (p.Ala2752=) c.1001T>A n.1141T>A c.8874T>A (p.Ala2958=) c.7050T>A (p.Ala2350=) c.7053T>A (p.Ala2351=) n.5316T>A c.8274T>A (p.Ala2758=) c.7653T>A (p.Ala2551=) c.8373T>A (p.Ala2791=) c.8871T>A (p.Ala2957=) c.6468T>A (p.Ala2156=)
2	g.237336227G>A	CA351191183	COL6A3	c.1518C>T c.8255C>T (p.Ala2752Val) c.1000C>T n.1140C>T c.8873C>T (p.Ala2958Val) c.7049C>T (p.Ala2350Val) c.7052C>T (p.Ala2351Val) n.5315C>T c.8273C>T (p.Ala2758Val) c.7652C>T (p.Ala2551Val) c.8372C>T (p.Ala2791Val) c.8870C>T (p.Ala2957Val) c.6467C>T (p.Ala2156Val)
2	g.237336227G>C	CA351191184	COL6A3	c.1518C>G c.8255C>G (p.Ala2752Gly) c.1000C>G n.1140C>G c.8873C>G (p.Ala2958Gly) c.7049C>G (p.Ala2350Gly) c.7052C>G (p.Ala2351Gly) n.5315C>G c.8273C>G (p.Ala2758Gly) c.7652C>G (p.Ala2551Gly) c.8372C>G (p.Ala2791Gly) c.8870C>G (p.Ala2957Gly) c.6467C>G (p.Ala2156Gly)
2	g.237336227G=	CA1337607084	COL6A3	c.1518C= c.8255C= (p.Ala2752=) c.1000C= n.1140C= c.8873C= (p.Ala2958=) c.7049C= (p.Ala2350=) c.7052C= (p.Ala2351=) n.5315C= c.8273C= (p.Ala2758=) c.7652C= (p.Ala2551=) c.8372C= (p.Ala2791=) c.8870C= (p.Ala2957=) c.6467C= (p.Ala2156=)
2	g.237336227G>T	CA351191185	COL6A3	c.1518C>A c.8255C>A (p.Ala2752Asp) c.1000C>A n.1140C>A c.8873C>A (p.Ala2958Asp) c.7049C>A (p.Ala2350Asp) c.7052C>A (p.Ala2351Asp) n.5315C>A c.8273C>A (p.Ala2758Asp) c.7652C>A (p.Ala2551Asp) c.8372C>A (p.Ala2791Asp) c.8870C>A (p.Ala2957Asp) c.6467C>A (p.Ala2156Asp)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336228C>A	CA351191188	COL6A3	c.1517G>T c.8254G>T (p.Ala2752Ser) c.999G>T n.1139G>T c.8872G>T (p.Ala2958Ser) c.7048G>T (p.Ala2350Ser) c.7051G>T (p.Ala2351Ser) n.5314G>T c.8272G>T (p.Ala2758Ser) c.7651G>T (p.Ala2551Ser) c.8371G>T (p.Ala2791Ser) c.8869G>T (p.Ala2957Ser) c.6466G>T (p.Ala2156Ser)
2	g.237336228C=	CA1337607085	COL6A3	c.1517G= c.8254G= (p.Ala2752=) c.999G= n.1139G= c.8872G= (p.Ala2958=) c.7048G= (p.Ala2350=) c.7051G= (p.Ala2351=) n.5314G= c.8272G= (p.Ala2758=) c.7651G= (p.Ala2551=) c.8371G= (p.Ala2791=) c.8869G= (p.Ala2957=) c.6466G= (p.Ala2156=)
2	g.237336228C>G	CA351191187	COL6A3	c.1517G>C c.8254G>C (p.Ala2752Pro) c.999G>C n.1139G>C c.8872G>C (p.Ala2958Pro) c.7048G>C (p.Ala2350Pro) c.7051G>C (p.Ala2351Pro) n.5314G>C c.8272G>C (p.Ala2758Pro) c.7651G>C (p.Ala2551Pro) c.8371G>C (p.Ala2791Pro) c.8869G>C (p.Ala2957Pro) c.6466G>C (p.Ala2156Pro)
2	g.237336228C>T	CA351191186	COL6A3	c.1517G>A c.8254G>A (p.Ala2752Thr) c.999G>A n.1139G>A c.8872G>A (p.Ala2958Thr) c.7048G>A (p.Ala2350Thr) c.7051G>A (p.Ala2351Thr) n.5314G>A c.8272G>A (p.Ala2758Thr) c.7651G>A (p.Ala2551Thr) c.8371G>A (p.Ala2791Thr) c.8869G>A (p.Ala2957Thr) c.6466G>A (p.Ala2156Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.237336229A=	CA1337607086	COL6A3	c.1516T= c.8253T= (p.Ala2751=) c.998T= n.1138T= c.8871T= (p.Ala2957=) c.7047T= (p.Ala2349=) c.7050T= (p.Ala2350=) n.5313T= c.8271T= (p.Ala2757=) c.7650T= (p.Ala2550=) c.8370T= (p.Ala2790=) c.8868T= (p.Ala2956=) c.6465T= (p.Ala2155=)
2	g.237336229A>C	CA431700924	COL6A3	c.1516T>G c.8253T>G (p.Ala2751=) c.998T>G n.1138T>G c.8871T>G (p.Ala2957=) c.7047T>G (p.Ala2349=) c.7050T>G (p.Ala2350=) n.5313T>G c.8271T>G (p.Ala2757=) c.7650T>G (p.Ala2550=) c.8370T>G (p.Ala2790=) c.8868T>G (p.Ala2956=) c.6465T>G (p.Ala2155=)
2	g.237336229A>G	CA431700917	COL6A3	c.1516T>C c.8253T>C (p.Ala2751=) c.998T>C n.1138T>C c.8871T>C (p.Ala2957=) c.7047T>C (p.Ala2349=) c.7050T>C (p.Ala2350=) n.5313T>C c.8271T>C (p.Ala2757=) c.7650T>C (p.Ala2550=) c.8370T>C (p.Ala2790=) c.8868T>C (p.Ala2956=) c.6465T>C (p.Ala2155=)	dbSNP
2	g.237336229A>T	CA431700921	COL6A3	c.1516T>A c.8253T>A (p.Ala2751=) c.998T>A n.1138T>A c.8871T>A (p.Ala2957=) c.7047T>A (p.Ala2349=) c.7050T>A (p.Ala2350=) n.5313T>A c.8271T>A (p.Ala2757=) c.7650T>A (p.Ala2550=) c.8370T>A (p.Ala2790=) c.8868T>A (p.Ala2956=) c.6465T>A (p.Ala2155=)
2	g.237336230G>A	CA351191189	COL6A3	c.1515C>T c.8252C>T (p.Ala2751Val) c.997C>T n.1137C>T c.8870C>T (p.Ala2957Val) c.7046C>T (p.Ala2349Val) c.7049C>T (p.Ala2350Val) n.5312C>T c.8270C>T (p.Ala2757Val) c.7649C>T (p.Ala2550Val) c.8369C>T (p.Ala2790Val) c.8867C>T (p.Ala2956Val) c.6464C>T (p.Ala2155Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336230G>C	CA351191190	COL6A3	c.1515C>G c.8252C>G (p.Ala2751Gly) c.997C>G n.1137C>G c.8870C>G (p.Ala2957Gly) c.7046C>G (p.Ala2349Gly) c.7049C>G (p.Ala2350Gly) n.5312C>G c.8270C>G (p.Ala2757Gly) c.7649C>G (p.Ala2550Gly) c.8369C>G (p.Ala2790Gly) c.8867C>G (p.Ala2956Gly) c.6464C>G (p.Ala2155Gly)	gnomAD v4
2	g.237336230G=	CA1337607087	COL6A3	c.1515C= c.8252C= (p.Ala2751=) c.997C= n.1137C= c.8870C= (p.Ala2957=) c.7046C= (p.Ala2349=) c.7049C= (p.Ala2350=) n.5312C= c.8270C= (p.Ala2757=) c.7649C= (p.Ala2550=) c.8369C= (p.Ala2790=) c.8867C= (p.Ala2956=) c.6464C= (p.Ala2155=)
2	g.237336230G>T	CA351191191	COL6A3	c.1515C>A c.8252C>A (p.Ala2751Asp) c.997C>A n.1137C>A c.8870C>A (p.Ala2957Asp) c.7046C>A (p.Ala2349Asp) c.7049C>A (p.Ala2350Asp) n.5312C>A c.8270C>A (p.Ala2757Asp) c.7649C>A (p.Ala2550Asp) c.8369C>A (p.Ala2790Asp) c.8867C>A (p.Ala2956Asp) c.6464C>A (p.Ala2155Asp)
2	g.237336231C>A	CA351191192	COL6A3	c.1514G>T c.8251G>T (p.Ala2751Ser) c.996G>T n.1136G>T c.8869G>T (p.Ala2957Ser) c.7045G>T (p.Ala2349Ser) c.7048G>T (p.Ala2350Ser) n.5311G>T c.8269G>T (p.Ala2757Ser) c.7648G>T (p.Ala2550Ser) c.8368G>T (p.Ala2790Ser) c.8866G>T (p.Ala2956Ser) c.6463G>T (p.Ala2155Ser)
2	g.237336231C=	CA1337607089	COL6A3	c.1514G= c.8251G= (p.Ala2751=) c.996G= n.1136G= c.8869G= (p.Ala2957=) c.7045G= (p.Ala2349=) c.7048G= (p.Ala2350=) n.5311G= c.8269G= (p.Ala2757=) c.7648G= (p.Ala2550=) c.8368G= (p.Ala2790=) c.8866G= (p.Ala2956=) c.6463G= (p.Ala2155=)
2	g.237336231C>G	CA351191193	COL6A3	c.1514G>C c.8251G>C (p.Ala2751Pro) c.996G>C n.1136G>C c.8869G>C (p.Ala2957Pro) c.7045G>C (p.Ala2349Pro) c.7048G>C (p.Ala2350Pro) n.5311G>C c.8269G>C (p.Ala2757Pro) c.7648G>C (p.Ala2550Pro) c.8368G>C (p.Ala2790Pro) c.8866G>C (p.Ala2956Pro) c.6463G>C (p.Ala2155Pro)
2	g.237336231C>T	CA351191194	COL6A3	c.1514G>A c.8251G>A (p.Ala2751Thr) c.996G>A n.1136G>A c.8869G>A (p.Ala2957Thr) c.7045G>A (p.Ala2349Thr) c.7048G>A (p.Ala2350Thr) n.5311G>A c.8269G>A (p.Ala2757Thr) c.7648G>A (p.Ala2550Thr) c.8368G>A (p.Ala2790Thr) c.8866G>A (p.Ala2956Thr) c.6463G>A (p.Ala2155Thr)	ClinVar dbSNP
2	g.237336231_237336232delinsCA	CA1337607088	COL6A3	c.1513_1514delinsTG c.8250_8251delinsTG (p.Ala2750=) c.995_996delinsTG n.1135_1136delinsTG c.8868_8869delinsTG (p.Ala2956=) c.7044_7045delinsTG (p.Ala2348=) c.7047_7048delinsTG (p.Ala2349=) n.5310_5311delinsTG c.8268_8269delinsTG (p.Ala2756=) c.7647_7648delinsTG (p.Ala2549=) c.8367_8368delinsTG (p.Ala2789=) c.8865_8866delinsTG (p.Ala2955=) c.6462_6463delinsTG (p.Ala2154=)
2	g.237336232del	CA916807163	COL6A3	c.1513del c.8250del (p.Ala2751LeufsTer?) c.995del n.1135del c.8868del (p.Ala2957LeufsTer?) c.7044del (p.Ala2349LeufsTer?) c.7047del (p.Ala2350LeufsTer?) n.5310del c.8268del (p.Ala2757LeufsTer?) c.7647del (p.Ala2550LeufsTer?) c.8367del (p.Ala2790LeufsTer?) c.8865del (p.Ala2956LeufsTer?) c.6462del (p.Ala2155LeufsTer?)	dbSNP
2	g.237336232A=	CA1337607090	COL6A3	c.1513T= c.8250T= (p.Ala2750=) c.995T= n.1135T= c.8868T= (p.Ala2956=) c.7044T= (p.Ala2348=) c.7047T= (p.Ala2349=) n.5310T= c.8268T= (p.Ala2756=) c.7647T= (p.Ala2549=) c.8367T= (p.Ala2789=) c.8865T= (p.Ala2955=) c.6462T= (p.Ala2154=)
2	g.237336232A>C	CA431700943	COL6A3	c.1513T>G c.8250T>G (p.Ala2750=) c.995T>G n.1135T>G c.8868T>G (p.Ala2956=) c.7044T>G (p.Ala2348=) c.7047T>G (p.Ala2349=) n.5310T>G c.8268T>G (p.Ala2756=) c.7647T>G (p.Ala2549=) c.8367T>G (p.Ala2789=) c.8865T>G (p.Ala2955=) c.6462T>G (p.Ala2154=)
2	g.237336232A>G	CA2187426	COL6A3	c.1513T>C c.8250T>C (p.Ala2750=) c.995T>C n.1135T>C c.8868T>C (p.Ala2956=) c.7044T>C (p.Ala2348=) c.7047T>C (p.Ala2349=) n.5310T>C c.8268T>C (p.Ala2756=) c.7647T>C (p.Ala2549=) c.8367T>C (p.Ala2789=) c.8865T>C (p.Ala2955=) c.6462T>C (p.Ala2154=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336232A>T	CA431700950	COL6A3	c.1513T>A c.8250T>A (p.Ala2750=) c.995T>A n.1135T>A c.8868T>A (p.Ala2956=) c.7044T>A (p.Ala2348=) c.7047T>A (p.Ala2349=) n.5310T>A c.8268T>A (p.Ala2756=) c.7647T>A (p.Ala2549=) c.8367T>A (p.Ala2789=) c.8865T>A (p.Ala2955=) c.6462T>A (p.Ala2154=)	gnomAD v4
2	g.237336232_237336233del	CA2663792156	COL6A3	c.1512_1513del c.8249_8250del (p.Ala2750GlyfsTer12) c.994_995del n.1134_1135del c.8867_8868del (p.Ala2956GlyfsTer12) c.7043_7044del (p.Ala2348GlyfsTer12) c.7046_7047del (p.Ala2349GlyfsTer12) n.5309_5310del c.8267_8268del (p.Ala2756GlyfsTer12) c.7646_7647del (p.Ala2549GlyfsTer12) c.8366_8367del (p.Ala2789GlyfsTer12) c.8864_8865del (p.Ala2955GlyfsTer12) c.6461_6462del (p.Ala2154GlyfsTer12)	gnomAD v4
2	g.237336232_237336235delinsAGCG	CA1337607091	COL6A3	c.1510_1513delinsCGCT c.8247_8250delinsCGCT (p.Pro2749=) c.992_995delinsCGCT n.1132_1135delinsCGCT c.8865_8868delinsCGCT (p.Pro2955=) c.7041_7044delinsCGCT (p.Pro2347=) c.7044_7047delinsCGCT (p.Pro2348=) n.5307_5310delinsCGCT c.8265_8268delinsCGCT (p.Pro2755=) c.7644_7647delinsCGCT (p.Pro2548=) c.8364_8367delinsCGCT (p.Pro2788=) c.8862_8865delinsCGCT (p.Pro2954=) c.6459_6462delinsCGCT (p.Pro2153=)
2	g.237336233G>A	CA351191195	COL6A3	c.1512C>T c.8249C>T (p.Ala2750Val) c.994C>T n.1134C>T c.8867C>T (p.Ala2956Val) c.7043C>T (p.Ala2348Val) c.7046C>T (p.Ala2349Val) n.5309C>T c.8267C>T (p.Ala2756Val) c.7646C>T (p.Ala2549Val) c.8366C>T (p.Ala2789Val) c.8864C>T (p.Ala2955Val) c.6461C>T (p.Ala2154Val)
2	g.237336233G>C	CA351191196	COL6A3	c.1512C>G c.8249C>G (p.Ala2750Gly) c.994C>G n.1134C>G c.8867C>G (p.Ala2956Gly) c.7043C>G (p.Ala2348Gly) c.7046C>G (p.Ala2349Gly) n.5309C>G c.8267C>G (p.Ala2756Gly) c.7646C>G (p.Ala2549Gly) c.8366C>G (p.Ala2789Gly) c.8864C>G (p.Ala2955Gly) c.6461C>G (p.Ala2154Gly)
2	g.237336233G>T	CA351191197	COL6A3	c.1512C>A c.8249C>A (p.Ala2750Asp) c.994C>A n.1134C>A c.8867C>A (p.Ala2956Asp) c.7043C>A (p.Ala2348Asp) c.7046C>A (p.Ala2349Asp) n.5309C>A c.8267C>A (p.Ala2756Asp) c.7646C>A (p.Ala2549Asp) c.8366C>A (p.Ala2789Asp) c.8864C>A (p.Ala2955Asp) c.6461C>A (p.Ala2154Asp)
2	g.237336234_237336235dup	CA916807164	COL6A3	c.1511_1512dup c.8248_8249dup (p.Ala2751LeufsTer?) c.993_994dup n.1133_1134dup c.8866_8867dup (p.Ala2957LeufsTer?) c.7042_7043dup (p.Ala2349LeufsTer?) c.7045_7046dup (p.Ala2350LeufsTer?) n.5308_5309dup c.8266_8267dup (p.Ala2757LeufsTer?) c.7645_7646dup (p.Ala2550LeufsTer?) c.8365_8366dup (p.Ala2790LeufsTer?) c.8863_8864dup (p.Ala2956LeufsTer?) c.6460_6461dup (p.Ala2155LeufsTer?)	dbSNP
2	g.237336234_237336236del	CA2187425	COL6A3	c.1510_1512del c.8247_8249del (p.Ala2750del) c.992_994del n.1132_1134del c.8865_8867del (p.Ala2956del) c.7041_7043del (p.Ala2348del) c.7044_7046del (p.Ala2349del) n.5307_5309del c.8265_8267del (p.Ala2756del) c.7644_7646del (p.Ala2549del) c.8364_8366del (p.Ala2789del) c.8862_8864del (p.Ala2955del) c.6459_6461del (p.Ala2154del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336234del	CA2580066107	COL6A3	c.1511del c.8248del (p.Ala2750LeufsTer?) c.993del n.1133del c.8866del (p.Ala2956LeufsTer?) c.7042del (p.Ala2348LeufsTer?) c.7045del (p.Ala2349LeufsTer?) n.5308del c.8266del (p.Ala2756LeufsTer?) c.7645del (p.Ala2549LeufsTer?) c.8365del (p.Ala2789LeufsTer?) c.8863del (p.Ala2955LeufsTer?) c.6460del (p.Ala2154LeufsTer?)	ClinVar
2	g.237336234C>A	CA351191198	COL6A3	c.1511G>T c.8248G>T (p.Ala2750Ser) c.993G>T n.1133G>T c.8866G>T (p.Ala2956Ser) c.7042G>T (p.Ala2348Ser) c.7045G>T (p.Ala2349Ser) n.5308G>T c.8266G>T (p.Ala2756Ser) c.7645G>T (p.Ala2549Ser) c.8365G>T (p.Ala2789Ser) c.8863G>T (p.Ala2955Ser) c.6460G>T (p.Ala2154Ser)	gnomAD v4
2	g.237336234C=	CA1337607092	COL6A3	c.1511G= c.8248G= (p.Ala2750=) c.993G= n.1133G= c.8866G= (p.Ala2956=) c.7042G= (p.Ala2348=) c.7045G= (p.Ala2349=) n.5308G= c.8266G= (p.Ala2756=) c.7645G= (p.Ala2549=) c.8365G= (p.Ala2789=) c.8863G= (p.Ala2955=) c.6460G= (p.Ala2154=)
2	g.237336234C>G	CA67830406	COL6A3	c.1511G>C c.8248G>C (p.Ala2750Pro) c.993G>C n.1133G>C c.8866G>C (p.Ala2956Pro) c.7042G>C (p.Ala2348Pro) c.7045G>C (p.Ala2349Pro) n.5308G>C c.8266G>C (p.Ala2756Pro) c.7645G>C (p.Ala2549Pro) c.8365G>C (p.Ala2789Pro) c.8863G>C (p.Ala2955Pro) c.6460G>C (p.Ala2154Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336234C>T	CA2187427	COL6A3	c.1511G>A c.8248G>A (p.Ala2750Thr) c.993G>A n.1133G>A c.8866G>A (p.Ala2956Thr) c.7042G>A (p.Ala2348Thr) c.7045G>A (p.Ala2349Thr) n.5308G>A c.8266G>A (p.Ala2756Thr) c.7645G>A (p.Ala2549Thr) c.8365G>A (p.Ala2789Thr) c.8863G>A (p.Ala2955Thr) c.6460G>A (p.Ala2154Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.237336235G>A	CA2187428	COL6A3	c.1510C>T c.8247C>T (p.Pro2749=) c.992C>T n.1132C>T c.8865C>T (p.Pro2955=) c.7041C>T (p.Pro2347=) c.7044C>T (p.Pro2348=) n.5307C>T c.8265C>T (p.Pro2755=) c.7644C>T (p.Pro2548=) c.8364C>T (p.Pro2788=) c.8862C>T (p.Pro2954=) c.6459C>T (p.Pro2153=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336235G>C	CA431700968	COL6A3	c.1510C>G c.8247C>G (p.Pro2749=) c.992C>G n.1132C>G c.8865C>G (p.Pro2955=) c.7041C>G (p.Pro2347=) c.7044C>G (p.Pro2348=) n.5307C>G c.8265C>G (p.Pro2755=) c.7644C>G (p.Pro2548=) c.8364C>G (p.Pro2788=) c.8862C>G (p.Pro2954=) c.6459C>G (p.Pro2153=)	dbSNP gnomAD v3 gnomAD v4
2	g.237336235G=	CA1337607093	COL6A3	c.1510C= c.8247C= (p.Pro2749=) c.992C= n.1132C= c.8865C= (p.Pro2955=) c.7041C= (p.Pro2347=) c.7044C= (p.Pro2348=) n.5307C= c.8265C= (p.Pro2755=) c.7644C= (p.Pro2548=) c.8364C= (p.Pro2788=) c.8862C= (p.Pro2954=) c.6459C= (p.Pro2153=)
2	g.237336235G>T	CA431700971	COL6A3	c.1510C>A c.8247C>A (p.Pro2749=) c.992C>A n.1132C>A c.8865C>A (p.Pro2955=) c.7041C>A (p.Pro2347=) c.7044C>A (p.Pro2348=) n.5307C>A c.8265C>A (p.Pro2755=) c.7644C>A (p.Pro2548=) c.8364C>A (p.Pro2788=) c.8862C>A (p.Pro2954=) c.6459C>A (p.Pro2153=)	dbSNP gnomAD v4
2	g.237336240dup	CA1337607094	COL6A3	c.1510dup c.8247dup (p.Ala2750ArgfsTer13) c.992dup n.1132dup c.8865dup (p.Ala2956ArgfsTer13) c.7041dup (p.Ala2348ArgfsTer13) c.7044dup (p.Ala2349ArgfsTer13) n.5307dup c.8265dup (p.Ala2756ArgfsTer13) c.7644dup (p.Ala2549ArgfsTer13) c.8364dup (p.Ala2789ArgfsTer13) c.8862dup (p.Ala2955ArgfsTer13) c.6459dup (p.Ala2154ArgfsTer13)	dbSNP gnomAD v4
2	g.237336240del	CA2663792157	COL6A3	c.1510del c.8247del (p.Ala2750LeufsTer?) c.992del n.1132del c.8865del (p.Ala2956LeufsTer?) c.7041del (p.Ala2348LeufsTer?) c.7044del (p.Ala2349LeufsTer?) n.5307del c.8265del (p.Ala2756LeufsTer?) c.7644del (p.Ala2549LeufsTer?) c.8364del (p.Ala2789LeufsTer?) c.8862del (p.Ala2955LeufsTer?) c.6459del (p.Ala2154LeufsTer?)	gnomAD v4
2	g.237336236G>A	CA351191199	COL6A3	c.1509C>T c.8246C>T (p.Pro2749Leu) c.991C>T n.1131C>T c.8864C>T (p.Pro2955Leu) c.7040C>T (p.Pro2347Leu) c.7043C>T (p.Pro2348Leu) n.5306C>T c.8264C>T (p.Pro2755Leu) c.7643C>T (p.Pro2548Leu) c.8363C>T (p.Pro2788Leu) c.8861C>T (p.Pro2954Leu) c.6458C>T (p.Pro2153Leu)
2	g.237336236G>C	CA351191200	COL6A3	c.1509C>G c.8246C>G (p.Pro2749Arg) c.991C>G n.1131C>G c.8864C>G (p.Pro2955Arg) c.7040C>G (p.Pro2347Arg) c.7043C>G (p.Pro2348Arg) n.5306C>G c.8264C>G (p.Pro2755Arg) c.7643C>G (p.Pro2548Arg) c.8363C>G (p.Pro2788Arg) c.8861C>G (p.Pro2954Arg) c.6458C>G (p.Pro2153Arg)
2	g.237336236G>T	CA351191201	COL6A3	c.1509C>A c.8246C>A (p.Pro2749His) c.991C>A n.1131C>A c.8864C>A (p.Pro2955His) c.7040C>A (p.Pro2347His) c.7043C>A (p.Pro2348His) n.5306C>A c.8264C>A (p.Pro2755His) c.7643C>A (p.Pro2548His) c.8363C>A (p.Pro2788His) c.8861C>A (p.Pro2954His) c.6458C>A (p.Pro2153His)
2	g.237336237G>A	CA351191202	COL6A3	c.1508C>T c.8245C>T (p.Pro2749Ser) c.990C>T n.1130C>T c.8863C>T (p.Pro2955Ser) c.7039C>T (p.Pro2347Ser) c.7042C>T (p.Pro2348Ser) n.5305C>T c.8263C>T (p.Pro2755Ser) c.7642C>T (p.Pro2548Ser) c.8362C>T (p.Pro2788Ser) c.8860C>T (p.Pro2954Ser) c.6457C>T (p.Pro2153Ser)	ClinVar dbSNP gnomAD v4
2	g.237336237G>C	CA351191203	COL6A3	c.1508C>G c.8245C>G (p.Pro2749Ala) c.990C>G n.1130C>G c.8863C>G (p.Pro2955Ala) c.7039C>G (p.Pro2347Ala) c.7042C>G (p.Pro2348Ala) n.5305C>G c.8263C>G (p.Pro2755Ala) c.7642C>G (p.Pro2548Ala) c.8362C>G (p.Pro2788Ala) c.8860C>G (p.Pro2954Ala) c.6457C>G (p.Pro2153Ala)	gnomAD v4
2	g.237336237G=	CA1337607095	COL6A3	c.1508C= c.8245C= (p.Pro2749=) c.990C= n.1130C= c.8863C= (p.Pro2955=) c.7039C= (p.Pro2347=) c.7042C= (p.Pro2348=) n.5305C= c.8263C= (p.Pro2755=) c.7642C= (p.Pro2548=) c.8362C= (p.Pro2788=) c.8860C= (p.Pro2954=) c.6457C= (p.Pro2153=)
2	g.237336237G>T	CA351191204	COL6A3	c.1508C>A c.8245C>A (p.Pro2749Thr) c.990C>A n.1130C>A c.8863C>A (p.Pro2955Thr) c.7039C>A (p.Pro2347Thr) c.7042C>A (p.Pro2348Thr) n.5305C>A c.8263C>A (p.Pro2755Thr) c.7642C>A (p.Pro2548Thr) c.8362C>A (p.Pro2788Thr) c.8860C>A (p.Pro2954Thr) c.6457C>A (p.Pro2153Thr)	gnomAD v4
2	g.237336238G>A	CA431700996	COL6A3	c.1507C>T c.8244C>T (p.Pro2748=) c.989C>T n.1129C>T c.8862C>T (p.Pro2954=) c.7038C>T (p.Pro2346=) c.7041C>T (p.Pro2347=) n.5304C>T c.8262C>T (p.Pro2754=) c.7641C>T (p.Pro2547=) c.8361C>T (p.Pro2787=) c.8859C>T (p.Pro2953=) c.6456C>T (p.Pro2152=)	ClinVar dbSNP
2	g.237336238G>C	CA431701011	COL6A3	c.1507C>G c.8244C>G (p.Pro2748=) c.989C>G n.1129C>G c.8862C>G (p.Pro2954=) c.7038C>G (p.Pro2346=) c.7041C>G (p.Pro2347=) n.5304C>G c.8262C>G (p.Pro2754=) c.7641C>G (p.Pro2547=) c.8361C>G (p.Pro2787=) c.8859C>G (p.Pro2953=) c.6456C>G (p.Pro2152=)
2	g.237336238G>T	CA431701016	COL6A3	c.1507C>A c.8244C>A (p.Pro2748=) c.989C>A n.1129C>A c.8862C>A (p.Pro2954=) c.7038C>A (p.Pro2346=) c.7041C>A (p.Pro2347=) n.5304C>A c.8262C>A (p.Pro2754=) c.7641C>A (p.Pro2547=) c.8361C>A (p.Pro2787=) c.8859C>A (p.Pro2953=) c.6456C>A (p.Pro2152=)
2	g.237336239G>A	CA2187429	COL6A3	c.1506C>T c.8243C>T (p.Pro2748Leu) c.988C>T n.1128C>T c.8861C>T (p.Pro2954Leu) c.7037C>T (p.Pro2346Leu) c.7040C>T (p.Pro2347Leu) n.5303C>T c.8261C>T (p.Pro2754Leu) c.7640C>T (p.Pro2547Leu) c.8360C>T (p.Pro2787Leu) c.8858C>T (p.Pro2953Leu) c.6455C>T (p.Pro2152Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336239G>C	CA351191205	COL6A3	c.1506C>G c.8243C>G (p.Pro2748Arg) c.988C>G n.1128C>G c.8861C>G (p.Pro2954Arg) c.7037C>G (p.Pro2346Arg) c.7040C>G (p.Pro2347Arg) n.5303C>G c.8261C>G (p.Pro2754Arg) c.7640C>G (p.Pro2547Arg) c.8360C>G (p.Pro2787Arg) c.8858C>G (p.Pro2953Arg) c.6455C>G (p.Pro2152Arg)
2	g.237336239G=	CA1337607096	COL6A3	c.1506C= c.8243C= (p.Pro2748=) c.988C= n.1128C= c.8861C= (p.Pro2954=) c.7037C= (p.Pro2346=) c.7040C= (p.Pro2347=) n.5303C= c.8261C= (p.Pro2754=) c.7640C= (p.Pro2547=) c.8360C= (p.Pro2787=) c.8858C= (p.Pro2953=) c.6455C= (p.Pro2152=)
2	g.237336239G>T	CA351191206	COL6A3	c.1506C>A c.8243C>A (p.Pro2748His) c.988C>A n.1128C>A c.8861C>A (p.Pro2954His) c.7037C>A (p.Pro2346His) c.7040C>A (p.Pro2347His) n.5303C>A c.8261C>A (p.Pro2754His) c.7640C>A (p.Pro2547His) c.8360C>A (p.Pro2787His) c.8858C>A (p.Pro2953His) c.6455C>A (p.Pro2152His)	ClinVar dbSNP gnomAD v4
2	g.237336240G>A	CA67830434	COL6A3	c.1505C>T c.8242C>T (p.Pro2748Ser) c.987C>T n.1127C>T c.8860C>T (p.Pro2954Ser) c.7036C>T (p.Pro2346Ser) c.7039C>T (p.Pro2347Ser) n.5302C>T c.8260C>T (p.Pro2754Ser) c.7639C>T (p.Pro2547Ser) c.8359C>T (p.Pro2787Ser) c.8857C>T (p.Pro2953Ser) c.6454C>T (p.Pro2152Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.237336240G>C	CA351191207	COL6A3	c.1505C>G c.8242C>G (p.Pro2748Ala) c.987C>G n.1127C>G c.8860C>G (p.Pro2954Ala) c.7036C>G (p.Pro2346Ala) c.7039C>G (p.Pro2347Ala) n.5302C>G c.8260C>G (p.Pro2754Ala) c.7639C>G (p.Pro2547Ala) c.8359C>G (p.Pro2787Ala) c.8857C>G (p.Pro2953Ala) c.6454C>G (p.Pro2152Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.237336240G=	CA1337607097	COL6A3	c.1505C= c.8242C= (p.Pro2748=) c.987C= n.1127C= c.8860C= (p.Pro2954=) c.7036C= (p.Pro2346=) c.7039C= (p.Pro2347=) n.5302C= c.8260C= (p.Pro2754=) c.7639C= (p.Pro2547=) c.8359C= (p.Pro2787=) c.8857C= (p.Pro2953=) c.6454C= (p.Pro2152=)
2	g.237336240G>T	CA351191208	COL6A3	c.1505C>A c.8242C>A (p.Pro2748Thr) c.987C>A n.1127C>A c.8860C>A (p.Pro2954Thr) c.7036C>A (p.Pro2346Thr) c.7039C>A (p.Pro2347Thr) n.5302C>A c.8260C>A (p.Pro2754Thr) c.7639C>A (p.Pro2547Thr) c.8359C>A (p.Pro2787Thr) c.8857C>A (p.Pro2953Thr) c.6454C>A (p.Pro2152Thr)	dbSNP gnomAD v4
2	g.237336241T>A	CA351191209	COL6A3	c.1504A>T c.8241A>T (p.Arg2747Ser) c.986A>T n.1126A>T c.8859A>T (p.Arg2953Ser) c.7035A>T (p.Arg2345Ser) c.7038A>T (p.Arg2346Ser) n.5301A>T c.8259A>T (p.Arg2753Ser) c.7638A>T (p.Arg2546Ser) c.8358A>T (p.Arg2786Ser) c.8856A>T (p.Arg2952Ser) c.6453A>T (p.Arg2151Ser)
2	g.237336241T>C	CA431701042	COL6A3	c.1504A>G c.8241A>G (p.Arg2747=) c.986A>G n.1126A>G c.8859A>G (p.Arg2953=) c.7035A>G (p.Arg2345=) c.7038A>G (p.Arg2346=) n.5301A>G c.8259A>G (p.Arg2753=) c.7638A>G (p.Arg2546=) c.8358A>G (p.Arg2786=) c.8856A>G (p.Arg2952=) c.6453A>G (p.Arg2151=)
2	g.237336241T>G	CA351191210	COL6A3	c.1504A>C c.8241A>C (p.Arg2747Ser) c.986A>C n.1126A>C c.8859A>C (p.Arg2953Ser) c.7035A>C (p.Arg2345Ser) c.7038A>C (p.Arg2346Ser) n.5301A>C c.8259A>C (p.Arg2753Ser) c.7638A>C (p.Arg2546Ser) c.8358A>C (p.Arg2786Ser) c.8856A>C (p.Arg2952Ser) c.6453A>C (p.Arg2151Ser)	dbSNP
2	g.237336241T=	CA1337607098	COL6A3	c.1504A= c.8241A= (p.Arg2747=) c.986A= n.1126A= c.8859A= (p.Arg2953=) c.7035A= (p.Arg2345=) c.7038A= (p.Arg2346=) n.5301A= c.8259A= (p.Arg2753=) c.7638A= (p.Arg2546=) c.8358A= (p.Arg2786=) c.8856A= (p.Arg2952=) c.6453A= (p.Arg2151=)
2	g.237336242C>A	CA351191211	COL6A3	c.1503G>T c.8240G>T (p.Arg2747Ile) c.985G>T n.1125G>T c.8858G>T (p.Arg2953Ile) c.7034G>T (p.Arg2345Ile) c.7037G>T (p.Arg2346Ile) n.5300G>T c.8258G>T (p.Arg2753Ile) c.7637G>T (p.Arg2546Ile) c.8357G>T (p.Arg2786Ile) c.8855G>T (p.Arg2952Ile) c.6452G>T (p.Arg2151Ile)
2	g.237336242C>G	CA351191212	COL6A3	c.1503G>C c.8240G>C (p.Arg2747Thr) c.985G>C n.1125G>C c.8858G>C (p.Arg2953Thr) c.7034G>C (p.Arg2345Thr) c.7037G>C (p.Arg2346Thr) n.5300G>C c.8258G>C (p.Arg2753Thr) c.7637G>C (p.Arg2546Thr) c.8357G>C (p.Arg2786Thr) c.8855G>C (p.Arg2952Thr) c.6452G>C (p.Arg2151Thr)
2	g.237336242C>T	CA351191213	COL6A3	c.1503G>A c.8240G>A (p.Arg2747Lys) c.985G>A n.1125G>A c.8858G>A (p.Arg2953Lys) c.7034G>A (p.Arg2345Lys) c.7037G>A (p.Arg2346Lys) n.5300G>A c.8258G>A (p.Arg2753Lys) c.7637G>A (p.Arg2546Lys) c.8357G>A (p.Arg2786Lys) c.8855G>A (p.Arg2952Lys) c.6452G>A (p.Arg2151Lys)
2	g.237336243T>A	CA351191214	COL6A3	c.1502A>T c.8239A>T (p.Arg2747Ter) c.984A>T n.1124A>T c.8857A>T (p.Arg2953Ter) c.7033A>T (p.Arg2345Ter) c.7036A>T (p.Arg2346Ter) n.5299A>T c.8257A>T (p.Arg2753Ter) c.7636A>T (p.Arg2546Ter) c.8356A>T (p.Arg2786Ter) c.8854A>T (p.Arg2952Ter) c.6451A>T (p.Arg2151Ter)
2	g.237336243T>C	CA351191215	COL6A3	c.1502A>G c.8239A>G (p.Arg2747Gly) c.984A>G n.1124A>G c.8857A>G (p.Arg2953Gly) c.7033A>G (p.Arg2345Gly) c.7036A>G (p.Arg2346Gly) n.5299A>G c.8257A>G (p.Arg2753Gly) c.7636A>G (p.Arg2546Gly) c.8356A>G (p.Arg2786Gly) c.8854A>G (p.Arg2952Gly) c.6451A>G (p.Arg2151Gly)
2	g.237336243T>G	CA431701081	COL6A3	c.1502A>C c.8239A>C (p.Arg2747=) c.984A>C n.1124A>C c.8857A>C (p.Arg2953=) c.7033A>C (p.Arg2345=) c.7036A>C (p.Arg2346=) n.5299A>C c.8257A>C (p.Arg2753=) c.7636A>C (p.Arg2546=) c.8356A>C (p.Arg2786=) c.8854A>C (p.Arg2952=) c.6451A>C (p.Arg2151=)
2	g.237336244T>A	CA431701086	COL6A3	c.1501A>T c.8238A>T (p.Val2746=) c.983A>T n.1123A>T c.8856A>T (p.Val2952=) c.7032A>T (p.Val2344=) c.7035A>T (p.Val2345=) n.5298A>T c.8256A>T (p.Val2752=) c.7635A>T (p.Val2545=) c.8355A>T (p.Val2785=) c.8853A>T (p.Val2951=) c.6450A>T (p.Val2150=)
2	g.237336244T>C	CA431701092	COL6A3	c.1501A>G c.8238A>G (p.Val2746=) c.983A>G n.1123A>G c.8856A>G (p.Val2952=) c.7032A>G (p.Val2344=) c.7035A>G (p.Val2345=) n.5298A>G c.8256A>G (p.Val2752=) c.7635A>G (p.Val2545=) c.8355A>G (p.Val2785=) c.8853A>G (p.Val2951=) c.6450A>G (p.Val2150=)
2	g.237336244T>G	CA431701089	COL6A3	c.1501A>C c.8238A>C (p.Val2746=) c.983A>C n.1123A>C c.8856A>C (p.Val2952=) c.7032A>C (p.Val2344=) c.7035A>C (p.Val2345=) n.5298A>C c.8256A>C (p.Val2752=) c.7635A>C (p.Val2545=) c.8355A>C (p.Val2785=) c.8853A>C (p.Val2951=) c.6450A>C (p.Val2150=)
2	g.237336244T=	CA1337607099	COL6A3	c.1501A= c.8238A= (p.Val2746=) c.983A= n.1123A= c.8856A= (p.Val2952=) c.7032A= (p.Val2344=) c.7035A= (p.Val2345=) n.5298A= c.8256A= (p.Val2752=) c.7635A= (p.Val2545=) c.8355A= (p.Val2785=) c.8853A= (p.Val2951=) c.6450A= (p.Val2150=)
2	g.237336245A>C	CA351191216	COL6A3	c.1500T>G c.8237T>G (p.Val2746Gly) c.982T>G n.1122T>G c.8855T>G (p.Val2952Gly) c.7031T>G (p.Val2344Gly) c.7034T>G (p.Val2345Gly) n.5297T>G c.8255T>G (p.Val2752Gly) c.7634T>G (p.Val2545Gly) c.8354T>G (p.Val2785Gly) c.8852T>G (p.Val2951Gly) c.6449T>G (p.Val2150Gly)
2	g.237336245A>G	CA351191217	COL6A3	c.1500T>C c.8237T>C (p.Val2746Ala) c.982T>C n.1122T>C c.8855T>C (p.Val2952Ala) c.7031T>C (p.Val2344Ala) c.7034T>C (p.Val2345Ala) n.5297T>C c.8255T>C (p.Val2752Ala) c.7634T>C (p.Val2545Ala) c.8354T>C (p.Val2785Ala) c.8852T>C (p.Val2951Ala) c.6449T>C (p.Val2150Ala)
2	g.237336245A>T	CA351191218	COL6A3	c.1500T>A c.8237T>A (p.Val2746Glu) c.982T>A n.1122T>A c.8855T>A (p.Val2952Glu) c.7031T>A (p.Val2344Glu) c.7034T>A (p.Val2345Glu) n.5297T>A c.8255T>A (p.Val2752Glu) c.7634T>A (p.Val2545Glu) c.8354T>A (p.Val2785Glu) c.8852T>A (p.Val2951Glu) c.6449T>A (p.Val2150Glu)
2	g.237336245dup	CA1337607100	COL6A3	c.1500dup c.8237dup (p.Arg2747LysfsTer16) c.982dup n.1122dup c.8855dup (p.Arg2953LysfsTer16) c.7031dup (p.Arg2345LysfsTer16) c.7034dup (p.Arg2346LysfsTer16) n.5297dup c.8255dup (p.Arg2753LysfsTer16) c.7634dup (p.Arg2546LysfsTer16) c.8354dup (p.Arg2786LysfsTer16) c.8852dup (p.Arg2952LysfsTer16) c.6449dup (p.Arg2151LysfsTer16)	dbSNP
2	g.237336246C>A	CA351191219	COL6A3	c.1499G>T c.8236G>T (p.Val2746Leu) c.981G>T n.1121G>T c.8854G>T (p.Val2952Leu) c.7030G>T (p.Val2344Leu) c.7033G>T (p.Val2345Leu) n.5296G>T c.8254G>T (p.Val2752Leu) c.7633G>T (p.Val2545Leu) c.8353G>T (p.Val2785Leu) c.8851G>T (p.Val2951Leu) c.6448G>T (p.Val2150Leu)
2	g.237336246C=	CA1337607101	COL6A3	c.1499G= c.8236G= (p.Val2746=) c.981G= n.1121G= c.8854G= (p.Val2952=) c.7030G= (p.Val2344=) c.7033G= (p.Val2345=) n.5296G= c.8254G= (p.Val2752=) c.7633G= (p.Val2545=) c.8353G= (p.Val2785=) c.8851G= (p.Val2951=) c.6448G= (p.Val2150=)
2	g.237336246C>G	CA351191220	COL6A3	c.1499G>C c.8236G>C (p.Val2746Leu) c.981G>C n.1121G>C c.8854G>C (p.Val2952Leu) c.7030G>C (p.Val2344Leu) c.7033G>C (p.Val2345Leu) n.5296G>C c.8254G>C (p.Val2752Leu) c.7633G>C (p.Val2545Leu) c.8353G>C (p.Val2785Leu) c.8851G>C (p.Val2951Leu) c.6448G>C (p.Val2150Leu)
2	g.237336246C>T	CA2187430	COL6A3	c.1499G>A c.8236G>A (p.Val2746Ile) c.981G>A n.1121G>A c.8854G>A (p.Val2952Ile) c.7030G>A (p.Val2344Ile) c.7033G>A (p.Val2345Ile) n.5296G>A c.8254G>A (p.Val2752Ile) c.7633G>A (p.Val2545Ile) c.8353G>A (p.Val2785Ile) c.8851G>A (p.Val2951Ile) c.6448G>A (p.Val2150Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336247A>C	CA431701120	COL6A3	c.1498T>G c.8235T>G (p.Ala2745=) c.980T>G n.1120T>G c.8853T>G (p.Ala2951=) c.7029T>G (p.Ala2343=) c.7032T>G (p.Ala2344=) n.5295T>G c.8253T>G (p.Ala2751=) c.7632T>G (p.Ala2544=) c.8352T>G (p.Ala2784=) c.8850T>G (p.Ala2950=) c.6447T>G (p.Ala2149=)
2	g.237336247A>G	CA431701113	COL6A3	c.1498T>C c.8235T>C (p.Ala2745=) c.980T>C n.1120T>C c.8853T>C (p.Ala2951=) c.7029T>C (p.Ala2343=) c.7032T>C (p.Ala2344=) n.5295T>C c.8253T>C (p.Ala2751=) c.7632T>C (p.Ala2544=) c.8352T>C (p.Ala2784=) c.8850T>C (p.Ala2950=) c.6447T>C (p.Ala2149=)
2	g.237336247A>T	CA431701116	COL6A3	c.1498T>A c.8235T>A (p.Ala2745=) c.980T>A n.1120T>A c.8853T>A (p.Ala2951=) c.7029T>A (p.Ala2343=) c.7032T>A (p.Ala2344=) n.5295T>A c.8253T>A (p.Ala2751=) c.7632T>A (p.Ala2544=) c.8352T>A (p.Ala2784=) c.8850T>A (p.Ala2950=) c.6447T>A (p.Ala2149=)
2	g.237336248G>A	CA351191225	COL6A3	c.1497C>T c.8234C>T (p.Ala2745Val) c.979C>T n.1119C>T c.8852C>T (p.Ala2951Val) c.7028C>T (p.Ala2343Val) c.7031C>T (p.Ala2344Val) n.5294C>T c.8252C>T (p.Ala2751Val) c.7631C>T (p.Ala2544Val) c.8351C>T (p.Ala2784Val) c.8849C>T (p.Ala2950Val) c.6446C>T (p.Ala2149Val)	gnomAD v4
2	g.237336248G>C	CA351191223	COL6A3	c.1497C>G c.8234C>G (p.Ala2745Gly) c.979C>G n.1119C>G c.8852C>G (p.Ala2951Gly) c.7028C>G (p.Ala2343Gly) c.7031C>G (p.Ala2344Gly) n.5294C>G c.8252C>G (p.Ala2751Gly) c.7631C>G (p.Ala2544Gly) c.8351C>G (p.Ala2784Gly) c.8849C>G (p.Ala2950Gly) c.6446C>G (p.Ala2149Gly)
2	g.237336248G>T	CA351191221	COL6A3	c.1497C>A c.8234C>A (p.Ala2745Asp) c.979C>A n.1119C>A c.8852C>A (p.Ala2951Asp) c.7028C>A (p.Ala2343Asp) c.7031C>A (p.Ala2344Asp) n.5294C>A c.8252C>A (p.Ala2751Asp) c.7631C>A (p.Ala2544Asp) c.8351C>A (p.Ala2784Asp) c.8849C>A (p.Ala2950Asp) c.6446C>A (p.Ala2149Asp)
2	g.237336249C>A	CA351191228	COL6A3	c.1496G>T c.8233G>T (p.Ala2745Ser) c.978G>T n.1118G>T c.8851G>T (p.Ala2951Ser) c.7027G>T (p.Ala2343Ser) c.7030G>T (p.Ala2344Ser) n.5293G>T c.8251G>T (p.Ala2751Ser) c.7630G>T (p.Ala2544Ser) c.8350G>T (p.Ala2784Ser) c.8848G>T (p.Ala2950Ser) c.6445G>T (p.Ala2149Ser)	gnomAD v4
2	g.237336249C=	CA1337607102	COL6A3	c.1496G= c.8233G= (p.Ala2745=) c.978G= n.1118G= c.8851G= (p.Ala2951=) c.7027G= (p.Ala2343=) c.7030G= (p.Ala2344=) n.5293G= c.8251G= (p.Ala2751=) c.7630G= (p.Ala2544=) c.8350G= (p.Ala2784=) c.8848G= (p.Ala2950=) c.6445G= (p.Ala2149=)
2	g.237336249C>G	CA2187431	COL6A3	c.1496G>C c.8233G>C (p.Ala2745Pro) c.978G>C n.1118G>C c.8851G>C (p.Ala2951Pro) c.7027G>C (p.Ala2343Pro) c.7030G>C (p.Ala2344Pro) n.5293G>C c.8251G>C (p.Ala2751Pro) c.7630G>C (p.Ala2544Pro) c.8350G>C (p.Ala2784Pro) c.8848G>C (p.Ala2950Pro) c.6445G>C (p.Ala2149Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336249C>T	CA351191231	COL6A3	c.1496G>A c.8233G>A (p.Ala2745Thr) c.978G>A n.1118G>A c.8851G>A (p.Ala2951Thr) c.7027G>A (p.Ala2343Thr) c.7030G>A (p.Ala2344Thr) n.5293G>A c.8251G>A (p.Ala2751Thr) c.7630G>A (p.Ala2544Thr) c.8350G>A (p.Ala2784Thr) c.8848G>A (p.Ala2950Thr) c.6445G>A (p.Ala2149Thr)	gnomAD v4
2	g.237336250T>A	CA431701151	COL6A3	c.1495A>T c.8232A>T (p.Ala2744=) c.977A>T n.1117A>T c.8850A>T (p.Ala2950=) c.7026A>T (p.Ala2342=) c.7029A>T (p.Ala2343=) n.5292A>T c.8250A>T (p.Ala2750=) c.7629A>T (p.Ala2543=) c.8349A>T (p.Ala2783=) c.8847A>T (p.Ala2949=) c.6444A>T (p.Ala2148=)
2	g.237336250T>C	CA431701153	COL6A3	c.1495A>G c.8232A>G (p.Ala2744=) c.977A>G n.1117A>G c.8850A>G (p.Ala2950=) c.7026A>G (p.Ala2342=) c.7029A>G (p.Ala2343=) n.5292A>G c.8250A>G (p.Ala2750=) c.7629A>G (p.Ala2543=) c.8349A>G (p.Ala2783=) c.8847A>G (p.Ala2949=) c.6444A>G (p.Ala2148=)
2	g.237336250T>G	CA431701163	COL6A3	c.1495A>C c.8232A>C (p.Ala2744=) c.977A>C n.1117A>C c.8850A>C (p.Ala2950=) c.7026A>C (p.Ala2342=) c.7029A>C (p.Ala2343=) n.5292A>C c.8250A>C (p.Ala2750=) c.7629A>C (p.Ala2543=) c.8349A>C (p.Ala2783=) c.8847A>C (p.Ala2949=) c.6444A>C (p.Ala2148=)
2	g.237336251G>A	CA351191235	COL6A3	c.1494C>T c.8231C>T (p.Ala2744Val) c.976C>T n.1116C>T c.8849C>T (p.Ala2950Val) c.7025C>T (p.Ala2342Val) c.7028C>T (p.Ala2343Val) n.5291C>T c.8249C>T (p.Ala2750Val) c.7628C>T (p.Ala2543Val) c.8348C>T (p.Ala2783Val) c.8846C>T (p.Ala2949Val) c.6443C>T (p.Ala2148Val)
2	g.237336251G>C	CA351191237	COL6A3	c.1494C>G c.8231C>G (p.Ala2744Gly) c.976C>G n.1116C>G c.8849C>G (p.Ala2950Gly) c.7025C>G (p.Ala2342Gly) c.7028C>G (p.Ala2343Gly) n.5291C>G c.8249C>G (p.Ala2750Gly) c.7628C>G (p.Ala2543Gly) c.8348C>G (p.Ala2783Gly) c.8846C>G (p.Ala2949Gly) c.6443C>G (p.Ala2148Gly)
2	g.237336251G>T	CA351191239	COL6A3	c.1494C>A c.8231C>A (p.Ala2744Glu) c.976C>A n.1116C>A c.8849C>A (p.Ala2950Glu) c.7025C>A (p.Ala2342Glu) c.7028C>A (p.Ala2343Glu) n.5291C>A c.8249C>A (p.Ala2750Glu) c.7628C>A (p.Ala2543Glu) c.8348C>A (p.Ala2783Glu) c.8846C>A (p.Ala2949Glu) c.6443C>A (p.Ala2148Glu)
2	g.237336252C>A	CA351191242	COL6A3	c.1493G>T c.8230G>T (p.Ala2744Ser) c.975G>T n.1115G>T c.8848G>T (p.Ala2950Ser) c.7024G>T (p.Ala2342Ser) c.7027G>T (p.Ala2343Ser) n.5290G>T c.8248G>T (p.Ala2750Ser) c.7627G>T (p.Ala2543Ser) c.8347G>T (p.Ala2783Ser) c.8845G>T (p.Ala2949Ser) c.6442G>T (p.Ala2148Ser)
2	g.237336252C>G	CA351191244	COL6A3	c.1493G>C c.8230G>C (p.Ala2744Pro) c.975G>C n.1115G>C c.8848G>C (p.Ala2950Pro) c.7024G>C (p.Ala2342Pro) c.7027G>C (p.Ala2343Pro) n.5290G>C c.8248G>C (p.Ala2750Pro) c.7627G>C (p.Ala2543Pro) c.8347G>C (p.Ala2783Pro) c.8845G>C (p.Ala2949Pro) c.6442G>C (p.Ala2148Pro)
2	g.237336252C>T	CA351191246	COL6A3	c.1493G>A c.8230G>A (p.Ala2744Thr) c.975G>A n.1115G>A c.8848G>A (p.Ala2950Thr) c.7024G>A (p.Ala2342Thr) c.7027G>A (p.Ala2343Thr) n.5290G>A c.8248G>A (p.Ala2750Thr) c.7627G>A (p.Ala2543Thr) c.8347G>A (p.Ala2783Thr) c.8845G>A (p.Ala2949Thr) c.6442G>A (p.Ala2148Thr)	gnomAD v4
2	g.237336253T>A	CA431701183	COL6A3	c.1492A>T c.8229A>T (p.Pro2743=) c.974A>T n.1114A>T c.8847A>T (p.Pro2949=) c.7023A>T (p.Pro2341=) c.7026A>T (p.Pro2342=) n.5289A>T c.8247A>T (p.Pro2749=) c.7626A>T (p.Pro2542=) c.8346A>T (p.Pro2782=) c.8844A>T (p.Pro2948=) c.6441A>T (p.Pro2147=)
2	g.237336253T>C	CA2187432	COL6A3	c.1492A>G c.8229A>G (p.Pro2743=) c.974A>G n.1114A>G c.8847A>G (p.Pro2949=) c.7023A>G (p.Pro2341=) c.7026A>G (p.Pro2342=) n.5289A>G c.8247A>G (p.Pro2749=) c.7626A>G (p.Pro2542=) c.8346A>G (p.Pro2782=) c.8844A>G (p.Pro2948=) c.6441A>G (p.Pro2147=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336253T>G	CA431701190	COL6A3	c.1492A>C c.8229A>C (p.Pro2743=) c.974A>C n.1114A>C c.8847A>C (p.Pro2949=) c.7023A>C (p.Pro2341=) c.7026A>C (p.Pro2342=) n.5289A>C c.8247A>C (p.Pro2749=) c.7626A>C (p.Pro2542=) c.8346A>C (p.Pro2782=) c.8844A>C (p.Pro2948=) c.6441A>C (p.Pro2147=)
2	g.237336253T=	CA1337607103	COL6A3	c.1492A= c.8229A= (p.Pro2743=) c.974A= n.1114A= c.8847A= (p.Pro2949=) c.7023A= (p.Pro2341=) c.7026A= (p.Pro2342=) n.5289A= c.8247A= (p.Pro2749=) c.7626A= (p.Pro2542=) c.8346A= (p.Pro2782=) c.8844A= (p.Pro2948=) c.6441A= (p.Pro2147=)
2	g.237336254G>A	CA2187433	COL6A3	c.1491C>T c.8228C>T (p.Pro2743Leu) c.973C>T n.1113C>T c.8846C>T (p.Pro2949Leu) c.7022C>T (p.Pro2341Leu) c.7025C>T (p.Pro2342Leu) n.5288C>T c.8246C>T (p.Pro2749Leu) c.7625C>T (p.Pro2542Leu) c.8345C>T (p.Pro2782Leu) c.8843C>T (p.Pro2948Leu) c.6440C>T (p.Pro2147Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336254G>C	CA351191252	COL6A3	c.1491C>G c.8228C>G (p.Pro2743Arg) c.973C>G n.1113C>G c.8846C>G (p.Pro2949Arg) c.7022C>G (p.Pro2341Arg) c.7025C>G (p.Pro2342Arg) n.5288C>G c.8246C>G (p.Pro2749Arg) c.7625C>G (p.Pro2542Arg) c.8345C>G (p.Pro2782Arg) c.8843C>G (p.Pro2948Arg) c.6440C>G (p.Pro2147Arg)	gnomAD v4
2	g.237336254G=	CA1337607104	COL6A3	c.1491C= c.8228C= (p.Pro2743=) c.973C= n.1113C= c.8846C= (p.Pro2949=) c.7022C= (p.Pro2341=) c.7025C= (p.Pro2342=) n.5288C= c.8246C= (p.Pro2749=) c.7625C= (p.Pro2542=) c.8345C= (p.Pro2782=) c.8843C= (p.Pro2948=) c.6440C= (p.Pro2147=)
2	g.237336254G>T	CA351191254	COL6A3	c.1491C>A c.8228C>A (p.Pro2743Gln) c.973C>A n.1113C>A c.8846C>A (p.Pro2949Gln) c.7022C>A (p.Pro2341Gln) c.7025C>A (p.Pro2342Gln) n.5288C>A c.8246C>A (p.Pro2749Gln) c.7625C>A (p.Pro2542Gln) c.8345C>A (p.Pro2782Gln) c.8843C>A (p.Pro2948Gln) c.6440C>A (p.Pro2147Gln)
2	g.237336255G>A	CA351191261	COL6A3	c.1490C>T c.8227C>T (p.Pro2743Ser) c.972C>T n.1112C>T c.8845C>T (p.Pro2949Ser) c.7021C>T (p.Pro2341Ser) c.7024C>T (p.Pro2342Ser) n.5287C>T c.8245C>T (p.Pro2749Ser) c.7624C>T (p.Pro2542Ser) c.8344C>T (p.Pro2782Ser) c.8842C>T (p.Pro2948Ser) c.6439C>T (p.Pro2147Ser)
2	g.237336255G>C	CA351191259	COL6A3	c.1490C>G c.8227C>G (p.Pro2743Ala) c.972C>G n.1112C>G c.8845C>G (p.Pro2949Ala) c.7021C>G (p.Pro2341Ala) c.7024C>G (p.Pro2342Ala) n.5287C>G c.8245C>G (p.Pro2749Ala) c.7624C>G (p.Pro2542Ala) c.8344C>G (p.Pro2782Ala) c.8842C>G (p.Pro2948Ala) c.6439C>G (p.Pro2147Ala)
2	g.237336255G>T	CA351191257	COL6A3	c.1490C>A c.8227C>A (p.Pro2743Thr) c.972C>A n.1112C>A c.8845C>A (p.Pro2949Thr) c.7021C>A (p.Pro2341Thr) c.7024C>A (p.Pro2342Thr) n.5287C>A c.8245C>A (p.Pro2749Thr) c.7624C>A (p.Pro2542Thr) c.8344C>A (p.Pro2782Thr) c.8842C>A (p.Pro2948Thr) c.6439C>A (p.Pro2147Thr)
2	g.237336256C>A	CA351191264	COL6A3	c.1489G>T c.8226G>T (p.Lys2742Asn) c.971G>T n.1111G>T c.8844G>T (p.Lys2948Asn) c.7020G>T (p.Lys2340Asn) c.7023G>T (p.Lys2341Asn) n.5286G>T c.8244G>T (p.Lys2748Asn) c.7623G>T (p.Lys2541Asn) c.8343G>T (p.Lys2781Asn) c.8841G>T (p.Lys2947Asn) c.6438G>T (p.Lys2146Asn)
2	g.237336256C>G	CA351191266	COL6A3	c.1489G>C c.8226G>C (p.Lys2742Asn) c.971G>C n.1111G>C c.8844G>C (p.Lys2948Asn) c.7020G>C (p.Lys2340Asn) c.7023G>C (p.Lys2341Asn) n.5286G>C c.8244G>C (p.Lys2748Asn) c.7623G>C (p.Lys2541Asn) c.8343G>C (p.Lys2781Asn) c.8841G>C (p.Lys2947Asn) c.6438G>C (p.Lys2146Asn)
2	g.237336256C>T	CA431701214	COL6A3	c.1489G>A c.8226G>A (p.Lys2742=) c.971G>A n.1111G>A c.8844G>A (p.Lys2948=) c.7020G>A (p.Lys2340=) c.7023G>A (p.Lys2341=) n.5286G>A c.8244G>A (p.Lys2748=) c.7623G>A (p.Lys2541=) c.8343G>A (p.Lys2781=) c.8841G>A (p.Lys2947=) c.6438G>A (p.Lys2146=)
2	g.237336257T>A	CA351191269	COL6A3	c.1488A>T c.8225A>T (p.Lys2742Met) c.970A>T n.1110A>T c.8843A>T (p.Lys2948Met) c.7019A>T (p.Lys2340Met) c.7022A>T (p.Lys2341Met) n.5285A>T c.8243A>T (p.Lys2748Met) c.7622A>T (p.Lys2541Met) c.8342A>T (p.Lys2781Met) c.8840A>T (p.Lys2947Met) c.6437A>T (p.Lys2146Met)
2	g.237336257T>C	CA351191271	COL6A3	c.1488A>G c.8225A>G (p.Lys2742Arg) c.970A>G n.1110A>G c.8843A>G (p.Lys2948Arg) c.7019A>G (p.Lys2340Arg) c.7022A>G (p.Lys2341Arg) n.5285A>G c.8243A>G (p.Lys2748Arg) c.7622A>G (p.Lys2541Arg) c.8342A>G (p.Lys2781Arg) c.8840A>G (p.Lys2947Arg) c.6437A>G (p.Lys2146Arg)
2	g.237336257T>G	CA351191273	COL6A3	c.1488A>C c.8225A>C (p.Lys2742Thr) c.970A>C n.1110A>C c.8843A>C (p.Lys2948Thr) c.7019A>C (p.Lys2340Thr) c.7022A>C (p.Lys2341Thr) n.5285A>C c.8243A>C (p.Lys2748Thr) c.7622A>C (p.Lys2541Thr) c.8342A>C (p.Lys2781Thr) c.8840A>C (p.Lys2947Thr) c.6437A>C (p.Lys2146Thr)
2	g.237336258T>A	CA351191276	COL6A3	c.1487A>T c.8224A>T (p.Lys2742Ter) c.969A>T n.1109A>T c.8842A>T (p.Lys2948Ter) c.7018A>T (p.Lys2340Ter) c.7021A>T (p.Lys2341Ter) n.5284A>T c.8242A>T (p.Lys2748Ter) c.7621A>T (p.Lys2541Ter) c.8341A>T (p.Lys2781Ter) c.8839A>T (p.Lys2947Ter) c.6436A>T (p.Lys2146Ter)
2	g.237336258T>C	CA351191278	COL6A3	c.1487A>G c.8224A>G (p.Lys2742Glu) c.969A>G n.1109A>G c.8842A>G (p.Lys2948Glu) c.7018A>G (p.Lys2340Glu) c.7021A>G (p.Lys2341Glu) n.5284A>G c.8242A>G (p.Lys2748Glu) c.7621A>G (p.Lys2541Glu) c.8341A>G (p.Lys2781Glu) c.8839A>G (p.Lys2947Glu) c.6436A>G (p.Lys2146Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336258T>G	CA351191280	COL6A3	c.1487A>C c.8224A>C (p.Lys2742Gln) c.969A>C n.1109A>C c.8842A>C (p.Lys2948Gln) c.7018A>C (p.Lys2340Gln) c.7021A>C (p.Lys2341Gln) n.5284A>C c.8242A>C (p.Lys2748Gln) c.7621A>C (p.Lys2541Gln) c.8341A>C (p.Lys2781Gln) c.8839A>C (p.Lys2947Gln) c.6436A>C (p.Lys2146Gln)
2	g.237336258T=	CA1337607105	COL6A3	c.1487A= c.8224A= (p.Lys2742=) c.969A= n.1109A= c.8842A= (p.Lys2948=) c.7018A= (p.Lys2340=) c.7021A= (p.Lys2341=) n.5284A= c.8242A= (p.Lys2748=) c.7621A= (p.Lys2541=) c.8341A= (p.Lys2781=) c.8839A= (p.Lys2947=) c.6436A= (p.Lys2146=)
2	g.237336259T>A	CA431701229	COL6A3	c.1486A>T c.8223A>T (p.Ala2741=) c.968A>T n.1108A>T c.8841A>T (p.Ala2947=) c.7017A>T (p.Ala2339=) c.7020A>T (p.Ala2340=) n.5283A>T c.8241A>T (p.Ala2747=) c.7620A>T (p.Ala2540=) c.8340A>T (p.Ala2780=) c.8838A>T (p.Ala2946=) c.6435A>T (p.Ala2145=)
2	g.237336259T>C	CA431701231	COL6A3	c.1486A>G c.8223A>G (p.Ala2741=) c.968A>G n.1108A>G c.8841A>G (p.Ala2947=) c.7017A>G (p.Ala2339=) c.7020A>G (p.Ala2340=) n.5283A>G c.8241A>G (p.Ala2747=) c.7620A>G (p.Ala2540=) c.8340A>G (p.Ala2780=) c.8838A>G (p.Ala2946=) c.6435A>G (p.Ala2145=)
2	g.237336259T>G	CA431701233	COL6A3	c.1486A>C c.8223A>C (p.Ala2741=) c.968A>C n.1108A>C c.8841A>C (p.Ala2947=) c.7017A>C (p.Ala2339=) c.7020A>C (p.Ala2340=) n.5283A>C c.8241A>C (p.Ala2747=) c.7620A>C (p.Ala2540=) c.8340A>C (p.Ala2780=) c.8838A>C (p.Ala2946=) c.6435A>C (p.Ala2145=)
2	g.237336260G>A	CA351191284	COL6A3	c.1485C>T c.8222C>T (p.Ala2741Val) c.967C>T n.1107C>T c.8840C>T (p.Ala2947Val) c.7016C>T (p.Ala2339Val) c.7019C>T (p.Ala2340Val) n.5282C>T c.8240C>T (p.Ala2747Val) c.7619C>T (p.Ala2540Val) c.8339C>T (p.Ala2780Val) c.8837C>T (p.Ala2946Val) c.6434C>T (p.Ala2145Val)
2	g.237336260G>C	CA351191286	COL6A3	c.1485C>G c.8222C>G (p.Ala2741Gly) c.967C>G n.1107C>G c.8840C>G (p.Ala2947Gly) c.7016C>G (p.Ala2339Gly) c.7019C>G (p.Ala2340Gly) n.5282C>G c.8240C>G (p.Ala2747Gly) c.7619C>G (p.Ala2540Gly) c.8339C>G (p.Ala2780Gly) c.8837C>G (p.Ala2946Gly) c.6434C>G (p.Ala2145Gly)
2	g.237336260G>T	CA351191288	COL6A3	c.1485C>A c.8222C>A (p.Ala2741Glu) c.967C>A n.1107C>A c.8840C>A (p.Ala2947Glu) c.7016C>A (p.Ala2339Glu) c.7019C>A (p.Ala2340Glu) n.5282C>A c.8240C>A (p.Ala2747Glu) c.7619C>A (p.Ala2540Glu) c.8339C>A (p.Ala2780Glu) c.8837C>A (p.Ala2946Glu) c.6434C>A (p.Ala2145Glu)
2	g.237336261C>A	CA351191291	COL6A3	c.1484G>T c.8221G>T (p.Ala2741Ser) c.966G>T n.1106G>T c.8839G>T (p.Ala2947Ser) c.7015G>T (p.Ala2339Ser) c.7018G>T (p.Ala2340Ser) n.5281G>T c.8239G>T (p.Ala2747Ser) c.7618G>T (p.Ala2540Ser) c.8338G>T (p.Ala2780Ser) c.8836G>T (p.Ala2946Ser) c.6433G>T (p.Ala2145Ser)
2	g.237336261C=	CA1337607106	COL6A3	c.1484G= c.8221G= (p.Ala2741=) c.966G= n.1106G= c.8839G= (p.Ala2947=) c.7015G= (p.Ala2339=) c.7018G= (p.Ala2340=) n.5281G= c.8239G= (p.Ala2747=) c.7618G= (p.Ala2540=) c.8338G= (p.Ala2780=) c.8836G= (p.Ala2946=) c.6433G= (p.Ala2145=)
2	g.237336261C>G	CA351191293	COL6A3	c.1484G>C c.8221G>C (p.Ala2741Pro) c.966G>C n.1106G>C c.8839G>C (p.Ala2947Pro) c.7015G>C (p.Ala2339Pro) c.7018G>C (p.Ala2340Pro) n.5281G>C c.8239G>C (p.Ala2747Pro) c.7618G>C (p.Ala2540Pro) c.8338G>C (p.Ala2780Pro) c.8836G>C (p.Ala2946Pro) c.6433G>C (p.Ala2145Pro)
2	g.237336261C>T	CA2187434	COL6A3	c.1484G>A c.8221G>A (p.Ala2741Thr) c.966G>A n.1106G>A c.8839G>A (p.Ala2947Thr) c.7015G>A (p.Ala2339Thr) c.7018G>A (p.Ala2340Thr) n.5281G>A c.8239G>A (p.Ala2747Thr) c.7618G>A (p.Ala2540Thr) c.8338G>A (p.Ala2780Thr) c.8836G>A (p.Ala2946Thr) c.6433G>A (p.Ala2145Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336262T>A	CA431701249	COL6A3	c.1483A>T c.8220A>T (p.Ala2740=) c.965A>T n.1105A>T c.8838A>T (p.Ala2946=) c.7014A>T (p.Ala2338=) c.7017A>T (p.Ala2339=) n.5280A>T c.8238A>T (p.Ala2746=) c.7617A>T (p.Ala2539=) c.8337A>T (p.Ala2779=) c.8835A>T (p.Ala2945=) c.6432A>T (p.Ala2144=)
2	g.237336262T>C	CA431701251	COL6A3	c.1483A>G c.8220A>G (p.Ala2740=) c.965A>G n.1105A>G c.8838A>G (p.Ala2946=) c.7014A>G (p.Ala2338=) c.7017A>G (p.Ala2339=) n.5280A>G c.8238A>G (p.Ala2746=) c.7617A>G (p.Ala2539=) c.8337A>G (p.Ala2779=) c.8835A>G (p.Ala2945=) c.6432A>G (p.Ala2144=)	dbSNP gnomAD v3 gnomAD v4
2	g.237336262T>G	CA431701255	COL6A3	c.1483A>C c.8220A>C (p.Ala2740=) c.965A>C n.1105A>C c.8838A>C (p.Ala2946=) c.7014A>C (p.Ala2338=) c.7017A>C (p.Ala2339=) n.5280A>C c.8238A>C (p.Ala2746=) c.7617A>C (p.Ala2539=) c.8337A>C (p.Ala2779=) c.8835A>C (p.Ala2945=) c.6432A>C (p.Ala2144=)
2	g.237336262T=	CA1337607107	COL6A3	c.1483A= c.8220A= (p.Ala2740=) c.965A= n.1105A= c.8838A= (p.Ala2946=) c.7014A= (p.Ala2338=) c.7017A= (p.Ala2339=) n.5280A= c.8238A= (p.Ala2746=) c.7617A= (p.Ala2539=) c.8337A= (p.Ala2779=) c.8835A= (p.Ala2945=) c.6432A= (p.Ala2144=)
2	g.237336263G>A	CA351191297	COL6A3	c.1482C>T c.8219C>T (p.Ala2740Val) c.964C>T n.1104C>T c.8837C>T (p.Ala2946Val) c.7013C>T (p.Ala2338Val) c.7016C>T (p.Ala2339Val) n.5279C>T c.8237C>T (p.Ala2746Val) c.7616C>T (p.Ala2539Val) c.8336C>T (p.Ala2779Val) c.8834C>T (p.Ala2945Val) c.6431C>T (p.Ala2144Val)
2	g.237336263G>C	CA351191299	COL6A3	c.1482C>G c.8219C>G (p.Ala2740Gly) c.964C>G n.1104C>G c.8837C>G (p.Ala2946Gly) c.7013C>G (p.Ala2338Gly) c.7016C>G (p.Ala2339Gly) n.5279C>G c.8237C>G (p.Ala2746Gly) c.7616C>G (p.Ala2539Gly) c.8336C>G (p.Ala2779Gly) c.8834C>G (p.Ala2945Gly) c.6431C>G (p.Ala2144Gly)
2	g.237336263G>T	CA351191295	COL6A3	c.1482C>A c.8219C>A (p.Ala2740Glu) c.964C>A n.1104C>A c.8837C>A (p.Ala2946Glu) c.7013C>A (p.Ala2338Glu) c.7016C>A (p.Ala2339Glu) n.5279C>A c.8237C>A (p.Ala2746Glu) c.7616C>A (p.Ala2539Glu) c.8336C>A (p.Ala2779Glu) c.8834C>A (p.Ala2945Glu) c.6431C>A (p.Ala2144Glu)
2	g.237336264C>A	CA351191303	COL6A3	c.1481G>T c.8218G>T (p.Ala2740Ser) c.963G>T n.1103G>T c.8836G>T (p.Ala2946Ser) c.7012G>T (p.Ala2338Ser) c.7015G>T (p.Ala2339Ser) n.5278G>T c.8236G>T (p.Ala2746Ser) c.7615G>T (p.Ala2539Ser) c.8335G>T (p.Ala2779Ser) c.8833G>T (p.Ala2945Ser) c.6430G>T (p.Ala2144Ser)	COSMIC
2	g.237336264C=	CA1337607108	COL6A3	c.1481G= c.8218G= (p.Ala2740=) c.963G= n.1103G= c.8836G= (p.Ala2946=) c.7012G= (p.Ala2338=) c.7015G= (p.Ala2339=) n.5278G= c.8236G= (p.Ala2746=) c.7615G= (p.Ala2539=) c.8335G= (p.Ala2779=) c.8833G= (p.Ala2945=) c.6430G= (p.Ala2144=)
2	g.237336264C>G	CA351191304	COL6A3	c.1481G>C c.8218G>C (p.Ala2740Pro) c.963G>C n.1103G>C c.8836G>C (p.Ala2946Pro) c.7012G>C (p.Ala2338Pro) c.7015G>C (p.Ala2339Pro) n.5278G>C c.8236G>C (p.Ala2746Pro) c.7615G>C (p.Ala2539Pro) c.8335G>C (p.Ala2779Pro) c.8833G>C (p.Ala2945Pro) c.6430G>C (p.Ala2144Pro)
2	g.237336264C>T	CA2187435	COL6A3	c.1481G>A c.8218G>A (p.Ala2740Thr) c.963G>A n.1103G>A c.8836G>A (p.Ala2946Thr) c.7012G>A (p.Ala2338Thr) c.7015G>A (p.Ala2339Thr) n.5278G>A c.8236G>A (p.Ala2746Thr) c.7615G>A (p.Ala2539Thr) c.8335G>A (p.Ala2779Thr) c.8833G>A (p.Ala2945Thr) c.6430G>A (p.Ala2144Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336265T>A	CA431701277	COL6A3	c.1480A>T c.8217A>T (p.Val2739=) c.962A>T n.1102A>T c.8835A>T (p.Val2945=) c.7011A>T (p.Val2337=) c.7014A>T (p.Val2338=) n.5277A>T c.8235A>T (p.Val2745=) c.7614A>T (p.Val2538=) c.8334A>T (p.Val2778=) c.8832A>T (p.Val2944=) c.6429A>T (p.Val2143=)
2	g.237336265T>C	CA431701281	COL6A3	c.1480A>G c.8217A>G (p.Val2739=) c.962A>G n.1102A>G c.8835A>G (p.Val2945=) c.7011A>G (p.Val2337=) c.7014A>G (p.Val2338=) n.5277A>G c.8235A>G (p.Val2745=) c.7614A>G (p.Val2538=) c.8334A>G (p.Val2778=) c.8832A>G (p.Val2944=) c.6429A>G (p.Val2143=)
2	g.237336265T>G	CA431701285	COL6A3	c.1480A>C c.8217A>C (p.Val2739=) c.962A>C n.1102A>C c.8835A>C (p.Val2945=) c.7011A>C (p.Val2337=) c.7014A>C (p.Val2338=) n.5277A>C c.8235A>C (p.Val2745=) c.7614A>C (p.Val2538=) c.8334A>C (p.Val2778=) c.8832A>C (p.Val2944=) c.6429A>C (p.Val2143=)
2	g.237336266A>C	CA351191309	COL6A3	c.1479T>G c.8216T>G (p.Val2739Gly) c.961T>G n.1101T>G c.8834T>G (p.Val2945Gly) c.7010T>G (p.Val2337Gly) c.7013T>G (p.Val2338Gly) n.5276T>G c.8234T>G (p.Val2745Gly) c.7613T>G (p.Val2538Gly) c.8333T>G (p.Val2778Gly) c.8831T>G (p.Val2944Gly) c.6428T>G (p.Val2143Gly)
2	g.237336266A>G	CA351191311	COL6A3	c.1479T>C c.8216T>C (p.Val2739Ala) c.961T>C n.1101T>C c.8834T>C (p.Val2945Ala) c.7010T>C (p.Val2337Ala) c.7013T>C (p.Val2338Ala) n.5276T>C c.8234T>C (p.Val2745Ala) c.7613T>C (p.Val2538Ala) c.8333T>C (p.Val2778Ala) c.8831T>C (p.Val2944Ala) c.6428T>C (p.Val2143Ala)
2	g.237336266A>T	CA351191313	COL6A3	c.1479T>A c.8216T>A (p.Val2739Glu) c.961T>A n.1101T>A c.8834T>A (p.Val2945Glu) c.7010T>A (p.Val2337Glu) c.7013T>A (p.Val2338Glu) n.5276T>A c.8234T>A (p.Val2745Glu) c.7613T>A (p.Val2538Glu) c.8333T>A (p.Val2778Glu) c.8831T>A (p.Val2944Glu) c.6428T>A (p.Val2143Glu)	ClinVar dbSNP gnomAD v4
2	g.237336267C>A	CA351191316	COL6A3	c.1478G>T c.8215G>T (p.Val2739Leu) c.960G>T n.1100G>T c.8833G>T (p.Val2945Leu) c.7009G>T (p.Val2337Leu) c.7012G>T (p.Val2338Leu) n.5275G>T c.8233G>T (p.Val2745Leu) c.7612G>T (p.Val2538Leu) c.8332G>T (p.Val2778Leu) c.8830G>T (p.Val2944Leu) c.6427G>T (p.Val2143Leu)
2	g.237336267C>G	CA351191318	COL6A3	c.1478G>C c.8215G>C (p.Val2739Leu) c.960G>C n.1100G>C c.8833G>C (p.Val2945Leu) c.7009G>C (p.Val2337Leu) c.7012G>C (p.Val2338Leu) n.5275G>C c.8233G>C (p.Val2745Leu) c.7612G>C (p.Val2538Leu) c.8332G>C (p.Val2778Leu) c.8830G>C (p.Val2944Leu) c.6427G>C (p.Val2143Leu)
2	g.237336267C>T	CA351191321	COL6A3	c.1478G>A c.8215G>A (p.Val2739Ile) c.960G>A n.1100G>A c.8833G>A (p.Val2945Ile) c.7009G>A (p.Val2337Ile) c.7012G>A (p.Val2338Ile) n.5275G>A c.8233G>A (p.Val2745Ile) c.7612G>A (p.Val2538Ile) c.8332G>A (p.Val2778Ile) c.8830G>A (p.Val2944Ile) c.6427G>A (p.Val2143Ile)	ClinVar
2	g.237336268A>C	CA431701305	COL6A3	c.1477T>G c.8214T>G (p.Pro2738=) c.959T>G n.1099T>G c.8832T>G (p.Pro2944=) c.7008T>G (p.Pro2336=) c.7011T>G (p.Pro2337=) n.5274T>G c.8232T>G (p.Pro2744=) c.7611T>G (p.Pro2537=) c.8331T>G (p.Pro2777=) c.8829T>G (p.Pro2943=) c.6426T>G (p.Pro2142=)
2	g.237336268A>G	CA431701311	COL6A3	c.1477T>C c.8214T>C (p.Pro2738=) c.959T>C n.1099T>C c.8832T>C (p.Pro2944=) c.7008T>C (p.Pro2336=) c.7011T>C (p.Pro2337=) n.5274T>C c.8232T>C (p.Pro2744=) c.7611T>C (p.Pro2537=) c.8331T>C (p.Pro2777=) c.8829T>C (p.Pro2943=) c.6426T>C (p.Pro2142=)
2	g.237336268A>T	CA431701307	COL6A3	c.1477T>A c.8214T>A (p.Pro2738=) c.959T>A n.1099T>A c.8832T>A (p.Pro2944=) c.7008T>A (p.Pro2336=) c.7011T>A (p.Pro2337=) n.5274T>A c.8232T>A (p.Pro2744=) c.7611T>A (p.Pro2537=) c.8331T>A (p.Pro2777=) c.8829T>A (p.Pro2943=) c.6426T>A (p.Pro2142=)
2	g.237336269G>A	CA351191324	COL6A3	c.1476C>T c.8213C>T (p.Pro2738Leu) c.958C>T n.1098C>T c.8831C>T (p.Pro2944Leu) c.7007C>T (p.Pro2336Leu) c.7010C>T (p.Pro2337Leu) n.5273C>T c.8231C>T (p.Pro2744Leu) c.7610C>T (p.Pro2537Leu) c.8330C>T (p.Pro2777Leu) c.8828C>T (p.Pro2943Leu) c.6425C>T (p.Pro2142Leu)
2	g.237336269G>C	CA351191326	COL6A3	c.1476C>G c.8213C>G (p.Pro2738Arg) c.958C>G n.1098C>G c.8831C>G (p.Pro2944Arg) c.7007C>G (p.Pro2336Arg) c.7010C>G (p.Pro2337Arg) n.5273C>G c.8231C>G (p.Pro2744Arg) c.7610C>G (p.Pro2537Arg) c.8330C>G (p.Pro2777Arg) c.8828C>G (p.Pro2943Arg) c.6425C>G (p.Pro2142Arg)
2	g.237336269G>T	CA351191328	COL6A3	c.1476C>A c.8213C>A (p.Pro2738His) c.958C>A n.1098C>A c.8831C>A (p.Pro2944His) c.7007C>A (p.Pro2336His) c.7010C>A (p.Pro2337His) n.5273C>A c.8231C>A (p.Pro2744His) c.7610C>A (p.Pro2537His) c.8330C>A (p.Pro2777His) c.8828C>A (p.Pro2943His) c.6425C>A (p.Pro2142His)
2	g.237336270G>A	CA351191335	COL6A3	c.1475C>T c.8212C>T (p.Pro2738Ser) c.957C>T n.1097C>T c.8830C>T (p.Pro2944Ser) c.7006C>T (p.Pro2336Ser) c.7009C>T (p.Pro2337Ser) n.5272C>T c.8230C>T (p.Pro2744Ser) c.7609C>T (p.Pro2537Ser) c.8329C>T (p.Pro2777Ser) c.8827C>T (p.Pro2943Ser) c.6424C>T (p.Pro2142Ser)	dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.237336270G>C	CA351191331	COL6A3	c.1475C>G c.8212C>G (p.Pro2738Ala) c.957C>G n.1097C>G c.8830C>G (p.Pro2944Ala) c.7006C>G (p.Pro2336Ala) c.7009C>G (p.Pro2337Ala) n.5272C>G c.8230C>G (p.Pro2744Ala) c.7609C>G (p.Pro2537Ala) c.8329C>G (p.Pro2777Ala) c.8827C>G (p.Pro2943Ala) c.6424C>G (p.Pro2142Ala)
2	g.237336270G=	CA1337607109	COL6A3	c.1475C= c.8212C= (p.Pro2738=) c.957C= n.1097C= c.8830C= (p.Pro2944=) c.7006C= (p.Pro2336=) c.7009C= (p.Pro2337=) n.5272C= c.8230C= (p.Pro2744=) c.7609C= (p.Pro2537=) c.8329C= (p.Pro2777=) c.8827C= (p.Pro2943=) c.6424C= (p.Pro2142=)
2	g.237336270G>T	CA351191333	COL6A3	c.1475C>A c.8212C>A (p.Pro2738Thr) c.957C>A n.1097C>A c.8830C>A (p.Pro2944Thr) c.7006C>A (p.Pro2336Thr) c.7009C>A (p.Pro2337Thr) n.5272C>A c.8230C>A (p.Pro2744Thr) c.7609C>A (p.Pro2537Thr) c.8329C>A (p.Pro2777Thr) c.8827C>A (p.Pro2943Thr) c.6424C>A (p.Pro2142Thr)
2	g.237336271C>A	CA351191338	COL6A3	c.1474G>T c.8211G>T (p.Lys2737Asn) c.956G>T n.1096G>T c.8829G>T (p.Lys2943Asn) c.7005G>T (p.Lys2335Asn) c.7008G>T (p.Lys2336Asn) n.5271G>T c.8229G>T (p.Lys2743Asn) c.7608G>T (p.Lys2536Asn) c.8328G>T (p.Lys2776Asn) c.8826G>T (p.Lys2942Asn) c.6423G>T (p.Lys2141Asn)
2	g.237336271C>G	CA351191340	COL6A3	c.1474G>C c.8211G>C (p.Lys2737Asn) c.956G>C n.1096G>C c.8829G>C (p.Lys2943Asn) c.7005G>C (p.Lys2335Asn) c.7008G>C (p.Lys2336Asn) n.5271G>C c.8229G>C (p.Lys2743Asn) c.7608G>C (p.Lys2536Asn) c.8328G>C (p.Lys2776Asn) c.8826G>C (p.Lys2942Asn) c.6423G>C (p.Lys2141Asn)
2	g.237336271C>T	CA431701338	COL6A3	c.1474G>A c.8211G>A (p.Lys2737=) c.956G>A n.1096G>A c.8829G>A (p.Lys2943=) c.7005G>A (p.Lys2335=) c.7008G>A (p.Lys2336=) n.5271G>A c.8229G>A (p.Lys2743=) c.7608G>A (p.Lys2536=) c.8328G>A (p.Lys2776=) c.8826G>A (p.Lys2942=) c.6423G>A (p.Lys2141=)	gnomAD v4
2	g.237336272T>A	CA351191343	COL6A3	c.1473A>T c.8210A>T (p.Lys2737Met) c.955A>T n.1095A>T c.8828A>T (p.Lys2943Met) c.7004A>T (p.Lys2335Met) c.7007A>T (p.Lys2336Met) n.5270A>T c.8228A>T (p.Lys2743Met) c.7607A>T (p.Lys2536Met) c.8327A>T (p.Lys2776Met) c.8825A>T (p.Lys2942Met) c.6422A>T (p.Lys2141Met)
2	g.237336272T>C	CA351191346	COL6A3	c.1473A>G c.8210A>G (p.Lys2737Arg) c.955A>G n.1095A>G c.8828A>G (p.Lys2943Arg) c.7004A>G (p.Lys2335Arg) c.7007A>G (p.Lys2336Arg) n.5270A>G c.8228A>G (p.Lys2743Arg) c.7607A>G (p.Lys2536Arg) c.8327A>G (p.Lys2776Arg) c.8825A>G (p.Lys2942Arg) c.6422A>G (p.Lys2141Arg)	ClinVar dbSNP
2	g.237336272T>G	CA351191348	COL6A3	c.1473A>C c.8210A>C (p.Lys2737Thr) c.955A>C n.1095A>C c.8828A>C (p.Lys2943Thr) c.7004A>C (p.Lys2335Thr) c.7007A>C (p.Lys2336Thr) n.5270A>C c.8228A>C (p.Lys2743Thr) c.7607A>C (p.Lys2536Thr) c.8327A>C (p.Lys2776Thr) c.8825A>C (p.Lys2942Thr) c.6422A>C (p.Lys2141Thr)
2	g.237336272T=	CA1337607110	COL6A3	c.1473A= c.8210A= (p.Lys2737=) c.955A= n.1095A= c.8828A= (p.Lys2943=) c.7004A= (p.Lys2335=) c.7007A= (p.Lys2336=) n.5270A= c.8228A= (p.Lys2743=) c.7607A= (p.Lys2536=) c.8327A= (p.Lys2776=) c.8825A= (p.Lys2942=) c.6422A= (p.Lys2141=)
2	g.237336273T>A	CA351191350	COL6A3	c.1472A>T c.8209A>T (p.Lys2737Ter) c.954A>T n.1094A>T c.8827A>T (p.Lys2943Ter) c.7003A>T (p.Lys2335Ter) c.7006A>T (p.Lys2336Ter) n.5269A>T c.8227A>T (p.Lys2743Ter) c.7606A>T (p.Lys2536Ter) c.8326A>T (p.Lys2776Ter) c.8824A>T (p.Lys2942Ter) c.6421A>T (p.Lys2141Ter)
2	g.237336273T>C	CA351191352	COL6A3	c.1472A>G c.8209A>G (p.Lys2737Glu) c.954A>G n.1094A>G c.8827A>G (p.Lys2943Glu) c.7003A>G (p.Lys2335Glu) c.7006A>G (p.Lys2336Glu) n.5269A>G c.8227A>G (p.Lys2743Glu) c.7606A>G (p.Lys2536Glu) c.8326A>G (p.Lys2776Glu) c.8824A>G (p.Lys2942Glu) c.6421A>G (p.Lys2141Glu)
2	g.237336273T>G	CA351191354	COL6A3	c.1472A>C c.8209A>C (p.Lys2737Gln) c.954A>C n.1094A>C c.8827A>C (p.Lys2943Gln) c.7003A>C (p.Lys2335Gln) c.7006A>C (p.Lys2336Gln) n.5269A>C c.8227A>C (p.Lys2743Gln) c.7606A>C (p.Lys2536Gln) c.8326A>C (p.Lys2776Gln) c.8824A>C (p.Lys2942Gln) c.6421A>C (p.Lys2141Gln)
2	g.237336274C>A	CA431701362	COL6A3	c.1471G>T c.8208G>T (p.Ala2736=) c.953G>T n.1093G>T c.8826G>T (p.Ala2942=) c.7002G>T (p.Ala2334=) c.7005G>T (p.Ala2335=) n.5268G>T c.8226G>T (p.Ala2742=) c.7605G>T (p.Ala2535=) c.8325G>T (p.Ala2775=) c.8823G>T (p.Ala2941=) c.6420G>T (p.Ala2140=)	gnomAD v4
2	g.237336274C=	CA1337607111	COL6A3	c.1471G= c.8208G= (p.Ala2736=) c.953G= n.1093G= c.8826G= (p.Ala2942=) c.7002G= (p.Ala2334=) c.7005G= (p.Ala2335=) n.5268G= c.8226G= (p.Ala2742=) c.7605G= (p.Ala2535=) c.8325G= (p.Ala2775=) c.8823G= (p.Ala2941=) c.6420G= (p.Ala2140=)
2	g.237336274C>G	CA431701367	COL6A3	c.1471G>C c.8208G>C (p.Ala2736=) c.953G>C n.1093G>C c.8826G>C (p.Ala2942=) c.7002G>C (p.Ala2334=) c.7005G>C (p.Ala2335=) n.5268G>C c.8226G>C (p.Ala2742=) c.7605G>C (p.Ala2535=) c.8325G>C (p.Ala2775=) c.8823G>C (p.Ala2941=) c.6420G>C (p.Ala2140=)
2	g.237336274C>T	CA2187436	COL6A3	c.1471G>A c.8208G>A (p.Ala2736=) c.953G>A n.1093G>A c.8826G>A (p.Ala2942=) c.7002G>A (p.Ala2334=) c.7005G>A (p.Ala2335=) n.5268G>A c.8226G>A (p.Ala2742=) c.7605G>A (p.Ala2535=) c.8325G>A (p.Ala2775=) c.8823G>A (p.Ala2941=) c.6420G>A (p.Ala2140=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336275G>A	CA2187437	COL6A3	c.1470C>T c.8207C>T (p.Ala2736Val) c.952C>T n.1092C>T c.8825C>T (p.Ala2942Val) c.7001C>T (p.Ala2334Val) c.7004C>T (p.Ala2335Val) n.5267C>T c.8225C>T (p.Ala2742Val) c.7604C>T (p.Ala2535Val) c.8324C>T (p.Ala2775Val) c.8822C>T (p.Ala2941Val) c.6419C>T (p.Ala2140Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336275G>C	CA351191358	COL6A3	c.1470C>G c.8207C>G (p.Ala2736Gly) c.952C>G n.1092C>G c.8825C>G (p.Ala2942Gly) c.7001C>G (p.Ala2334Gly) c.7004C>G (p.Ala2335Gly) n.5267C>G c.8225C>G (p.Ala2742Gly) c.7604C>G (p.Ala2535Gly) c.8324C>G (p.Ala2775Gly) c.8822C>G (p.Ala2941Gly) c.6419C>G (p.Ala2140Gly)
2	g.237336275G=	CA1337607112	COL6A3	c.1470C= c.8207C= (p.Ala2736=) c.952C= n.1092C= c.8825C= (p.Ala2942=) c.7001C= (p.Ala2334=) c.7004C= (p.Ala2335=) n.5267C= c.8225C= (p.Ala2742=) c.7604C= (p.Ala2535=) c.8324C= (p.Ala2775=) c.8822C= (p.Ala2941=) c.6419C= (p.Ala2140=)
2	g.237336275G>T	CA351191360	COL6A3	c.1470C>A c.8207C>A (p.Ala2736Glu) c.952C>A n.1092C>A c.8825C>A (p.Ala2942Glu) c.7001C>A (p.Ala2334Glu) c.7004C>A (p.Ala2335Glu) n.5267C>A c.8225C>A (p.Ala2742Glu) c.7604C>A (p.Ala2535Glu) c.8324C>A (p.Ala2775Glu) c.8822C>A (p.Ala2941Glu) c.6419C>A (p.Ala2140Glu)	gnomAD v4
2	g.237336276C>A	CA351191366	COL6A3	c.1469G>T c.8206G>T (p.Ala2736Ser) c.951G>T n.1091G>T c.8824G>T (p.Ala2942Ser) c.7000G>T (p.Ala2334Ser) c.7003G>T (p.Ala2335Ser) n.5266G>T c.8224G>T (p.Ala2742Ser) c.7603G>T (p.Ala2535Ser) c.8323G>T (p.Ala2775Ser) c.8821G>T (p.Ala2941Ser) c.6418G>T (p.Ala2140Ser)
2	g.237336276C=	CA1337607113	COL6A3	c.1469G= c.8206G= (p.Ala2736=) c.951G= n.1091G= c.8824G= (p.Ala2942=) c.7000G= (p.Ala2334=) c.7003G= (p.Ala2335=) n.5266G= c.8224G= (p.Ala2742=) c.7603G= (p.Ala2535=) c.8323G= (p.Ala2775=) c.8821G= (p.Ala2941=) c.6418G= (p.Ala2140=)
2	g.237336276C>G	CA351191368	COL6A3	c.1469G>C c.8206G>C (p.Ala2736Pro) c.951G>C n.1091G>C c.8824G>C (p.Ala2942Pro) c.7000G>C (p.Ala2334Pro) c.7003G>C (p.Ala2335Pro) n.5266G>C c.8224G>C (p.Ala2742Pro) c.7603G>C (p.Ala2535Pro) c.8323G>C (p.Ala2775Pro) c.8821G>C (p.Ala2941Pro) c.6418G>C (p.Ala2140Pro)
2	g.237336276C>T	CA351191363	COL6A3	c.1469G>A c.8206G>A (p.Ala2736Thr) c.951G>A n.1091G>A c.8824G>A (p.Ala2942Thr) c.7000G>A (p.Ala2334Thr) c.7003G>A (p.Ala2335Thr) n.5266G>A c.8224G>A (p.Ala2742Thr) c.7603G>A (p.Ala2535Thr) c.8323G>A (p.Ala2775Thr) c.8821G>A (p.Ala2941Thr) c.6418G>A (p.Ala2140Thr)	dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.237336277T>A	CA431701405	COL6A3	c.1468A>T c.8205A>T (p.Ala2735=) c.950A>T n.1090A>T c.8823A>T (p.Ala2941=) c.6999A>T (p.Ala2333=) c.7002A>T (p.Ala2334=) n.5265A>T c.8223A>T (p.Ala2741=) c.7602A>T (p.Ala2534=) c.8322A>T (p.Ala2774=) c.8820A>T (p.Ala2940=) c.6417A>T (p.Ala2139=)
2	g.237336277T>C	CA431701408	COL6A3	c.1468A>G c.8205A>G (p.Ala2735=) c.950A>G n.1090A>G c.8823A>G (p.Ala2941=) c.6999A>G (p.Ala2333=) c.7002A>G (p.Ala2334=) n.5265A>G c.8223A>G (p.Ala2741=) c.7602A>G (p.Ala2534=) c.8322A>G (p.Ala2774=) c.8820A>G (p.Ala2940=) c.6417A>G (p.Ala2139=)
2	g.237336277T>G	CA431701414	COL6A3	c.1468A>C c.8205A>C (p.Ala2735=) c.950A>C n.1090A>C c.8823A>C (p.Ala2941=) c.6999A>C (p.Ala2333=) c.7002A>C (p.Ala2334=) n.5265A>C c.8223A>C (p.Ala2741=) c.7602A>C (p.Ala2534=) c.8322A>C (p.Ala2774=) c.8820A>C (p.Ala2940=) c.6417A>C (p.Ala2139=)
2	g.237336278G>A	CA148075	COL6A3	c.1467C>T c.8204C>T (p.Ala2735Val) c.949C>T n.1089C>T c.8822C>T (p.Ala2941Val) c.6998C>T (p.Ala2333Val) c.7001C>T (p.Ala2334Val) n.5264C>T c.8222C>T (p.Ala2741Val) c.7601C>T (p.Ala2534Val) c.8321C>T (p.Ala2774Val) c.8819C>T (p.Ala2940Val) c.6416C>T (p.Ala2139Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336278G>C	CA351191371	COL6A3	c.1467C>G c.8204C>G (p.Ala2735Gly) c.949C>G n.1089C>G c.8822C>G (p.Ala2941Gly) c.6998C>G (p.Ala2333Gly) c.7001C>G (p.Ala2334Gly) n.5264C>G c.8222C>G (p.Ala2741Gly) c.7601C>G (p.Ala2534Gly) c.8321C>G (p.Ala2774Gly) c.8819C>G (p.Ala2940Gly) c.6416C>G (p.Ala2139Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.237336278G=	CA1337607114	COL6A3	c.1467C= c.8204C= (p.Ala2735=) c.949C= n.1089C= c.8822C= (p.Ala2941=) c.6998C= (p.Ala2333=) c.7001C= (p.Ala2334=) n.5264C= c.8222C= (p.Ala2741=) c.7601C= (p.Ala2534=) c.8321C= (p.Ala2774=) c.8819C= (p.Ala2940=) c.6416C= (p.Ala2139=)
2	g.237336278G>T	CA351191375	COL6A3	c.1467C>A c.8204C>A (p.Ala2735Glu) c.949C>A n.1089C>A c.8822C>A (p.Ala2941Glu) c.6998C>A (p.Ala2333Glu) c.7001C>A (p.Ala2334Glu) n.5264C>A c.8222C>A (p.Ala2741Glu) c.7601C>A (p.Ala2534Glu) c.8321C>A (p.Ala2774Glu) c.8819C>A (p.Ala2940Glu) c.6416C>A (p.Ala2139Glu)
2	g.237336279C>A	CA351191378	COL6A3	c.1466G>T c.8203G>T (p.Ala2735Ser) c.948G>T n.1088G>T c.8821G>T (p.Ala2941Ser) c.6997G>T (p.Ala2333Ser) c.7000G>T (p.Ala2334Ser) n.5263G>T c.8221G>T (p.Ala2741Ser) c.7600G>T (p.Ala2534Ser) c.8320G>T (p.Ala2774Ser) c.8818G>T (p.Ala2940Ser) c.6415G>T (p.Ala2139Ser)
2	g.237336279C>G	CA351191380	COL6A3	c.1466G>C c.8203G>C (p.Ala2735Pro) c.948G>C n.1088G>C c.8821G>C (p.Ala2941Pro) c.6997G>C (p.Ala2333Pro) c.7000G>C (p.Ala2334Pro) n.5263G>C c.8221G>C (p.Ala2741Pro) c.7600G>C (p.Ala2534Pro) c.8320G>C (p.Ala2774Pro) c.8818G>C (p.Ala2940Pro) c.6415G>C (p.Ala2139Pro)
2	g.237336279C>T	CA351191382	COL6A3	c.1466G>A c.8203G>A (p.Ala2735Thr) c.948G>A n.1088G>A c.8821G>A (p.Ala2941Thr) c.6997G>A (p.Ala2333Thr) c.7000G>A (p.Ala2334Thr) n.5263G>A c.8221G>A (p.Ala2741Thr) c.7600G>A (p.Ala2534Thr) c.8320G>A (p.Ala2774Thr) c.8818G>A (p.Ala2940Thr) c.6415G>A (p.Ala2139Thr)
2	g.237336280C>A	CA431701427	COL6A3	c.1465G>T c.8202G>T (p.Thr2734=) c.947G>T n.1087G>T c.8820G>T (p.Thr2940=) c.6996G>T (p.Thr2332=) c.6999G>T (p.Thr2333=) n.5262G>T c.8220G>T (p.Thr2740=) c.7599G>T (p.Thr2533=) c.8319G>T (p.Thr2773=) c.8817G>T (p.Thr2939=) c.6414G>T (p.Thr2138=)
2	g.237336280C=	CA1337607115	COL6A3	c.1465G= c.8202G= (p.Thr2734=) c.947G= n.1087G= c.8820G= (p.Thr2940=) c.6996G= (p.Thr2332=) c.6999G= (p.Thr2333=) n.5262G= c.8220G= (p.Thr2740=) c.7599G= (p.Thr2533=) c.8319G= (p.Thr2773=) c.8817G= (p.Thr2939=) c.6414G= (p.Thr2138=)
2	g.237336280C>G	CA67830523	COL6A3	c.1465G>C c.8202G>C (p.Thr2734=) c.947G>C n.1087G>C c.8820G>C (p.Thr2940=) c.6996G>C (p.Thr2332=) c.6999G>C (p.Thr2333=) n.5262G>C c.8220G>C (p.Thr2740=) c.7599G>C (p.Thr2533=) c.8319G>C (p.Thr2773=) c.8817G>C (p.Thr2939=) c.6414G>C (p.Thr2138=)	dbSNP
2	g.237336280C>T	CA148072	COL6A3	c.1465G>A c.8202G>A (p.Thr2734=) c.947G>A n.1087G>A c.8820G>A (p.Thr2940=) c.6996G>A (p.Thr2332=) c.6999G>A (p.Thr2333=) n.5262G>A c.8220G>A (p.Thr2740=) c.7599G>A (p.Thr2533=) c.8319G>A (p.Thr2773=) c.8817G>A (p.Thr2939=) c.6414G>A (p.Thr2138=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336281G>A	CA245531	COL6A3	c.1464C>T c.8201C>T (p.Thr2734Met) c.946C>T n.1086C>T c.8819C>T (p.Thr2940Met) c.6995C>T (p.Thr2332Met) c.6998C>T (p.Thr2333Met) n.5261C>T c.8219C>T (p.Thr2740Met) c.7598C>T (p.Thr2533Met) c.8318C>T (p.Thr2773Met) c.8816C>T (p.Thr2939Met) c.6413C>T (p.Thr2138Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336281G>C	CA351191388	COL6A3	c.1464C>G c.8201C>G (p.Thr2734Arg) c.946C>G n.1086C>G c.8819C>G (p.Thr2940Arg) c.6995C>G (p.Thr2332Arg) c.6998C>G (p.Thr2333Arg) n.5261C>G c.8219C>G (p.Thr2740Arg) c.7598C>G (p.Thr2533Arg) c.8318C>G (p.Thr2773Arg) c.8816C>G (p.Thr2939Arg) c.6413C>G (p.Thr2138Arg)
2	g.237336281G=	CA1337607116	COL6A3	c.1464C= c.8201C= (p.Thr2734=) c.946C= n.1086C= c.8819C= (p.Thr2940=) c.6995C= (p.Thr2332=) c.6998C= (p.Thr2333=) n.5261C= c.8219C= (p.Thr2740=) c.7598C= (p.Thr2533=) c.8318C= (p.Thr2773=) c.8816C= (p.Thr2939=) c.6413C= (p.Thr2138=)
2	g.237336281G>T	CA351191389	COL6A3	c.1464C>A c.8201C>A (p.Thr2734Lys) c.946C>A n.1086C>A c.8819C>A (p.Thr2940Lys) c.6995C>A (p.Thr2332Lys) c.6998C>A (p.Thr2333Lys) n.5261C>A c.8219C>A (p.Thr2740Lys) c.7598C>A (p.Thr2533Lys) c.8318C>A (p.Thr2773Lys) c.8816C>A (p.Thr2939Lys) c.6413C>A (p.Thr2138Lys)	dbSNP
2	g.237336282T>A	CA351191393	COL6A3	c.1463A>T c.8200A>T (p.Thr2734Ser) c.945A>T n.1085A>T c.8818A>T (p.Thr2940Ser) c.6994A>T (p.Thr2332Ser) c.6997A>T (p.Thr2333Ser) n.5260A>T c.8218A>T (p.Thr2740Ser) c.7597A>T (p.Thr2533Ser) c.8317A>T (p.Thr2773Ser) c.8815A>T (p.Thr2939Ser) c.6412A>T (p.Thr2138Ser)
2	g.237336282T>C	CA351191395	COL6A3	c.1463A>G c.8200A>G (p.Thr2734Ala) c.945A>G n.1085A>G c.8818A>G (p.Thr2940Ala) c.6994A>G (p.Thr2332Ala) c.6997A>G (p.Thr2333Ala) n.5260A>G c.8218A>G (p.Thr2740Ala) c.7597A>G (p.Thr2533Ala) c.8317A>G (p.Thr2773Ala) c.8815A>G (p.Thr2939Ala) c.6412A>G (p.Thr2138Ala)
2	g.237336282T>G	CA351191397	COL6A3	c.1463A>C c.8200A>C (p.Thr2734Pro) c.945A>C n.1085A>C c.8818A>C (p.Thr2940Pro) c.6994A>C (p.Thr2332Pro) c.6997A>C (p.Thr2333Pro) n.5260A>C c.8218A>C (p.Thr2740Pro) c.7597A>C (p.Thr2533Pro) c.8317A>C (p.Thr2773Pro) c.8815A>C (p.Thr2939Pro) c.6412A>C (p.Thr2138Pro)
2	g.237336283del	CA2663792158	COL6A3	c.1463del c.8200del (p.Thr2734ArgfsTer6) c.945del n.1085del c.8818del (p.Thr2940ArgfsTer6) c.6994del (p.Thr2332ArgfsTer6) c.6997del (p.Thr2333ArgfsTer6) n.5260del c.8218del (p.Thr2740ArgfsTer6) c.7597del (p.Thr2533ArgfsTer6) c.8317del (p.Thr2773ArgfsTer6) c.8815del (p.Thr2939ArgfsTer6) c.6412del (p.Thr2138ArgfsTer6)	gnomAD v4
2	g.237336283T>A	CA431701450	COL6A3	c.1462A>T c.8199A>T (p.Ala2733=) c.944A>T n.1084A>T c.8817A>T (p.Ala2939=) c.6993A>T (p.Ala2331=) c.6996A>T (p.Ala2332=) n.5259A>T c.8217A>T (p.Ala2739=) c.7596A>T (p.Ala2532=) c.8316A>T (p.Ala2772=) c.8814A>T (p.Ala2938=) c.6411A>T (p.Ala2137=)
2	g.237336283T>C	CA431701448	COL6A3	c.1462A>G c.8199A>G (p.Ala2733=) c.944A>G n.1084A>G c.8817A>G (p.Ala2939=) c.6993A>G (p.Ala2331=) c.6996A>G (p.Ala2332=) n.5259A>G c.8217A>G (p.Ala2739=) c.7596A>G (p.Ala2532=) c.8316A>G (p.Ala2772=) c.8814A>G (p.Ala2938=) c.6411A>G (p.Ala2137=)
2	g.237336283T>G	CA431701449	COL6A3	c.1462A>C c.8199A>C (p.Ala2733=) c.944A>C n.1084A>C c.8817A>C (p.Ala2939=) c.6993A>C (p.Ala2331=) c.6996A>C (p.Ala2332=) n.5259A>C c.8217A>C (p.Ala2739=) c.7596A>C (p.Ala2532=) c.8316A>C (p.Ala2772=) c.8814A>C (p.Ala2938=) c.6411A>C (p.Ala2137=)
2	g.237336284G>A	CA351191400	COL6A3	c.1461C>T c.8198C>T (p.Ala2733Val) c.943C>T n.1083C>T c.8816C>T (p.Ala2939Val) c.6992C>T (p.Ala2331Val) c.6995C>T (p.Ala2332Val) n.5258C>T c.8216C>T (p.Ala2739Val) c.7595C>T (p.Ala2532Val) c.8315C>T (p.Ala2772Val) c.8813C>T (p.Ala2938Val) c.6410C>T (p.Ala2137Val)
2	g.237336284G>C	CA351191402	COL6A3	c.1461C>G c.8198C>G (p.Ala2733Gly) c.943C>G n.1083C>G c.8816C>G (p.Ala2939Gly) c.6992C>G (p.Ala2331Gly) c.6995C>G (p.Ala2332Gly) n.5258C>G c.8216C>G (p.Ala2739Gly) c.7595C>G (p.Ala2532Gly) c.8315C>G (p.Ala2772Gly) c.8813C>G (p.Ala2938Gly) c.6410C>G (p.Ala2137Gly)
2	g.237336284G>T	CA351191404	COL6A3	c.1461C>A c.8198C>A (p.Ala2733Glu) c.943C>A n.1083C>A c.8816C>A (p.Ala2939Glu) c.6992C>A (p.Ala2331Glu) c.6995C>A (p.Ala2332Glu) n.5258C>A c.8216C>A (p.Ala2739Glu) c.7595C>A (p.Ala2532Glu) c.8315C>A (p.Ala2772Glu) c.8813C>A (p.Ala2938Glu) c.6410C>A (p.Ala2137Glu)
2	g.237336285C>A	CA351191411	COL6A3	c.1460G>T c.8197G>T (p.Ala2733Ser) c.942G>T n.1082G>T c.8815G>T (p.Ala2939Ser) c.6991G>T (p.Ala2331Ser) c.6994G>T (p.Ala2332Ser) n.5257G>T c.8215G>T (p.Ala2739Ser) c.7594G>T (p.Ala2532Ser) c.8314G>T (p.Ala2772Ser) c.8812G>T (p.Ala2938Ser) c.6409G>T (p.Ala2137Ser)
2	g.237336285C>G	CA351191407	COL6A3	c.1460G>C c.8197G>C (p.Ala2733Pro) c.942G>C n.1082G>C c.8815G>C (p.Ala2939Pro) c.6991G>C (p.Ala2331Pro) c.6994G>C (p.Ala2332Pro) n.5257G>C c.8215G>C (p.Ala2739Pro) c.7594G>C (p.Ala2532Pro) c.8314G>C (p.Ala2772Pro) c.8812G>C (p.Ala2938Pro) c.6409G>C (p.Ala2137Pro)
2	g.237336285C>T	CA351191409	COL6A3	c.1460G>A c.8197G>A (p.Ala2733Thr) c.942G>A n.1082G>A c.8815G>A (p.Ala2939Thr) c.6991G>A (p.Ala2331Thr) c.6994G>A (p.Ala2332Thr) n.5257G>A c.8215G>A (p.Ala2739Thr) c.7594G>A (p.Ala2532Thr) c.8314G>A (p.Ala2772Thr) c.8812G>A (p.Ala2938Thr) c.6409G>A (p.Ala2137Thr)
2	g.237336286T>A	CA431701469	COL6A3	c.1459A>T c.8196A>T (p.Pro2732=) c.941A>T n.1081A>T c.8814A>T (p.Pro2938=) c.6990A>T (p.Pro2330=) c.6993A>T (p.Pro2331=) n.5256A>T c.8214A>T (p.Pro2738=) c.7593A>T (p.Pro2531=) c.8313A>T (p.Pro2771=) c.8811A>T (p.Pro2937=) c.6408A>T (p.Pro2136=)
2	g.237336286T>C	CA431701473	COL6A3	c.1459A>G c.8196A>G (p.Pro2732=) c.941A>G n.1081A>G c.8814A>G (p.Pro2938=) c.6990A>G (p.Pro2330=) c.6993A>G (p.Pro2331=) n.5256A>G c.8214A>G (p.Pro2738=) c.7593A>G (p.Pro2531=) c.8313A>G (p.Pro2771=) c.8811A>G (p.Pro2937=) c.6408A>G (p.Pro2136=)	dbSNP
2	g.237336286T>G	CA431701478	COL6A3	c.1459A>C c.8196A>C (p.Pro2732=) c.941A>C n.1081A>C c.8814A>C (p.Pro2938=) c.6990A>C (p.Pro2330=) c.6993A>C (p.Pro2331=) n.5256A>C c.8214A>C (p.Pro2738=) c.7593A>C (p.Pro2531=) c.8313A>C (p.Pro2771=) c.8811A>C (p.Pro2937=) c.6408A>C (p.Pro2136=)
2	g.237336286T=	CA1337607117	COL6A3	c.1459A= c.8196A= (p.Pro2732=) c.941A= n.1081A= c.8814A= (p.Pro2938=) c.6990A= (p.Pro2330=) c.6993A= (p.Pro2331=) n.5256A= c.8214A= (p.Pro2738=) c.7593A= (p.Pro2531=) c.8313A= (p.Pro2771=) c.8811A= (p.Pro2937=) c.6408A= (p.Pro2136=)
2	g.237336287G>A	CA351191414	COL6A3	c.1458C>T c.8195C>T (p.Pro2732Leu) c.940C>T n.1080C>T c.8813C>T (p.Pro2938Leu) c.6989C>T (p.Pro2330Leu) c.6992C>T (p.Pro2331Leu) n.5255C>T c.8213C>T (p.Pro2738Leu) c.7592C>T (p.Pro2531Leu) c.8312C>T (p.Pro2771Leu) c.8810C>T (p.Pro2937Leu) c.6407C>T (p.Pro2136Leu)
2	g.237336287G>C	CA351191416	COL6A3	c.1458C>G c.8195C>G (p.Pro2732Arg) c.940C>G n.1080C>G c.8813C>G (p.Pro2938Arg) c.6989C>G (p.Pro2330Arg) c.6992C>G (p.Pro2331Arg) n.5255C>G c.8213C>G (p.Pro2738Arg) c.7592C>G (p.Pro2531Arg) c.8312C>G (p.Pro2771Arg) c.8810C>G (p.Pro2937Arg) c.6407C>G (p.Pro2136Arg)
2	g.237336287G>T	CA351191418	COL6A3	c.1458C>A c.8195C>A (p.Pro2732Gln) c.940C>A n.1080C>A c.8813C>A (p.Pro2938Gln) c.6989C>A (p.Pro2330Gln) c.6992C>A (p.Pro2331Gln) n.5255C>A c.8213C>A (p.Pro2738Gln) c.7592C>A (p.Pro2531Gln) c.8312C>A (p.Pro2771Gln) c.8810C>A (p.Pro2937Gln) c.6407C>A (p.Pro2136Gln)
2	g.237336288G>A	CA351191421	COL6A3	c.1457C>T c.8194C>T (p.Pro2732Ser) c.939C>T n.1079C>T c.8812C>T (p.Pro2938Ser) c.6988C>T (p.Pro2330Ser) c.6991C>T (p.Pro2331Ser) n.5254C>T c.8212C>T (p.Pro2738Ser) c.7591C>T (p.Pro2531Ser) c.8311C>T (p.Pro2771Ser) c.8809C>T (p.Pro2937Ser) c.6406C>T (p.Pro2136Ser)
2	g.237336288G>C	CA351191423	COL6A3	c.1457C>G c.8194C>G (p.Pro2732Ala) c.939C>G n.1079C>G c.8812C>G (p.Pro2938Ala) c.6988C>G (p.Pro2330Ala) c.6991C>G (p.Pro2331Ala) n.5254C>G c.8212C>G (p.Pro2738Ala) c.7591C>G (p.Pro2531Ala) c.8311C>G (p.Pro2771Ala) c.8809C>G (p.Pro2937Ala) c.6406C>G (p.Pro2136Ala)
2	g.237336288G>T	CA351191425	COL6A3	c.1457C>A c.8194C>A (p.Pro2732Thr) c.939C>A n.1079C>A c.8812C>A (p.Pro2938Thr) c.6988C>A (p.Pro2330Thr) c.6991C>A (p.Pro2331Thr) n.5254C>A c.8212C>A (p.Pro2738Thr) c.7591C>A (p.Pro2531Thr) c.8311C>A (p.Pro2771Thr) c.8809C>A (p.Pro2937Thr) c.6406C>A (p.Pro2136Thr)
2	g.237336289C>A	CA351191428	COL6A3	c.1456G>T c.8193G>T (p.Lys2731Asn) c.938G>T n.1078G>T c.8811G>T (p.Lys2937Asn) c.6987G>T (p.Lys2329Asn) c.6990G>T (p.Lys2330Asn) n.5253G>T c.8211G>T (p.Lys2737Asn) c.7590G>T (p.Lys2530Asn) c.8310G>T (p.Lys2770Asn) c.8808G>T (p.Lys2936Asn) c.6405G>T (p.Lys2135Asn)
2	g.237336289C>G	CA351191429	COL6A3	c.1456G>C c.8193G>C (p.Lys2731Asn) c.938G>C n.1078G>C c.8811G>C (p.Lys2937Asn) c.6987G>C (p.Lys2329Asn) c.6990G>C (p.Lys2330Asn) n.5253G>C c.8211G>C (p.Lys2737Asn) c.7590G>C (p.Lys2530Asn) c.8310G>C (p.Lys2770Asn) c.8808G>C (p.Lys2936Asn) c.6405G>C (p.Lys2135Asn)
2	g.237336289C>T	CA431701509	COL6A3	c.1456G>A c.8193G>A (p.Lys2731=) c.938G>A n.1078G>A c.8811G>A (p.Lys2937=) c.6987G>A (p.Lys2329=) c.6990G>A (p.Lys2330=) n.5253G>A c.8211G>A (p.Lys2737=) c.7590G>A (p.Lys2530=) c.8310G>A (p.Lys2770=) c.8808G>A (p.Lys2936=) c.6405G>A (p.Lys2135=)
2	g.237336290T>A	CA351191432	COL6A3	c.1455A>T c.8192A>T (p.Lys2731Met) c.937A>T n.1077A>T c.8810A>T (p.Lys2937Met) c.6986A>T (p.Lys2329Met) c.6989A>T (p.Lys2330Met) n.5252A>T c.8210A>T (p.Lys2737Met) c.7589A>T (p.Lys2530Met) c.8309A>T (p.Lys2770Met) c.8807A>T (p.Lys2936Met) c.6404A>T (p.Lys2135Met)
2	g.237336290T>C	CA2187438	COL6A3	c.1455A>G c.8192A>G (p.Lys2731Arg) c.937A>G n.1077A>G c.8810A>G (p.Lys2937Arg) c.6986A>G (p.Lys2329Arg) c.6989A>G (p.Lys2330Arg) n.5252A>G c.8210A>G (p.Lys2737Arg) c.7589A>G (p.Lys2530Arg) c.8309A>G (p.Lys2770Arg) c.8807A>G (p.Lys2936Arg) c.6404A>G (p.Lys2135Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336290T>G	CA351191436	COL6A3	c.1455A>C c.8192A>C (p.Lys2731Thr) c.937A>C n.1077A>C c.8810A>C (p.Lys2937Thr) c.6986A>C (p.Lys2329Thr) c.6989A>C (p.Lys2330Thr) n.5252A>C c.8210A>C (p.Lys2737Thr) c.7589A>C (p.Lys2530Thr) c.8309A>C (p.Lys2770Thr) c.8807A>C (p.Lys2936Thr) c.6404A>C (p.Lys2135Thr)
2	g.237336290T=	CA1337607118	COL6A3	c.1455A= c.8192A= (p.Lys2731=) c.937A= n.1077A= c.8810A= (p.Lys2937=) c.6986A= (p.Lys2329=) c.6989A= (p.Lys2330=) n.5252A= c.8210A= (p.Lys2737=) c.7589A= (p.Lys2530=) c.8309A= (p.Lys2770=) c.8807A= (p.Lys2936=) c.6404A= (p.Lys2135=)
2	g.237336291T>A	CA351191444	COL6A3	c.1454A>T c.8191A>T (p.Lys2731Ter) c.936A>T n.1076A>T c.8809A>T (p.Lys2937Ter) c.6985A>T (p.Lys2329Ter) c.6988A>T (p.Lys2330Ter) n.5251A>T c.8209A>T (p.Lys2737Ter) c.7588A>T (p.Lys2530Ter) c.8308A>T (p.Lys2770Ter) c.8806A>T (p.Lys2936Ter) c.6403A>T (p.Lys2135Ter)
2	g.237336291T>C	CA351191442	COL6A3	c.1454A>G c.8191A>G (p.Lys2731Glu) c.936A>G n.1076A>G c.8809A>G (p.Lys2937Glu) c.6985A>G (p.Lys2329Glu) c.6988A>G (p.Lys2330Glu) n.5251A>G c.8209A>G (p.Lys2737Glu) c.7588A>G (p.Lys2530Glu) c.8308A>G (p.Lys2770Glu) c.8806A>G (p.Lys2936Glu) c.6403A>G (p.Lys2135Glu)
2	g.237336291T>G	CA351191439	COL6A3	c.1454A>C c.8191A>C (p.Lys2731Gln) c.936A>C n.1076A>C c.8809A>C (p.Lys2937Gln) c.6985A>C (p.Lys2329Gln) c.6988A>C (p.Lys2330Gln) n.5251A>C c.8209A>C (p.Lys2737Gln) c.7588A>C (p.Lys2530Gln) c.8308A>C (p.Lys2770Gln) c.8806A>C (p.Lys2936Gln) c.6403A>C (p.Lys2135Gln)
2	g.237336291_237336297delinsTCACCGC	CA1337607119	COL6A3	c.1448_1454delinsGCGGTGA c.8185_8191delinsGCGGTGA (p.Ala2729=) c.930_936delinsGCGGTGA n.1070_1076delinsGCGGTGA c.8803_8809delinsGCGGTGA (p.Ala2935=) c.6979_6985delinsGCGGTGA (p.Ala2327=) c.6982_6988delinsGCGGTGA (p.Ala2328=) n.5245_5251delinsGCGGTGA c.8203_8209delinsGCGGTGA (p.Ala2735=) c.7582_7588delinsGCGGTGA (p.Ala2528=) c.8302_8308delinsGCGGTGA (p.Ala2768=) c.8800_8806delinsGCGGTGA (p.Ala2934=) c.6397_6403delinsGCGGTGA (p.Ala2133=)
2	g.237336292C>A	CA431701535	COL6A3	c.1453G>T c.8190G>T (p.Val2730=) c.935G>T n.1075G>T c.8808G>T (p.Val2936=) c.6984G>T (p.Val2328=) c.6987G>T (p.Val2329=) n.5250G>T c.8208G>T (p.Val2736=) c.7587G>T (p.Val2529=) c.8307G>T (p.Val2769=) c.8805G>T (p.Val2935=) c.6402G>T (p.Val2134=)	COSMIC
2	g.237336292C=	CA1337607120	COL6A3	c.1453G= c.8190G= (p.Val2730=) c.935G= n.1075G= c.8808G= (p.Val2936=) c.6984G= (p.Val2328=) c.6987G= (p.Val2329=) n.5250G= c.8208G= (p.Val2736=) c.7587G= (p.Val2529=) c.8307G= (p.Val2769=) c.8805G= (p.Val2935=) c.6402G= (p.Val2134=)
2	g.237336292C>G	CA431701538	COL6A3	c.1453G>C c.8190G>C (p.Val2730=) c.935G>C n.1075G>C c.8808G>C (p.Val2936=) c.6984G>C (p.Val2328=) c.6987G>C (p.Val2329=) n.5250G>C c.8208G>C (p.Val2736=) c.7587G>C (p.Val2529=) c.8307G>C (p.Val2769=) c.8805G>C (p.Val2935=) c.6402G>C (p.Val2134=)
2	g.237336292C>T	CA2187439	COL6A3	c.1453G>A c.8190G>A (p.Val2730=) c.935G>A n.1075G>A c.8808G>A (p.Val2936=) c.6984G>A (p.Val2328=) c.6987G>A (p.Val2329=) n.5250G>A c.8208G>A (p.Val2736=) c.7587G>A (p.Val2529=) c.8307G>A (p.Val2769=) c.8805G>A (p.Val2935=) c.6402G>A (p.Val2134=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336295_237336300del	CA540749774	COL6A3	c.1448_1453del c.8185_8190del (p.Ala2729_Val2730del) c.930_935del n.1070_1075del c.8803_8808del (p.Ala2935_Val2936del) c.6979_6984del (p.Ala2327_Val2328del) c.6982_6987del (p.Ala2328_Val2329del) n.5245_5250del c.8203_8208del (p.Ala2735_Val2736del) c.7582_7587del (p.Ala2528_Val2529del) c.8302_8307del (p.Ala2768_Val2769del) c.8800_8805del (p.Ala2934_Val2935del) c.6397_6402del (p.Ala2133_Val2134del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336293A=	CA1337607121	COL6A3	c.1452T= c.8189T= (p.Val2730=) c.934T= n.1074T= c.8807T= (p.Val2936=) c.6983T= (p.Val2328=) c.6986T= (p.Val2329=) n.5249T= c.8207T= (p.Val2736=) c.7586T= (p.Val2529=) c.8306T= (p.Val2769=) c.8804T= (p.Val2935=) c.6401T= (p.Val2134=)
2	g.237336293A>C	CA351191449	COL6A3	c.1452T>G c.8189T>G (p.Val2730Gly) c.934T>G n.1074T>G c.8807T>G (p.Val2936Gly) c.6983T>G (p.Val2328Gly) c.6986T>G (p.Val2329Gly) n.5249T>G c.8207T>G (p.Val2736Gly) c.7586T>G (p.Val2529Gly) c.8306T>G (p.Val2769Gly) c.8804T>G (p.Val2935Gly) c.6401T>G (p.Val2134Gly)
2	g.237336293A>G	CA351191451	COL6A3	c.1452T>C c.8189T>C (p.Val2730Ala) c.934T>C n.1074T>C c.8807T>C (p.Val2936Ala) c.6983T>C (p.Val2328Ala) c.6986T>C (p.Val2329Ala) n.5249T>C c.8207T>C (p.Val2736Ala) c.7586T>C (p.Val2529Ala) c.8306T>C (p.Val2769Ala) c.8804T>C (p.Val2935Ala) c.6401T>C (p.Val2134Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336293A>T	CA351191475	COL6A3	c.1452T>A c.8189T>A (p.Val2730Glu) c.934T>A n.1074T>A c.8807T>A (p.Val2936Glu) c.6983T>A (p.Val2328Glu) c.6986T>A (p.Val2329Glu) n.5249T>A c.8207T>A (p.Val2736Glu) c.7586T>A (p.Val2529Glu) c.8306T>A (p.Val2769Glu) c.8804T>A (p.Val2935Glu) c.6401T>A (p.Val2134Glu)
2	g.237336294C>A	CA351191479	COL6A3	c.1451G>T c.8188G>T (p.Val2730Leu) c.933G>T n.1073G>T c.8806G>T (p.Val2936Leu) c.6982G>T (p.Val2328Leu) c.6985G>T (p.Val2329Leu) n.5248G>T c.8206G>T (p.Val2736Leu) c.7585G>T (p.Val2529Leu) c.8305G>T (p.Val2769Leu) c.8803G>T (p.Val2935Leu) c.6400G>T (p.Val2134Leu)
2	g.237336294C>G	CA351191481	COL6A3	c.1451G>C c.8188G>C (p.Val2730Leu) c.933G>C n.1073G>C c.8806G>C (p.Val2936Leu) c.6982G>C (p.Val2328Leu) c.6985G>C (p.Val2329Leu) n.5248G>C c.8206G>C (p.Val2736Leu) c.7585G>C (p.Val2529Leu) c.8305G>C (p.Val2769Leu) c.8803G>C (p.Val2935Leu) c.6400G>C (p.Val2134Leu)
2	g.237336294C>T	CA351191483	COL6A3	c.1451G>A c.8188G>A (p.Val2730Met) c.933G>A n.1073G>A c.8806G>A (p.Val2936Met) c.6982G>A (p.Val2328Met) c.6985G>A (p.Val2329Met) n.5248G>A c.8206G>A (p.Val2736Met) c.7585G>A (p.Val2529Met) c.8305G>A (p.Val2769Met) c.8803G>A (p.Val2935Met) c.6400G>A (p.Val2134Met)	gnomAD v4
2	g.237336295C>A	CA431701561	COL6A3	c.1450G>T c.8187G>T (p.Ala2729=) c.932G>T n.1072G>T c.8805G>T (p.Ala2935=) c.6981G>T (p.Ala2327=) c.6984G>T (p.Ala2328=) n.5247G>T c.8205G>T (p.Ala2735=) c.7584G>T (p.Ala2528=) c.8304G>T (p.Ala2768=) c.8802G>T (p.Ala2934=) c.6399G>T (p.Ala2133=)
2	g.237336295C=	CA1337607122	COL6A3	c.1450G= c.8187G= (p.Ala2729=) c.932G= n.1072G= c.8805G= (p.Ala2935=) c.6981G= (p.Ala2327=) c.6984G= (p.Ala2328=) n.5247G= c.8205G= (p.Ala2735=) c.7584G= (p.Ala2528=) c.8304G= (p.Ala2768=) c.8802G= (p.Ala2934=) c.6399G= (p.Ala2133=)
2	g.237336295C>G	CA431701557	COL6A3	c.1450G>C c.8187G>C (p.Ala2729=) c.932G>C n.1072G>C c.8805G>C (p.Ala2935=) c.6981G>C (p.Ala2327=) c.6984G>C (p.Ala2328=) n.5247G>C c.8205G>C (p.Ala2735=) c.7584G>C (p.Ala2528=) c.8304G>C (p.Ala2768=) c.8802G>C (p.Ala2934=) c.6399G>C (p.Ala2133=)
2	g.237336295C>T	CA2187440	COL6A3	c.1450G>A c.8187G>A (p.Ala2729=) c.932G>A n.1072G>A c.8805G>A (p.Ala2935=) c.6981G>A (p.Ala2327=) c.6984G>A (p.Ala2328=) n.5247G>A c.8205G>A (p.Ala2735=) c.7584G>A (p.Ala2528=) c.8304G>A (p.Ala2768=) c.8802G>A (p.Ala2934=) c.6399G>A (p.Ala2133=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336296G>A	CA2187441	COL6A3	c.1449C>T c.8186C>T (p.Ala2729Val) c.931C>T n.1071C>T c.8804C>T (p.Ala2935Val) c.6980C>T (p.Ala2327Val) c.6983C>T (p.Ala2328Val) n.5246C>T c.8204C>T (p.Ala2735Val) c.7583C>T (p.Ala2528Val) c.8303C>T (p.Ala2768Val) c.8801C>T (p.Ala2934Val) c.6398C>T (p.Ala2133Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336296G>C	CA351191489	COL6A3	c.1449C>G c.8186C>G (p.Ala2729Gly) c.931C>G n.1071C>G c.8804C>G (p.Ala2935Gly) c.6980C>G (p.Ala2327Gly) c.6983C>G (p.Ala2328Gly) n.5246C>G c.8204C>G (p.Ala2735Gly) c.7583C>G (p.Ala2528Gly) c.8303C>G (p.Ala2768Gly) c.8801C>G (p.Ala2934Gly) c.6398C>G (p.Ala2133Gly)
2	g.237336296G=	CA1337607123	COL6A3	c.1449C= c.8186C= (p.Ala2729=) c.931C= n.1071C= c.8804C= (p.Ala2935=) c.6980C= (p.Ala2327=) c.6983C= (p.Ala2328=) n.5246C= c.8204C= (p.Ala2735=) c.7583C= (p.Ala2528=) c.8303C= (p.Ala2768=) c.8801C= (p.Ala2934=) c.6398C= (p.Ala2133=)
2	g.237336296G>T	CA2187442	COL6A3	c.1449C>A c.8186C>A (p.Ala2729Glu) c.931C>A n.1071C>A c.8804C>A (p.Ala2935Glu) c.6980C>A (p.Ala2327Glu) c.6983C>A (p.Ala2328Glu) n.5246C>A c.8204C>A (p.Ala2735Glu) c.7583C>A (p.Ala2528Glu) c.8303C>A (p.Ala2768Glu) c.8801C>A (p.Ala2934Glu) c.6398C>A (p.Ala2133Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336297C>A	CA351191493	COL6A3	c.1448G>T c.8185G>T (p.Ala2729Ser) c.930G>T n.1070G>T c.8803G>T (p.Ala2935Ser) c.6979G>T (p.Ala2327Ser) c.6982G>T (p.Ala2328Ser) n.5245G>T c.8203G>T (p.Ala2735Ser) c.7582G>T (p.Ala2528Ser) c.8302G>T (p.Ala2768Ser) c.8800G>T (p.Ala2934Ser) c.6397G>T (p.Ala2133Ser)
2	g.237336297C>G	CA351191495	COL6A3	c.1448G>C c.8185G>C (p.Ala2729Pro) c.930G>C n.1070G>C c.8803G>C (p.Ala2935Pro) c.6979G>C (p.Ala2327Pro) c.6982G>C (p.Ala2328Pro) n.5245G>C c.8203G>C (p.Ala2735Pro) c.7582G>C (p.Ala2528Pro) c.8302G>C (p.Ala2768Pro) c.8800G>C (p.Ala2934Pro) c.6397G>C (p.Ala2133Pro)
2	g.237336297C>T	CA351191505	COL6A3	c.1448G>A c.8185G>A (p.Ala2729Thr) c.930G>A n.1070G>A c.8803G>A (p.Ala2935Thr) c.6979G>A (p.Ala2327Thr) c.6982G>A (p.Ala2328Thr) n.5245G>A c.8203G>A (p.Ala2735Thr) c.7582G>A (p.Ala2528Thr) c.8302G>A (p.Ala2768Thr) c.8800G>A (p.Ala2934Thr) c.6397G>A (p.Ala2133Thr)	gnomAD v4
2	g.237336298C>A	CA431701590	COL6A3	c.1447G>T c.8184G>T (p.Val2728=) c.929G>T n.1069G>T c.8802G>T (p.Val2934=) c.6978G>T (p.Val2326=) c.6981G>T (p.Val2327=) n.5244G>T c.8202G>T (p.Val2734=) c.7581G>T (p.Val2527=) c.8301G>T (p.Val2767=) c.8799G>T (p.Val2933=) c.6396G>T (p.Val2132=)
2	g.237336298C>G	CA431701593	COL6A3	c.1447G>C c.8184G>C (p.Val2728=) c.929G>C n.1069G>C c.8802G>C (p.Val2934=) c.6978G>C (p.Val2326=) c.6981G>C (p.Val2327=) n.5244G>C c.8202G>C (p.Val2734=) c.7581G>C (p.Val2527=) c.8301G>C (p.Val2767=) c.8799G>C (p.Val2933=) c.6396G>C (p.Val2132=)
2	g.237336298C>T	CA431701596	COL6A3	c.1447G>A c.8184G>A (p.Val2728=) c.929G>A n.1069G>A c.8802G>A (p.Val2934=) c.6978G>A (p.Val2326=) c.6981G>A (p.Val2327=) n.5244G>A c.8202G>A (p.Val2734=) c.7581G>A (p.Val2527=) c.8301G>A (p.Val2767=) c.8799G>A (p.Val2933=) c.6396G>A (p.Val2132=)

Number of alleles fetched