Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.237336360_237336374del	CA2663792160	COL6A3	c.1375_1389del c.8112_8126del (p.Lys2705_Ala2709del) c.857_871del n.997_1011del c.8730_8744del (p.Lys2911_Ala2915del) c.6906_6920del (p.Lys2303_Ala2307del) c.6909_6923del (p.Lys2304_Ala2308del) n.5172_5186del c.8130_8144del (p.Lys2711_Ala2715del) c.7509_7523del (p.Lys2504_Ala2508del) c.8229_8243del (p.Lys2744_Ala2748del) c.8727_8741del (p.Lys2910_Ala2914del) c.6324_6338del (p.Lys2109_Ala2113del)	gnomAD v4
2	g.237336364_237336379delinsCGGCTTTGCAGCGGCT	CA1337607160	COL6A3	c.1366_1381delinsAGCCGCTGCAAAGCCG c.8103_8118delinsAGCCGCTGCAAAGCCG (p.Pro2701=) c.848_863delinsAGCCGCTGCAAAGCCG n.988_1003delinsAGCCGCTGCAAAGCCG c.8721_8736delinsAGCCGCTGCAAAGCCG (p.Pro2907=) c.6897_6912delinsAGCCGCTGCAAAGCCG (p.Pro2299=) c.6900_6915delinsAGCCGCTGCAAAGCCG (p.Pro2300=) n.5163_5178delinsAGCCGCTGCAAAGCCG c.8121_8136delinsAGCCGCTGCAAAGCCG (p.Pro2707=) c.7500_7515delinsAGCCGCTGCAAAGCCG (p.Pro2500=) c.8220_8235delinsAGCCGCTGCAAAGCCG (p.Pro2740=) c.8718_8733delinsAGCCGCTGCAAAGCCG (p.Pro2906=) c.6315_6330delinsAGCCGCTGCAAAGCCG (p.Pro2105=)
2	g.237336370_237336384del	CA1337607161	COL6A3	c.1366_1380del c.8103_8117del (p.Ala2702_Pro2706del) c.848_862del n.988_1002del c.8721_8735del (p.Ala2908_Pro2912del) c.6897_6911del (p.Ala2300_Pro2304del) c.6900_6914del (p.Ala2301_Pro2305del) n.5163_5177del c.8121_8135del (p.Ala2708_Pro2712del) c.7500_7514del (p.Ala2501_Pro2505del) c.8220_8234del (p.Ala2741_Pro2745del) c.8718_8732del (p.Ala2907_Pro2911del) c.6315_6329del (p.Ala2106_Pro2110del)	dbSNP gnomAD v4
2	g.237336371G>A	CA2187456	COL6A3	c.1374C>T c.8111C>T (p.Ala2704Val) c.856C>T n.996C>T c.8729C>T (p.Ala2910Val) c.6905C>T (p.Ala2302Val) c.6908C>T (p.Ala2303Val) n.5171C>T c.8129C>T (p.Ala2710Val) c.7508C>T (p.Ala2503Val) c.8228C>T (p.Ala2743Val) c.8726C>T (p.Ala2909Val) c.6323C>T (p.Ala2108Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336371G>C	CA351191760	COL6A3	c.1374C>G c.8111C>G (p.Ala2704Gly) c.856C>G n.996C>G c.8729C>G (p.Ala2910Gly) c.6905C>G (p.Ala2302Gly) c.6908C>G (p.Ala2303Gly) n.5171C>G c.8129C>G (p.Ala2710Gly) c.7508C>G (p.Ala2503Gly) c.8228C>G (p.Ala2743Gly) c.8726C>G (p.Ala2909Gly) c.6323C>G (p.Ala2108Gly)
2	g.237336371G=	CA1337607164	COL6A3	c.1374C= c.8111C= (p.Ala2704=) c.856C= n.996C= c.8729C= (p.Ala2910=) c.6905C= (p.Ala2302=) c.6908C= (p.Ala2303=) n.5171C= c.8129C= (p.Ala2710=) c.7508C= (p.Ala2503=) c.8228C= (p.Ala2743=) c.8726C= (p.Ala2909=) c.6323C= (p.Ala2108=)
2	g.237336371G>T	CA351191761	COL6A3	c.1374C>A c.8111C>A (p.Ala2704Glu) c.856C>A n.996C>A c.8729C>A (p.Ala2910Glu) c.6905C>A (p.Ala2302Glu) c.6908C>A (p.Ala2303Glu) n.5171C>A c.8129C>A (p.Ala2710Glu) c.7508C>A (p.Ala2503Glu) c.8228C>A (p.Ala2743Glu) c.8726C>A (p.Ala2909Glu) c.6323C>A (p.Ala2108Glu)
2	g.237336372C>A	CA351191762	COL6A3	c.1373G>T c.8110G>T (p.Ala2704Ser) c.855G>T n.995G>T c.8728G>T (p.Ala2910Ser) c.6904G>T (p.Ala2302Ser) c.6907G>T (p.Ala2303Ser) n.5170G>T c.8128G>T (p.Ala2710Ser) c.7507G>T (p.Ala2503Ser) c.8227G>T (p.Ala2743Ser) c.8725G>T (p.Ala2909Ser) c.6322G>T (p.Ala2108Ser)
2	g.237336372C>G	CA351191763	COL6A3	c.1373G>C c.8110G>C (p.Ala2704Pro) c.855G>C n.995G>C c.8728G>C (p.Ala2910Pro) c.6904G>C (p.Ala2302Pro) c.6907G>C (p.Ala2303Pro) n.5170G>C c.8128G>C (p.Ala2710Pro) c.7507G>C (p.Ala2503Pro) c.8227G>C (p.Ala2743Pro) c.8725G>C (p.Ala2909Pro) c.6322G>C (p.Ala2108Pro)
2	g.237336372C>T	CA351191764	COL6A3	c.1373G>A c.8110G>A (p.Ala2704Thr) c.855G>A n.995G>A c.8728G>A (p.Ala2910Thr) c.6904G>A (p.Ala2302Thr) c.6907G>A (p.Ala2303Thr) n.5170G>A c.8128G>A (p.Ala2710Thr) c.7507G>A (p.Ala2503Thr) c.8227G>A (p.Ala2743Thr) c.8725G>A (p.Ala2909Thr) c.6322G>A (p.Ala2108Thr)
2	g.237336373A>C	CA431702173	COL6A3	c.1372T>G c.8109T>G (p.Ala2703=) c.854T>G n.994T>G c.8727T>G (p.Ala2909=) c.6903T>G (p.Ala2301=) c.6906T>G (p.Ala2302=) n.5169T>G c.8127T>G (p.Ala2709=) c.7506T>G (p.Ala2502=) c.8226T>G (p.Ala2742=) c.8724T>G (p.Ala2908=) c.6321T>G (p.Ala2107=)
2	g.237336373A>G	CA431702177	COL6A3	c.1372T>C c.8109T>C (p.Ala2703=) c.854T>C n.994T>C c.8727T>C (p.Ala2909=) c.6903T>C (p.Ala2301=) c.6906T>C (p.Ala2302=) n.5169T>C c.8127T>C (p.Ala2709=) c.7506T>C (p.Ala2502=) c.8226T>C (p.Ala2742=) c.8724T>C (p.Ala2908=) c.6321T>C (p.Ala2107=)
2	g.237336373A>T	CA431702175	COL6A3	c.1372T>A c.8109T>A (p.Ala2703=) c.854T>A n.994T>A c.8727T>A (p.Ala2909=) c.6903T>A (p.Ala2301=) c.6906T>A (p.Ala2302=) n.5169T>A c.8127T>A (p.Ala2709=) c.7506T>A (p.Ala2502=) c.8226T>A (p.Ala2742=) c.8724T>A (p.Ala2908=) c.6321T>A (p.Ala2107=)
2	g.237336374G>A	CA351191765	COL6A3	c.1371C>T c.8108C>T (p.Ala2703Val) c.853C>T n.993C>T c.8726C>T (p.Ala2909Val) c.6902C>T (p.Ala2301Val) c.6905C>T (p.Ala2302Val) n.5168C>T c.8126C>T (p.Ala2709Val) c.7505C>T (p.Ala2502Val) c.8225C>T (p.Ala2742Val) c.8723C>T (p.Ala2908Val) c.6320C>T (p.Ala2107Val)	dbSNP gnomAD v2 gnomAD v4
2	g.237336374G>C	CA351191766	COL6A3	c.1371C>G c.8108C>G (p.Ala2703Gly) c.853C>G n.993C>G c.8726C>G (p.Ala2909Gly) c.6902C>G (p.Ala2301Gly) c.6905C>G (p.Ala2302Gly) n.5168C>G c.8126C>G (p.Ala2709Gly) c.7505C>G (p.Ala2502Gly) c.8225C>G (p.Ala2742Gly) c.8723C>G (p.Ala2908Gly) c.6320C>G (p.Ala2107Gly)
2	g.237336374G=	CA1337607165	COL6A3	c.1371C= c.8108C= (p.Ala2703=) c.853C= n.993C= c.8726C= (p.Ala2909=) c.6902C= (p.Ala2301=) c.6905C= (p.Ala2302=) n.5168C= c.8126C= (p.Ala2709=) c.7505C= (p.Ala2502=) c.8225C= (p.Ala2742=) c.8723C= (p.Ala2908=) c.6320C= (p.Ala2107=)
2	g.237336374G>T	CA351191767	COL6A3	c.1371C>A c.8108C>A (p.Ala2703Asp) c.853C>A n.993C>A c.8726C>A (p.Ala2909Asp) c.6902C>A (p.Ala2301Asp) c.6905C>A (p.Ala2302Asp) n.5168C>A c.8126C>A (p.Ala2709Asp) c.7505C>A (p.Ala2502Asp) c.8225C>A (p.Ala2742Asp) c.8723C>A (p.Ala2908Asp) c.6320C>A (p.Ala2107Asp)
2	g.237336375C>A	CA2187458	COL6A3	c.1370G>T c.8107G>T (p.Ala2703Ser) c.852G>T n.992G>T c.8725G>T (p.Ala2909Ser) c.6901G>T (p.Ala2301Ser) c.6904G>T (p.Ala2302Ser) n.5167G>T c.8125G>T (p.Ala2709Ser) c.7504G>T (p.Ala2502Ser) c.8224G>T (p.Ala2742Ser) c.8722G>T (p.Ala2908Ser) c.6319G>T (p.Ala2107Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336375C=	CA1337607166	COL6A3	c.1370G= c.8107G= (p.Ala2703=) c.852G= n.992G= c.8725G= (p.Ala2909=) c.6901G= (p.Ala2301=) c.6904G= (p.Ala2302=) n.5167G= c.8125G= (p.Ala2709=) c.7504G= (p.Ala2502=) c.8224G= (p.Ala2742=) c.8722G= (p.Ala2908=) c.6319G= (p.Ala2107=)
2	g.237336375C>G	CA67830635	COL6A3	c.1370G>C c.8107G>C (p.Ala2703Pro) c.852G>C n.992G>C c.8725G>C (p.Ala2909Pro) c.6901G>C (p.Ala2301Pro) c.6904G>C (p.Ala2302Pro) n.5167G>C c.8125G>C (p.Ala2709Pro) c.7504G>C (p.Ala2502Pro) c.8224G>C (p.Ala2742Pro) c.8722G>C (p.Ala2908Pro) c.6319G>C (p.Ala2107Pro)	dbSNP
2	g.237336375C>T	CA2187457	COL6A3	c.1370G>A c.8107G>A (p.Ala2703Thr) c.852G>A n.992G>A c.8725G>A (p.Ala2909Thr) c.6901G>A (p.Ala2301Thr) c.6904G>A (p.Ala2302Thr) n.5167G>A c.8125G>A (p.Ala2709Thr) c.7504G>A (p.Ala2502Thr) c.8224G>A (p.Ala2742Thr) c.8722G>A (p.Ala2908Thr) c.6319G>A (p.Ala2107Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336376G>A	CA245534	COL6A3	c.1369C>T c.8106C>T (p.Ala2702=) c.851C>T n.991C>T c.8724C>T (p.Ala2908=) c.6900C>T (p.Ala2300=) c.6903C>T (p.Ala2301=) n.5166C>T c.8124C>T (p.Ala2708=) c.7503C>T (p.Ala2501=) c.8223C>T (p.Ala2741=) c.8721C>T (p.Ala2907=) c.6318C>T (p.Ala2106=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336376G>C	CA431702202	COL6A3	c.1369C>G c.8106C>G (p.Ala2702=) c.851C>G n.991C>G c.8724C>G (p.Ala2908=) c.6900C>G (p.Ala2300=) c.6903C>G (p.Ala2301=) n.5166C>G c.8124C>G (p.Ala2708=) c.7503C>G (p.Ala2501=) c.8223C>G (p.Ala2741=) c.8721C>G (p.Ala2907=) c.6318C>G (p.Ala2106=)
2	g.237336376G=	CA1337607167	COL6A3	c.1369C= c.8106C= (p.Ala2702=) c.851C= n.991C= c.8724C= (p.Ala2908=) c.6900C= (p.Ala2300=) c.6903C= (p.Ala2301=) n.5166C= c.8124C= (p.Ala2708=) c.7503C= (p.Ala2501=) c.8223C= (p.Ala2741=) c.8721C= (p.Ala2907=) c.6318C= (p.Ala2106=)
2	g.237336376G>T	CA431702205	COL6A3	c.1369C>A c.8106C>A (p.Ala2702=) c.851C>A n.991C>A c.8724C>A (p.Ala2908=) c.6900C>A (p.Ala2300=) c.6903C>A (p.Ala2301=) n.5166C>A c.8124C>A (p.Ala2708=) c.7503C>A (p.Ala2501=) c.8223C>A (p.Ala2741=) c.8721C>A (p.Ala2907=) c.6318C>A (p.Ala2106=)
2	g.237336377G>A	CA351191768	COL6A3	c.1368C>T c.8105C>T (p.Ala2702Val) c.850C>T n.990C>T c.8723C>T (p.Ala2908Val) c.6899C>T (p.Ala2300Val) c.6902C>T (p.Ala2301Val) n.5165C>T c.8123C>T (p.Ala2708Val) c.7502C>T (p.Ala2501Val) c.8222C>T (p.Ala2741Val) c.8720C>T (p.Ala2907Val) c.6317C>T (p.Ala2106Val)
2	g.237336377G>C	CA351191769	COL6A3	c.1368C>G c.8105C>G (p.Ala2702Gly) c.850C>G n.990C>G c.8723C>G (p.Ala2908Gly) c.6899C>G (p.Ala2300Gly) c.6902C>G (p.Ala2301Gly) n.5165C>G c.8123C>G (p.Ala2708Gly) c.7502C>G (p.Ala2501Gly) c.8222C>G (p.Ala2741Gly) c.8720C>G (p.Ala2907Gly) c.6317C>G (p.Ala2106Gly)	ClinVar
2	g.237336377G=	CA1337607168	COL6A3	c.1368C= c.8105C= (p.Ala2702=) c.850C= n.990C= c.8723C= (p.Ala2908=) c.6899C= (p.Ala2300=) c.6902C= (p.Ala2301=) n.5165C= c.8123C= (p.Ala2708=) c.7502C= (p.Ala2501=) c.8222C= (p.Ala2741=) c.8720C= (p.Ala2907=) c.6317C= (p.Ala2106=)
2	g.237336377G>T	CA351191770	COL6A3	c.1368C>A c.8105C>A (p.Ala2702Asp) c.850C>A n.990C>A c.8723C>A (p.Ala2908Asp) c.6899C>A (p.Ala2300Asp) c.6902C>A (p.Ala2301Asp) n.5165C>A c.8123C>A (p.Ala2708Asp) c.7502C>A (p.Ala2501Asp) c.8222C>A (p.Ala2741Asp) c.8720C>A (p.Ala2907Asp) c.6317C>A (p.Ala2106Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.237336378C>A	CA351191771	COL6A3	c.1367G>T c.8104G>T (p.Ala2702Ser) c.849G>T n.989G>T c.8722G>T (p.Ala2908Ser) c.6898G>T (p.Ala2300Ser) c.6901G>T (p.Ala2301Ser) n.5164G>T c.8122G>T (p.Ala2708Ser) c.7501G>T (p.Ala2501Ser) c.8221G>T (p.Ala2741Ser) c.8719G>T (p.Ala2907Ser) c.6316G>T (p.Ala2106Ser)
2	g.237336378C>G	CA351191773	COL6A3	c.1367G>C c.8104G>C (p.Ala2702Pro) c.849G>C n.989G>C c.8722G>C (p.Ala2908Pro) c.6898G>C (p.Ala2300Pro) c.6901G>C (p.Ala2301Pro) n.5164G>C c.8122G>C (p.Ala2708Pro) c.7501G>C (p.Ala2501Pro) c.8221G>C (p.Ala2741Pro) c.8719G>C (p.Ala2907Pro) c.6316G>C (p.Ala2106Pro)
2	g.237336378C>T	CA351191772	COL6A3	c.1367G>A c.8104G>A (p.Ala2702Thr) c.849G>A n.989G>A c.8722G>A (p.Ala2908Thr) c.6898G>A (p.Ala2300Thr) c.6901G>A (p.Ala2301Thr) n.5164G>A c.8122G>A (p.Ala2708Thr) c.7501G>A (p.Ala2501Thr) c.8221G>A (p.Ala2741Thr) c.8719G>A (p.Ala2907Thr) c.6316G>A (p.Ala2106Thr)
2	g.237336379T>A	CA431702220	COL6A3	c.1366A>T c.8103A>T (p.Pro2701=) c.848A>T n.988A>T c.8721A>T (p.Pro2907=) c.6897A>T (p.Pro2299=) c.6900A>T (p.Pro2300=) n.5163A>T c.8121A>T (p.Pro2707=) c.7500A>T (p.Pro2500=) c.8220A>T (p.Pro2740=) c.8718A>T (p.Pro2906=) c.6315A>T (p.Pro2105=)
2	g.237336379T>C	CA431702221	COL6A3	c.1366A>G c.8103A>G (p.Pro2701=) c.848A>G n.988A>G c.8721A>G (p.Pro2907=) c.6897A>G (p.Pro2299=) c.6900A>G (p.Pro2300=) n.5163A>G c.8121A>G (p.Pro2707=) c.7500A>G (p.Pro2500=) c.8220A>G (p.Pro2740=) c.8718A>G (p.Pro2906=) c.6315A>G (p.Pro2105=)
2	g.237336379T>G	CA431702224	COL6A3	c.1366A>C c.8103A>C (p.Pro2701=) c.848A>C n.988A>C c.8721A>C (p.Pro2907=) c.6897A>C (p.Pro2299=) c.6900A>C (p.Pro2300=) n.5163A>C c.8121A>C (p.Pro2707=) c.7500A>C (p.Pro2500=) c.8220A>C (p.Pro2740=) c.8718A>C (p.Pro2906=) c.6315A>C (p.Pro2105=)
2	g.237336380G>A	CA67830636	COL6A3	c.1365C>T c.8102C>T (p.Pro2701Leu) c.847C>T n.987C>T c.8720C>T (p.Pro2907Leu) c.6896C>T (p.Pro2299Leu) c.6899C>T (p.Pro2300Leu) n.5162C>T c.8120C>T (p.Pro2707Leu) c.7499C>T (p.Pro2500Leu) c.8219C>T (p.Pro2740Leu) c.8717C>T (p.Pro2906Leu) c.6314C>T (p.Pro2105Leu)	dbSNP gnomAD v3 gnomAD v4
2	g.237336380G>C	CA351191774	COL6A3	c.1365C>G c.8102C>G (p.Pro2701Arg) c.847C>G n.987C>G c.8720C>G (p.Pro2907Arg) c.6896C>G (p.Pro2299Arg) c.6899C>G (p.Pro2300Arg) n.5162C>G c.8120C>G (p.Pro2707Arg) c.7499C>G (p.Pro2500Arg) c.8219C>G (p.Pro2740Arg) c.8717C>G (p.Pro2906Arg) c.6314C>G (p.Pro2105Arg)
2	g.237336380G=	CA1337607169	COL6A3	c.1365C= c.8102C= (p.Pro2701=) c.847C= n.987C= c.8720C= (p.Pro2907=) c.6896C= (p.Pro2299=) c.6899C= (p.Pro2300=) n.5162C= c.8120C= (p.Pro2707=) c.7499C= (p.Pro2500=) c.8219C= (p.Pro2740=) c.8717C= (p.Pro2906=) c.6314C= (p.Pro2105=)
2	g.237336380G>T	CA351191775	COL6A3	c.1365C>A c.8102C>A (p.Pro2701Gln) c.847C>A n.987C>A c.8720C>A (p.Pro2907Gln) c.6896C>A (p.Pro2299Gln) c.6899C>A (p.Pro2300Gln) n.5162C>A c.8120C>A (p.Pro2707Gln) c.7499C>A (p.Pro2500Gln) c.8219C>A (p.Pro2740Gln) c.8717C>A (p.Pro2906Gln) c.6314C>A (p.Pro2105Gln)
2	g.237336381G>A	CA351191776	COL6A3	c.1364C>T c.8101C>T (p.Pro2701Ser) c.846C>T n.986C>T c.8719C>T (p.Pro2907Ser) c.6895C>T (p.Pro2299Ser) c.6898C>T (p.Pro2300Ser) n.5161C>T c.8119C>T (p.Pro2707Ser) c.7498C>T (p.Pro2500Ser) c.8218C>T (p.Pro2740Ser) c.8716C>T (p.Pro2906Ser) c.6313C>T (p.Pro2105Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.237336381G>C	CA351191777	COL6A3	c.1364C>G c.8101C>G (p.Pro2701Ala) c.846C>G n.986C>G c.8719C>G (p.Pro2907Ala) c.6895C>G (p.Pro2299Ala) c.6898C>G (p.Pro2300Ala) n.5161C>G c.8119C>G (p.Pro2707Ala) c.7498C>G (p.Pro2500Ala) c.8218C>G (p.Pro2740Ala) c.8716C>G (p.Pro2906Ala) c.6313C>G (p.Pro2105Ala)
2	g.237336381G=	CA1337607170	COL6A3	c.1364C= c.8101C= (p.Pro2701=) c.846C= n.986C= c.8719C= (p.Pro2907=) c.6895C= (p.Pro2299=) c.6898C= (p.Pro2300=) n.5161C= c.8119C= (p.Pro2707=) c.7498C= (p.Pro2500=) c.8218C= (p.Pro2740=) c.8716C= (p.Pro2906=) c.6313C= (p.Pro2105=)
2	g.237336381G>T	CA351191778	COL6A3	c.1364C>A c.8101C>A (p.Pro2701Thr) c.846C>A n.986C>A c.8719C>A (p.Pro2907Thr) c.6895C>A (p.Pro2299Thr) c.6898C>A (p.Pro2300Thr) n.5161C>A c.8119C>A (p.Pro2707Thr) c.7498C>A (p.Pro2500Thr) c.8218C>A (p.Pro2740Thr) c.8716C>A (p.Pro2906Thr) c.6313C>A (p.Pro2105Thr)
2	g.237336382C>A	CA351191780	COL6A3	c.1363G>T c.8100G>T (p.Lys2700Asn) c.845G>T n.985G>T c.8718G>T (p.Lys2906Asn) c.6894G>T (p.Lys2298Asn) c.6897G>T (p.Lys2299Asn) n.5160G>T c.8118G>T (p.Lys2706Asn) c.7497G>T (p.Lys2499Asn) c.8217G>T (p.Lys2739Asn) c.8715G>T (p.Lys2905Asn) c.6312G>T (p.Lys2104Asn)
2	g.237336382C>G	CA351191779	COL6A3	c.1363G>C c.8100G>C (p.Lys2700Asn) c.845G>C n.985G>C c.8718G>C (p.Lys2906Asn) c.6894G>C (p.Lys2298Asn) c.6897G>C (p.Lys2299Asn) n.5160G>C c.8118G>C (p.Lys2706Asn) c.7497G>C (p.Lys2499Asn) c.8217G>C (p.Lys2739Asn) c.8715G>C (p.Lys2905Asn) c.6312G>C (p.Lys2104Asn)
2	g.237336382C>T	CA431702237	COL6A3	c.1363G>A c.8100G>A (p.Lys2700=) c.845G>A n.985G>A c.8718G>A (p.Lys2906=) c.6894G>A (p.Lys2298=) c.6897G>A (p.Lys2299=) n.5160G>A c.8118G>A (p.Lys2706=) c.7497G>A (p.Lys2499=) c.8217G>A (p.Lys2739=) c.8715G>A (p.Lys2905=) c.6312G>A (p.Lys2104=)
2	g.237336383T>A	CA351191781	COL6A3	c.1362A>T c.8099A>T (p.Lys2700Met) c.844A>T n.984A>T c.8717A>T (p.Lys2906Met) c.6893A>T (p.Lys2298Met) c.6896A>T (p.Lys2299Met) n.5159A>T c.8117A>T (p.Lys2706Met) c.7496A>T (p.Lys2499Met) c.8216A>T (p.Lys2739Met) c.8714A>T (p.Lys2905Met) c.6311A>T (p.Lys2104Met)
2	g.237336383T>C	CA351191782	COL6A3	c.1362A>G c.8099A>G (p.Lys2700Arg) c.844A>G n.984A>G c.8717A>G (p.Lys2906Arg) c.6893A>G (p.Lys2298Arg) c.6896A>G (p.Lys2299Arg) n.5159A>G c.8117A>G (p.Lys2706Arg) c.7496A>G (p.Lys2499Arg) c.8216A>G (p.Lys2739Arg) c.8714A>G (p.Lys2905Arg) c.6311A>G (p.Lys2104Arg)
2	g.237336383T>G	CA351191783	COL6A3	c.1362A>C c.8099A>C (p.Lys2700Thr) c.844A>C n.984A>C c.8717A>C (p.Lys2906Thr) c.6893A>C (p.Lys2298Thr) c.6896A>C (p.Lys2299Thr) n.5159A>C c.8117A>C (p.Lys2706Thr) c.7496A>C (p.Lys2499Thr) c.8216A>C (p.Lys2739Thr) c.8714A>C (p.Lys2905Thr) c.6311A>C (p.Lys2104Thr)
2	g.237336384T>A	CA351191784	COL6A3	c.1361A>T c.8098A>T (p.Lys2700Ter) c.843A>T n.983A>T c.8716A>T (p.Lys2906Ter) c.6892A>T (p.Lys2298Ter) c.6895A>T (p.Lys2299Ter) n.5158A>T c.8116A>T (p.Lys2706Ter) c.7495A>T (p.Lys2499Ter) c.8215A>T (p.Lys2739Ter) c.8713A>T (p.Lys2905Ter) c.6310A>T (p.Lys2104Ter)
2	g.237336384T>C	CA351191785	COL6A3	c.1361A>G c.8098A>G (p.Lys2700Glu) c.843A>G n.983A>G c.8716A>G (p.Lys2906Glu) c.6892A>G (p.Lys2298Glu) c.6895A>G (p.Lys2299Glu) n.5158A>G c.8116A>G (p.Lys2706Glu) c.7495A>G (p.Lys2499Glu) c.8215A>G (p.Lys2739Glu) c.8713A>G (p.Lys2905Glu) c.6310A>G (p.Lys2104Glu)
2	g.237336384T>G	CA351191786	COL6A3	c.1361A>C c.8098A>C (p.Lys2700Gln) c.843A>C n.983A>C c.8716A>C (p.Lys2906Gln) c.6892A>C (p.Lys2298Gln) c.6895A>C (p.Lys2299Gln) n.5158A>C c.8116A>C (p.Lys2706Gln) c.7495A>C (p.Lys2499Gln) c.8215A>C (p.Lys2739Gln) c.8713A>C (p.Lys2905Gln) c.6310A>C (p.Lys2104Gln)
2	g.237336385C>A	CA431702251	COL6A3	c.1360G>T c.8097G>T (p.Val2699=) c.842G>T n.982G>T c.8715G>T (p.Val2905=) c.6891G>T (p.Val2297=) c.6894G>T (p.Val2298=) n.5157G>T c.8115G>T (p.Val2705=) c.7494G>T (p.Val2498=) c.8214G>T (p.Val2738=) c.8712G>T (p.Val2904=) c.6309G>T (p.Val2103=)
2	g.237336385C=	CA1337607171	COL6A3	c.1360G= c.8097G= (p.Val2699=) c.842G= n.982G= c.8715G= (p.Val2905=) c.6891G= (p.Val2297=) c.6894G= (p.Val2298=) n.5157G= c.8115G= (p.Val2705=) c.7494G= (p.Val2498=) c.8214G= (p.Val2738=) c.8712G= (p.Val2904=) c.6309G= (p.Val2103=)
2	g.237336385C>G	CA431702257	COL6A3	c.1360G>C c.8097G>C (p.Val2699=) c.842G>C n.982G>C c.8715G>C (p.Val2905=) c.6891G>C (p.Val2297=) c.6894G>C (p.Val2298=) n.5157G>C c.8115G>C (p.Val2705=) c.7494G>C (p.Val2498=) c.8214G>C (p.Val2738=) c.8712G>C (p.Val2904=) c.6309G>C (p.Val2103=)
2	g.237336385C>T	CA431702254	COL6A3	c.1360G>A c.8097G>A (p.Val2699=) c.842G>A n.982G>A c.8715G>A (p.Val2905=) c.6891G>A (p.Val2297=) c.6894G>A (p.Val2298=) n.5157G>A c.8115G>A (p.Val2705=) c.7494G>A (p.Val2498=) c.8214G>A (p.Val2738=) c.8712G>A (p.Val2904=) c.6309G>A (p.Val2103=)	dbSNP gnomAD v2 gnomAD v4
2	g.237336387_237336388del	CA2701805778	COL6A3	c.1359_1360del c.8096_8097del (p.Val2699GlufsTer26) c.841_842del n.981_982del c.8714_8715del (p.Val2905GlufsTer26) c.6890_6891del (p.Val2297GlufsTer26) c.6893_6894del (p.Val2298GlufsTer26) n.5156_5157del c.8114_8115del (p.Val2705GlufsTer26) c.7493_7494del (p.Val2498GlufsTer26) c.8213_8214del (p.Val2738GlufsTer26) c.8711_8712del (p.Val2904GlufsTer26) c.6308_6309del (p.Val2103GlufsTer26)	dbSNP
2	g.237336386A=	CA1337607172	COL6A3	c.1359T= c.8096T= (p.Val2699=) c.841T= n.981T= c.8714T= (p.Val2905=) c.6890T= (p.Val2297=) c.6893T= (p.Val2298=) n.5156T= c.8114T= (p.Val2705=) c.7493T= (p.Val2498=) c.8213T= (p.Val2738=) c.8711T= (p.Val2904=) c.6308T= (p.Val2103=)
2	g.237336386A>C	CA351191787	COL6A3	c.1359T>G c.8096T>G (p.Val2699Gly) c.841T>G n.981T>G c.8714T>G (p.Val2905Gly) c.6890T>G (p.Val2297Gly) c.6893T>G (p.Val2298Gly) n.5156T>G c.8114T>G (p.Val2705Gly) c.7493T>G (p.Val2498Gly) c.8213T>G (p.Val2738Gly) c.8711T>G (p.Val2904Gly) c.6308T>G (p.Val2103Gly)
2	g.237336386A>G	CA351191789	COL6A3	c.1359T>C c.8096T>C (p.Val2699Ala) c.841T>C n.981T>C c.8714T>C (p.Val2905Ala) c.6890T>C (p.Val2297Ala) c.6893T>C (p.Val2298Ala) n.5156T>C c.8114T>C (p.Val2705Ala) c.7493T>C (p.Val2498Ala) c.8213T>C (p.Val2738Ala) c.8711T>C (p.Val2904Ala) c.6308T>C (p.Val2103Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336386A>T	CA351191788	COL6A3	c.1359T>A c.8096T>A (p.Val2699Glu) c.841T>A n.981T>A c.8714T>A (p.Val2905Glu) c.6890T>A (p.Val2297Glu) c.6893T>A (p.Val2298Glu) n.5156T>A c.8114T>A (p.Val2705Glu) c.7493T>A (p.Val2498Glu) c.8213T>A (p.Val2738Glu) c.8711T>A (p.Val2904Glu) c.6308T>A (p.Val2103Glu)
2	g.237336387C>A	CA351191790	COL6A3	c.1358G>T c.8095G>T (p.Val2699Leu) c.840G>T n.980G>T c.8713G>T (p.Val2905Leu) c.6889G>T (p.Val2297Leu) c.6892G>T (p.Val2298Leu) n.5155G>T c.8113G>T (p.Val2705Leu) c.7492G>T (p.Val2498Leu) c.8212G>T (p.Val2738Leu) c.8710G>T (p.Val2904Leu) c.6307G>T (p.Val2103Leu)	gnomAD v4
2	g.237336387C=	CA1337607173	COL6A3	c.1358G= c.8095G= (p.Val2699=) c.840G= n.980G= c.8713G= (p.Val2905=) c.6889G= (p.Val2297=) c.6892G= (p.Val2298=) n.5155G= c.8113G= (p.Val2705=) c.7492G= (p.Val2498=) c.8212G= (p.Val2738=) c.8710G= (p.Val2904=) c.6307G= (p.Val2103=)
2	g.237336387C>G	CA351191791	COL6A3	c.1358G>C c.8095G>C (p.Val2699Leu) c.840G>C n.980G>C c.8713G>C (p.Val2905Leu) c.6889G>C (p.Val2297Leu) c.6892G>C (p.Val2298Leu) n.5155G>C c.8113G>C (p.Val2705Leu) c.7492G>C (p.Val2498Leu) c.8212G>C (p.Val2738Leu) c.8710G>C (p.Val2904Leu) c.6307G>C (p.Val2103Leu)	dbSNP gnomAD v4
2	g.237336387C>T	CA351191792	COL6A3	c.1358G>A c.8095G>A (p.Val2699Met) c.840G>A n.980G>A c.8713G>A (p.Val2905Met) c.6889G>A (p.Val2297Met) c.6892G>A (p.Val2298Met) n.5155G>A c.8113G>A (p.Val2705Met) c.7492G>A (p.Val2498Met) c.8212G>A (p.Val2738Met) c.8710G>A (p.Val2904Met) c.6307G>A (p.Val2103Met)
2	g.237336388A>C	CA431702273	COL6A3	c.1357T>G c.8094T>G (p.Ser2698=) c.839T>G n.979T>G c.8712T>G (p.Ser2904=) c.6888T>G (p.Ser2296=) c.6891T>G (p.Ser2297=) n.5154T>G c.8112T>G (p.Ser2704=) c.7491T>G (p.Ser2497=) c.8211T>G (p.Ser2737=) c.8709T>G (p.Ser2903=) c.6306T>G (p.Ser2102=)
2	g.237336388A>G	CA431702269	COL6A3	c.1357T>C c.8094T>C (p.Ser2698=) c.839T>C n.979T>C c.8712T>C (p.Ser2904=) c.6888T>C (p.Ser2296=) c.6891T>C (p.Ser2297=) n.5154T>C c.8112T>C (p.Ser2704=) c.7491T>C (p.Ser2497=) c.8211T>C (p.Ser2737=) c.8709T>C (p.Ser2903=) c.6306T>C (p.Ser2102=)
2	g.237336388A>T	CA431702271	COL6A3	c.1357T>A c.8094T>A (p.Ser2698=) c.839T>A n.979T>A c.8712T>A (p.Ser2904=) c.6888T>A (p.Ser2296=) c.6891T>A (p.Ser2297=) n.5154T>A c.8112T>A (p.Ser2704=) c.7491T>A (p.Ser2497=) c.8211T>A (p.Ser2737=) c.8709T>A (p.Ser2903=) c.6306T>A (p.Ser2102=)
2	g.237336389G>A	CA2187459	COL6A3	c.1356C>T c.8093C>T (p.Ser2698Phe) c.838C>T n.978C>T c.8711C>T (p.Ser2904Phe) c.6887C>T (p.Ser2296Phe) c.6890C>T (p.Ser2297Phe) n.5153C>T c.8111C>T (p.Ser2704Phe) c.7490C>T (p.Ser2497Phe) c.8210C>T (p.Ser2737Phe) c.8708C>T (p.Ser2903Phe) c.6305C>T (p.Ser2102Phe)	dbSNP ExAC gnomAD v4
2	g.237336389G>C	CA351191793	COL6A3	c.1356C>G c.8093C>G (p.Ser2698Cys) c.838C>G n.978C>G c.8711C>G (p.Ser2904Cys) c.6887C>G (p.Ser2296Cys) c.6890C>G (p.Ser2297Cys) n.5153C>G c.8111C>G (p.Ser2704Cys) c.7490C>G (p.Ser2497Cys) c.8210C>G (p.Ser2737Cys) c.8708C>G (p.Ser2903Cys) c.6305C>G (p.Ser2102Cys)
2	g.237336389G=	CA1337607174	COL6A3	c.1356C= c.8093C= (p.Ser2698=) c.838C= n.978C= c.8711C= (p.Ser2904=) c.6887C= (p.Ser2296=) c.6890C= (p.Ser2297=) n.5153C= c.8111C= (p.Ser2704=) c.7490C= (p.Ser2497=) c.8210C= (p.Ser2737=) c.8708C= (p.Ser2903=) c.6305C= (p.Ser2102=)
2	g.237336389G>T	CA351191794	COL6A3	c.1356C>A c.8093C>A (p.Ser2698Tyr) c.838C>A n.978C>A c.8711C>A (p.Ser2904Tyr) c.6887C>A (p.Ser2296Tyr) c.6890C>A (p.Ser2297Tyr) n.5153C>A c.8111C>A (p.Ser2704Tyr) c.7490C>A (p.Ser2497Tyr) c.8210C>A (p.Ser2737Tyr) c.8708C>A (p.Ser2903Tyr) c.6305C>A (p.Ser2102Tyr)
2	g.237336390A>C	CA351191795	COL6A3	c.1355T>G c.8092T>G (p.Ser2698Ala) c.837T>G n.977T>G c.8710T>G (p.Ser2904Ala) c.6886T>G (p.Ser2296Ala) c.6889T>G (p.Ser2297Ala) n.5152T>G c.8110T>G (p.Ser2704Ala) c.7489T>G (p.Ser2497Ala) c.8209T>G (p.Ser2737Ala) c.8707T>G (p.Ser2903Ala) c.6304T>G (p.Ser2102Ala)
2	g.237336390A>G	CA351191796	COL6A3	c.1355T>C c.8092T>C (p.Ser2698Pro) c.837T>C n.977T>C c.8710T>C (p.Ser2904Pro) c.6886T>C (p.Ser2296Pro) c.6889T>C (p.Ser2297Pro) n.5152T>C c.8110T>C (p.Ser2704Pro) c.7489T>C (p.Ser2497Pro) c.8209T>C (p.Ser2737Pro) c.8707T>C (p.Ser2903Pro) c.6304T>C (p.Ser2102Pro)
2	g.237336390A>T	CA351191797	COL6A3	c.1355T>A c.8092T>A (p.Ser2698Thr) c.837T>A n.977T>A c.8710T>A (p.Ser2904Thr) c.6886T>A (p.Ser2296Thr) c.6889T>A (p.Ser2297Thr) n.5152T>A c.8110T>A (p.Ser2704Thr) c.7489T>A (p.Ser2497Thr) c.8209T>A (p.Ser2737Thr) c.8707T>A (p.Ser2903Thr) c.6304T>A (p.Ser2102Thr)
2	g.237336391T>A	CA431702288	COL6A3	c.1354A>T c.8091A>T (p.Pro2697=) c.836A>T n.976A>T c.8709A>T (p.Pro2903=) c.6885A>T (p.Pro2295=) c.6888A>T (p.Pro2296=) n.5151A>T c.8109A>T (p.Pro2703=) c.7488A>T (p.Pro2496=) c.8208A>T (p.Pro2736=) c.8706A>T (p.Pro2902=) c.6303A>T (p.Pro2101=)
2	g.237336391T>C	CA431702290	COL6A3	c.1354A>G c.8091A>G (p.Pro2697=) c.836A>G n.976A>G c.8709A>G (p.Pro2903=) c.6885A>G (p.Pro2295=) c.6888A>G (p.Pro2296=) n.5151A>G c.8109A>G (p.Pro2703=) c.7488A>G (p.Pro2496=) c.8208A>G (p.Pro2736=) c.8706A>G (p.Pro2902=) c.6303A>G (p.Pro2101=)	ClinVar dbSNP gnomAD v4
2	g.237336391T>G	CA2187460	COL6A3	c.1354A>C c.8091A>C (p.Pro2697=) c.836A>C n.976A>C c.8709A>C (p.Pro2903=) c.6885A>C (p.Pro2295=) c.6888A>C (p.Pro2296=) n.5151A>C c.8109A>C (p.Pro2703=) c.7488A>C (p.Pro2496=) c.8208A>C (p.Pro2736=) c.8706A>C (p.Pro2902=) c.6303A>C (p.Pro2101=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336391T=	CA1337607175	COL6A3	c.1354A= c.8091A= (p.Pro2697=) c.836A= n.976A= c.8709A= (p.Pro2903=) c.6885A= (p.Pro2295=) c.6888A= (p.Pro2296=) n.5151A= c.8109A= (p.Pro2703=) c.7488A= (p.Pro2496=) c.8208A= (p.Pro2736=) c.8706A= (p.Pro2902=) c.6303A= (p.Pro2101=)
2	g.237336392G>A	CA351191798	COL6A3	c.1353C>T c.8090C>T (p.Pro2697Leu) c.835C>T n.975C>T c.8708C>T (p.Pro2903Leu) c.6884C>T (p.Pro2295Leu) c.6887C>T (p.Pro2296Leu) n.5150C>T c.8108C>T (p.Pro2703Leu) c.7487C>T (p.Pro2496Leu) c.8207C>T (p.Pro2736Leu) c.8705C>T (p.Pro2902Leu) c.6302C>T (p.Pro2101Leu)
2	g.237336392G>C	CA351191800	COL6A3	c.1353C>G c.8090C>G (p.Pro2697Arg) c.835C>G n.975C>G c.8708C>G (p.Pro2903Arg) c.6884C>G (p.Pro2295Arg) c.6887C>G (p.Pro2296Arg) n.5150C>G c.8108C>G (p.Pro2703Arg) c.7487C>G (p.Pro2496Arg) c.8207C>G (p.Pro2736Arg) c.8705C>G (p.Pro2902Arg) c.6302C>G (p.Pro2101Arg)
2	g.237336392G=	CA1337607176	COL6A3	c.1353C= c.8090C= (p.Pro2697=) c.835C= n.975C= c.8708C= (p.Pro2903=) c.6884C= (p.Pro2295=) c.6887C= (p.Pro2296=) n.5150C= c.8108C= (p.Pro2703=) c.7487C= (p.Pro2496=) c.8207C= (p.Pro2736=) c.8705C= (p.Pro2902=) c.6302C= (p.Pro2101=)
2	g.237336392G>T	CA351191799	COL6A3	c.1353C>A c.8090C>A (p.Pro2697Gln) c.835C>A n.975C>A c.8708C>A (p.Pro2903Gln) c.6884C>A (p.Pro2295Gln) c.6887C>A (p.Pro2296Gln) n.5150C>A c.8108C>A (p.Pro2703Gln) c.7487C>A (p.Pro2496Gln) c.8207C>A (p.Pro2736Gln) c.8705C>A (p.Pro2902Gln) c.6302C>A (p.Pro2101Gln)	dbSNP gnomAD v3 gnomAD v4
2	g.237336393G>A	CA351191801	COL6A3	c.1352C>T c.8089C>T (p.Pro2697Ser) c.834C>T n.974C>T c.8707C>T (p.Pro2903Ser) c.6883C>T (p.Pro2295Ser) c.6886C>T (p.Pro2296Ser) n.5149C>T c.8107C>T (p.Pro2703Ser) c.7486C>T (p.Pro2496Ser) c.8206C>T (p.Pro2736Ser) c.8704C>T (p.Pro2902Ser) c.6301C>T (p.Pro2101Ser)	gnomAD v4
2	g.237336393G>C	CA351191803	COL6A3	c.1352C>G c.8089C>G (p.Pro2697Ala) c.834C>G n.974C>G c.8707C>G (p.Pro2903Ala) c.6883C>G (p.Pro2295Ala) c.6886C>G (p.Pro2296Ala) n.5149C>G c.8107C>G (p.Pro2703Ala) c.7486C>G (p.Pro2496Ala) c.8206C>G (p.Pro2736Ala) c.8704C>G (p.Pro2902Ala) c.6301C>G (p.Pro2101Ala)	dbSNP gnomAD v4
2	g.237336393G=	CA1337607177	COL6A3	c.1352C= c.8089C= (p.Pro2697=) c.834C= n.974C= c.8707C= (p.Pro2903=) c.6883C= (p.Pro2295=) c.6886C= (p.Pro2296=) n.5149C= c.8107C= (p.Pro2703=) c.7486C= (p.Pro2496=) c.8206C= (p.Pro2736=) c.8704C= (p.Pro2902=) c.6301C= (p.Pro2101=)
2	g.237336393G>T	CA351191802	COL6A3	c.1352C>A c.8089C>A (p.Pro2697Thr) c.834C>A n.974C>A c.8707C>A (p.Pro2903Thr) c.6883C>A (p.Pro2295Thr) c.6886C>A (p.Pro2296Thr) n.5149C>A c.8107C>A (p.Pro2703Thr) c.7486C>A (p.Pro2496Thr) c.8206C>A (p.Pro2736Thr) c.8704C>A (p.Pro2902Thr) c.6301C>A (p.Pro2101Thr)	COSMIC
2	g.237336394C>A	CA351191804	COL6A3	c.1351G>T c.8088G>T (p.Gln2696His) c.833G>T n.973G>T c.8706G>T (p.Gln2902His) c.6882G>T (p.Gln2294His) c.6885G>T (p.Gln2295His) n.5148G>T c.8106G>T (p.Gln2702His) c.7485G>T (p.Gln2495His) c.8205G>T (p.Gln2735His) c.8703G>T (p.Gln2901His) c.6300G>T (p.Gln2100His)
2	g.237336394C>G	CA351191805	COL6A3	c.1351G>C c.8088G>C (p.Gln2696His) c.833G>C n.973G>C c.8706G>C (p.Gln2902His) c.6882G>C (p.Gln2294His) c.6885G>C (p.Gln2295His) n.5148G>C c.8106G>C (p.Gln2702His) c.7485G>C (p.Gln2495His) c.8205G>C (p.Gln2735His) c.8703G>C (p.Gln2901His) c.6300G>C (p.Gln2100His)
2	g.237336394C>T	CA431702308	COL6A3	c.1351G>A c.8088G>A (p.Gln2696=) c.833G>A n.973G>A c.8706G>A (p.Gln2902=) c.6882G>A (p.Gln2294=) c.6885G>A (p.Gln2295=) n.5148G>A c.8106G>A (p.Gln2702=) c.7485G>A (p.Gln2495=) c.8205G>A (p.Gln2735=) c.8703G>A (p.Gln2901=) c.6300G>A (p.Gln2100=)
2	g.237336395T>A	CA351191806	COL6A3	c.1350A>T c.8087A>T (p.Gln2696Leu) c.832A>T n.972A>T c.8705A>T (p.Gln2902Leu) c.6881A>T (p.Gln2294Leu) c.6884A>T (p.Gln2295Leu) n.5147A>T c.8105A>T (p.Gln2702Leu) c.7484A>T (p.Gln2495Leu) c.8204A>T (p.Gln2735Leu) c.8702A>T (p.Gln2901Leu) c.6299A>T (p.Gln2100Leu)
2	g.237336395T>C	CA351191807	COL6A3	c.1350A>G c.8087A>G (p.Gln2696Arg) c.832A>G n.972A>G c.8705A>G (p.Gln2902Arg) c.6881A>G (p.Gln2294Arg) c.6884A>G (p.Gln2295Arg) n.5147A>G c.8105A>G (p.Gln2702Arg) c.7484A>G (p.Gln2495Arg) c.8204A>G (p.Gln2735Arg) c.8702A>G (p.Gln2901Arg) c.6299A>G (p.Gln2100Arg)
2	g.237336395T>G	CA351191808	COL6A3	c.1350A>C c.8087A>C (p.Gln2696Pro) c.832A>C n.972A>C c.8705A>C (p.Gln2902Pro) c.6881A>C (p.Gln2294Pro) c.6884A>C (p.Gln2295Pro) n.5147A>C c.8105A>C (p.Gln2702Pro) c.7484A>C (p.Gln2495Pro) c.8204A>C (p.Gln2735Pro) c.8702A>C (p.Gln2901Pro) c.6299A>C (p.Gln2100Pro)
2	g.237336396G>A	CA351191809	COL6A3	c.1349C>T c.8086C>T (p.Gln2696Ter) c.831C>T n.971C>T c.8704C>T (p.Gln2902Ter) c.6880C>T (p.Gln2294Ter) c.6883C>T (p.Gln2295Ter) n.5146C>T c.8104C>T (p.Gln2702Ter) c.7483C>T (p.Gln2495Ter) c.8203C>T (p.Gln2735Ter) c.8701C>T (p.Gln2901Ter) c.6298C>T (p.Gln2100Ter)
2	g.237336396G>C	CA351191810	COL6A3	c.1349C>G c.8086C>G (p.Gln2696Glu) c.831C>G n.971C>G c.8704C>G (p.Gln2902Glu) c.6880C>G (p.Gln2294Glu) c.6883C>G (p.Gln2295Glu) n.5146C>G c.8104C>G (p.Gln2702Glu) c.7483C>G (p.Gln2495Glu) c.8203C>G (p.Gln2735Glu) c.8701C>G (p.Gln2901Glu) c.6298C>G (p.Gln2100Glu)
2	g.237336396G>T	CA351191811	COL6A3	c.1349C>A c.8086C>A (p.Gln2696Lys) c.831C>A n.971C>A c.8704C>A (p.Gln2902Lys) c.6880C>A (p.Gln2294Lys) c.6883C>A (p.Gln2295Lys) n.5146C>A c.8104C>A (p.Gln2702Lys) c.7483C>A (p.Gln2495Lys) c.8203C>A (p.Gln2735Lys) c.8701C>A (p.Gln2901Lys) c.6298C>A (p.Gln2100Lys)
2	g.237336397A>C	CA351191812	COL6A3	c.1348T>G c.8085T>G (p.Asn2695Lys) c.830T>G n.970T>G c.8703T>G (p.Asn2901Lys) c.6879T>G (p.Asn2293Lys) c.6882T>G (p.Asn2294Lys) n.5145T>G c.8103T>G (p.Asn2701Lys) c.7482T>G (p.Asn2494Lys) c.8202T>G (p.Asn2734Lys) c.8700T>G (p.Asn2900Lys) c.6297T>G (p.Asn2099Lys)
2	g.237336397A>G	CA431702325	COL6A3	c.1348T>C c.8085T>C (p.Asn2695=) c.830T>C n.970T>C c.8703T>C (p.Asn2901=) c.6879T>C (p.Asn2293=) c.6882T>C (p.Asn2294=) n.5145T>C c.8103T>C (p.Asn2701=) c.7482T>C (p.Asn2494=) c.8202T>C (p.Asn2734=) c.8700T>C (p.Asn2900=) c.6297T>C (p.Asn2099=)
2	g.237336397A>T	CA351191813	COL6A3	c.1348T>A c.8085T>A (p.Asn2695Lys) c.830T>A n.970T>A c.8703T>A (p.Asn2901Lys) c.6879T>A (p.Asn2293Lys) c.6882T>A (p.Asn2294Lys) n.5145T>A c.8103T>A (p.Asn2701Lys) c.7482T>A (p.Asn2494Lys) c.8202T>A (p.Asn2734Lys) c.8700T>A (p.Asn2900Lys) c.6297T>A (p.Asn2099Lys)
2	g.237336398T>A	CA351191814	COL6A3	c.1347A>T c.8084A>T (p.Asn2695Ile) c.829A>T n.969A>T c.8702A>T (p.Asn2901Ile) c.6878A>T (p.Asn2293Ile) c.6881A>T (p.Asn2294Ile) n.5144A>T c.8102A>T (p.Asn2701Ile) c.7481A>T (p.Asn2494Ile) c.8201A>T (p.Asn2734Ile) c.8699A>T (p.Asn2900Ile) c.6296A>T (p.Asn2099Ile)
2	g.237336398T>C	CA351191815	COL6A3	c.1347A>G c.8084A>G (p.Asn2695Ser) c.829A>G n.969A>G c.8702A>G (p.Asn2901Ser) c.6878A>G (p.Asn2293Ser) c.6881A>G (p.Asn2294Ser) n.5144A>G c.8102A>G (p.Asn2701Ser) c.7481A>G (p.Asn2494Ser) c.8201A>G (p.Asn2734Ser) c.8699A>G (p.Asn2900Ser) c.6296A>G (p.Asn2099Ser)
2	g.237336398T>G	CA351191816	COL6A3	c.1347A>C c.8084A>C (p.Asn2695Thr) c.829A>C n.969A>C c.8702A>C (p.Asn2901Thr) c.6878A>C (p.Asn2293Thr) c.6881A>C (p.Asn2294Thr) n.5144A>C c.8102A>C (p.Asn2701Thr) c.7481A>C (p.Asn2494Thr) c.8201A>C (p.Asn2734Thr) c.8699A>C (p.Asn2900Thr) c.6296A>C (p.Asn2099Thr)
2	g.237336399T>A	CA351191819	COL6A3	c.1346A>T c.8083A>T (p.Asn2695Tyr) c.828A>T n.968A>T c.8701A>T (p.Asn2901Tyr) c.6877A>T (p.Asn2293Tyr) c.6880A>T (p.Asn2294Tyr) n.5143A>T c.8101A>T (p.Asn2701Tyr) c.7480A>T (p.Asn2494Tyr) c.8200A>T (p.Asn2734Tyr) c.8698A>T (p.Asn2900Tyr) c.6295A>T (p.Asn2099Tyr)
2	g.237336399T>C	CA351191818	COL6A3	c.1346A>G c.8083A>G (p.Asn2695Asp) c.828A>G n.968A>G c.8701A>G (p.Asn2901Asp) c.6877A>G (p.Asn2293Asp) c.6880A>G (p.Asn2294Asp) n.5143A>G c.8101A>G (p.Asn2701Asp) c.7480A>G (p.Asn2494Asp) c.8200A>G (p.Asn2734Asp) c.8698A>G (p.Asn2900Asp) c.6295A>G (p.Asn2099Asp)	gnomAD v4
2	g.237336399T>G	CA351191817	COL6A3	c.1346A>C c.8083A>C (p.Asn2695His) c.828A>C n.968A>C c.8701A>C (p.Asn2901His) c.6877A>C (p.Asn2293His) c.6880A>C (p.Asn2294His) n.5143A>C c.8101A>C (p.Asn2701His) c.7480A>C (p.Asn2494His) c.8200A>C (p.Asn2734His) c.8698A>C (p.Asn2900His) c.6295A>C (p.Asn2099His)
2	g.237336400T>A	CA431702342	COL6A3	c.1345A>T c.8082A>T (p.Ile2694=) c.827A>T n.967A>T c.8700A>T (p.Ile2900=) c.6876A>T (p.Ile2292=) c.6879A>T (p.Ile2293=) n.5142A>T c.8100A>T (p.Ile2700=) c.7479A>T (p.Ile2493=) c.8199A>T (p.Ile2733=) c.8697A>T (p.Ile2899=) c.6294A>T (p.Ile2098=)
2	g.237336400T>C	CA2187461	COL6A3	c.1345A>G c.8082A>G (p.Ile2694Met) c.827A>G n.967A>G c.8700A>G (p.Ile2900Met) c.6876A>G (p.Ile2292Met) c.6879A>G (p.Ile2293Met) n.5142A>G c.8100A>G (p.Ile2700Met) c.7479A>G (p.Ile2493Met) c.8199A>G (p.Ile2733Met) c.8697A>G (p.Ile2899Met) c.6294A>G (p.Ile2098Met)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336400T>G	CA431702340	COL6A3	c.1345A>C c.8082A>C (p.Ile2694=) c.827A>C n.967A>C c.8700A>C (p.Ile2900=) c.6876A>C (p.Ile2292=) c.6879A>C (p.Ile2293=) n.5142A>C c.8100A>C (p.Ile2700=) c.7479A>C (p.Ile2493=) c.8199A>C (p.Ile2733=) c.8697A>C (p.Ile2899=) c.6294A>C (p.Ile2098=)
2	g.237336400T=	CA1337607178	COL6A3	c.1345A= c.8082A= (p.Ile2694=) c.827A= n.967A= c.8700A= (p.Ile2900=) c.6876A= (p.Ile2292=) c.6879A= (p.Ile2293=) n.5142A= c.8100A= (p.Ile2700=) c.7479A= (p.Ile2493=) c.8199A= (p.Ile2733=) c.8697A= (p.Ile2899=) c.6294A= (p.Ile2098=)
2	g.237336401A>C	CA351191820	COL6A3	c.1344T>G c.8081T>G (p.Ile2694Arg) c.826T>G n.966T>G c.8699T>G (p.Ile2900Arg) c.6875T>G (p.Ile2292Arg) c.6878T>G (p.Ile2293Arg) n.5141T>G c.8099T>G (p.Ile2700Arg) c.7478T>G (p.Ile2493Arg) c.8198T>G (p.Ile2733Arg) c.8696T>G (p.Ile2899Arg) c.6293T>G (p.Ile2098Arg)
2	g.237336401A>G	CA351191821	COL6A3	c.1344T>C c.8081T>C (p.Ile2694Thr) c.826T>C n.966T>C c.8699T>C (p.Ile2900Thr) c.6875T>C (p.Ile2292Thr) c.6878T>C (p.Ile2293Thr) n.5141T>C c.8099T>C (p.Ile2700Thr) c.7478T>C (p.Ile2493Thr) c.8198T>C (p.Ile2733Thr) c.8696T>C (p.Ile2899Thr) c.6293T>C (p.Ile2098Thr)	gnomAD v4
2	g.237336401A>T	CA351191822	COL6A3	c.1344T>A c.8081T>A (p.Ile2694Lys) c.826T>A n.966T>A c.8699T>A (p.Ile2900Lys) c.6875T>A (p.Ile2292Lys) c.6878T>A (p.Ile2293Lys) n.5141T>A c.8099T>A (p.Ile2700Lys) c.7478T>A (p.Ile2493Lys) c.8198T>A (p.Ile2733Lys) c.8696T>A (p.Ile2899Lys) c.6293T>A (p.Ile2098Lys)
2	g.237336402T>A	CA351191823	COL6A3	c.1343A>T c.8080A>T (p.Ile2694Leu) c.825A>T n.965A>T c.8698A>T (p.Ile2900Leu) c.6874A>T (p.Ile2292Leu) c.6877A>T (p.Ile2293Leu) n.5140A>T c.8098A>T (p.Ile2700Leu) c.7477A>T (p.Ile2493Leu) c.8197A>T (p.Ile2733Leu) c.8695A>T (p.Ile2899Leu) c.6292A>T (p.Ile2098Leu)
2	g.237336402T>C	CA351191824	COL6A3	c.1343A>G c.8080A>G (p.Ile2694Val) c.825A>G n.965A>G c.8698A>G (p.Ile2900Val) c.6874A>G (p.Ile2292Val) c.6877A>G (p.Ile2293Val) n.5140A>G c.8098A>G (p.Ile2700Val) c.7477A>G (p.Ile2493Val) c.8197A>G (p.Ile2733Val) c.8695A>G (p.Ile2899Val) c.6292A>G (p.Ile2098Val)	ClinVar dbSNP
2	g.237336402T>G	CA351191825	COL6A3	c.1343A>C c.8080A>C (p.Ile2694Leu) c.825A>C n.965A>C c.8698A>C (p.Ile2900Leu) c.6874A>C (p.Ile2292Leu) c.6877A>C (p.Ile2293Leu) n.5140A>C c.8098A>C (p.Ile2700Leu) c.7477A>C (p.Ile2493Leu) c.8197A>C (p.Ile2733Leu) c.8695A>C (p.Ile2899Leu) c.6292A>C (p.Ile2098Leu)	ClinVar dbSNP gnomAD v4
2	g.237336402T=	CA1337607179	COL6A3	c.1343A= c.8080A= (p.Ile2694=) c.825A= n.965A= c.8698A= (p.Ile2900=) c.6874A= (p.Ile2292=) c.6877A= (p.Ile2293=) n.5140A= c.8098A= (p.Ile2700=) c.7477A= (p.Ile2493=) c.8197A= (p.Ile2733=) c.8695A= (p.Ile2899=) c.6292A= (p.Ile2098=)
2	g.237336403A=	CA1337607180	COL6A3	c.1342T= c.8079T= (p.Ile2693=) c.824T= n.964T= c.8697T= (p.Ile2899=) c.6873T= (p.Ile2291=) c.6876T= (p.Ile2292=) n.5139T= c.8097T= (p.Ile2699=) c.7476T= (p.Ile2492=) c.8196T= (p.Ile2732=) c.8694T= (p.Ile2898=) c.6291T= (p.Ile2097=)
2	g.237336403A>C	CA351191826	COL6A3	c.1342T>G c.8079T>G (p.Ile2693Met) c.824T>G n.964T>G c.8697T>G (p.Ile2899Met) c.6873T>G (p.Ile2291Met) c.6876T>G (p.Ile2292Met) n.5139T>G c.8097T>G (p.Ile2699Met) c.7476T>G (p.Ile2492Met) c.8196T>G (p.Ile2732Met) c.8694T>G (p.Ile2898Met) c.6291T>G (p.Ile2097Met)	dbSNP gnomAD v2 gnomAD v4
2	g.237336403A>G	CA431702357	COL6A3	c.1342T>C c.8079T>C (p.Ile2693=) c.824T>C n.964T>C c.8697T>C (p.Ile2899=) c.6873T>C (p.Ile2291=) c.6876T>C (p.Ile2292=) n.5139T>C c.8097T>C (p.Ile2699=) c.7476T>C (p.Ile2492=) c.8196T>C (p.Ile2732=) c.8694T>C (p.Ile2898=) c.6291T>C (p.Ile2097=)
2	g.237336403A>T	CA431702360	COL6A3	c.1342T>A c.8079T>A (p.Ile2693=) c.824T>A n.964T>A c.8697T>A (p.Ile2899=) c.6873T>A (p.Ile2291=) c.6876T>A (p.Ile2292=) n.5139T>A c.8097T>A (p.Ile2699=) c.7476T>A (p.Ile2492=) c.8196T>A (p.Ile2732=) c.8694T>A (p.Ile2898=) c.6291T>A (p.Ile2097=)	gnomAD v4
2	g.237336404A>C	CA351191827	COL6A3	c.1341T>G c.8078T>G (p.Ile2693Ser) c.823T>G n.963T>G c.8696T>G (p.Ile2899Ser) c.6872T>G (p.Ile2291Ser) c.6875T>G (p.Ile2292Ser) n.5138T>G c.8096T>G (p.Ile2699Ser) c.7475T>G (p.Ile2492Ser) c.8195T>G (p.Ile2732Ser) c.8693T>G (p.Ile2898Ser) c.6290T>G (p.Ile2097Ser)
2	g.237336404A>G	CA351191828	COL6A3	c.1341T>C c.8078T>C (p.Ile2693Thr) c.823T>C n.963T>C c.8696T>C (p.Ile2899Thr) c.6872T>C (p.Ile2291Thr) c.6875T>C (p.Ile2292Thr) n.5138T>C c.8096T>C (p.Ile2699Thr) c.7475T>C (p.Ile2492Thr) c.8195T>C (p.Ile2732Thr) c.8693T>C (p.Ile2898Thr) c.6290T>C (p.Ile2097Thr)
2	g.237336404A>T	CA351191829	COL6A3	c.1341T>A c.8078T>A (p.Ile2693Asn) c.823T>A n.963T>A c.8696T>A (p.Ile2899Asn) c.6872T>A (p.Ile2291Asn) c.6875T>A (p.Ile2292Asn) n.5138T>A c.8096T>A (p.Ile2699Asn) c.7475T>A (p.Ile2492Asn) c.8195T>A (p.Ile2732Asn) c.8693T>A (p.Ile2898Asn) c.6290T>A (p.Ile2097Asn)
2	g.237336405T>A	CA351191831	COL6A3	c.1340A>T c.8077A>T (p.Ile2693Phe) c.822A>T n.962A>T c.8695A>T (p.Ile2899Phe) c.6871A>T (p.Ile2291Phe) c.6874A>T (p.Ile2292Phe) n.5137A>T c.8095A>T (p.Ile2699Phe) c.7474A>T (p.Ile2492Phe) c.8194A>T (p.Ile2732Phe) c.8692A>T (p.Ile2898Phe) c.6289A>T (p.Ile2097Phe)
2	g.237336405T>C	CA2187462	COL6A3	c.1340A>G c.8077A>G (p.Ile2693Val) c.822A>G n.962A>G c.8695A>G (p.Ile2899Val) c.6871A>G (p.Ile2291Val) c.6874A>G (p.Ile2292Val) n.5137A>G c.8095A>G (p.Ile2699Val) c.7474A>G (p.Ile2492Val) c.8194A>G (p.Ile2732Val) c.8692A>G (p.Ile2898Val) c.6289A>G (p.Ile2097Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336405T>G	CA351191830	COL6A3	c.1340A>C c.8077A>C (p.Ile2693Leu) c.822A>C n.962A>C c.8695A>C (p.Ile2899Leu) c.6871A>C (p.Ile2291Leu) c.6874A>C (p.Ile2292Leu) n.5137A>C c.8095A>C (p.Ile2699Leu) c.7474A>C (p.Ile2492Leu) c.8194A>C (p.Ile2732Leu) c.8692A>C (p.Ile2898Leu) c.6289A>C (p.Ile2097Leu)
2	g.237336405T=	CA1337607181	COL6A3	c.1340A= c.8077A= (p.Ile2693=) c.822A= n.962A= c.8695A= (p.Ile2899=) c.6871A= (p.Ile2291=) c.6874A= (p.Ile2292=) n.5137A= c.8095A= (p.Ile2699=) c.7474A= (p.Ile2492=) c.8194A= (p.Ile2732=) c.8692A= (p.Ile2898=) c.6289A= (p.Ile2097=)
2	g.237336406A=	CA1337607182	COL6A3	c.1339T= c.8076T= (p.Thr2692=) c.821T= n.961T= c.8694T= (p.Thr2898=) c.6870T= (p.Thr2290=) c.6873T= (p.Thr2291=) n.5136T= c.8094T= (p.Thr2698=) c.7473T= (p.Thr2491=) c.8193T= (p.Thr2731=) c.8691T= (p.Thr2897=) c.6288T= (p.Thr2096=)
2	g.237336406A>C	CA431702373	COL6A3	c.1339T>G c.8076T>G (p.Thr2692=) c.821T>G n.961T>G c.8694T>G (p.Thr2898=) c.6870T>G (p.Thr2290=) c.6873T>G (p.Thr2291=) n.5136T>G c.8094T>G (p.Thr2698=) c.7473T>G (p.Thr2491=) c.8193T>G (p.Thr2731=) c.8691T>G (p.Thr2897=) c.6288T>G (p.Thr2096=)
2	g.237336406A>G	CA2187463	COL6A3	c.1339T>C c.8076T>C (p.Thr2692=) c.821T>C n.961T>C c.8694T>C (p.Thr2898=) c.6870T>C (p.Thr2290=) c.6873T>C (p.Thr2291=) n.5136T>C c.8094T>C (p.Thr2698=) c.7473T>C (p.Thr2491=) c.8193T>C (p.Thr2731=) c.8691T>C (p.Thr2897=) c.6288T>C (p.Thr2096=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336406A>T	CA431702375	COL6A3	c.1339T>A c.8076T>A (p.Thr2692=) c.821T>A n.961T>A c.8694T>A (p.Thr2898=) c.6870T>A (p.Thr2290=) c.6873T>A (p.Thr2291=) n.5136T>A c.8094T>A (p.Thr2698=) c.7473T>A (p.Thr2491=) c.8193T>A (p.Thr2731=) c.8691T>A (p.Thr2897=) c.6288T>A (p.Thr2096=)
2	g.237336407G>A	CA351191832	COL6A3	c.1338C>T c.8075C>T (p.Thr2692Ile) c.820C>T n.960C>T c.8693C>T (p.Thr2898Ile) c.6869C>T (p.Thr2290Ile) c.6872C>T (p.Thr2291Ile) n.5135C>T c.8093C>T (p.Thr2698Ile) c.7472C>T (p.Thr2491Ile) c.8192C>T (p.Thr2731Ile) c.8690C>T (p.Thr2897Ile) c.6287C>T (p.Thr2096Ile)
2	g.237336407G>C	CA351191833	COL6A3	c.1338C>G c.8075C>G (p.Thr2692Ser) c.820C>G n.960C>G c.8693C>G (p.Thr2898Ser) c.6869C>G (p.Thr2290Ser) c.6872C>G (p.Thr2291Ser) n.5135C>G c.8093C>G (p.Thr2698Ser) c.7472C>G (p.Thr2491Ser) c.8192C>G (p.Thr2731Ser) c.8690C>G (p.Thr2897Ser) c.6287C>G (p.Thr2096Ser)
2	g.237336407G>T	CA351191834	COL6A3	c.1338C>A c.8075C>A (p.Thr2692Asn) c.820C>A n.960C>A c.8693C>A (p.Thr2898Asn) c.6869C>A (p.Thr2290Asn) c.6872C>A (p.Thr2291Asn) n.5135C>A c.8093C>A (p.Thr2698Asn) c.7472C>A (p.Thr2491Asn) c.8192C>A (p.Thr2731Asn) c.8690C>A (p.Thr2897Asn) c.6287C>A (p.Thr2096Asn)
2	g.237336408T>A	CA351191835	COL6A3	c.1337A>T c.8074A>T (p.Thr2692Ser) c.819A>T n.959A>T c.8692A>T (p.Thr2898Ser) c.6868A>T (p.Thr2290Ser) c.6871A>T (p.Thr2291Ser) n.5134A>T c.8092A>T (p.Thr2698Ser) c.7471A>T (p.Thr2491Ser) c.8191A>T (p.Thr2731Ser) c.8689A>T (p.Thr2897Ser) c.6286A>T (p.Thr2096Ser)
2	g.237336408T>C	CA351191836	COL6A3	c.1337A>G c.8074A>G (p.Thr2692Ala) c.819A>G n.959A>G c.8692A>G (p.Thr2898Ala) c.6868A>G (p.Thr2290Ala) c.6871A>G (p.Thr2291Ala) n.5134A>G c.8092A>G (p.Thr2698Ala) c.7471A>G (p.Thr2491Ala) c.8191A>G (p.Thr2731Ala) c.8689A>G (p.Thr2897Ala) c.6286A>G (p.Thr2096Ala)
2	g.237336408T>G	CA351191837	COL6A3	c.1337A>C c.8074A>C (p.Thr2692Pro) c.819A>C n.959A>C c.8692A>C (p.Thr2898Pro) c.6868A>C (p.Thr2290Pro) c.6871A>C (p.Thr2291Pro) n.5134A>C c.8092A>C (p.Thr2698Pro) c.7471A>C (p.Thr2491Pro) c.8191A>C (p.Thr2731Pro) c.8689A>C (p.Thr2897Pro) c.6286A>C (p.Thr2096Pro)
2	g.237336409C>A	CA431702388	COL6A3	c.1336G>T c.8073G>T (p.Val2691=) c.818G>T n.958G>T c.8691G>T (p.Val2897=) c.6867G>T (p.Val2289=) c.6870G>T (p.Val2290=) n.5133G>T c.8091G>T (p.Val2697=) c.7470G>T (p.Val2490=) c.8190G>T (p.Val2730=) c.8688G>T (p.Val2896=) c.6285G>T (p.Val2095=)
2	g.237336409C=	CA1337607184	COL6A3	c.1336G= c.8073G= (p.Val2691=) c.818G= n.958G= c.8691G= (p.Val2897=) c.6867G= (p.Val2289=) c.6870G= (p.Val2290=) n.5133G= c.8091G= (p.Val2697=) c.7470G= (p.Val2490=) c.8190G= (p.Val2730=) c.8688G= (p.Val2896=) c.6285G= (p.Val2095=)
2	g.237336409C>G	CA431702392	COL6A3	c.1336G>C c.8073G>C (p.Val2691=) c.818G>C n.958G>C c.8691G>C (p.Val2897=) c.6867G>C (p.Val2289=) c.6870G>C (p.Val2290=) n.5133G>C c.8091G>C (p.Val2697=) c.7470G>C (p.Val2490=) c.8190G>C (p.Val2730=) c.8688G>C (p.Val2896=) c.6285G>C (p.Val2095=)
2	g.237336409C>T	CA431702390	COL6A3	c.1336G>A c.8073G>A (p.Val2691=) c.818G>A n.958G>A c.8691G>A (p.Val2897=) c.6867G>A (p.Val2289=) c.6870G>A (p.Val2290=) n.5133G>A c.8091G>A (p.Val2697=) c.7470G>A (p.Val2490=) c.8190G>A (p.Val2730=) c.8688G>A (p.Val2896=) c.6285G>A (p.Val2095=)	dbSNP gnomAD v2
2	g.237336409_237336430delinsCACAGGCTTTGTTGTGGTGGTT	CA1337607183	COL6A3	c.1315_1336delinsAACCACCACAACAAAGCCTGTG c.8052_8073delinsAACCACCACAACAAAGCCTGTG (p.Val2684=) c.797_818delinsAACCACCACAACAAAGCCTGTG n.937_958delinsAACCACCACAACAAAGCCTGTG c.8670_8691delinsAACCACCACAACAAAGCCTGTG (p.Val2890=) c.6846_6867delinsAACCACCACAACAAAGCCTGTG (p.Val2282=) c.6849_6870delinsAACCACCACAACAAAGCCTGTG (p.Val2283=) n.5112_5133delinsAACCACCACAACAAAGCCTGTG c.8070_8091delinsAACCACCACAACAAAGCCTGTG (p.Val2690=) c.7449_7470delinsAACCACCACAACAAAGCCTGTG (p.Val2483=) c.8169_8190delinsAACCACCACAACAAAGCCTGTG (p.Val2723=) c.8667_8688delinsAACCACCACAACAAAGCCTGTG (p.Val2889=) c.6264_6285delinsAACCACCACAACAAAGCCTGTG (p.Val2088=)
2	g.237336410A=	CA1337607185	COL6A3	c.1335T= c.8072T= (p.Val2691=) c.817T= n.957T= c.8690T= (p.Val2897=) c.6866T= (p.Val2289=) c.6869T= (p.Val2290=) n.5132T= c.8090T= (p.Val2697=) c.7469T= (p.Val2490=) c.8189T= (p.Val2730=) c.8687T= (p.Val2896=) c.6284T= (p.Val2095=)
2	g.237336410A>C	CA351191838	COL6A3	c.1335T>G c.8072T>G (p.Val2691Gly) c.817T>G n.957T>G c.8690T>G (p.Val2897Gly) c.6866T>G (p.Val2289Gly) c.6869T>G (p.Val2290Gly) n.5132T>G c.8090T>G (p.Val2697Gly) c.7469T>G (p.Val2490Gly) c.8189T>G (p.Val2730Gly) c.8687T>G (p.Val2896Gly) c.6284T>G (p.Val2095Gly)	gnomAD v4
2	g.237336410A>G	CA351191839	COL6A3	c.1335T>C c.8072T>C (p.Val2691Ala) c.817T>C n.957T>C c.8690T>C (p.Val2897Ala) c.6866T>C (p.Val2289Ala) c.6869T>C (p.Val2290Ala) n.5132T>C c.8090T>C (p.Val2697Ala) c.7469T>C (p.Val2490Ala) c.8189T>C (p.Val2730Ala) c.8687T>C (p.Val2896Ala) c.6284T>C (p.Val2095Ala)	gnomAD v4
2	g.237336410A>T	CA351191840	COL6A3	c.1335T>A c.8072T>A (p.Val2691Glu) c.817T>A n.957T>A c.8690T>A (p.Val2897Glu) c.6866T>A (p.Val2289Glu) c.6869T>A (p.Val2290Glu) n.5132T>A c.8090T>A (p.Val2697Glu) c.7469T>A (p.Val2490Glu) c.8189T>A (p.Val2730Glu) c.8687T>A (p.Val2896Glu) c.6284T>A (p.Val2095Glu)	dbSNP
2	g.237336430_237336450dup	CA1043806476	COL6A3	c.1315_1335dup c.8052_8072dup (p.Val2691_Thr2692insThrThrThrThrLysProVal) c.797_817dup n.937_957dup c.8670_8690dup (p.Val2897_Thr2898insThrThrThrThrLysProVal) c.6846_6866dup (p.Val2289_Thr2290insThrThrThrThrLysProVal) c.6849_6869dup (p.Val2290_Thr2291insThrThrThrThrLysProVal) n.5112_5132dup c.8070_8090dup (p.Val2697_Thr2698insThrThrThrThrLysProVal) c.7449_7469dup (p.Val2490_Thr2491insThrThrThrThrLysProVal) c.8169_8189dup (p.Val2730_Thr2731insThrThrThrThrLysProVal) c.8667_8687dup (p.Val2896_Thr2897insThrThrThrThrLysProVal) c.6264_6284dup (p.Val2095_Thr2096insThrThrThrThrLysProVal)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336430_237336450del	CA2187464	COL6A3	c.1315_1335del c.8052_8072del (p.Thr2685_Val2691del) c.797_817del n.937_957del c.8670_8690del (p.Thr2891_Val2897del) c.6846_6866del (p.Thr2283_Val2289del) c.6849_6869del (p.Thr2284_Val2290del) n.5112_5132del c.8070_8090del (p.Thr2691_Val2697del) c.7449_7469del (p.Thr2484_Val2490del) c.8169_8189del (p.Thr2724_Val2730del) c.8667_8687del (p.Thr2890_Val2896del) c.6264_6284del (p.Thr2089_Val2095del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336411C>A	CA351191843	COL6A3	c.1334G>T c.8071G>T (p.Val2691Leu) c.816G>T n.956G>T c.8689G>T (p.Val2897Leu) c.6865G>T (p.Val2289Leu) c.6868G>T (p.Val2290Leu) n.5131G>T c.8089G>T (p.Val2697Leu) c.7468G>T (p.Val2490Leu) c.8188G>T (p.Val2730Leu) c.8686G>T (p.Val2896Leu) c.6283G>T (p.Val2095Leu)
2	g.237336411C>G	CA351191842	COL6A3	c.1334G>C c.8071G>C (p.Val2691Leu) c.816G>C n.956G>C c.8689G>C (p.Val2897Leu) c.6865G>C (p.Val2289Leu) c.6868G>C (p.Val2290Leu) n.5131G>C c.8089G>C (p.Val2697Leu) c.7468G>C (p.Val2490Leu) c.8188G>C (p.Val2730Leu) c.8686G>C (p.Val2896Leu) c.6283G>C (p.Val2095Leu)	gnomAD v4
2	g.237336411C>T	CA351191841	COL6A3	c.1334G>A c.8071G>A (p.Val2691Met) c.816G>A n.956G>A c.8689G>A (p.Val2897Met) c.6865G>A (p.Val2289Met) c.6868G>A (p.Val2290Met) n.5131G>A c.8089G>A (p.Val2697Met) c.7468G>A (p.Val2490Met) c.8188G>A (p.Val2730Met) c.8686G>A (p.Val2896Met) c.6283G>A (p.Val2095Met)
2	g.237336412A=	CA1337607186	COL6A3	c.1333T= c.8070T= (p.Pro2690=) c.815T= n.955T= c.8688T= (p.Pro2896=) c.6864T= (p.Pro2288=) c.6867T= (p.Pro2289=) n.5130T= c.8088T= (p.Pro2696=) c.7467T= (p.Pro2489=) c.8187T= (p.Pro2729=) c.8685T= (p.Pro2895=) c.6282T= (p.Pro2094=)
2	g.237336412A>C	CA431702405	COL6A3	c.1333T>G c.8070T>G (p.Pro2690=) c.815T>G n.955T>G c.8688T>G (p.Pro2896=) c.6864T>G (p.Pro2288=) c.6867T>G (p.Pro2289=) n.5130T>G c.8088T>G (p.Pro2696=) c.7467T>G (p.Pro2489=) c.8187T>G (p.Pro2729=) c.8685T>G (p.Pro2895=) c.6282T>G (p.Pro2094=)
2	g.237336412A>G	CA2187465	COL6A3	c.1333T>C c.8070T>C (p.Pro2690=) c.815T>C n.955T>C c.8688T>C (p.Pro2896=) c.6864T>C (p.Pro2288=) c.6867T>C (p.Pro2289=) n.5130T>C c.8088T>C (p.Pro2696=) c.7467T>C (p.Pro2489=) c.8187T>C (p.Pro2729=) c.8685T>C (p.Pro2895=) c.6282T>C (p.Pro2094=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336412A>T	CA431702408	COL6A3	c.1333T>A c.8070T>A (p.Pro2690=) c.815T>A n.955T>A c.8688T>A (p.Pro2896=) c.6864T>A (p.Pro2288=) c.6867T>A (p.Pro2289=) n.5130T>A c.8088T>A (p.Pro2696=) c.7467T>A (p.Pro2489=) c.8187T>A (p.Pro2729=) c.8685T>A (p.Pro2895=) c.6282T>A (p.Pro2094=)
2	g.237336413G>A	CA351191844	COL6A3	c.1332C>T c.8069C>T (p.Pro2690Leu) c.814C>T n.954C>T c.8687C>T (p.Pro2896Leu) c.6863C>T (p.Pro2288Leu) c.6866C>T (p.Pro2289Leu) n.5129C>T c.8087C>T (p.Pro2696Leu) c.7466C>T (p.Pro2489Leu) c.8186C>T (p.Pro2729Leu) c.8684C>T (p.Pro2895Leu) c.6281C>T (p.Pro2094Leu)
2	g.237336413G>C	CA351191845	COL6A3	c.1332C>G c.8069C>G (p.Pro2690Arg) c.814C>G n.954C>G c.8687C>G (p.Pro2896Arg) c.6863C>G (p.Pro2288Arg) c.6866C>G (p.Pro2289Arg) n.5129C>G c.8087C>G (p.Pro2696Arg) c.7466C>G (p.Pro2489Arg) c.8186C>G (p.Pro2729Arg) c.8684C>G (p.Pro2895Arg) c.6281C>G (p.Pro2094Arg)
2	g.237336413G>T	CA351191846	COL6A3	c.1332C>A c.8069C>A (p.Pro2690His) c.814C>A n.954C>A c.8687C>A (p.Pro2896His) c.6863C>A (p.Pro2288His) c.6866C>A (p.Pro2289His) n.5129C>A c.8087C>A (p.Pro2696His) c.7466C>A (p.Pro2489His) c.8186C>A (p.Pro2729His) c.8684C>A (p.Pro2895His) c.6281C>A (p.Pro2094His)
2	g.237336414G>A	CA351191847	COL6A3	c.1331C>T c.8068C>T (p.Pro2690Ser) c.813C>T n.953C>T c.8686C>T (p.Pro2896Ser) c.6862C>T (p.Pro2288Ser) c.6865C>T (p.Pro2289Ser) n.5128C>T c.8086C>T (p.Pro2696Ser) c.7465C>T (p.Pro2489Ser) c.8185C>T (p.Pro2729Ser) c.8683C>T (p.Pro2895Ser) c.6280C>T (p.Pro2094Ser)
2	g.237336414G>C	CA351191848	COL6A3	c.1331C>G c.8068C>G (p.Pro2690Ala) c.813C>G n.953C>G c.8686C>G (p.Pro2896Ala) c.6862C>G (p.Pro2288Ala) c.6865C>G (p.Pro2289Ala) n.5128C>G c.8086C>G (p.Pro2696Ala) c.7465C>G (p.Pro2489Ala) c.8185C>G (p.Pro2729Ala) c.8683C>G (p.Pro2895Ala) c.6280C>G (p.Pro2094Ala)
2	g.237336414G>T	CA351191849	COL6A3	c.1331C>A c.8068C>A (p.Pro2690Thr) c.813C>A n.953C>A c.8686C>A (p.Pro2896Thr) c.6862C>A (p.Pro2288Thr) c.6865C>A (p.Pro2289Thr) n.5128C>A c.8086C>A (p.Pro2696Thr) c.7465C>A (p.Pro2489Thr) c.8185C>A (p.Pro2729Thr) c.8683C>A (p.Pro2895Thr) c.6280C>A (p.Pro2094Thr)
2	g.237336415C>A	CA351191850	COL6A3	c.1330G>T c.8067G>T (p.Lys2689Asn) c.812G>T n.952G>T c.8685G>T (p.Lys2895Asn) c.6861G>T (p.Lys2287Asn) c.6864G>T (p.Lys2288Asn) n.5127G>T c.8085G>T (p.Lys2695Asn) c.7464G>T (p.Lys2488Asn) c.8184G>T (p.Lys2728Asn) c.8682G>T (p.Lys2894Asn) c.6279G>T (p.Lys2093Asn)	gnomAD v4
2	g.237336415C>G	CA351191851	COL6A3	c.1330G>C c.8067G>C (p.Lys2689Asn) c.812G>C n.952G>C c.8685G>C (p.Lys2895Asn) c.6861G>C (p.Lys2287Asn) c.6864G>C (p.Lys2288Asn) n.5127G>C c.8085G>C (p.Lys2695Asn) c.7464G>C (p.Lys2488Asn) c.8184G>C (p.Lys2728Asn) c.8682G>C (p.Lys2894Asn) c.6279G>C (p.Lys2093Asn)
2	g.237336415C>T	CA431702423	COL6A3	c.1330G>A c.8067G>A (p.Lys2689=) c.812G>A n.952G>A c.8685G>A (p.Lys2895=) c.6861G>A (p.Lys2287=) c.6864G>A (p.Lys2288=) n.5127G>A c.8085G>A (p.Lys2695=) c.7464G>A (p.Lys2488=) c.8184G>A (p.Lys2728=) c.8682G>A (p.Lys2894=) c.6279G>A (p.Lys2093=)
2	g.237336416T>A	CA351191852	COL6A3	c.1329A>T c.8066A>T (p.Lys2689Met) c.811A>T n.951A>T c.8684A>T (p.Lys2895Met) c.6860A>T (p.Lys2287Met) c.6863A>T (p.Lys2288Met) n.5126A>T c.8084A>T (p.Lys2695Met) c.7463A>T (p.Lys2488Met) c.8183A>T (p.Lys2728Met) c.8681A>T (p.Lys2894Met) c.6278A>T (p.Lys2093Met)
2	g.237336416T>C	CA351191853	COL6A3	c.1329A>G c.8066A>G (p.Lys2689Arg) c.811A>G n.951A>G c.8684A>G (p.Lys2895Arg) c.6860A>G (p.Lys2287Arg) c.6863A>G (p.Lys2288Arg) n.5126A>G c.8084A>G (p.Lys2695Arg) c.7463A>G (p.Lys2488Arg) c.8183A>G (p.Lys2728Arg) c.8681A>G (p.Lys2894Arg) c.6278A>G (p.Lys2093Arg)
2	g.237336416T>G	CA351191854	COL6A3	c.1329A>C c.8066A>C (p.Lys2689Thr) c.811A>C n.951A>C c.8684A>C (p.Lys2895Thr) c.6860A>C (p.Lys2287Thr) c.6863A>C (p.Lys2288Thr) n.5126A>C c.8084A>C (p.Lys2695Thr) c.7463A>C (p.Lys2488Thr) c.8183A>C (p.Lys2728Thr) c.8681A>C (p.Lys2894Thr) c.6278A>C (p.Lys2093Thr)
2	g.237336417T>A	CA351191856	COL6A3	c.1328A>T c.8065A>T (p.Lys2689Ter) c.810A>T n.950A>T c.8683A>T (p.Lys2895Ter) c.6859A>T (p.Lys2287Ter) c.6862A>T (p.Lys2288Ter) n.5125A>T c.8083A>T (p.Lys2695Ter) c.7462A>T (p.Lys2488Ter) c.8182A>T (p.Lys2728Ter) c.8680A>T (p.Lys2894Ter) c.6277A>T (p.Lys2093Ter)
2	g.237336417T>C	CA351191857	COL6A3	c.1328A>G c.8065A>G (p.Lys2689Glu) c.810A>G n.950A>G c.8683A>G (p.Lys2895Glu) c.6859A>G (p.Lys2287Glu) c.6862A>G (p.Lys2288Glu) n.5125A>G c.8083A>G (p.Lys2695Glu) c.7462A>G (p.Lys2488Glu) c.8182A>G (p.Lys2728Glu) c.8680A>G (p.Lys2894Glu) c.6277A>G (p.Lys2093Glu)
2	g.237336417T>G	CA351191855	COL6A3	c.1328A>C c.8065A>C (p.Lys2689Gln) c.810A>C n.950A>C c.8683A>C (p.Lys2895Gln) c.6859A>C (p.Lys2287Gln) c.6862A>C (p.Lys2288Gln) n.5125A>C c.8083A>C (p.Lys2695Gln) c.7462A>C (p.Lys2488Gln) c.8182A>C (p.Lys2728Gln) c.8680A>C (p.Lys2894Gln) c.6277A>C (p.Lys2093Gln)
2	g.237336418T>A	CA431702436	COL6A3	c.1327A>T c.8064A>T (p.Thr2688=) c.809A>T n.949A>T c.8682A>T (p.Thr2894=) c.6858A>T (p.Thr2286=) c.6861A>T (p.Thr2287=) n.5124A>T c.8082A>T (p.Thr2694=) c.7461A>T (p.Thr2487=) c.8181A>T (p.Thr2727=) c.8679A>T (p.Thr2893=) c.6276A>T (p.Thr2092=)
2	g.237336418T>C	CA431702438	COL6A3	c.1327A>G c.8064A>G (p.Thr2688=) c.809A>G n.949A>G c.8682A>G (p.Thr2894=) c.6858A>G (p.Thr2286=) c.6861A>G (p.Thr2287=) n.5124A>G c.8082A>G (p.Thr2694=) c.7461A>G (p.Thr2487=) c.8181A>G (p.Thr2727=) c.8679A>G (p.Thr2893=) c.6276A>G (p.Thr2092=)
2	g.237336418T>G	CA431702441	COL6A3	c.1327A>C c.8064A>C (p.Thr2688=) c.809A>C n.949A>C c.8682A>C (p.Thr2894=) c.6858A>C (p.Thr2286=) c.6861A>C (p.Thr2287=) n.5124A>C c.8082A>C (p.Thr2694=) c.7461A>C (p.Thr2487=) c.8181A>C (p.Thr2727=) c.8679A>C (p.Thr2893=) c.6276A>C (p.Thr2092=)
2	g.237336419G>A	CA2187466	COL6A3	c.1326C>T c.8063C>T (p.Thr2688Ile) c.808C>T n.948C>T c.8681C>T (p.Thr2894Ile) c.6857C>T (p.Thr2286Ile) c.6860C>T (p.Thr2287Ile) n.5123C>T c.8081C>T (p.Thr2694Ile) c.7460C>T (p.Thr2487Ile) c.8180C>T (p.Thr2727Ile) c.8678C>T (p.Thr2893Ile) c.6275C>T (p.Thr2092Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336419G>C	CA351191858	COL6A3	c.1326C>G c.8063C>G (p.Thr2688Arg) c.808C>G n.948C>G c.8681C>G (p.Thr2894Arg) c.6857C>G (p.Thr2286Arg) c.6860C>G (p.Thr2287Arg) n.5123C>G c.8081C>G (p.Thr2694Arg) c.7460C>G (p.Thr2487Arg) c.8180C>G (p.Thr2727Arg) c.8678C>G (p.Thr2893Arg) c.6275C>G (p.Thr2092Arg)
2	g.237336419G=	CA1337607187	COL6A3	c.1326C= c.8063C= (p.Thr2688=) c.808C= n.948C= c.8681C= (p.Thr2894=) c.6857C= (p.Thr2286=) c.6860C= (p.Thr2287=) n.5123C= c.8081C= (p.Thr2694=) c.7460C= (p.Thr2487=) c.8180C= (p.Thr2727=) c.8678C= (p.Thr2893=) c.6275C= (p.Thr2092=)
2	g.237336419G>T	CA351191859	COL6A3	c.1326C>A c.8063C>A (p.Thr2688Lys) c.808C>A n.948C>A c.8681C>A (p.Thr2894Lys) c.6857C>A (p.Thr2286Lys) c.6860C>A (p.Thr2287Lys) n.5123C>A c.8081C>A (p.Thr2694Lys) c.7460C>A (p.Thr2487Lys) c.8180C>A (p.Thr2727Lys) c.8678C>A (p.Thr2893Lys) c.6275C>A (p.Thr2092Lys)
2	g.237336420T>A	CA351191860	COL6A3	c.1325A>T c.8062A>T (p.Thr2688Ser) c.807A>T n.947A>T c.8680A>T (p.Thr2894Ser) c.6856A>T (p.Thr2286Ser) c.6859A>T (p.Thr2287Ser) n.5122A>T c.8080A>T (p.Thr2694Ser) c.7459A>T (p.Thr2487Ser) c.8179A>T (p.Thr2727Ser) c.8677A>T (p.Thr2893Ser) c.6274A>T (p.Thr2092Ser)
2	g.237336420T>C	CA351191861	COL6A3	c.1325A>G c.8062A>G (p.Thr2688Ala) c.807A>G n.947A>G c.8680A>G (p.Thr2894Ala) c.6856A>G (p.Thr2286Ala) c.6859A>G (p.Thr2287Ala) n.5122A>G c.8080A>G (p.Thr2694Ala) c.7459A>G (p.Thr2487Ala) c.8179A>G (p.Thr2727Ala) c.8677A>G (p.Thr2893Ala) c.6274A>G (p.Thr2092Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336420T>G	CA351191862	COL6A3	c.1325A>C c.8062A>C (p.Thr2688Pro) c.807A>C n.947A>C c.8680A>C (p.Thr2894Pro) c.6856A>C (p.Thr2286Pro) c.6859A>C (p.Thr2287Pro) n.5122A>C c.8080A>C (p.Thr2694Pro) c.7459A>C (p.Thr2487Pro) c.8179A>C (p.Thr2727Pro) c.8677A>C (p.Thr2893Pro) c.6274A>C (p.Thr2092Pro)
2	g.237336420T=	CA1337607188	COL6A3	c.1325A= c.8062A= (p.Thr2688=) c.807A= n.947A= c.8680A= (p.Thr2894=) c.6856A= (p.Thr2286=) c.6859A= (p.Thr2287=) n.5122A= c.8080A= (p.Thr2694=) c.7459A= (p.Thr2487=) c.8179A= (p.Thr2727=) c.8677A= (p.Thr2893=) c.6274A= (p.Thr2092=)
2	g.237336421T>A	CA431702458	COL6A3	c.1324A>T c.8061A>T (p.Thr2687=) c.806A>T n.946A>T c.8679A>T (p.Thr2893=) c.6855A>T (p.Thr2285=) c.6858A>T (p.Thr2286=) n.5121A>T c.8079A>T (p.Thr2693=) c.7458A>T (p.Thr2486=) c.8178A>T (p.Thr2726=) c.8676A>T (p.Thr2892=) c.6273A>T (p.Thr2091=)
2	g.237336421T>C	CA431702454	COL6A3	c.1324A>G c.8061A>G (p.Thr2687=) c.806A>G n.946A>G c.8679A>G (p.Thr2893=) c.6855A>G (p.Thr2285=) c.6858A>G (p.Thr2286=) n.5121A>G c.8079A>G (p.Thr2693=) c.7458A>G (p.Thr2486=) c.8178A>G (p.Thr2726=) c.8676A>G (p.Thr2892=) c.6273A>G (p.Thr2091=)
2	g.237336421T>G	CA431702456	COL6A3	c.1324A>C c.8061A>C (p.Thr2687=) c.806A>C n.946A>C c.8679A>C (p.Thr2893=) c.6855A>C (p.Thr2285=) c.6858A>C (p.Thr2286=) n.5121A>C c.8079A>C (p.Thr2693=) c.7458A>C (p.Thr2486=) c.8178A>C (p.Thr2726=) c.8676A>C (p.Thr2892=) c.6273A>C (p.Thr2091=)
2	g.237336422G>A	CA351191865	COL6A3	c.1323C>T c.8060C>T (p.Thr2687Ile) c.805C>T n.945C>T c.8678C>T (p.Thr2893Ile) c.6854C>T (p.Thr2285Ile) c.6857C>T (p.Thr2286Ile) n.5120C>T c.8078C>T (p.Thr2693Ile) c.7457C>T (p.Thr2486Ile) c.8177C>T (p.Thr2726Ile) c.8675C>T (p.Thr2892Ile) c.6272C>T (p.Thr2091Ile)
2	g.237336422G>C	CA351191863	COL6A3	c.1323C>G c.8060C>G (p.Thr2687Arg) c.805C>G n.945C>G c.8678C>G (p.Thr2893Arg) c.6854C>G (p.Thr2285Arg) c.6857C>G (p.Thr2286Arg) n.5120C>G c.8078C>G (p.Thr2693Arg) c.7457C>G (p.Thr2486Arg) c.8177C>G (p.Thr2726Arg) c.8675C>G (p.Thr2892Arg) c.6272C>G (p.Thr2091Arg)
2	g.237336422G>T	CA351191864	COL6A3	c.1323C>A c.8060C>A (p.Thr2687Lys) c.805C>A n.945C>A c.8678C>A (p.Thr2893Lys) c.6854C>A (p.Thr2285Lys) c.6857C>A (p.Thr2286Lys) n.5120C>A c.8078C>A (p.Thr2693Lys) c.7457C>A (p.Thr2486Lys) c.8177C>A (p.Thr2726Lys) c.8675C>A (p.Thr2892Lys) c.6272C>A (p.Thr2091Lys)
2	g.237336423T>A	CA351191866	COL6A3	c.1322A>T c.8059A>T (p.Thr2687Ser) c.804A>T n.944A>T c.8677A>T (p.Thr2893Ser) c.6853A>T (p.Thr2285Ser) c.6856A>T (p.Thr2286Ser) n.5119A>T c.8077A>T (p.Thr2693Ser) c.7456A>T (p.Thr2486Ser) c.8176A>T (p.Thr2726Ser) c.8674A>T (p.Thr2892Ser) c.6271A>T (p.Thr2091Ser)
2	g.237336423T>C	CA2187467	COL6A3	c.1322A>G c.8059A>G (p.Thr2687Ala) c.804A>G n.944A>G c.8677A>G (p.Thr2893Ala) c.6853A>G (p.Thr2285Ala) c.6856A>G (p.Thr2286Ala) n.5119A>G c.8077A>G (p.Thr2693Ala) c.7456A>G (p.Thr2486Ala) c.8176A>G (p.Thr2726Ala) c.8674A>G (p.Thr2892Ala) c.6271A>G (p.Thr2091Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336423T>G	CA351191867	COL6A3	c.1322A>C c.8059A>C (p.Thr2687Pro) c.804A>C n.944A>C c.8677A>C (p.Thr2893Pro) c.6853A>C (p.Thr2285Pro) c.6856A>C (p.Thr2286Pro) n.5119A>C c.8077A>C (p.Thr2693Pro) c.7456A>C (p.Thr2486Pro) c.8176A>C (p.Thr2726Pro) c.8674A>C (p.Thr2892Pro) c.6271A>C (p.Thr2091Pro)
2	g.237336423T=	CA1337607189	COL6A3	c.1322A= c.8059A= (p.Thr2687=) c.804A= n.944A= c.8677A= (p.Thr2893=) c.6853A= (p.Thr2285=) c.6856A= (p.Thr2286=) n.5119A= c.8077A= (p.Thr2693=) c.7456A= (p.Thr2486=) c.8176A= (p.Thr2726=) c.8674A= (p.Thr2892=) c.6271A= (p.Thr2091=)
2	g.237336424G>A	CA431702472	COL6A3	c.1321C>T c.8058C>T (p.Thr2686=) c.803C>T n.943C>T c.8676C>T (p.Thr2892=) c.6852C>T (p.Thr2284=) c.6855C>T (p.Thr2285=) n.5118C>T c.8076C>T (p.Thr2692=) c.7455C>T (p.Thr2485=) c.8175C>T (p.Thr2725=) c.8673C>T (p.Thr2891=) c.6270C>T (p.Thr2090=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.237336424G>C	CA431702474	COL6A3	c.1321C>G c.8058C>G (p.Thr2686=) c.803C>G n.943C>G c.8676C>G (p.Thr2892=) c.6852C>G (p.Thr2284=) c.6855C>G (p.Thr2285=) n.5118C>G c.8076C>G (p.Thr2692=) c.7455C>G (p.Thr2485=) c.8175C>G (p.Thr2725=) c.8673C>G (p.Thr2891=) c.6270C>G (p.Thr2090=)	gnomAD v4
2	g.237336424G=	CA1337607190	COL6A3	c.1321C= c.8058C= (p.Thr2686=) c.803C= n.943C= c.8676C= (p.Thr2892=) c.6852C= (p.Thr2284=) c.6855C= (p.Thr2285=) n.5118C= c.8076C= (p.Thr2692=) c.7455C= (p.Thr2485=) c.8175C= (p.Thr2725=) c.8673C= (p.Thr2891=) c.6270C= (p.Thr2090=)
2	g.237336424G>T	CA431702476	COL6A3	c.1321C>A c.8058C>A (p.Thr2686=) c.803C>A n.943C>A c.8676C>A (p.Thr2892=) c.6852C>A (p.Thr2284=) c.6855C>A (p.Thr2285=) n.5118C>A c.8076C>A (p.Thr2692=) c.7455C>A (p.Thr2485=) c.8175C>A (p.Thr2725=) c.8673C>A (p.Thr2891=) c.6270C>A (p.Thr2090=)	dbSNP gnomAD v4
2	g.237336424_237336425insTTGG	CA2754786750	COL6A3	c.1321_1322insCAAC c.8058_8059insCAAC (p.Thr2687GlnfsTer?) c.803_804insCAAC n.943_944insCAAC c.8676_8677insCAAC (p.Thr2893GlnfsTer?) c.6852_6853insCAAC (p.Thr2285GlnfsTer?) c.6855_6856insCAAC (p.Thr2286GlnfsTer?) n.5118_5119insCAAC c.8076_8077insCAAC (p.Thr2693GlnfsTer?) c.7455_7456insCAAC (p.Thr2486GlnfsTer?) c.8175_8176insCAAC (p.Thr2726GlnfsTer?) c.8673_8674insCAAC (p.Thr2892GlnfsTer?) c.6270_6271insCAAC (p.Thr2091GlnfsTer?)
2	g.237336424_237336425insTTGGGT	CA2754786751	COL6A3	c.1320_1321insACCCAA c.8057_8058insACCCAA (p.Thr2686_Thr2687insProAsn) c.802_803insACCCAA n.942_943insACCCAA c.8675_8676insACCCAA (p.Thr2892_Thr2893insProAsn) c.6851_6852insACCCAA (p.Thr2284_Thr2285insProAsn) c.6854_6855insACCCAA (p.Thr2285_Thr2286insProAsn) n.5117_5118insACCCAA c.8075_8076insACCCAA (p.Thr2692_Thr2693insProAsn) c.7454_7455insACCCAA (p.Thr2485_Thr2486insProAsn) c.8174_8175insACCCAA (p.Thr2725_Thr2726insProAsn) c.8672_8673insACCCAA (p.Thr2891_Thr2892insProAsn) c.6269_6270insACCCAA (p.Thr2090_Thr2091insProAsn)
2	g.237336425G>A	CA351191868	COL6A3	c.1320C>T c.8057C>T (p.Thr2686Ile) c.802C>T n.942C>T c.8675C>T (p.Thr2892Ile) c.6851C>T (p.Thr2284Ile) c.6854C>T (p.Thr2285Ile) n.5117C>T c.8075C>T (p.Thr2692Ile) c.7454C>T (p.Thr2485Ile) c.8174C>T (p.Thr2725Ile) c.8672C>T (p.Thr2891Ile) c.6269C>T (p.Thr2090Ile)	gnomAD v4
2	g.237336425G>C	CA351191869	COL6A3	c.1320C>G c.8057C>G (p.Thr2686Ser) c.802C>G n.942C>G c.8675C>G (p.Thr2892Ser) c.6851C>G (p.Thr2284Ser) c.6854C>G (p.Thr2285Ser) n.5117C>G c.8075C>G (p.Thr2692Ser) c.7454C>G (p.Thr2485Ser) c.8174C>G (p.Thr2725Ser) c.8672C>G (p.Thr2891Ser) c.6269C>G (p.Thr2090Ser)
2	g.237336425G>T	CA351191870	COL6A3	c.1320C>A c.8057C>A (p.Thr2686Asn) c.802C>A n.942C>A c.8675C>A (p.Thr2892Asn) c.6851C>A (p.Thr2284Asn) c.6854C>A (p.Thr2285Asn) n.5117C>A c.8075C>A (p.Thr2692Asn) c.7454C>A (p.Thr2485Asn) c.8174C>A (p.Thr2725Asn) c.8672C>A (p.Thr2891Asn) c.6269C>A (p.Thr2090Asn)
2	g.237336426T>A	CA351191871	COL6A3	c.1319A>T c.8056A>T (p.Thr2686Ser) c.801A>T n.941A>T c.8674A>T (p.Thr2892Ser) c.6850A>T (p.Thr2284Ser) c.6853A>T (p.Thr2285Ser) n.5116A>T c.8074A>T (p.Thr2692Ser) c.7453A>T (p.Thr2485Ser) c.8173A>T (p.Thr2725Ser) c.8671A>T (p.Thr2891Ser) c.6268A>T (p.Thr2090Ser)
2	g.237336426T>C	CA351191873	COL6A3	c.1319A>G c.8056A>G (p.Thr2686Ala) c.801A>G n.941A>G c.8674A>G (p.Thr2892Ala) c.6850A>G (p.Thr2284Ala) c.6853A>G (p.Thr2285Ala) n.5116A>G c.8074A>G (p.Thr2692Ala) c.7453A>G (p.Thr2485Ala) c.8173A>G (p.Thr2725Ala) c.8671A>G (p.Thr2891Ala) c.6268A>G (p.Thr2090Ala)
2	g.237336426T>G	CA351191872	COL6A3	c.1319A>C c.8056A>C (p.Thr2686Pro) c.801A>C n.941A>C c.8674A>C (p.Thr2892Pro) c.6850A>C (p.Thr2284Pro) c.6853A>C (p.Thr2285Pro) n.5116A>C c.8074A>C (p.Thr2692Pro) c.7453A>C (p.Thr2485Pro) c.8173A>C (p.Thr2725Pro) c.8671A>C (p.Thr2891Pro) c.6268A>C (p.Thr2090Pro)
2	g.237336426T=	CA1337607191	COL6A3	c.1319A= c.8056A= (p.Thr2686=) c.801A= n.941A= c.8674A= (p.Thr2892=) c.6850A= (p.Thr2284=) c.6853A= (p.Thr2285=) n.5116A= c.8074A= (p.Thr2692=) c.7453A= (p.Thr2485=) c.8173A= (p.Thr2725=) c.8671A= (p.Thr2891=) c.6268A= (p.Thr2090=)
2	g.237336427G>A	CA431702490	COL6A3	c.1318C>T c.8055C>T (p.Thr2685=) c.800C>T n.940C>T c.8673C>T (p.Thr2891=) c.6849C>T (p.Thr2283=) c.6852C>T (p.Thr2284=) n.5115C>T c.8073C>T (p.Thr2691=) c.7452C>T (p.Thr2484=) c.8172C>T (p.Thr2724=) c.8670C>T (p.Thr2890=) c.6267C>T (p.Thr2089=)
2	g.237336427G>C	CA431702493	COL6A3	c.1318C>G c.8055C>G (p.Thr2685=) c.800C>G n.940C>G c.8673C>G (p.Thr2891=) c.6849C>G (p.Thr2283=) c.6852C>G (p.Thr2284=) n.5115C>G c.8073C>G (p.Thr2691=) c.7452C>G (p.Thr2484=) c.8172C>G (p.Thr2724=) c.8670C>G (p.Thr2890=) c.6267C>G (p.Thr2089=)
2	g.237336427G=	CA1337607192	COL6A3	c.1318C= c.8055C= (p.Thr2685=) c.800C= n.940C= c.8673C= (p.Thr2891=) c.6849C= (p.Thr2283=) c.6852C= (p.Thr2284=) n.5115C= c.8073C= (p.Thr2691=) c.7452C= (p.Thr2484=) c.8172C= (p.Thr2724=) c.8670C= (p.Thr2890=) c.6267C= (p.Thr2089=)
2	g.237336427G>T	CA2187468	COL6A3	c.1318C>A c.8055C>A (p.Thr2685=) c.800C>A n.940C>A c.8673C>A (p.Thr2891=) c.6849C>A (p.Thr2283=) c.6852C>A (p.Thr2284=) n.5115C>A c.8073C>A (p.Thr2691=) c.7452C>A (p.Thr2484=) c.8172C>A (p.Thr2724=) c.8670C>A (p.Thr2890=) c.6267C>A (p.Thr2089=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336428dup	CA67830681	COL6A3	c.1318dup c.8055dup (p.Thr2686HisfsTer?) c.800dup n.940dup c.8673dup (p.Thr2892HisfsTer?) c.6849dup (p.Thr2284HisfsTer?) c.6852dup (p.Thr2285HisfsTer?) n.5115dup c.8073dup (p.Thr2692HisfsTer?) c.7452dup (p.Thr2485HisfsTer?) c.8172dup (p.Thr2725HisfsTer?) c.8670dup (p.Thr2891HisfsTer?) c.6267dup (p.Thr2090HisfsTer?)	dbSNP
2	g.237336427_237336428insT	CA2754786752	COL6A3	c.1317_1318insA c.8054_8055insA (p.Thr2686HisfsTer?) c.799_800insA n.939_940insA c.8672_8673insA (p.Thr2892HisfsTer?) c.6848_6849insA (p.Thr2284HisfsTer?) c.6851_6852insA (p.Thr2285HisfsTer?) n.5114_5115insA c.8072_8073insA (p.Thr2692HisfsTer?) c.7451_7452insA (p.Thr2485HisfsTer?) c.8171_8172insA (p.Thr2725HisfsTer?) c.8669_8670insA (p.Thr2891HisfsTer?) c.6266_6267insA (p.Thr2090HisfsTer?)
2	g.237336427_237336428insTGTTTGGT	CA2754786753	COL6A3	c.1317_1318insACCAAACA c.8054_8055insACCAAACA (p.Thr2686ProfsTer9) c.799_800insACCAAACA n.939_940insACCAAACA c.8672_8673insACCAAACA (p.Thr2892ProfsTer9) c.6848_6849insACCAAACA (p.Thr2284ProfsTer9) c.6851_6852insACCAAACA (p.Thr2285ProfsTer9) n.5114_5115insACCAAACA c.8072_8073insACCAAACA (p.Thr2692ProfsTer9) c.7451_7452insACCAAACA (p.Thr2485ProfsTer9) c.8171_8172insACCAAACA (p.Thr2725ProfsTer9) c.8669_8670insACCAAACA (p.Thr2891ProfsTer9) c.6266_6267insACCAAACA (p.Thr2090ProfsTer9)
2	g.237336428G>A	CA351191874	COL6A3	c.1317C>T c.8054C>T (p.Thr2685Ile) c.799C>T n.939C>T c.8672C>T (p.Thr2891Ile) c.6848C>T (p.Thr2283Ile) c.6851C>T (p.Thr2284Ile) n.5114C>T c.8072C>T (p.Thr2691Ile) c.7451C>T (p.Thr2484Ile) c.8171C>T (p.Thr2724Ile) c.8669C>T (p.Thr2890Ile) c.6266C>T (p.Thr2089Ile)
2	g.237336428G>C	CA351191875	COL6A3	c.1317C>G c.8054C>G (p.Thr2685Ser) c.799C>G n.939C>G c.8672C>G (p.Thr2891Ser) c.6848C>G (p.Thr2283Ser) c.6851C>G (p.Thr2284Ser) n.5114C>G c.8072C>G (p.Thr2691Ser) c.7451C>G (p.Thr2484Ser) c.8171C>G (p.Thr2724Ser) c.8669C>G (p.Thr2890Ser) c.6266C>G (p.Thr2089Ser)
2	g.237336428G>T	CA351191876	COL6A3	c.1317C>A c.8054C>A (p.Thr2685Asn) c.799C>A n.939C>A c.8672C>A (p.Thr2891Asn) c.6848C>A (p.Thr2283Asn) c.6851C>A (p.Thr2284Asn) n.5114C>A c.8072C>A (p.Thr2691Asn) c.7451C>A (p.Thr2484Asn) c.8171C>A (p.Thr2724Asn) c.8669C>A (p.Thr2890Asn) c.6266C>A (p.Thr2089Asn)
2	g.237336428_237336429insGTGTGT	CA2754786754	COL6A3	c.1316_1317insACACAC c.8053_8054insACACAC (p.Thr2685delinsAsnThrPro) c.798_799insACACAC n.938_939insACACAC c.8671_8672insACACAC (p.Thr2891delinsAsnThrPro) c.6847_6848insACACAC (p.Thr2283delinsAsnThrPro) c.6850_6851insACACAC (p.Thr2284delinsAsnThrPro) n.5113_5114insACACAC c.8071_8072insACACAC (p.Thr2691delinsAsnThrPro) c.7450_7451insACACAC (p.Thr2484delinsAsnThrPro) c.8170_8171insACACAC (p.Thr2724delinsAsnThrPro) c.8668_8669insACACAC (p.Thr2890delinsAsnThrPro) c.6265_6266insACACAC (p.Thr2089delinsAsnThrPro)
2	g.237336429T>A	CA351191877	COL6A3	c.1316A>T c.8053A>T (p.Thr2685Ser) c.798A>T n.938A>T c.8671A>T (p.Thr2891Ser) c.6847A>T (p.Thr2283Ser) c.6850A>T (p.Thr2284Ser) n.5113A>T c.8071A>T (p.Thr2691Ser) c.7450A>T (p.Thr2484Ser) c.8170A>T (p.Thr2724Ser) c.8668A>T (p.Thr2890Ser) c.6265A>T (p.Thr2089Ser)
2	g.237336429T>C	CA351191878	COL6A3	c.1316A>G c.8053A>G (p.Thr2685Ala) c.798A>G n.938A>G c.8671A>G (p.Thr2891Ala) c.6847A>G (p.Thr2283Ala) c.6850A>G (p.Thr2284Ala) n.5113A>G c.8071A>G (p.Thr2691Ala) c.7450A>G (p.Thr2484Ala) c.8170A>G (p.Thr2724Ala) c.8668A>G (p.Thr2890Ala) c.6265A>G (p.Thr2089Ala)
2	g.237336429T>G	CA351191879	COL6A3	c.1316A>C c.8053A>C (p.Thr2685Pro) c.798A>C n.938A>C c.8671A>C (p.Thr2891Pro) c.6847A>C (p.Thr2283Pro) c.6850A>C (p.Thr2284Pro) n.5113A>C c.8071A>C (p.Thr2691Pro) c.7450A>C (p.Thr2484Pro) c.8170A>C (p.Thr2724Pro) c.8668A>C (p.Thr2890Pro) c.6265A>C (p.Thr2089Pro)
2	g.237336430T>A	CA431702495	COL6A3	c.1315A>T c.8052A>T (p.Val2684=) c.797A>T n.937A>T c.8670A>T (p.Val2890=) c.6846A>T (p.Val2282=) c.6849A>T (p.Val2283=) n.5112A>T c.8070A>T (p.Val2690=) c.7449A>T (p.Val2483=) c.8169A>T (p.Val2723=) c.8667A>T (p.Val2889=) c.6264A>T (p.Val2088=)
2	g.237336430T>C	CA67830694	COL6A3	c.1315A>G c.8052A>G (p.Val2684=) c.797A>G n.937A>G c.8670A>G (p.Val2890=) c.6846A>G (p.Val2282=) c.6849A>G (p.Val2283=) n.5112A>G c.8070A>G (p.Val2690=) c.7449A>G (p.Val2483=) c.8169A>G (p.Val2723=) c.8667A>G (p.Val2889=) c.6264A>G (p.Val2088=)	ClinVar dbSNP
2	g.237336430T>G	CA431702494	COL6A3	c.1315A>C c.8052A>C (p.Val2684=) c.797A>C n.937A>C c.8670A>C (p.Val2890=) c.6846A>C (p.Val2282=) c.6849A>C (p.Val2283=) n.5112A>C c.8070A>C (p.Val2690=) c.7449A>C (p.Val2483=) c.8169A>C (p.Val2723=) c.8667A>C (p.Val2889=) c.6264A>C (p.Val2088=)
2	g.237336430T=	CA1337607193	COL6A3	c.1315A= c.8052A= (p.Val2684=) c.797A= n.937A= c.8670A= (p.Val2890=) c.6846A= (p.Val2282=) c.6849A= (p.Val2283=) n.5112A= c.8070A= (p.Val2690=) c.7449A= (p.Val2483=) c.8169A= (p.Val2723=) c.8667A= (p.Val2889=) c.6264A= (p.Val2088=)
2	g.237336431A=	CA1337607195	COL6A3	c.1314T= c.8051T= (p.Val2684=) c.796T= n.936T= c.8669T= (p.Val2890=) c.6845T= (p.Val2282=) c.6848T= (p.Val2283=) n.5111T= c.8069T= (p.Val2690=) c.7448T= (p.Val2483=) c.8168T= (p.Val2723=) c.8666T= (p.Val2889=) c.6263T= (p.Val2088=)
2	g.237336431A>C	CA351191880	COL6A3	c.1314T>G c.8051T>G (p.Val2684Gly) c.796T>G n.936T>G c.8669T>G (p.Val2890Gly) c.6845T>G (p.Val2282Gly) c.6848T>G (p.Val2283Gly) n.5111T>G c.8069T>G (p.Val2690Gly) c.7448T>G (p.Val2483Gly) c.8168T>G (p.Val2723Gly) c.8666T>G (p.Val2889Gly) c.6263T>G (p.Val2088Gly)
2	g.237336431A>G	CA2187469	COL6A3	c.1314T>C c.8051T>C (p.Val2684Ala) c.796T>C n.936T>C c.8669T>C (p.Val2890Ala) c.6845T>C (p.Val2282Ala) c.6848T>C (p.Val2283Ala) n.5111T>C c.8069T>C (p.Val2690Ala) c.7448T>C (p.Val2483Ala) c.8168T>C (p.Val2723Ala) c.8666T>C (p.Val2889Ala) c.6263T>C (p.Val2088Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336431A>T	CA351191881	COL6A3	c.1314T>A c.8051T>A (p.Val2684Glu) c.796T>A n.936T>A c.8669T>A (p.Val2890Glu) c.6845T>A (p.Val2282Glu) c.6848T>A (p.Val2283Glu) n.5111T>A c.8069T>A (p.Val2690Glu) c.7448T>A (p.Val2483Glu) c.8168T>A (p.Val2723Glu) c.8666T>A (p.Val2889Glu) c.6263T>A (p.Val2088Glu)
2	g.237336431_237336433del	CA2754786755	COL6A3	c.1312_1314del c.8049_8051del (p.Val2684del) c.794_796del n.934_936del c.8667_8669del (p.Val2890del) c.6843_6845del (p.Val2282del) c.6846_6848del (p.Val2283del) n.5109_5111del c.8067_8069del (p.Val2690del) c.7446_7448del (p.Val2483del) c.8166_8168del (p.Val2723del) c.8664_8666del (p.Val2889del) c.6261_6263del (p.Val2088del)
2	g.237336433_237336453dup	CA1337607194	COL6A3	c.1294_1314dup c.8031_8051dup (p.Val2684_Thr2685insThrThrThrThrLysProVal) c.776_796dup n.916_936dup c.8649_8669dup (p.Val2890_Thr2891insThrThrThrThrLysProVal) c.6825_6845dup (p.Val2282_Thr2283insThrThrThrThrLysProVal) c.6828_6848dup (p.Val2283_Thr2284insThrThrThrThrLysProVal) n.5091_5111dup c.8049_8069dup (p.Val2690_Thr2691insThrThrThrThrLysProVal) c.7428_7448dup (p.Val2483_Thr2484insThrThrThrThrLysProVal) c.8148_8168dup (p.Val2723_Thr2724insThrThrThrThrLysProVal) c.8646_8666dup (p.Val2889_Thr2890insThrThrThrThrLysProVal) c.6243_6263dup (p.Val2088_Thr2089insThrThrThrThrLysProVal)	dbSNP
2	g.237336432C>A	CA351191882	COL6A3	c.1313G>T c.8050G>T (p.Val2684Leu) c.795G>T n.935G>T c.8668G>T (p.Val2890Leu) c.6844G>T (p.Val2282Leu) c.6847G>T (p.Val2283Leu) n.5110G>T c.8068G>T (p.Val2690Leu) c.7447G>T (p.Val2483Leu) c.8167G>T (p.Val2723Leu) c.8665G>T (p.Val2889Leu) c.6262G>T (p.Val2088Leu)
2	g.237336432C>G	CA351191884	COL6A3	c.1313G>C c.8050G>C (p.Val2684Leu) c.795G>C n.935G>C c.8668G>C (p.Val2890Leu) c.6844G>C (p.Val2282Leu) c.6847G>C (p.Val2283Leu) n.5110G>C c.8068G>C (p.Val2690Leu) c.7447G>C (p.Val2483Leu) c.8167G>C (p.Val2723Leu) c.8665G>C (p.Val2889Leu) c.6262G>C (p.Val2088Leu)
2	g.237336432C>T	CA351191883	COL6A3	c.1313G>A c.8050G>A (p.Val2684Ile) c.795G>A n.935G>A c.8668G>A (p.Val2890Ile) c.6844G>A (p.Val2282Ile) c.6847G>A (p.Val2283Ile) n.5110G>A c.8068G>A (p.Val2690Ile) c.7447G>A (p.Val2483Ile) c.8167G>A (p.Val2723Ile) c.8665G>A (p.Val2889Ile) c.6262G>A (p.Val2088Ile)
2	g.237336433A=	CA1337607196	COL6A3	c.1312T= c.8049T= (p.Pro2683=) c.794T= n.934T= c.8667T= (p.Pro2889=) c.6843T= (p.Pro2281=) c.6846T= (p.Pro2282=) n.5109T= c.8067T= (p.Pro2689=) c.7446T= (p.Pro2482=) c.8166T= (p.Pro2722=) c.8664T= (p.Pro2888=) c.6261T= (p.Pro2087=)
2	g.237336433A>C	CA431702496	COL6A3	c.1312T>G c.8049T>G (p.Pro2683=) c.794T>G n.934T>G c.8667T>G (p.Pro2889=) c.6843T>G (p.Pro2281=) c.6846T>G (p.Pro2282=) n.5109T>G c.8067T>G (p.Pro2689=) c.7446T>G (p.Pro2482=) c.8166T>G (p.Pro2722=) c.8664T>G (p.Pro2888=) c.6261T>G (p.Pro2087=)	COSMIC
2	g.237336433A>G	CA431702497	COL6A3	c.1312T>C c.8049T>C (p.Pro2683=) c.794T>C n.934T>C c.8667T>C (p.Pro2889=) c.6843T>C (p.Pro2281=) c.6846T>C (p.Pro2282=) n.5109T>C c.8067T>C (p.Pro2689=) c.7446T>C (p.Pro2482=) c.8166T>C (p.Pro2722=) c.8664T>C (p.Pro2888=) c.6261T>C (p.Pro2087=)	ClinVar dbSNP gnomAD v4
2	g.237336433A>T	CA431702498	COL6A3	c.1312T>A c.8049T>A (p.Pro2683=) c.794T>A n.934T>A c.8667T>A (p.Pro2889=) c.6843T>A (p.Pro2281=) c.6846T>A (p.Pro2282=) n.5109T>A c.8067T>A (p.Pro2689=) c.7446T>A (p.Pro2482=) c.8166T>A (p.Pro2722=) c.8664T>A (p.Pro2888=) c.6261T>A (p.Pro2087=)
2	g.237336434G>A	CA351191885	COL6A3	c.1311C>T c.8048C>T (p.Pro2683Leu) c.793C>T n.933C>T c.8666C>T (p.Pro2889Leu) c.6842C>T (p.Pro2281Leu) c.6845C>T (p.Pro2282Leu) n.5108C>T c.8066C>T (p.Pro2689Leu) c.7445C>T (p.Pro2482Leu) c.8165C>T (p.Pro2722Leu) c.8663C>T (p.Pro2888Leu) c.6260C>T (p.Pro2087Leu)	dbSNP
2	g.237336434G>C	CA351191886	COL6A3	c.1311C>G c.8048C>G (p.Pro2683Arg) c.793C>G n.933C>G c.8666C>G (p.Pro2889Arg) c.6842C>G (p.Pro2281Arg) c.6845C>G (p.Pro2282Arg) n.5108C>G c.8066C>G (p.Pro2689Arg) c.7445C>G (p.Pro2482Arg) c.8165C>G (p.Pro2722Arg) c.8663C>G (p.Pro2888Arg) c.6260C>G (p.Pro2087Arg)
2	g.237336434G=	CA1337607197	COL6A3	c.1311C= c.8048C= (p.Pro2683=) c.793C= n.933C= c.8666C= (p.Pro2889=) c.6842C= (p.Pro2281=) c.6845C= (p.Pro2282=) n.5108C= c.8066C= (p.Pro2689=) c.7445C= (p.Pro2482=) c.8165C= (p.Pro2722=) c.8663C= (p.Pro2888=) c.6260C= (p.Pro2087=)
2	g.237336434G>T	CA351191887	COL6A3	c.1311C>A c.8048C>A (p.Pro2683His) c.793C>A n.933C>A c.8666C>A (p.Pro2889His) c.6842C>A (p.Pro2281His) c.6845C>A (p.Pro2282His) n.5108C>A c.8066C>A (p.Pro2689His) c.7445C>A (p.Pro2482His) c.8165C>A (p.Pro2722His) c.8663C>A (p.Pro2888His) c.6260C>A (p.Pro2087His)
2	g.237336439_237336459dup	CA2187470	COL6A3	c.1291_1311dup c.8028_8048dup (p.Pro2683_Val2684insValThrThrThrThrLysPro) c.773_793dup n.913_933dup c.8646_8666dup (p.Pro2889_Val2890insValThrThrThrThrLysPro) c.6822_6842dup (p.Pro2281_Val2282insValThrThrThrThrLysPro) c.6825_6845dup (p.Pro2282_Val2283insValThrThrThrThrLysPro) n.5088_5108dup c.8046_8066dup (p.Pro2689_Val2690insValThrThrThrThrLysPro) c.7425_7445dup (p.Pro2482_Val2483insValThrThrThrThrLysPro) c.8145_8165dup (p.Pro2722_Val2723insValThrThrThrThrLysPro) c.8643_8663dup (p.Pro2888_Val2889insValThrThrThrThrLysPro) c.6240_6260dup (p.Pro2087_Val2088insValThrThrThrThrLysPro)	dbSNP ExAC gnomAD v2
2	g.237336435G>A	CA351191888	COL6A3	c.1310C>T c.8047C>T (p.Pro2683Ser) c.792C>T n.932C>T c.8665C>T (p.Pro2889Ser) c.6841C>T (p.Pro2281Ser) c.6844C>T (p.Pro2282Ser) n.5107C>T c.8065C>T (p.Pro2689Ser) c.7444C>T (p.Pro2482Ser) c.8164C>T (p.Pro2722Ser) c.8662C>T (p.Pro2888Ser) c.6259C>T (p.Pro2087Ser)	dbSNP gnomAD v4
2	g.237336435G>C	CA351191889	COL6A3	c.1310C>G c.8047C>G (p.Pro2683Ala) c.792C>G n.932C>G c.8665C>G (p.Pro2889Ala) c.6841C>G (p.Pro2281Ala) c.6844C>G (p.Pro2282Ala) n.5107C>G c.8065C>G (p.Pro2689Ala) c.7444C>G (p.Pro2482Ala) c.8164C>G (p.Pro2722Ala) c.8662C>G (p.Pro2888Ala) c.6259C>G (p.Pro2087Ala)
2	g.237336435G=	CA1337607198	COL6A3	c.1310C= c.8047C= (p.Pro2683=) c.792C= n.932C= c.8665C= (p.Pro2889=) c.6841C= (p.Pro2281=) c.6844C= (p.Pro2282=) n.5107C= c.8065C= (p.Pro2689=) c.7444C= (p.Pro2482=) c.8164C= (p.Pro2722=) c.8662C= (p.Pro2888=) c.6259C= (p.Pro2087=)
2	g.237336435G>T	CA351191890	COL6A3	c.1310C>A c.8047C>A (p.Pro2683Thr) c.792C>A n.932C>A c.8665C>A (p.Pro2889Thr) c.6841C>A (p.Pro2281Thr) c.6844C>A (p.Pro2282Thr) n.5107C>A c.8065C>A (p.Pro2689Thr) c.7444C>A (p.Pro2482Thr) c.8164C>A (p.Pro2722Thr) c.8662C>A (p.Pro2888Thr) c.6259C>A (p.Pro2087Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336436C>A	CA351191891	COL6A3	c.1309G>T c.8046G>T (p.Lys2682Asn) c.791G>T n.931G>T c.8664G>T (p.Lys2888Asn) c.6840G>T (p.Lys2280Asn) c.6843G>T (p.Lys2281Asn) n.5106G>T c.8064G>T (p.Lys2688Asn) c.7443G>T (p.Lys2481Asn) c.8163G>T (p.Lys2721Asn) c.8661G>T (p.Lys2887Asn) c.6258G>T (p.Lys2086Asn)	gnomAD v4
2	g.237336436C>G	CA351191892	COL6A3	c.1309G>C c.8046G>C (p.Lys2682Asn) c.791G>C n.931G>C c.8664G>C (p.Lys2888Asn) c.6840G>C (p.Lys2280Asn) c.6843G>C (p.Lys2281Asn) n.5106G>C c.8064G>C (p.Lys2688Asn) c.7443G>C (p.Lys2481Asn) c.8163G>C (p.Lys2721Asn) c.8661G>C (p.Lys2887Asn) c.6258G>C (p.Lys2086Asn)
2	g.237336436C>T	CA431702499	COL6A3	c.1309G>A c.8046G>A (p.Lys2682=) c.791G>A n.931G>A c.8664G>A (p.Lys2888=) c.6840G>A (p.Lys2280=) c.6843G>A (p.Lys2281=) n.5106G>A c.8064G>A (p.Lys2688=) c.7443G>A (p.Lys2481=) c.8163G>A (p.Lys2721=) c.8661G>A (p.Lys2887=) c.6258G>A (p.Lys2086=)
2	g.237336437T>A	CA351191893	COL6A3	c.1308A>T c.8045A>T (p.Lys2682Met) c.790A>T n.930A>T c.8663A>T (p.Lys2888Met) c.6839A>T (p.Lys2280Met) c.6842A>T (p.Lys2281Met) n.5105A>T c.8063A>T (p.Lys2688Met) c.7442A>T (p.Lys2481Met) c.8162A>T (p.Lys2721Met) c.8660A>T (p.Lys2887Met) c.6257A>T (p.Lys2086Met)
2	g.237336437T>C	CA351191894	COL6A3	c.1308A>G c.8045A>G (p.Lys2682Arg) c.790A>G n.930A>G c.8663A>G (p.Lys2888Arg) c.6839A>G (p.Lys2280Arg) c.6842A>G (p.Lys2281Arg) n.5105A>G c.8063A>G (p.Lys2688Arg) c.7442A>G (p.Lys2481Arg) c.8162A>G (p.Lys2721Arg) c.8660A>G (p.Lys2887Arg) c.6257A>G (p.Lys2086Arg)
2	g.237336437T>G	CA351191895	COL6A3	c.1308A>C c.8045A>C (p.Lys2682Thr) c.790A>C n.930A>C c.8663A>C (p.Lys2888Thr) c.6839A>C (p.Lys2280Thr) c.6842A>C (p.Lys2281Thr) n.5105A>C c.8063A>C (p.Lys2688Thr) c.7442A>C (p.Lys2481Thr) c.8162A>C (p.Lys2721Thr) c.8660A>C (p.Lys2887Thr) c.6257A>C (p.Lys2086Thr)
2	g.237336438T>A	CA351191898	COL6A3	c.1307A>T c.8044A>T (p.Lys2682Ter) c.789A>T n.929A>T c.8662A>T (p.Lys2888Ter) c.6838A>T (p.Lys2280Ter) c.6841A>T (p.Lys2281Ter) n.5104A>T c.8062A>T (p.Lys2688Ter) c.7441A>T (p.Lys2481Ter) c.8161A>T (p.Lys2721Ter) c.8659A>T (p.Lys2887Ter) c.6256A>T (p.Lys2086Ter)
2	g.237336438T>C	CA351191897	COL6A3	c.1307A>G c.8044A>G (p.Lys2682Glu) c.789A>G n.929A>G c.8662A>G (p.Lys2888Glu) c.6838A>G (p.Lys2280Glu) c.6841A>G (p.Lys2281Glu) n.5104A>G c.8062A>G (p.Lys2688Glu) c.7441A>G (p.Lys2481Glu) c.8161A>G (p.Lys2721Glu) c.8659A>G (p.Lys2887Glu) c.6256A>G (p.Lys2086Glu)
2	g.237336438T>G	CA351191896	COL6A3	c.1307A>C c.8044A>C (p.Lys2682Gln) c.789A>C n.929A>C c.8662A>C (p.Lys2888Gln) c.6838A>C (p.Lys2280Gln) c.6841A>C (p.Lys2281Gln) n.5104A>C c.8062A>C (p.Lys2688Gln) c.7441A>C (p.Lys2481Gln) c.8161A>C (p.Lys2721Gln) c.8659A>C (p.Lys2887Gln) c.6256A>C (p.Lys2086Gln)
2	g.237336438_237336439insGGGGG	CA2754786758	COL6A3	c.1306_1307insCCCCC c.8043_8044insCCCCC (p.Lys2682ProfsTer5) c.788_789insCCCCC n.928_929insCCCCC c.8661_8662insCCCCC (p.Lys2888ProfsTer5) c.6837_6838insCCCCC (p.Lys2280ProfsTer5) c.6840_6841insCCCCC (p.Lys2281ProfsTer5) n.5103_5104insCCCCC c.8061_8062insCCCCC (p.Lys2688ProfsTer5) c.7440_7441insCCCCC (p.Lys2481ProfsTer5) c.8160_8161insCCCCC (p.Lys2721ProfsTer5) c.8658_8659insCCCCC (p.Lys2887ProfsTer5) c.6255_6256insCCCCC (p.Lys2086ProfsTer5)
2	g.237336439T>A	CA431702508	COL6A3	c.1306A>T c.8043A>T (p.Thr2681=) c.788A>T n.928A>T c.8661A>T (p.Thr2887=) c.6837A>T (p.Thr2279=) c.6840A>T (p.Thr2280=) n.5103A>T c.8061A>T (p.Thr2687=) c.7440A>T (p.Thr2480=) c.8160A>T (p.Thr2720=) c.8658A>T (p.Thr2886=) c.6255A>T (p.Thr2085=)
2	g.237336439T>C	CA431702509	COL6A3	c.1306A>G c.8043A>G (p.Thr2681=) c.788A>G n.928A>G c.8661A>G (p.Thr2887=) c.6837A>G (p.Thr2279=) c.6840A>G (p.Thr2280=) n.5103A>G c.8061A>G (p.Thr2687=) c.7440A>G (p.Thr2480=) c.8160A>G (p.Thr2720=) c.8658A>G (p.Thr2886=) c.6255A>G (p.Thr2085=)
2	g.237336439T>G	CA431702511	COL6A3	c.1306A>C c.8043A>C (p.Thr2681=) c.788A>C n.928A>C c.8661A>C (p.Thr2887=) c.6837A>C (p.Thr2279=) c.6840A>C (p.Thr2280=) n.5103A>C c.8061A>C (p.Thr2687=) c.7440A>C (p.Thr2480=) c.8160A>C (p.Thr2720=) c.8658A>C (p.Thr2886=) c.6255A>C (p.Thr2085=)
2	g.237336440G>A	CA2187471	COL6A3	c.1305C>T c.8042C>T (p.Thr2681Ile) c.787C>T n.927C>T c.8660C>T (p.Thr2887Ile) c.6836C>T (p.Thr2279Ile) c.6839C>T (p.Thr2280Ile) n.5102C>T c.8060C>T (p.Thr2687Ile) c.7439C>T (p.Thr2480Ile) c.8159C>T (p.Thr2720Ile) c.8657C>T (p.Thr2886Ile) c.6254C>T (p.Thr2085Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336440G>C	CA351191899	COL6A3	c.1305C>G c.8042C>G (p.Thr2681Arg) c.787C>G n.927C>G c.8660C>G (p.Thr2887Arg) c.6836C>G (p.Thr2279Arg) c.6839C>G (p.Thr2280Arg) n.5102C>G c.8060C>G (p.Thr2687Arg) c.7439C>G (p.Thr2480Arg) c.8159C>G (p.Thr2720Arg) c.8657C>G (p.Thr2886Arg) c.6254C>G (p.Thr2085Arg)
2	g.237336440G=	CA1337607199	COL6A3	c.1305C= c.8042C= (p.Thr2681=) c.787C= n.927C= c.8660C= (p.Thr2887=) c.6836C= (p.Thr2279=) c.6839C= (p.Thr2280=) n.5102C= c.8060C= (p.Thr2687=) c.7439C= (p.Thr2480=) c.8159C= (p.Thr2720=) c.8657C= (p.Thr2886=) c.6254C= (p.Thr2085=)
2	g.237336440G>T	CA351191900	COL6A3	c.1305C>A c.8042C>A (p.Thr2681Lys) c.787C>A n.927C>A c.8660C>A (p.Thr2887Lys) c.6836C>A (p.Thr2279Lys) c.6839C>A (p.Thr2280Lys) n.5102C>A c.8060C>A (p.Thr2687Lys) c.7439C>A (p.Thr2480Lys) c.8159C>A (p.Thr2720Lys) c.8657C>A (p.Thr2886Lys) c.6254C>A (p.Thr2085Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336441T>A	CA351191901	COL6A3	c.1304A>T c.8041A>T (p.Thr2681Ser) c.786A>T n.926A>T c.8659A>T (p.Thr2887Ser) c.6835A>T (p.Thr2279Ser) c.6838A>T (p.Thr2280Ser) n.5101A>T c.8059A>T (p.Thr2687Ser) c.7438A>T (p.Thr2480Ser) c.8158A>T (p.Thr2720Ser) c.8656A>T (p.Thr2886Ser) c.6253A>T (p.Thr2085Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.237336441T>C	CA351191902	COL6A3	c.1304A>G c.8041A>G (p.Thr2681Ala) c.786A>G n.926A>G c.8659A>G (p.Thr2887Ala) c.6835A>G (p.Thr2279Ala) c.6838A>G (p.Thr2280Ala) n.5101A>G c.8059A>G (p.Thr2687Ala) c.7438A>G (p.Thr2480Ala) c.8158A>G (p.Thr2720Ala) c.8656A>G (p.Thr2886Ala) c.6253A>G (p.Thr2085Ala)
2	g.237336441T>G	CA351191903	COL6A3	c.1304A>C c.8041A>C (p.Thr2681Pro) c.786A>C n.926A>C c.8659A>C (p.Thr2887Pro) c.6835A>C (p.Thr2279Pro) c.6838A>C (p.Thr2280Pro) n.5101A>C c.8059A>C (p.Thr2687Pro) c.7438A>C (p.Thr2480Pro) c.8158A>C (p.Thr2720Pro) c.8656A>C (p.Thr2886Pro) c.6253A>C (p.Thr2085Pro)
2	g.237336441T=	CA1337607200	COL6A3	c.1304A= c.8041A= (p.Thr2681=) c.786A= n.926A= c.8659A= (p.Thr2887=) c.6835A= (p.Thr2279=) c.6838A= (p.Thr2280=) n.5101A= c.8059A= (p.Thr2687=) c.7438A= (p.Thr2480=) c.8158A= (p.Thr2720=) c.8656A= (p.Thr2886=) c.6253A= (p.Thr2085=)
2	g.237336442T>A	CA431702523	COL6A3	c.1303A>T c.8040A>T (p.Thr2680=) c.785A>T n.925A>T c.8658A>T (p.Thr2886=) c.6834A>T (p.Thr2278=) c.6837A>T (p.Thr2279=) n.5100A>T c.8058A>T (p.Thr2686=) c.7437A>T (p.Thr2479=) c.8157A>T (p.Thr2719=) c.8655A>T (p.Thr2885=) c.6252A>T (p.Thr2084=)
2	g.237336442T>C	CA431702525	COL6A3	c.1303A>G c.8040A>G (p.Thr2680=) c.785A>G n.925A>G c.8658A>G (p.Thr2886=) c.6834A>G (p.Thr2278=) c.6837A>G (p.Thr2279=) n.5100A>G c.8058A>G (p.Thr2686=) c.7437A>G (p.Thr2479=) c.8157A>G (p.Thr2719=) c.8655A>G (p.Thr2885=) c.6252A>G (p.Thr2084=)
2	g.237336442T>G	CA431702527	COL6A3	c.1303A>C c.8040A>C (p.Thr2680=) c.785A>C n.925A>C c.8658A>C (p.Thr2886=) c.6834A>C (p.Thr2278=) c.6837A>C (p.Thr2279=) n.5100A>C c.8058A>C (p.Thr2686=) c.7437A>C (p.Thr2479=) c.8157A>C (p.Thr2719=) c.8655A>C (p.Thr2885=) c.6252A>C (p.Thr2084=)
2	g.237336443G>A	CA2187472	COL6A3	c.1302C>T c.8039C>T (p.Thr2680Ile) c.784C>T n.924C>T c.8657C>T (p.Thr2886Ile) c.6833C>T (p.Thr2278Ile) c.6836C>T (p.Thr2279Ile) n.5099C>T c.8057C>T (p.Thr2686Ile) c.7436C>T (p.Thr2479Ile) c.8156C>T (p.Thr2719Ile) c.8654C>T (p.Thr2885Ile) c.6251C>T (p.Thr2084Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336443G>C	CA351191904	COL6A3	c.1302C>G c.8039C>G (p.Thr2680Arg) c.784C>G n.924C>G c.8657C>G (p.Thr2886Arg) c.6833C>G (p.Thr2278Arg) c.6836C>G (p.Thr2279Arg) n.5099C>G c.8057C>G (p.Thr2686Arg) c.7436C>G (p.Thr2479Arg) c.8156C>G (p.Thr2719Arg) c.8654C>G (p.Thr2885Arg) c.6251C>G (p.Thr2084Arg)
2	g.237336443G=	CA1337607201	COL6A3	c.1302C= c.8039C= (p.Thr2680=) c.784C= n.924C= c.8657C= (p.Thr2886=) c.6833C= (p.Thr2278=) c.6836C= (p.Thr2279=) n.5099C= c.8057C= (p.Thr2686=) c.7436C= (p.Thr2479=) c.8156C= (p.Thr2719=) c.8654C= (p.Thr2885=) c.6251C= (p.Thr2084=)
2	g.237336443G>T	CA351191905	COL6A3	c.1302C>A c.8039C>A (p.Thr2680Lys) c.784C>A n.924C>A c.8657C>A (p.Thr2886Lys) c.6833C>A (p.Thr2278Lys) c.6836C>A (p.Thr2279Lys) n.5099C>A c.8057C>A (p.Thr2686Lys) c.7436C>A (p.Thr2479Lys) c.8156C>A (p.Thr2719Lys) c.8654C>A (p.Thr2885Lys) c.6251C>A (p.Thr2084Lys)	dbSNP
2	g.237336444T>A	CA351191906	COL6A3	c.1301A>T c.8038A>T (p.Thr2680Ser) c.783A>T n.923A>T c.8656A>T (p.Thr2886Ser) c.6832A>T (p.Thr2278Ser) c.6835A>T (p.Thr2279Ser) n.5098A>T c.8056A>T (p.Thr2686Ser) c.7435A>T (p.Thr2479Ser) c.8155A>T (p.Thr2719Ser) c.8653A>T (p.Thr2885Ser) c.6250A>T (p.Thr2084Ser)
2	g.237336444T>C	CA351191907	COL6A3	c.1301A>G c.8038A>G (p.Thr2680Ala) c.783A>G n.923A>G c.8656A>G (p.Thr2886Ala) c.6832A>G (p.Thr2278Ala) c.6835A>G (p.Thr2279Ala) n.5098A>G c.8056A>G (p.Thr2686Ala) c.7435A>G (p.Thr2479Ala) c.8155A>G (p.Thr2719Ala) c.8653A>G (p.Thr2885Ala) c.6250A>G (p.Thr2084Ala)
2	g.237336444T>G	CA351191908	COL6A3	c.1301A>C c.8038A>C (p.Thr2680Pro) c.783A>C n.923A>C c.8656A>C (p.Thr2886Pro) c.6832A>C (p.Thr2278Pro) c.6835A>C (p.Thr2279Pro) n.5098A>C c.8056A>C (p.Thr2686Pro) c.7435A>C (p.Thr2479Pro) c.8155A>C (p.Thr2719Pro) c.8653A>C (p.Thr2885Pro) c.6250A>C (p.Thr2084Pro)
2	g.237336445G>A	CA431702537	COL6A3	c.1300C>T c.8037C>T (p.Thr2679=) c.782C>T n.922C>T c.8655C>T (p.Thr2885=) c.6831C>T (p.Thr2277=) c.6834C>T (p.Thr2278=) n.5097C>T c.8055C>T (p.Thr2685=) c.7434C>T (p.Thr2478=) c.8154C>T (p.Thr2718=) c.8652C>T (p.Thr2884=) c.6249C>T (p.Thr2083=)	dbSNP gnomAD v2 gnomAD v4
2	g.237336445G>C	CA431702539	COL6A3	c.1300C>G c.8037C>G (p.Thr2679=) c.782C>G n.922C>G c.8655C>G (p.Thr2885=) c.6831C>G (p.Thr2277=) c.6834C>G (p.Thr2278=) n.5097C>G c.8055C>G (p.Thr2685=) c.7434C>G (p.Thr2478=) c.8154C>G (p.Thr2718=) c.8652C>G (p.Thr2884=) c.6249C>G (p.Thr2083=)
2	g.237336445G=	CA1337607202	COL6A3	c.1300C= c.8037C= (p.Thr2679=) c.782C= n.922C= c.8655C= (p.Thr2885=) c.6831C= (p.Thr2277=) c.6834C= (p.Thr2278=) n.5097C= c.8055C= (p.Thr2685=) c.7434C= (p.Thr2478=) c.8154C= (p.Thr2718=) c.8652C= (p.Thr2884=) c.6249C= (p.Thr2083=)
2	g.237336445G>T	CA431702541	COL6A3	c.1300C>A c.8037C>A (p.Thr2679=) c.782C>A n.922C>A c.8655C>A (p.Thr2885=) c.6831C>A (p.Thr2277=) c.6834C>A (p.Thr2278=) n.5097C>A c.8055C>A (p.Thr2685=) c.7434C>A (p.Thr2478=) c.8154C>A (p.Thr2718=) c.8652C>A (p.Thr2884=) c.6249C>A (p.Thr2083=)
2	g.237336445_237336463delinsGGTGGTCACCGGCTTCGTC	CA1337607203	COL6A3	c.1282_1300delinsGACGAAGCCGGTGACCACC c.8019_8037delinsGACGAAGCCGGTGACCACC (p.Thr2673=) c.764_782delinsGACGAAGCCGGTGACCACC n.904_922delinsGACGAAGCCGGTGACCACC c.8637_8655delinsGACGAAGCCGGTGACCACC (p.Thr2879=) c.6813_6831delinsGACGAAGCCGGTGACCACC (p.Thr2271=) c.6816_6834delinsGACGAAGCCGGTGACCACC (p.Thr2272=) n.5079_5097delinsGACGAAGCCGGTGACCACC c.8037_8055delinsGACGAAGCCGGTGACCACC (p.Thr2679=) c.7416_7434delinsGACGAAGCCGGTGACCACC (p.Thr2472=) c.8136_8154delinsGACGAAGCCGGTGACCACC (p.Thr2712=) c.8634_8652delinsGACGAAGCCGGTGACCACC (p.Thr2878=) c.6231_6249delinsGACGAAGCCGGTGACCACC (p.Thr2077=)
2	g.237336445_237336446insTTGGGT	CA2754786760	COL6A3	c.1299_1300insACCCAA c.8036_8037insACCCAA (p.Thr2679_Thr2680insProAsn) c.781_782insACCCAA n.921_922insACCCAA c.8654_8655insACCCAA (p.Thr2885_Thr2886insProAsn) c.6830_6831insACCCAA (p.Thr2277_Thr2278insProAsn) c.6833_6834insACCCAA (p.Thr2278_Thr2279insProAsn) n.5096_5097insACCCAA c.8054_8055insACCCAA (p.Thr2685_Thr2686insProAsn) c.7433_7434insACCCAA (p.Thr2478_Thr2479insProAsn) c.8153_8154insACCCAA (p.Thr2718_Thr2719insProAsn) c.8651_8652insACCCAA (p.Thr2884_Thr2885insProAsn) c.6248_6249insACCCAA (p.Thr2083_Thr2084insProAsn)
2	g.237336446G>A	CA351191911	COL6A3	c.1299C>T c.8036C>T (p.Thr2679Ile) c.781C>T n.921C>T c.8654C>T (p.Thr2885Ile) c.6830C>T (p.Thr2277Ile) c.6833C>T (p.Thr2278Ile) n.5096C>T c.8054C>T (p.Thr2685Ile) c.7433C>T (p.Thr2478Ile) c.8153C>T (p.Thr2718Ile) c.8651C>T (p.Thr2884Ile) c.6248C>T (p.Thr2083Ile)	gnomAD v4
2	g.237336446G>C	CA351191910	COL6A3	c.1299C>G c.8036C>G (p.Thr2679Ser) c.781C>G n.921C>G c.8654C>G (p.Thr2885Ser) c.6830C>G (p.Thr2277Ser) c.6833C>G (p.Thr2278Ser) n.5096C>G c.8054C>G (p.Thr2685Ser) c.7433C>G (p.Thr2478Ser) c.8153C>G (p.Thr2718Ser) c.8651C>G (p.Thr2884Ser) c.6248C>G (p.Thr2083Ser)
2	g.237336446G>T	CA351191909	COL6A3	c.1299C>A c.8036C>A (p.Thr2679Asn) c.781C>A n.921C>A c.8654C>A (p.Thr2885Asn) c.6830C>A (p.Thr2277Asn) c.6833C>A (p.Thr2278Asn) n.5096C>A c.8054C>A (p.Thr2685Asn) c.7433C>A (p.Thr2478Asn) c.8153C>A (p.Thr2718Asn) c.8651C>A (p.Thr2884Asn) c.6248C>A (p.Thr2083Asn)
2	g.237336448_237336465dup	CA540749778	COL6A3	c.1282_1299dup c.8019_8036dup (p.Thr2679_Thr2680insThrLysProValThrThr) c.764_781dup n.904_921dup c.8637_8654dup (p.Thr2885_Thr2886insThrLysProValThrThr) c.6813_6830dup (p.Thr2277_Thr2278insThrLysProValThrThr) c.6816_6833dup (p.Thr2278_Thr2279insThrLysProValThrThr) n.5079_5096dup c.8037_8054dup (p.Thr2685_Thr2686insThrLysProValThrThr) c.7416_7433dup (p.Thr2478_Thr2479insThrLysProValThrThr) c.8136_8153dup (p.Thr2718_Thr2719insThrLysProValThrThr) c.8634_8651dup (p.Thr2884_Thr2885insThrLysProValThrThr) c.6231_6248dup (p.Thr2083_Thr2084insThrLysProValThrThr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336448_237336465del	CA766623425	COL6A3	c.1282_1299del c.8019_8036del (p.Thr2674_Thr2679del) c.764_781del n.904_921del c.8637_8654del (p.Thr2880_Thr2885del) c.6813_6830del (p.Thr2272_Thr2277del) c.6816_6833del (p.Thr2273_Thr2278del) n.5079_5096del c.8037_8054del (p.Thr2680_Thr2685del) c.7416_7433del (p.Thr2473_Thr2478del) c.8136_8153del (p.Thr2713_Thr2718del) c.8634_8651del (p.Thr2879_Thr2884del) c.6231_6248del (p.Thr2078_Thr2083del)	dbSNP
2	g.237336447T>A	CA351191912	COL6A3	c.1298A>T c.8035A>T (p.Thr2679Ser) c.780A>T n.920A>T c.8653A>T (p.Thr2885Ser) c.6829A>T (p.Thr2277Ser) c.6832A>T (p.Thr2278Ser) n.5095A>T c.8053A>T (p.Thr2685Ser) c.7432A>T (p.Thr2478Ser) c.8152A>T (p.Thr2718Ser) c.8650A>T (p.Thr2884Ser) c.6247A>T (p.Thr2083Ser)
2	g.237336447T>C	CA351191914	COL6A3	c.1298A>G c.8035A>G (p.Thr2679Ala) c.780A>G n.920A>G c.8653A>G (p.Thr2885Ala) c.6829A>G (p.Thr2277Ala) c.6832A>G (p.Thr2278Ala) n.5095A>G c.8053A>G (p.Thr2685Ala) c.7432A>G (p.Thr2478Ala) c.8152A>G (p.Thr2718Ala) c.8650A>G (p.Thr2884Ala) c.6247A>G (p.Thr2083Ala)	gnomAD v4
2	g.237336447T>G	CA351191913	COL6A3	c.1298A>C c.8035A>C (p.Thr2679Pro) c.780A>C n.920A>C c.8653A>C (p.Thr2885Pro) c.6829A>C (p.Thr2277Pro) c.6832A>C (p.Thr2278Pro) n.5095A>C c.8053A>C (p.Thr2685Pro) c.7432A>C (p.Thr2478Pro) c.8152A>C (p.Thr2718Pro) c.8650A>C (p.Thr2884Pro) c.6247A>C (p.Thr2083Pro)	COSMIC
2	g.237336448G>A	CA431702553	COL6A3	c.1297C>T c.8034C>T (p.Thr2678=) c.779C>T n.919C>T c.8652C>T (p.Thr2884=) c.6828C>T (p.Thr2276=) c.6831C>T (p.Thr2277=) n.5094C>T c.8052C>T (p.Thr2684=) c.7431C>T (p.Thr2477=) c.8151C>T (p.Thr2717=) c.8649C>T (p.Thr2883=) c.6246C>T (p.Thr2082=)	ClinVar
2	g.237336448G>C	CA431702556	COL6A3	c.1297C>G c.8034C>G (p.Thr2678=) c.779C>G n.919C>G c.8652C>G (p.Thr2884=) c.6828C>G (p.Thr2276=) c.6831C>G (p.Thr2277=) n.5094C>G c.8052C>G (p.Thr2684=) c.7431C>G (p.Thr2477=) c.8151C>G (p.Thr2717=) c.8649C>G (p.Thr2883=) c.6246C>G (p.Thr2082=)
2	g.237336448G>T	CA431702554	COL6A3	c.1297C>A c.8034C>A (p.Thr2678=) c.779C>A n.919C>A c.8652C>A (p.Thr2884=) c.6828C>A (p.Thr2276=) c.6831C>A (p.Thr2277=) n.5094C>A c.8052C>A (p.Thr2684=) c.7431C>A (p.Thr2477=) c.8151C>A (p.Thr2717=) c.8649C>A (p.Thr2883=) c.6246C>A (p.Thr2082=)
2	g.237336448_237336466delinsGGTCACCGGCTTCGTCGTA	CA1337607204	COL6A3	c.1279_1297delinsTACGACGAAGCCGGTGACC c.8016_8034delinsTACGACGAAGCCGGTGACC (p.Thr2672=) c.761_779delinsTACGACGAAGCCGGTGACC n.901_919delinsTACGACGAAGCCGGTGACC c.8634_8652delinsTACGACGAAGCCGGTGACC (p.Thr2878=) c.6810_6828delinsTACGACGAAGCCGGTGACC (p.Thr2270=) c.6813_6831delinsTACGACGAAGCCGGTGACC (p.Thr2271=) n.5076_5094delinsTACGACGAAGCCGGTGACC c.8034_8052delinsTACGACGAAGCCGGTGACC (p.Thr2678=) c.7413_7431delinsTACGACGAAGCCGGTGACC (p.Thr2471=) c.8133_8151delinsTACGACGAAGCCGGTGACC (p.Thr2711=) c.8631_8649delinsTACGACGAAGCCGGTGACC (p.Thr2877=) c.6228_6246delinsTACGACGAAGCCGGTGACC (p.Thr2076=)
2	g.237336449G>A	CA2187474	COL6A3	c.1296C>T c.8033C>T (p.Thr2678Ile) c.778C>T n.918C>T c.8651C>T (p.Thr2884Ile) c.6827C>T (p.Thr2276Ile) c.6830C>T (p.Thr2277Ile) n.5093C>T c.8051C>T (p.Thr2684Ile) c.7430C>T (p.Thr2477Ile) c.8150C>T (p.Thr2717Ile) c.8648C>T (p.Thr2883Ile) c.6245C>T (p.Thr2082Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336449G>C	CA351191915	COL6A3	c.1296C>G c.8033C>G (p.Thr2678Ser) c.778C>G n.918C>G c.8651C>G (p.Thr2884Ser) c.6827C>G (p.Thr2276Ser) c.6830C>G (p.Thr2277Ser) n.5093C>G c.8051C>G (p.Thr2684Ser) c.7430C>G (p.Thr2477Ser) c.8150C>G (p.Thr2717Ser) c.8648C>G (p.Thr2883Ser) c.6245C>G (p.Thr2082Ser)
2	g.237336449G=	CA1337607205	COL6A3	c.1296C= c.8033C= (p.Thr2678=) c.778C= n.918C= c.8651C= (p.Thr2884=) c.6827C= (p.Thr2276=) c.6830C= (p.Thr2277=) n.5093C= c.8051C= (p.Thr2684=) c.7430C= (p.Thr2477=) c.8150C= (p.Thr2717=) c.8648C= (p.Thr2883=) c.6245C= (p.Thr2082=)
2	g.237336449G>T	CA351191916	COL6A3	c.1296C>A c.8033C>A (p.Thr2678Asn) c.778C>A n.918C>A c.8651C>A (p.Thr2884Asn) c.6827C>A (p.Thr2276Asn) c.6830C>A (p.Thr2277Asn) n.5093C>A c.8051C>A (p.Thr2684Asn) c.7430C>A (p.Thr2477Asn) c.8150C>A (p.Thr2717Asn) c.8648C>A (p.Thr2883Asn) c.6245C>A (p.Thr2082Asn)
2	g.237336463_237336480del	CA2187473	COL6A3	c.1279_1296del c.8016_8033del (p.Thr2673_Thr2678del) c.761_778del n.901_918del c.8634_8651del (p.Thr2879_Thr2884del) c.6810_6827del (p.Thr2271_Thr2276del) c.6813_6830del (p.Thr2272_Thr2277del) n.5076_5093del c.8034_8051del (p.Thr2679_Thr2684del) c.7413_7430del (p.Thr2472_Thr2477del) c.8133_8150del (p.Thr2712_Thr2717del) c.8631_8648del (p.Thr2878_Thr2883del) c.6228_6245del (p.Thr2077_Thr2082del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336449_237336450insGTGTGT	CA2754786762	COL6A3	c.1295_1296insACACAC c.8032_8033insACACAC (p.Thr2678delinsAsnThrPro) c.777_778insACACAC n.917_918insACACAC c.8650_8651insACACAC (p.Thr2884delinsAsnThrPro) c.6826_6827insACACAC (p.Thr2276delinsAsnThrPro) c.6829_6830insACACAC (p.Thr2277delinsAsnThrPro) n.5092_5093insACACAC c.8050_8051insACACAC (p.Thr2684delinsAsnThrPro) c.7429_7430insACACAC (p.Thr2477delinsAsnThrPro) c.8149_8150insACACAC (p.Thr2717delinsAsnThrPro) c.8647_8648insACACAC (p.Thr2883delinsAsnThrPro) c.6244_6245insACACAC (p.Thr2082delinsAsnThrPro)
2	g.237336450T>A	CA351191917	COL6A3	c.1295A>T c.8032A>T (p.Thr2678Ser) c.777A>T n.917A>T c.8650A>T (p.Thr2884Ser) c.6826A>T (p.Thr2276Ser) c.6829A>T (p.Thr2277Ser) n.5092A>T c.8050A>T (p.Thr2684Ser) c.7429A>T (p.Thr2477Ser) c.8149A>T (p.Thr2717Ser) c.8647A>T (p.Thr2883Ser) c.6244A>T (p.Thr2082Ser)
2	g.237336450T>C	CA351191918	COL6A3	c.1295A>G c.8032A>G (p.Thr2678Ala) c.777A>G n.917A>G c.8650A>G (p.Thr2884Ala) c.6826A>G (p.Thr2276Ala) c.6829A>G (p.Thr2277Ala) n.5092A>G c.8050A>G (p.Thr2684Ala) c.7429A>G (p.Thr2477Ala) c.8149A>G (p.Thr2717Ala) c.8647A>G (p.Thr2883Ala) c.6244A>G (p.Thr2082Ala)	gnomAD v4
2	g.237336450T>G	CA351191919	COL6A3	c.1295A>C c.8032A>C (p.Thr2678Pro) c.777A>C n.917A>C c.8650A>C (p.Thr2884Pro) c.6826A>C (p.Thr2276Pro) c.6829A>C (p.Thr2277Pro) n.5092A>C c.8050A>C (p.Thr2684Pro) c.7429A>C (p.Thr2477Pro) c.8149A>C (p.Thr2717Pro) c.8647A>C (p.Thr2883Pro) c.6244A>C (p.Thr2082Pro)	dbSNP
2	g.237336450T=	CA1337607206	COL6A3	c.1295A= c.8032A= (p.Thr2678=) c.777A= n.917A= c.8650A= (p.Thr2884=) c.6826A= (p.Thr2276=) c.6829A= (p.Thr2277=) n.5092A= c.8050A= (p.Thr2684=) c.7429A= (p.Thr2477=) c.8149A= (p.Thr2717=) c.8647A= (p.Thr2883=) c.6244A= (p.Thr2082=)
2	g.237336451C>A	CA431674888	COL6A3	c.1294G>T c.8031G>T (p.Val2677=) c.776G>T n.916G>T c.8649G>T (p.Val2883=) c.6825G>T (p.Val2275=) c.6828G>T (p.Val2276=) n.5091G>T c.8049G>T (p.Val2683=) c.7428G>T (p.Val2476=) c.8148G>T (p.Val2716=) c.8646G>T (p.Val2882=) c.6243G>T (p.Val2081=)
2	g.237336451C=	CA1337607207	COL6A3	c.1294G= c.8031G= (p.Val2677=) c.776G= n.916G= c.8649G= (p.Val2883=) c.6825G= (p.Val2275=) c.6828G= (p.Val2276=) n.5091G= c.8049G= (p.Val2683=) c.7428G= (p.Val2476=) c.8148G= (p.Val2716=) c.8646G= (p.Val2882=) c.6243G= (p.Val2081=)
2	g.237336451C>G	CA431674889	COL6A3	c.1294G>C c.8031G>C (p.Val2677=) c.776G>C n.916G>C c.8649G>C (p.Val2883=) c.6825G>C (p.Val2275=) c.6828G>C (p.Val2276=) n.5091G>C c.8049G>C (p.Val2683=) c.7428G>C (p.Val2476=) c.8148G>C (p.Val2716=) c.8646G>C (p.Val2882=) c.6243G>C (p.Val2081=)
2	g.237336451C>T	CA431674890	COL6A3	c.1294G>A c.8031G>A (p.Val2677=) c.776G>A n.916G>A c.8649G>A (p.Val2883=) c.6825G>A (p.Val2275=) c.6828G>A (p.Val2276=) n.5091G>A c.8049G>A (p.Val2683=) c.7428G>A (p.Val2476=) c.8148G>A (p.Val2716=) c.8646G>A (p.Val2882=) c.6243G>A (p.Val2081=)	dbSNP
2	g.237336452A=	CA1337607208	COL6A3	c.1293T= c.8030T= (p.Val2677=) c.775T= n.915T= c.8648T= (p.Val2883=) c.6824T= (p.Val2275=) c.6827T= (p.Val2276=) n.5090T= c.8048T= (p.Val2683=) c.7427T= (p.Val2476=) c.8147T= (p.Val2716=) c.8645T= (p.Val2882=) c.6242T= (p.Val2081=)
2	g.237336452A>C	CA351191920	COL6A3	c.1293T>G c.8030T>G (p.Val2677Gly) c.775T>G n.915T>G c.8648T>G (p.Val2883Gly) c.6824T>G (p.Val2275Gly) c.6827T>G (p.Val2276Gly) n.5090T>G c.8048T>G (p.Val2683Gly) c.7427T>G (p.Val2476Gly) c.8147T>G (p.Val2716Gly) c.8645T>G (p.Val2882Gly) c.6242T>G (p.Val2081Gly)
2	g.237336452A>G	CA2187475	COL6A3	c.1293T>C c.8030T>C (p.Val2677Ala) c.775T>C n.915T>C c.8648T>C (p.Val2883Ala) c.6824T>C (p.Val2275Ala) c.6827T>C (p.Val2276Ala) n.5090T>C c.8048T>C (p.Val2683Ala) c.7427T>C (p.Val2476Ala) c.8147T>C (p.Val2716Ala) c.8645T>C (p.Val2882Ala) c.6242T>C (p.Val2081Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336452A>T	CA351191921	COL6A3	c.1293T>A c.8030T>A (p.Val2677Glu) c.775T>A n.915T>A c.8648T>A (p.Val2883Glu) c.6824T>A (p.Val2275Glu) c.6827T>A (p.Val2276Glu) n.5090T>A c.8048T>A (p.Val2683Glu) c.7427T>A (p.Val2476Glu) c.8147T>A (p.Val2716Glu) c.8645T>A (p.Val2882Glu) c.6242T>A (p.Val2081Glu)
2	g.237336453C>A	CA351191922	COL6A3	c.1292G>T c.8029G>T (p.Val2677Leu) c.774G>T n.914G>T c.8647G>T (p.Val2883Leu) c.6823G>T (p.Val2275Leu) c.6826G>T (p.Val2276Leu) n.5089G>T c.8047G>T (p.Val2683Leu) c.7426G>T (p.Val2476Leu) c.8146G>T (p.Val2716Leu) c.8644G>T (p.Val2882Leu) c.6241G>T (p.Val2081Leu)
2	g.237336453C>G	CA351191923	COL6A3	c.1292G>C c.8029G>C (p.Val2677Leu) c.774G>C n.914G>C c.8647G>C (p.Val2883Leu) c.6823G>C (p.Val2275Leu) c.6826G>C (p.Val2276Leu) n.5089G>C c.8047G>C (p.Val2683Leu) c.7426G>C (p.Val2476Leu) c.8146G>C (p.Val2716Leu) c.8644G>C (p.Val2882Leu) c.6241G>C (p.Val2081Leu)
2	g.237336453C>T	CA351191924	COL6A3	c.1292G>A c.8029G>A (p.Val2677Met) c.774G>A n.914G>A c.8647G>A (p.Val2883Met) c.6823G>A (p.Val2275Met) c.6826G>A (p.Val2276Met) n.5089G>A c.8047G>A (p.Val2683Met) c.7426G>A (p.Val2476Met) c.8146G>A (p.Val2716Met) c.8644G>A (p.Val2882Met) c.6241G>A (p.Val2081Met)
2	g.237336454C>A	CA2187477	COL6A3	c.1291G>T c.8028G>T (p.Pro2676=) c.773G>T n.913G>T c.8646G>T (p.Pro2882=) c.6822G>T (p.Pro2274=) c.6825G>T (p.Pro2275=) n.5088G>T c.8046G>T (p.Pro2682=) c.7425G>T (p.Pro2475=) c.8145G>T (p.Pro2715=) c.8643G>T (p.Pro2881=) c.6240G>T (p.Pro2080=)	dbSNP ExAC gnomAD v2
2	g.237336454C=	CA1337607209	COL6A3	c.1291G= c.8028G= (p.Pro2676=) c.773G= n.913G= c.8646G= (p.Pro2882=) c.6822G= (p.Pro2274=) c.6825G= (p.Pro2275=) n.5088G= c.8046G= (p.Pro2682=) c.7425G= (p.Pro2475=) c.8145G= (p.Pro2715=) c.8643G= (p.Pro2881=) c.6240G= (p.Pro2080=)
2	g.237336454C>G	CA431674891	COL6A3	c.1291G>C c.8028G>C (p.Pro2676=) c.773G>C n.913G>C c.8646G>C (p.Pro2882=) c.6822G>C (p.Pro2274=) c.6825G>C (p.Pro2275=) n.5088G>C c.8046G>C (p.Pro2682=) c.7425G>C (p.Pro2475=) c.8145G>C (p.Pro2715=) c.8643G>C (p.Pro2881=) c.6240G>C (p.Pro2080=)
2	g.237336454C>T	CA2187476	COL6A3	c.1291G>A c.8028G>A (p.Pro2676=) c.773G>A n.913G>A c.8646G>A (p.Pro2882=) c.6822G>A (p.Pro2274=) c.6825G>A (p.Pro2275=) n.5088G>A c.8046G>A (p.Pro2682=) c.7425G>A (p.Pro2475=) c.8145G>A (p.Pro2715=) c.8643G>A (p.Pro2881=) c.6240G>A (p.Pro2080=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336455G>A	CA2187478	COL6A3	c.1290C>T c.8027C>T (p.Pro2676Leu) c.772C>T n.912C>T c.8645C>T (p.Pro2882Leu) c.6821C>T (p.Pro2274Leu) c.6824C>T (p.Pro2275Leu) n.5087C>T c.8045C>T (p.Pro2682Leu) c.7424C>T (p.Pro2475Leu) c.8144C>T (p.Pro2715Leu) c.8642C>T (p.Pro2881Leu) c.6239C>T (p.Pro2080Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336455G>C	CA351191925	COL6A3	c.1290C>G c.8027C>G (p.Pro2676Arg) c.772C>G n.912C>G c.8645C>G (p.Pro2882Arg) c.6821C>G (p.Pro2274Arg) c.6824C>G (p.Pro2275Arg) n.5087C>G c.8045C>G (p.Pro2682Arg) c.7424C>G (p.Pro2475Arg) c.8144C>G (p.Pro2715Arg) c.8642C>G (p.Pro2881Arg) c.6239C>G (p.Pro2080Arg)
2	g.237336455G=	CA1337607210	COL6A3	c.1290C= c.8027C= (p.Pro2676=) c.772C= n.912C= c.8645C= (p.Pro2882=) c.6821C= (p.Pro2274=) c.6824C= (p.Pro2275=) n.5087C= c.8045C= (p.Pro2682=) c.7424C= (p.Pro2475=) c.8144C= (p.Pro2715=) c.8642C= (p.Pro2881=) c.6239C= (p.Pro2080=)
2	g.237336455G>T	CA351191926	COL6A3	c.1290C>A c.8027C>A (p.Pro2676Gln) c.772C>A n.912C>A c.8645C>A (p.Pro2882Gln) c.6821C>A (p.Pro2274Gln) c.6824C>A (p.Pro2275Gln) n.5087C>A c.8045C>A (p.Pro2682Gln) c.7424C>A (p.Pro2475Gln) c.8144C>A (p.Pro2715Gln) c.8642C>A (p.Pro2881Gln) c.6239C>A (p.Pro2080Gln)
2	g.237336456G>A	CA351191927	COL6A3	c.1289C>T c.8026C>T (p.Pro2676Ser) c.771C>T n.911C>T c.8644C>T (p.Pro2882Ser) c.6820C>T (p.Pro2274Ser) c.6823C>T (p.Pro2275Ser) n.5086C>T c.8044C>T (p.Pro2682Ser) c.7423C>T (p.Pro2475Ser) c.8143C>T (p.Pro2715Ser) c.8641C>T (p.Pro2881Ser) c.6238C>T (p.Pro2080Ser)	ClinVar dbSNP gnomAD v4
2	g.237336456G>C	CA351191928	COL6A3	c.1289C>G c.8026C>G (p.Pro2676Ala) c.771C>G n.911C>G c.8644C>G (p.Pro2882Ala) c.6820C>G (p.Pro2274Ala) c.6823C>G (p.Pro2275Ala) n.5086C>G c.8044C>G (p.Pro2682Ala) c.7423C>G (p.Pro2475Ala) c.8143C>G (p.Pro2715Ala) c.8641C>G (p.Pro2881Ala) c.6238C>G (p.Pro2080Ala)
2	g.237336456G=	CA1337607211	COL6A3	c.1289C= c.8026C= (p.Pro2676=) c.771C= n.911C= c.8644C= (p.Pro2882=) c.6820C= (p.Pro2274=) c.6823C= (p.Pro2275=) n.5086C= c.8044C= (p.Pro2682=) c.7423C= (p.Pro2475=) c.8143C= (p.Pro2715=) c.8641C= (p.Pro2881=) c.6238C= (p.Pro2080=)
2	g.237336456G>T	CA351191929	COL6A3	c.1289C>A c.8026C>A (p.Pro2676Thr) c.771C>A n.911C>A c.8644C>A (p.Pro2882Thr) c.6820C>A (p.Pro2274Thr) c.6823C>A (p.Pro2275Thr) n.5086C>A c.8044C>A (p.Pro2682Thr) c.7423C>A (p.Pro2475Thr) c.8143C>A (p.Pro2715Thr) c.8641C>A (p.Pro2881Thr) c.6238C>A (p.Pro2080Thr)
2	g.237336457C>A	CA351191930	COL6A3	c.1288G>T c.8025G>T (p.Lys2675Asn) c.770G>T n.910G>T c.8643G>T (p.Lys2881Asn) c.6819G>T (p.Lys2273Asn) c.6822G>T (p.Lys2274Asn) n.5085G>T c.8043G>T (p.Lys2681Asn) c.7422G>T (p.Lys2474Asn) c.8142G>T (p.Lys2714Asn) c.8640G>T (p.Lys2880Asn) c.6237G>T (p.Lys2079Asn)
2	g.237336457C>G	CA351191931	COL6A3	c.1288G>C c.8025G>C (p.Lys2675Asn) c.770G>C n.910G>C c.8643G>C (p.Lys2881Asn) c.6819G>C (p.Lys2273Asn) c.6822G>C (p.Lys2274Asn) n.5085G>C c.8043G>C (p.Lys2681Asn) c.7422G>C (p.Lys2474Asn) c.8142G>C (p.Lys2714Asn) c.8640G>C (p.Lys2880Asn) c.6237G>C (p.Lys2079Asn)
2	g.237336457C>T	CA431674892	COL6A3	c.1288G>A c.8025G>A (p.Lys2675=) c.770G>A n.910G>A c.8643G>A (p.Lys2881=) c.6819G>A (p.Lys2273=) c.6822G>A (p.Lys2274=) n.5085G>A c.8043G>A (p.Lys2681=) c.7422G>A (p.Lys2474=) c.8142G>A (p.Lys2714=) c.8640G>A (p.Lys2880=) c.6237G>A (p.Lys2079=)
2	g.237336458T>A	CA351191932	COL6A3	c.1287A>T c.8024A>T (p.Lys2675Met) c.769A>T n.909A>T c.8642A>T (p.Lys2881Met) c.6818A>T (p.Lys2273Met) c.6821A>T (p.Lys2274Met) n.5084A>T c.8042A>T (p.Lys2681Met) c.7421A>T (p.Lys2474Met) c.8141A>T (p.Lys2714Met) c.8639A>T (p.Lys2880Met) c.6236A>T (p.Lys2079Met)
2	g.237336458T>C	CA351191933	COL6A3	c.1287A>G c.8024A>G (p.Lys2675Arg) c.769A>G n.909A>G c.8642A>G (p.Lys2881Arg) c.6818A>G (p.Lys2273Arg) c.6821A>G (p.Lys2274Arg) n.5084A>G c.8042A>G (p.Lys2681Arg) c.7421A>G (p.Lys2474Arg) c.8141A>G (p.Lys2714Arg) c.8639A>G (p.Lys2880Arg) c.6236A>G (p.Lys2079Arg)
2	g.237336458T>G	CA351191934	COL6A3	c.1287A>C c.8024A>C (p.Lys2675Thr) c.769A>C n.909A>C c.8642A>C (p.Lys2881Thr) c.6818A>C (p.Lys2273Thr) c.6821A>C (p.Lys2274Thr) n.5084A>C c.8042A>C (p.Lys2681Thr) c.7421A>C (p.Lys2474Thr) c.8141A>C (p.Lys2714Thr) c.8639A>C (p.Lys2880Thr) c.6236A>C (p.Lys2079Thr)
2	g.237336459T>A	CA351191935	COL6A3	c.1286A>T c.8023A>T (p.Lys2675Ter) c.768A>T n.908A>T c.8641A>T (p.Lys2881Ter) c.6817A>T (p.Lys2273Ter) c.6820A>T (p.Lys2274Ter) n.5083A>T c.8041A>T (p.Lys2681Ter) c.7420A>T (p.Lys2474Ter) c.8140A>T (p.Lys2714Ter) c.8638A>T (p.Lys2880Ter) c.6235A>T (p.Lys2079Ter)
2	g.237336459T>C	CA351191936	COL6A3	c.1286A>G c.8023A>G (p.Lys2675Glu) c.768A>G n.908A>G c.8641A>G (p.Lys2881Glu) c.6817A>G (p.Lys2273Glu) c.6820A>G (p.Lys2274Glu) n.5083A>G c.8041A>G (p.Lys2681Glu) c.7420A>G (p.Lys2474Glu) c.8140A>G (p.Lys2714Glu) c.8638A>G (p.Lys2880Glu) c.6235A>G (p.Lys2079Glu)
2	g.237336459T>G	CA351191937	COL6A3	c.1286A>C c.8023A>C (p.Lys2675Gln) c.768A>C n.908A>C c.8641A>C (p.Lys2881Gln) c.6817A>C (p.Lys2273Gln) c.6820A>C (p.Lys2274Gln) n.5083A>C c.8041A>C (p.Lys2681Gln) c.7420A>C (p.Lys2474Gln) c.8140A>C (p.Lys2714Gln) c.8638A>C (p.Lys2880Gln) c.6235A>C (p.Lys2079Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336459T=	CA1337607212	COL6A3	c.1286A= c.8023A= (p.Lys2675=) c.768A= n.908A= c.8641A= (p.Lys2881=) c.6817A= (p.Lys2273=) c.6820A= (p.Lys2274=) n.5083A= c.8041A= (p.Lys2681=) c.7420A= (p.Lys2474=) c.8140A= (p.Lys2714=) c.8638A= (p.Lys2880=) c.6235A= (p.Lys2079=)
2	g.237336460C>A	CA431674893	COL6A3	c.1285G>T c.8022G>T (p.Thr2674=) c.767G>T n.907G>T c.8640G>T (p.Thr2880=) c.6816G>T (p.Thr2272=) c.6819G>T (p.Thr2273=) n.5082G>T c.8040G>T (p.Thr2680=) c.7419G>T (p.Thr2473=) c.8139G>T (p.Thr2713=) c.8637G>T (p.Thr2879=) c.6234G>T (p.Thr2078=)
2	g.237336460C=	CA1337607213	COL6A3	c.1285G= c.8022G= (p.Thr2674=) c.767G= n.907G= c.8640G= (p.Thr2880=) c.6816G= (p.Thr2272=) c.6819G= (p.Thr2273=) n.5082G= c.8040G= (p.Thr2680=) c.7419G= (p.Thr2473=) c.8139G= (p.Thr2713=) c.8637G= (p.Thr2879=) c.6234G= (p.Thr2078=)
2	g.237336460C>G	CA431674894	COL6A3	c.1285G>C c.8022G>C (p.Thr2674=) c.767G>C n.907G>C c.8640G>C (p.Thr2880=) c.6816G>C (p.Thr2272=) c.6819G>C (p.Thr2273=) n.5082G>C c.8040G>C (p.Thr2680=) c.7419G>C (p.Thr2473=) c.8139G>C (p.Thr2713=) c.8637G>C (p.Thr2879=) c.6234G>C (p.Thr2078=)	ClinVar dbSNP gnomAD v4
2	g.237336460C>T	CA2187479	COL6A3	c.1285G>A c.8022G>A (p.Thr2674=) c.767G>A n.907G>A c.8640G>A (p.Thr2880=) c.6816G>A (p.Thr2272=) c.6819G>A (p.Thr2273=) n.5082G>A c.8040G>A (p.Thr2680=) c.7419G>A (p.Thr2473=) c.8139G>A (p.Thr2713=) c.8637G>A (p.Thr2879=) c.6234G>A (p.Thr2078=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336461G>A	CA2187480	COL6A3	c.1284C>T c.8021C>T (p.Thr2674Met) c.766C>T n.906C>T c.8639C>T (p.Thr2880Met) c.6815C>T (p.Thr2272Met) c.6818C>T (p.Thr2273Met) n.5081C>T c.8039C>T (p.Thr2680Met) c.7418C>T (p.Thr2473Met) c.8138C>T (p.Thr2713Met) c.8636C>T (p.Thr2879Met) c.6233C>T (p.Thr2078Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336461G>C	CA351191938	COL6A3	c.1284C>G c.8021C>G (p.Thr2674Arg) c.766C>G n.906C>G c.8639C>G (p.Thr2880Arg) c.6815C>G (p.Thr2272Arg) c.6818C>G (p.Thr2273Arg) n.5081C>G c.8039C>G (p.Thr2680Arg) c.7418C>G (p.Thr2473Arg) c.8138C>G (p.Thr2713Arg) c.8636C>G (p.Thr2879Arg) c.6233C>G (p.Thr2078Arg)
2	g.237336461G=	CA1337607214	COL6A3	c.1284C= c.8021C= (p.Thr2674=) c.766C= n.906C= c.8639C= (p.Thr2880=) c.6815C= (p.Thr2272=) c.6818C= (p.Thr2273=) n.5081C= c.8039C= (p.Thr2680=) c.7418C= (p.Thr2473=) c.8138C= (p.Thr2713=) c.8636C= (p.Thr2879=) c.6233C= (p.Thr2078=)
2	g.237336461G>T	CA351191939	COL6A3	c.1284C>A c.8021C>A (p.Thr2674Lys) c.766C>A n.906C>A c.8639C>A (p.Thr2880Lys) c.6815C>A (p.Thr2272Lys) c.6818C>A (p.Thr2273Lys) n.5081C>A c.8039C>A (p.Thr2680Lys) c.7418C>A (p.Thr2473Lys) c.8138C>A (p.Thr2713Lys) c.8636C>A (p.Thr2879Lys) c.6233C>A (p.Thr2078Lys)
2	g.237336462T>A	CA351191940	COL6A3	c.1283A>T c.8020A>T (p.Thr2674Ser) c.765A>T n.905A>T c.8638A>T (p.Thr2880Ser) c.6814A>T (p.Thr2272Ser) c.6817A>T (p.Thr2273Ser) n.5080A>T c.8038A>T (p.Thr2680Ser) c.7417A>T (p.Thr2473Ser) c.8137A>T (p.Thr2713Ser) c.8635A>T (p.Thr2879Ser) c.6232A>T (p.Thr2078Ser)
2	g.237336462T>C	CA351191941	COL6A3	c.1283A>G c.8020A>G (p.Thr2674Ala) c.765A>G n.905A>G c.8638A>G (p.Thr2880Ala) c.6814A>G (p.Thr2272Ala) c.6817A>G (p.Thr2273Ala) n.5080A>G c.8038A>G (p.Thr2680Ala) c.7417A>G (p.Thr2473Ala) c.8137A>G (p.Thr2713Ala) c.8635A>G (p.Thr2879Ala) c.6232A>G (p.Thr2078Ala)	gnomAD v4
2	g.237336462T>G	CA351191942	COL6A3	c.1283A>C c.8020A>C (p.Thr2674Pro) c.765A>C n.905A>C c.8638A>C (p.Thr2880Pro) c.6814A>C (p.Thr2272Pro) c.6817A>C (p.Thr2273Pro) n.5080A>C c.8038A>C (p.Thr2680Pro) c.7417A>C (p.Thr2473Pro) c.8137A>C (p.Thr2713Pro) c.8635A>C (p.Thr2879Pro) c.6232A>C (p.Thr2078Pro)
2	g.237336463C>A	CA431674895	COL6A3	c.1282G>T c.8019G>T (p.Thr2673=) c.764G>T n.904G>T c.8637G>T (p.Thr2879=) c.6813G>T (p.Thr2271=) c.6816G>T (p.Thr2272=) n.5079G>T c.8037G>T (p.Thr2679=) c.7416G>T (p.Thr2472=) c.8136G>T (p.Thr2712=) c.8634G>T (p.Thr2878=) c.6231G>T (p.Thr2077=)	gnomAD v4
2	g.237336463C=	CA1337607215	COL6A3	c.1282G= c.8019G= (p.Thr2673=) c.764G= n.904G= c.8637G= (p.Thr2879=) c.6813G= (p.Thr2271=) c.6816G= (p.Thr2272=) n.5079G= c.8037G= (p.Thr2679=) c.7416G= (p.Thr2472=) c.8136G= (p.Thr2712=) c.8634G= (p.Thr2878=) c.6231G= (p.Thr2077=)
2	g.237336463C>G	CA431674896	COL6A3	c.1282G>C c.8019G>C (p.Thr2673=) c.764G>C n.904G>C c.8637G>C (p.Thr2879=) c.6813G>C (p.Thr2271=) c.6816G>C (p.Thr2272=) n.5079G>C c.8037G>C (p.Thr2679=) c.7416G>C (p.Thr2472=) c.8136G>C (p.Thr2712=) c.8634G>C (p.Thr2878=) c.6231G>C (p.Thr2077=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336463C>T	CA431674897	COL6A3	c.1282G>A c.8019G>A (p.Thr2673=) c.764G>A n.904G>A c.8637G>A (p.Thr2879=) c.6813G>A (p.Thr2271=) c.6816G>A (p.Thr2272=) n.5079G>A c.8037G>A (p.Thr2679=) c.7416G>A (p.Thr2472=) c.8136G>A (p.Thr2712=) c.8634G>A (p.Thr2878=) c.6231G>A (p.Thr2077=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.237336464G>A	CA2187481	COL6A3	c.1281C>T c.8018C>T (p.Thr2673Met) c.763C>T n.903C>T c.8636C>T (p.Thr2879Met) c.6812C>T (p.Thr2271Met) c.6815C>T (p.Thr2272Met) n.5078C>T c.8036C>T (p.Thr2679Met) c.7415C>T (p.Thr2472Met) c.8135C>T (p.Thr2712Met) c.8633C>T (p.Thr2878Met) c.6230C>T (p.Thr2077Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336464G>C	CA351191943	COL6A3	c.1281C>G c.8018C>G (p.Thr2673Arg) c.763C>G n.903C>G c.8636C>G (p.Thr2879Arg) c.6812C>G (p.Thr2271Arg) c.6815C>G (p.Thr2272Arg) n.5078C>G c.8036C>G (p.Thr2679Arg) c.7415C>G (p.Thr2472Arg) c.8135C>G (p.Thr2712Arg) c.8633C>G (p.Thr2878Arg) c.6230C>G (p.Thr2077Arg)
2	g.237336464G=	CA1337607216	COL6A3	c.1281C= c.8018C= (p.Thr2673=) c.763C= n.903C= c.8636C= (p.Thr2879=) c.6812C= (p.Thr2271=) c.6815C= (p.Thr2272=) n.5078C= c.8036C= (p.Thr2679=) c.7415C= (p.Thr2472=) c.8135C= (p.Thr2712=) c.8633C= (p.Thr2878=) c.6230C= (p.Thr2077=)
2	g.237336464G>T	CA351191944	COL6A3	c.1281C>A c.8018C>A (p.Thr2673Lys) c.763C>A n.903C>A c.8636C>A (p.Thr2879Lys) c.6812C>A (p.Thr2271Lys) c.6815C>A (p.Thr2272Lys) n.5078C>A c.8036C>A (p.Thr2679Lys) c.7415C>A (p.Thr2472Lys) c.8135C>A (p.Thr2712Lys) c.8633C>A (p.Thr2878Lys) c.6230C>A (p.Thr2077Lys)
2	g.237336465T>A	CA351191945	COL6A3	c.1280A>T c.8017A>T (p.Thr2673Ser) c.762A>T n.902A>T c.8635A>T (p.Thr2879Ser) c.6811A>T (p.Thr2271Ser) c.6814A>T (p.Thr2272Ser) n.5077A>T c.8035A>T (p.Thr2679Ser) c.7414A>T (p.Thr2472Ser) c.8134A>T (p.Thr2712Ser) c.8632A>T (p.Thr2878Ser) c.6229A>T (p.Thr2077Ser)
2	g.237336465T>C	CA2187483	COL6A3	c.1280A>G c.8017A>G (p.Thr2673Ala) c.762A>G n.902A>G c.8635A>G (p.Thr2879Ala) c.6811A>G (p.Thr2271Ala) c.6814A>G (p.Thr2272Ala) n.5077A>G c.8035A>G (p.Thr2679Ala) c.7414A>G (p.Thr2472Ala) c.8134A>G (p.Thr2712Ala) c.8632A>G (p.Thr2878Ala) c.6229A>G (p.Thr2077Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336465T>G	CA351191946	COL6A3	c.1280A>C c.8017A>C (p.Thr2673Pro) c.762A>C n.902A>C c.8635A>C (p.Thr2879Pro) c.6811A>C (p.Thr2271Pro) c.6814A>C (p.Thr2272Pro) n.5077A>C c.8035A>C (p.Thr2679Pro) c.7414A>C (p.Thr2472Pro) c.8134A>C (p.Thr2712Pro) c.8632A>C (p.Thr2878Pro) c.6229A>C (p.Thr2077Pro)
2	g.237336465T=	CA1337607217	COL6A3	c.1280A= c.8017A= (p.Thr2673=) c.762A= n.902A= c.8635A= (p.Thr2879=) c.6811A= (p.Thr2271=) c.6814A= (p.Thr2272=) n.5077A= c.8035A= (p.Thr2679=) c.7414A= (p.Thr2472=) c.8134A= (p.Thr2712=) c.8632A= (p.Thr2878=) c.6229A= (p.Thr2077=)
2	g.237336465dup	CA2187482	COL6A3	c.1280dup c.8017dup (p.Thr2673AsnfsTer?) c.762dup n.902dup c.8635dup (p.Thr2879AsnfsTer?) c.6811dup (p.Thr2271AsnfsTer?) c.6814dup (p.Thr2272AsnfsTer?) n.5077dup c.8035dup (p.Thr2679AsnfsTer?) c.7414dup (p.Thr2472AsnfsTer?) c.8134dup (p.Thr2712AsnfsTer?) c.8632dup (p.Thr2878AsnfsTer?) c.6229dup (p.Thr2077AsnfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336466del	CA2573051898	COL6A3	c.1279del c.8016del (p.Thr2673ArgfsTer5) c.761del n.901del c.8634del (p.Thr2879ArgfsTer5) c.6810del (p.Thr2271ArgfsTer5) c.6813del (p.Thr2272ArgfsTer5) n.5076del c.8034del (p.Thr2679ArgfsTer5) c.7413del (p.Thr2472ArgfsTer5) c.8133del (p.Thr2712ArgfsTer5) c.8631del (p.Thr2878ArgfsTer5) c.6228del (p.Thr2077ArgfsTer5)	ClinVar dbSNP
2	g.237336466A=	CA1337607218	COL6A3	c.1279T= c.8016T= (p.Thr2672=) c.761T= n.901T= c.8634T= (p.Thr2878=) c.6810T= (p.Thr2270=) c.6813T= (p.Thr2271=) n.5076T= c.8034T= (p.Thr2678=) c.7413T= (p.Thr2471=) c.8133T= (p.Thr2711=) c.8631T= (p.Thr2877=) c.6228T= (p.Thr2076=)
2	g.237336466A>C	CA2187485	COL6A3	c.1279T>G c.8016T>G (p.Thr2672=) c.761T>G n.901T>G c.8634T>G (p.Thr2878=) c.6810T>G (p.Thr2270=) c.6813T>G (p.Thr2271=) n.5076T>G c.8034T>G (p.Thr2678=) c.7413T>G (p.Thr2471=) c.8133T>G (p.Thr2711=) c.8631T>G (p.Thr2877=) c.6228T>G (p.Thr2076=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336466A>G	CA2187484	COL6A3	c.1279T>C c.8016T>C (p.Thr2672=) c.761T>C n.901T>C c.8634T>C (p.Thr2878=) c.6810T>C (p.Thr2270=) c.6813T>C (p.Thr2271=) n.5076T>C c.8034T>C (p.Thr2678=) c.7413T>C (p.Thr2471=) c.8133T>C (p.Thr2711=) c.8631T>C (p.Thr2877=) c.6228T>C (p.Thr2076=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336466A>T	CA431674898	COL6A3	c.1279T>A c.8016T>A (p.Thr2672=) c.761T>A n.901T>A c.8634T>A (p.Thr2878=) c.6810T>A (p.Thr2270=) c.6813T>A (p.Thr2271=) n.5076T>A c.8034T>A (p.Thr2678=) c.7413T>A (p.Thr2471=) c.8133T>A (p.Thr2711=) c.8631T>A (p.Thr2877=) c.6228T>A (p.Thr2076=)	ClinVar dbSNP
2	g.237336467G>A	CA351191947	COL6A3	c.1278C>T c.8015C>T (p.Thr2672Ile) c.760C>T n.900C>T c.8633C>T (p.Thr2878Ile) c.6809C>T (p.Thr2270Ile) c.6812C>T (p.Thr2271Ile) n.5075C>T c.8033C>T (p.Thr2678Ile) c.7412C>T (p.Thr2471Ile) c.8132C>T (p.Thr2711Ile) c.8630C>T (p.Thr2877Ile) c.6227C>T (p.Thr2076Ile)
2	g.237336467G>C	CA351191948	COL6A3	c.1278C>G c.8015C>G (p.Thr2672Ser) c.760C>G n.900C>G c.8633C>G (p.Thr2878Ser) c.6809C>G (p.Thr2270Ser) c.6812C>G (p.Thr2271Ser) n.5075C>G c.8033C>G (p.Thr2678Ser) c.7412C>G (p.Thr2471Ser) c.8132C>G (p.Thr2711Ser) c.8630C>G (p.Thr2877Ser) c.6227C>G (p.Thr2076Ser)
2	g.237336467G>T	CA351191949	COL6A3	c.1278C>A c.8015C>A (p.Thr2672Asn) c.760C>A n.900C>A c.8633C>A (p.Thr2878Asn) c.6809C>A (p.Thr2270Asn) c.6812C>A (p.Thr2271Asn) n.5075C>A c.8033C>A (p.Thr2678Asn) c.7412C>A (p.Thr2471Asn) c.8132C>A (p.Thr2711Asn) c.8630C>A (p.Thr2877Asn) c.6227C>A (p.Thr2076Asn)
2	g.237336468T>A	CA351191950	COL6A3	c.1277A>T c.8014A>T (p.Thr2672Ser) c.759A>T n.899A>T c.8632A>T (p.Thr2878Ser) c.6808A>T (p.Thr2270Ser) c.6811A>T (p.Thr2271Ser) n.5074A>T c.8032A>T (p.Thr2678Ser) c.7411A>T (p.Thr2471Ser) c.8131A>T (p.Thr2711Ser) c.8629A>T (p.Thr2877Ser) c.6226A>T (p.Thr2076Ser)
2	g.237336468T>C	CA2187486	COL6A3	c.1277A>G c.8014A>G (p.Thr2672Ala) c.759A>G n.899A>G c.8632A>G (p.Thr2878Ala) c.6808A>G (p.Thr2270Ala) c.6811A>G (p.Thr2271Ala) n.5074A>G c.8032A>G (p.Thr2678Ala) c.7411A>G (p.Thr2471Ala) c.8131A>G (p.Thr2711Ala) c.8629A>G (p.Thr2877Ala) c.6226A>G (p.Thr2076Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336468T>G	CA351191951	COL6A3	c.1277A>C c.8014A>C (p.Thr2672Pro) c.759A>C n.899A>C c.8632A>C (p.Thr2878Pro) c.6808A>C (p.Thr2270Pro) c.6811A>C (p.Thr2271Pro) n.5074A>C c.8032A>C (p.Thr2678Pro) c.7411A>C (p.Thr2471Pro) c.8131A>C (p.Thr2711Pro) c.8629A>C (p.Thr2877Pro) c.6226A>C (p.Thr2076Pro)
2	g.237336468T=	CA1337607219	COL6A3	c.1277A= c.8014A= (p.Thr2672=) c.759A= n.899A= c.8632A= (p.Thr2878=) c.6808A= (p.Thr2270=) c.6811A= (p.Thr2271=) n.5074A= c.8032A= (p.Thr2678=) c.7411A= (p.Thr2471=) c.8131A= (p.Thr2711=) c.8629A= (p.Thr2877=) c.6226A= (p.Thr2076=)
2	g.237336469C>A	CA431674901	COL6A3	c.1276G>T c.8013G>T (p.Val2671=) c.758G>T n.898G>T c.8631G>T (p.Val2877=) c.6807G>T (p.Val2269=) c.6810G>T (p.Val2270=) n.5073G>T c.8031G>T (p.Val2677=) c.7410G>T (p.Val2470=) c.8130G>T (p.Val2710=) c.8628G>T (p.Val2876=) c.6225G>T (p.Val2075=)
2	g.237336469C>G	CA431674899	COL6A3	c.1276G>C c.8013G>C (p.Val2671=) c.758G>C n.898G>C c.8631G>C (p.Val2877=) c.6807G>C (p.Val2269=) c.6810G>C (p.Val2270=) n.5073G>C c.8031G>C (p.Val2677=) c.7410G>C (p.Val2470=) c.8130G>C (p.Val2710=) c.8628G>C (p.Val2876=) c.6225G>C (p.Val2075=)
2	g.237336469C>T	CA431674900	COL6A3	c.1276G>A c.8013G>A (p.Val2671=) c.758G>A n.898G>A c.8631G>A (p.Val2877=) c.6807G>A (p.Val2269=) c.6810G>A (p.Val2270=) n.5073G>A c.8031G>A (p.Val2677=) c.7410G>A (p.Val2470=) c.8130G>A (p.Val2710=) c.8628G>A (p.Val2876=) c.6225G>A (p.Val2075=)	gnomAD v4
2	g.237336470A>C	CA351191952	COL6A3	c.1275T>G c.8012T>G (p.Val2671Gly) c.757T>G n.897T>G c.8630T>G (p.Val2877Gly) c.6806T>G (p.Val2269Gly) c.6809T>G (p.Val2270Gly) n.5072T>G c.8030T>G (p.Val2677Gly) c.7409T>G (p.Val2470Gly) c.8129T>G (p.Val2710Gly) c.8627T>G (p.Val2876Gly) c.6224T>G (p.Val2075Gly)
2	g.237336470A>G	CA351191953	COL6A3	c.1275T>C c.8012T>C (p.Val2671Ala) c.757T>C n.897T>C c.8630T>C (p.Val2877Ala) c.6806T>C (p.Val2269Ala) c.6809T>C (p.Val2270Ala) n.5072T>C c.8030T>C (p.Val2677Ala) c.7409T>C (p.Val2470Ala) c.8129T>C (p.Val2710Ala) c.8627T>C (p.Val2876Ala) c.6224T>C (p.Val2075Ala)
2	g.237336470A>T	CA351191954	COL6A3	c.1275T>A c.8012T>A (p.Val2671Glu) c.757T>A n.897T>A c.8630T>A (p.Val2877Glu) c.6806T>A (p.Val2269Glu) c.6809T>A (p.Val2270Glu) n.5072T>A c.8030T>A (p.Val2677Glu) c.7409T>A (p.Val2470Glu) c.8129T>A (p.Val2710Glu) c.8627T>A (p.Val2876Glu) c.6224T>A (p.Val2075Glu)
2	g.237336471C>A	CA351191955	COL6A3	c.1274G>T c.8011G>T (p.Val2671Leu) c.756G>T n.896G>T c.8629G>T (p.Val2877Leu) c.6805G>T (p.Val2269Leu) c.6808G>T (p.Val2270Leu) n.5071G>T c.8029G>T (p.Val2677Leu) c.7408G>T (p.Val2470Leu) c.8128G>T (p.Val2710Leu) c.8626G>T (p.Val2876Leu) c.6223G>T (p.Val2075Leu)
2	g.237336471C>G	CA351191956	COL6A3	c.1274G>C c.8011G>C (p.Val2671Leu) c.756G>C n.896G>C c.8629G>C (p.Val2877Leu) c.6805G>C (p.Val2269Leu) c.6808G>C (p.Val2270Leu) n.5071G>C c.8029G>C (p.Val2677Leu) c.7408G>C (p.Val2470Leu) c.8128G>C (p.Val2710Leu) c.8626G>C (p.Val2876Leu) c.6223G>C (p.Val2075Leu)
2	g.237336471C>T	CA351191957	COL6A3	c.1274G>A c.8011G>A (p.Val2671Met) c.756G>A n.896G>A c.8629G>A (p.Val2877Met) c.6805G>A (p.Val2269Met) c.6808G>A (p.Val2270Met) n.5071G>A c.8029G>A (p.Val2677Met) c.7408G>A (p.Val2470Met) c.8128G>A (p.Val2710Met) c.8626G>A (p.Val2876Met) c.6223G>A (p.Val2075Met)

Number of alleles fetched