Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.237336260G>A	CA351191284	COL6A3	c.1485C>T c.8222C>T (p.Ala2741Val) c.967C>T n.1107C>T c.8840C>T (p.Ala2947Val) c.7016C>T (p.Ala2339Val) c.7019C>T (p.Ala2340Val) n.5282C>T c.8240C>T (p.Ala2747Val) c.7619C>T (p.Ala2540Val) c.8339C>T (p.Ala2780Val) c.8837C>T (p.Ala2946Val) c.6434C>T (p.Ala2145Val)
2	g.237336260G>C	CA351191286	COL6A3	c.1485C>G c.8222C>G (p.Ala2741Gly) c.967C>G n.1107C>G c.8840C>G (p.Ala2947Gly) c.7016C>G (p.Ala2339Gly) c.7019C>G (p.Ala2340Gly) n.5282C>G c.8240C>G (p.Ala2747Gly) c.7619C>G (p.Ala2540Gly) c.8339C>G (p.Ala2780Gly) c.8837C>G (p.Ala2946Gly) c.6434C>G (p.Ala2145Gly)
2	g.237336260G>T	CA351191288	COL6A3	c.1485C>A c.8222C>A (p.Ala2741Glu) c.967C>A n.1107C>A c.8840C>A (p.Ala2947Glu) c.7016C>A (p.Ala2339Glu) c.7019C>A (p.Ala2340Glu) n.5282C>A c.8240C>A (p.Ala2747Glu) c.7619C>A (p.Ala2540Glu) c.8339C>A (p.Ala2780Glu) c.8837C>A (p.Ala2946Glu) c.6434C>A (p.Ala2145Glu)
2	g.237336261C>A	CA351191291	COL6A3	c.1484G>T c.8221G>T (p.Ala2741Ser) c.966G>T n.1106G>T c.8839G>T (p.Ala2947Ser) c.7015G>T (p.Ala2339Ser) c.7018G>T (p.Ala2340Ser) n.5281G>T c.8239G>T (p.Ala2747Ser) c.7618G>T (p.Ala2540Ser) c.8338G>T (p.Ala2780Ser) c.8836G>T (p.Ala2946Ser) c.6433G>T (p.Ala2145Ser)
2	g.237336261C=	CA1337607106	COL6A3	c.1484G= c.8221G= (p.Ala2741=) c.966G= n.1106G= c.8839G= (p.Ala2947=) c.7015G= (p.Ala2339=) c.7018G= (p.Ala2340=) n.5281G= c.8239G= (p.Ala2747=) c.7618G= (p.Ala2540=) c.8338G= (p.Ala2780=) c.8836G= (p.Ala2946=) c.6433G= (p.Ala2145=)
2	g.237336261C>G	CA351191293	COL6A3	c.1484G>C c.8221G>C (p.Ala2741Pro) c.966G>C n.1106G>C c.8839G>C (p.Ala2947Pro) c.7015G>C (p.Ala2339Pro) c.7018G>C (p.Ala2340Pro) n.5281G>C c.8239G>C (p.Ala2747Pro) c.7618G>C (p.Ala2540Pro) c.8338G>C (p.Ala2780Pro) c.8836G>C (p.Ala2946Pro) c.6433G>C (p.Ala2145Pro)
2	g.237336261C>T	CA2187434	COL6A3	c.1484G>A c.8221G>A (p.Ala2741Thr) c.966G>A n.1106G>A c.8839G>A (p.Ala2947Thr) c.7015G>A (p.Ala2339Thr) c.7018G>A (p.Ala2340Thr) n.5281G>A c.8239G>A (p.Ala2747Thr) c.7618G>A (p.Ala2540Thr) c.8338G>A (p.Ala2780Thr) c.8836G>A (p.Ala2946Thr) c.6433G>A (p.Ala2145Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336262T>A	CA431701249	COL6A3	c.1483A>T c.8220A>T (p.Ala2740=) c.965A>T n.1105A>T c.8838A>T (p.Ala2946=) c.7014A>T (p.Ala2338=) c.7017A>T (p.Ala2339=) n.5280A>T c.8238A>T (p.Ala2746=) c.7617A>T (p.Ala2539=) c.8337A>T (p.Ala2779=) c.8835A>T (p.Ala2945=) c.6432A>T (p.Ala2144=)
2	g.237336262T>C	CA431701251	COL6A3	c.1483A>G c.8220A>G (p.Ala2740=) c.965A>G n.1105A>G c.8838A>G (p.Ala2946=) c.7014A>G (p.Ala2338=) c.7017A>G (p.Ala2339=) n.5280A>G c.8238A>G (p.Ala2746=) c.7617A>G (p.Ala2539=) c.8337A>G (p.Ala2779=) c.8835A>G (p.Ala2945=) c.6432A>G (p.Ala2144=)	dbSNP gnomAD v3 gnomAD v4
2	g.237336262T>G	CA431701255	COL6A3	c.1483A>C c.8220A>C (p.Ala2740=) c.965A>C n.1105A>C c.8838A>C (p.Ala2946=) c.7014A>C (p.Ala2338=) c.7017A>C (p.Ala2339=) n.5280A>C c.8238A>C (p.Ala2746=) c.7617A>C (p.Ala2539=) c.8337A>C (p.Ala2779=) c.8835A>C (p.Ala2945=) c.6432A>C (p.Ala2144=)
2	g.237336262T=	CA1337607107	COL6A3	c.1483A= c.8220A= (p.Ala2740=) c.965A= n.1105A= c.8838A= (p.Ala2946=) c.7014A= (p.Ala2338=) c.7017A= (p.Ala2339=) n.5280A= c.8238A= (p.Ala2746=) c.7617A= (p.Ala2539=) c.8337A= (p.Ala2779=) c.8835A= (p.Ala2945=) c.6432A= (p.Ala2144=)
2	g.237336263G>A	CA351191297	COL6A3	c.1482C>T c.8219C>T (p.Ala2740Val) c.964C>T n.1104C>T c.8837C>T (p.Ala2946Val) c.7013C>T (p.Ala2338Val) c.7016C>T (p.Ala2339Val) n.5279C>T c.8237C>T (p.Ala2746Val) c.7616C>T (p.Ala2539Val) c.8336C>T (p.Ala2779Val) c.8834C>T (p.Ala2945Val) c.6431C>T (p.Ala2144Val)
2	g.237336263G>C	CA351191299	COL6A3	c.1482C>G c.8219C>G (p.Ala2740Gly) c.964C>G n.1104C>G c.8837C>G (p.Ala2946Gly) c.7013C>G (p.Ala2338Gly) c.7016C>G (p.Ala2339Gly) n.5279C>G c.8237C>G (p.Ala2746Gly) c.7616C>G (p.Ala2539Gly) c.8336C>G (p.Ala2779Gly) c.8834C>G (p.Ala2945Gly) c.6431C>G (p.Ala2144Gly)
2	g.237336263G>T	CA351191295	COL6A3	c.1482C>A c.8219C>A (p.Ala2740Glu) c.964C>A n.1104C>A c.8837C>A (p.Ala2946Glu) c.7013C>A (p.Ala2338Glu) c.7016C>A (p.Ala2339Glu) n.5279C>A c.8237C>A (p.Ala2746Glu) c.7616C>A (p.Ala2539Glu) c.8336C>A (p.Ala2779Glu) c.8834C>A (p.Ala2945Glu) c.6431C>A (p.Ala2144Glu)
2	g.237336264C>A	CA351191303	COL6A3	c.1481G>T c.8218G>T (p.Ala2740Ser) c.963G>T n.1103G>T c.8836G>T (p.Ala2946Ser) c.7012G>T (p.Ala2338Ser) c.7015G>T (p.Ala2339Ser) n.5278G>T c.8236G>T (p.Ala2746Ser) c.7615G>T (p.Ala2539Ser) c.8335G>T (p.Ala2779Ser) c.8833G>T (p.Ala2945Ser) c.6430G>T (p.Ala2144Ser)	COSMIC
2	g.237336264C=	CA1337607108	COL6A3	c.1481G= c.8218G= (p.Ala2740=) c.963G= n.1103G= c.8836G= (p.Ala2946=) c.7012G= (p.Ala2338=) c.7015G= (p.Ala2339=) n.5278G= c.8236G= (p.Ala2746=) c.7615G= (p.Ala2539=) c.8335G= (p.Ala2779=) c.8833G= (p.Ala2945=) c.6430G= (p.Ala2144=)
2	g.237336264C>G	CA351191304	COL6A3	c.1481G>C c.8218G>C (p.Ala2740Pro) c.963G>C n.1103G>C c.8836G>C (p.Ala2946Pro) c.7012G>C (p.Ala2338Pro) c.7015G>C (p.Ala2339Pro) n.5278G>C c.8236G>C (p.Ala2746Pro) c.7615G>C (p.Ala2539Pro) c.8335G>C (p.Ala2779Pro) c.8833G>C (p.Ala2945Pro) c.6430G>C (p.Ala2144Pro)
2	g.237336264C>T	CA2187435	COL6A3	c.1481G>A c.8218G>A (p.Ala2740Thr) c.963G>A n.1103G>A c.8836G>A (p.Ala2946Thr) c.7012G>A (p.Ala2338Thr) c.7015G>A (p.Ala2339Thr) n.5278G>A c.8236G>A (p.Ala2746Thr) c.7615G>A (p.Ala2539Thr) c.8335G>A (p.Ala2779Thr) c.8833G>A (p.Ala2945Thr) c.6430G>A (p.Ala2144Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336265T>A	CA431701277	COL6A3	c.1480A>T c.8217A>T (p.Val2739=) c.962A>T n.1102A>T c.8835A>T (p.Val2945=) c.7011A>T (p.Val2337=) c.7014A>T (p.Val2338=) n.5277A>T c.8235A>T (p.Val2745=) c.7614A>T (p.Val2538=) c.8334A>T (p.Val2778=) c.8832A>T (p.Val2944=) c.6429A>T (p.Val2143=)
2	g.237336265T>C	CA431701281	COL6A3	c.1480A>G c.8217A>G (p.Val2739=) c.962A>G n.1102A>G c.8835A>G (p.Val2945=) c.7011A>G (p.Val2337=) c.7014A>G (p.Val2338=) n.5277A>G c.8235A>G (p.Val2745=) c.7614A>G (p.Val2538=) c.8334A>G (p.Val2778=) c.8832A>G (p.Val2944=) c.6429A>G (p.Val2143=)
2	g.237336265T>G	CA431701285	COL6A3	c.1480A>C c.8217A>C (p.Val2739=) c.962A>C n.1102A>C c.8835A>C (p.Val2945=) c.7011A>C (p.Val2337=) c.7014A>C (p.Val2338=) n.5277A>C c.8235A>C (p.Val2745=) c.7614A>C (p.Val2538=) c.8334A>C (p.Val2778=) c.8832A>C (p.Val2944=) c.6429A>C (p.Val2143=)
2	g.237336266A>C	CA351191309	COL6A3	c.1479T>G c.8216T>G (p.Val2739Gly) c.961T>G n.1101T>G c.8834T>G (p.Val2945Gly) c.7010T>G (p.Val2337Gly) c.7013T>G (p.Val2338Gly) n.5276T>G c.8234T>G (p.Val2745Gly) c.7613T>G (p.Val2538Gly) c.8333T>G (p.Val2778Gly) c.8831T>G (p.Val2944Gly) c.6428T>G (p.Val2143Gly)
2	g.237336266A>G	CA351191311	COL6A3	c.1479T>C c.8216T>C (p.Val2739Ala) c.961T>C n.1101T>C c.8834T>C (p.Val2945Ala) c.7010T>C (p.Val2337Ala) c.7013T>C (p.Val2338Ala) n.5276T>C c.8234T>C (p.Val2745Ala) c.7613T>C (p.Val2538Ala) c.8333T>C (p.Val2778Ala) c.8831T>C (p.Val2944Ala) c.6428T>C (p.Val2143Ala)
2	g.237336266A>T	CA351191313	COL6A3	c.1479T>A c.8216T>A (p.Val2739Glu) c.961T>A n.1101T>A c.8834T>A (p.Val2945Glu) c.7010T>A (p.Val2337Glu) c.7013T>A (p.Val2338Glu) n.5276T>A c.8234T>A (p.Val2745Glu) c.7613T>A (p.Val2538Glu) c.8333T>A (p.Val2778Glu) c.8831T>A (p.Val2944Glu) c.6428T>A (p.Val2143Glu)	ClinVar dbSNP gnomAD v4
2	g.237336267C>A	CA351191316	COL6A3	c.1478G>T c.8215G>T (p.Val2739Leu) c.960G>T n.1100G>T c.8833G>T (p.Val2945Leu) c.7009G>T (p.Val2337Leu) c.7012G>T (p.Val2338Leu) n.5275G>T c.8233G>T (p.Val2745Leu) c.7612G>T (p.Val2538Leu) c.8332G>T (p.Val2778Leu) c.8830G>T (p.Val2944Leu) c.6427G>T (p.Val2143Leu)
2	g.237336267C>G	CA351191318	COL6A3	c.1478G>C c.8215G>C (p.Val2739Leu) c.960G>C n.1100G>C c.8833G>C (p.Val2945Leu) c.7009G>C (p.Val2337Leu) c.7012G>C (p.Val2338Leu) n.5275G>C c.8233G>C (p.Val2745Leu) c.7612G>C (p.Val2538Leu) c.8332G>C (p.Val2778Leu) c.8830G>C (p.Val2944Leu) c.6427G>C (p.Val2143Leu)
2	g.237336267C>T	CA351191321	COL6A3	c.1478G>A c.8215G>A (p.Val2739Ile) c.960G>A n.1100G>A c.8833G>A (p.Val2945Ile) c.7009G>A (p.Val2337Ile) c.7012G>A (p.Val2338Ile) n.5275G>A c.8233G>A (p.Val2745Ile) c.7612G>A (p.Val2538Ile) c.8332G>A (p.Val2778Ile) c.8830G>A (p.Val2944Ile) c.6427G>A (p.Val2143Ile)	ClinVar
2	g.237336268A>C	CA431701305	COL6A3	c.1477T>G c.8214T>G (p.Pro2738=) c.959T>G n.1099T>G c.8832T>G (p.Pro2944=) c.7008T>G (p.Pro2336=) c.7011T>G (p.Pro2337=) n.5274T>G c.8232T>G (p.Pro2744=) c.7611T>G (p.Pro2537=) c.8331T>G (p.Pro2777=) c.8829T>G (p.Pro2943=) c.6426T>G (p.Pro2142=)
2	g.237336268A>G	CA431701311	COL6A3	c.1477T>C c.8214T>C (p.Pro2738=) c.959T>C n.1099T>C c.8832T>C (p.Pro2944=) c.7008T>C (p.Pro2336=) c.7011T>C (p.Pro2337=) n.5274T>C c.8232T>C (p.Pro2744=) c.7611T>C (p.Pro2537=) c.8331T>C (p.Pro2777=) c.8829T>C (p.Pro2943=) c.6426T>C (p.Pro2142=)
2	g.237336268A>T	CA431701307	COL6A3	c.1477T>A c.8214T>A (p.Pro2738=) c.959T>A n.1099T>A c.8832T>A (p.Pro2944=) c.7008T>A (p.Pro2336=) c.7011T>A (p.Pro2337=) n.5274T>A c.8232T>A (p.Pro2744=) c.7611T>A (p.Pro2537=) c.8331T>A (p.Pro2777=) c.8829T>A (p.Pro2943=) c.6426T>A (p.Pro2142=)
2	g.237336269G>A	CA351191324	COL6A3	c.1476C>T c.8213C>T (p.Pro2738Leu) c.958C>T n.1098C>T c.8831C>T (p.Pro2944Leu) c.7007C>T (p.Pro2336Leu) c.7010C>T (p.Pro2337Leu) n.5273C>T c.8231C>T (p.Pro2744Leu) c.7610C>T (p.Pro2537Leu) c.8330C>T (p.Pro2777Leu) c.8828C>T (p.Pro2943Leu) c.6425C>T (p.Pro2142Leu)
2	g.237336269G>C	CA351191326	COL6A3	c.1476C>G c.8213C>G (p.Pro2738Arg) c.958C>G n.1098C>G c.8831C>G (p.Pro2944Arg) c.7007C>G (p.Pro2336Arg) c.7010C>G (p.Pro2337Arg) n.5273C>G c.8231C>G (p.Pro2744Arg) c.7610C>G (p.Pro2537Arg) c.8330C>G (p.Pro2777Arg) c.8828C>G (p.Pro2943Arg) c.6425C>G (p.Pro2142Arg)
2	g.237336269G>T	CA351191328	COL6A3	c.1476C>A c.8213C>A (p.Pro2738His) c.958C>A n.1098C>A c.8831C>A (p.Pro2944His) c.7007C>A (p.Pro2336His) c.7010C>A (p.Pro2337His) n.5273C>A c.8231C>A (p.Pro2744His) c.7610C>A (p.Pro2537His) c.8330C>A (p.Pro2777His) c.8828C>A (p.Pro2943His) c.6425C>A (p.Pro2142His)
2	g.237336270G>A	CA351191335	COL6A3	c.1475C>T c.8212C>T (p.Pro2738Ser) c.957C>T n.1097C>T c.8830C>T (p.Pro2944Ser) c.7006C>T (p.Pro2336Ser) c.7009C>T (p.Pro2337Ser) n.5272C>T c.8230C>T (p.Pro2744Ser) c.7609C>T (p.Pro2537Ser) c.8329C>T (p.Pro2777Ser) c.8827C>T (p.Pro2943Ser) c.6424C>T (p.Pro2142Ser)	dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.237336270G>C	CA351191331	COL6A3	c.1475C>G c.8212C>G (p.Pro2738Ala) c.957C>G n.1097C>G c.8830C>G (p.Pro2944Ala) c.7006C>G (p.Pro2336Ala) c.7009C>G (p.Pro2337Ala) n.5272C>G c.8230C>G (p.Pro2744Ala) c.7609C>G (p.Pro2537Ala) c.8329C>G (p.Pro2777Ala) c.8827C>G (p.Pro2943Ala) c.6424C>G (p.Pro2142Ala)
2	g.237336270G=	CA1337607109	COL6A3	c.1475C= c.8212C= (p.Pro2738=) c.957C= n.1097C= c.8830C= (p.Pro2944=) c.7006C= (p.Pro2336=) c.7009C= (p.Pro2337=) n.5272C= c.8230C= (p.Pro2744=) c.7609C= (p.Pro2537=) c.8329C= (p.Pro2777=) c.8827C= (p.Pro2943=) c.6424C= (p.Pro2142=)
2	g.237336270G>T	CA351191333	COL6A3	c.1475C>A c.8212C>A (p.Pro2738Thr) c.957C>A n.1097C>A c.8830C>A (p.Pro2944Thr) c.7006C>A (p.Pro2336Thr) c.7009C>A (p.Pro2337Thr) n.5272C>A c.8230C>A (p.Pro2744Thr) c.7609C>A (p.Pro2537Thr) c.8329C>A (p.Pro2777Thr) c.8827C>A (p.Pro2943Thr) c.6424C>A (p.Pro2142Thr)
2	g.237336271C>A	CA351191338	COL6A3	c.1474G>T c.8211G>T (p.Lys2737Asn) c.956G>T n.1096G>T c.8829G>T (p.Lys2943Asn) c.7005G>T (p.Lys2335Asn) c.7008G>T (p.Lys2336Asn) n.5271G>T c.8229G>T (p.Lys2743Asn) c.7608G>T (p.Lys2536Asn) c.8328G>T (p.Lys2776Asn) c.8826G>T (p.Lys2942Asn) c.6423G>T (p.Lys2141Asn)
2	g.237336271C>G	CA351191340	COL6A3	c.1474G>C c.8211G>C (p.Lys2737Asn) c.956G>C n.1096G>C c.8829G>C (p.Lys2943Asn) c.7005G>C (p.Lys2335Asn) c.7008G>C (p.Lys2336Asn) n.5271G>C c.8229G>C (p.Lys2743Asn) c.7608G>C (p.Lys2536Asn) c.8328G>C (p.Lys2776Asn) c.8826G>C (p.Lys2942Asn) c.6423G>C (p.Lys2141Asn)
2	g.237336271C>T	CA431701338	COL6A3	c.1474G>A c.8211G>A (p.Lys2737=) c.956G>A n.1096G>A c.8829G>A (p.Lys2943=) c.7005G>A (p.Lys2335=) c.7008G>A (p.Lys2336=) n.5271G>A c.8229G>A (p.Lys2743=) c.7608G>A (p.Lys2536=) c.8328G>A (p.Lys2776=) c.8826G>A (p.Lys2942=) c.6423G>A (p.Lys2141=)	gnomAD v4
2	g.237336272T>A	CA351191343	COL6A3	c.1473A>T c.8210A>T (p.Lys2737Met) c.955A>T n.1095A>T c.8828A>T (p.Lys2943Met) c.7004A>T (p.Lys2335Met) c.7007A>T (p.Lys2336Met) n.5270A>T c.8228A>T (p.Lys2743Met) c.7607A>T (p.Lys2536Met) c.8327A>T (p.Lys2776Met) c.8825A>T (p.Lys2942Met) c.6422A>T (p.Lys2141Met)
2	g.237336272T>C	CA351191346	COL6A3	c.1473A>G c.8210A>G (p.Lys2737Arg) c.955A>G n.1095A>G c.8828A>G (p.Lys2943Arg) c.7004A>G (p.Lys2335Arg) c.7007A>G (p.Lys2336Arg) n.5270A>G c.8228A>G (p.Lys2743Arg) c.7607A>G (p.Lys2536Arg) c.8327A>G (p.Lys2776Arg) c.8825A>G (p.Lys2942Arg) c.6422A>G (p.Lys2141Arg)	ClinVar dbSNP
2	g.237336272T>G	CA351191348	COL6A3	c.1473A>C c.8210A>C (p.Lys2737Thr) c.955A>C n.1095A>C c.8828A>C (p.Lys2943Thr) c.7004A>C (p.Lys2335Thr) c.7007A>C (p.Lys2336Thr) n.5270A>C c.8228A>C (p.Lys2743Thr) c.7607A>C (p.Lys2536Thr) c.8327A>C (p.Lys2776Thr) c.8825A>C (p.Lys2942Thr) c.6422A>C (p.Lys2141Thr)
2	g.237336272T=	CA1337607110	COL6A3	c.1473A= c.8210A= (p.Lys2737=) c.955A= n.1095A= c.8828A= (p.Lys2943=) c.7004A= (p.Lys2335=) c.7007A= (p.Lys2336=) n.5270A= c.8228A= (p.Lys2743=) c.7607A= (p.Lys2536=) c.8327A= (p.Lys2776=) c.8825A= (p.Lys2942=) c.6422A= (p.Lys2141=)
2	g.237336273T>A	CA351191350	COL6A3	c.1472A>T c.8209A>T (p.Lys2737Ter) c.954A>T n.1094A>T c.8827A>T (p.Lys2943Ter) c.7003A>T (p.Lys2335Ter) c.7006A>T (p.Lys2336Ter) n.5269A>T c.8227A>T (p.Lys2743Ter) c.7606A>T (p.Lys2536Ter) c.8326A>T (p.Lys2776Ter) c.8824A>T (p.Lys2942Ter) c.6421A>T (p.Lys2141Ter)
2	g.237336273T>C	CA351191352	COL6A3	c.1472A>G c.8209A>G (p.Lys2737Glu) c.954A>G n.1094A>G c.8827A>G (p.Lys2943Glu) c.7003A>G (p.Lys2335Glu) c.7006A>G (p.Lys2336Glu) n.5269A>G c.8227A>G (p.Lys2743Glu) c.7606A>G (p.Lys2536Glu) c.8326A>G (p.Lys2776Glu) c.8824A>G (p.Lys2942Glu) c.6421A>G (p.Lys2141Glu)
2	g.237336273T>G	CA351191354	COL6A3	c.1472A>C c.8209A>C (p.Lys2737Gln) c.954A>C n.1094A>C c.8827A>C (p.Lys2943Gln) c.7003A>C (p.Lys2335Gln) c.7006A>C (p.Lys2336Gln) n.5269A>C c.8227A>C (p.Lys2743Gln) c.7606A>C (p.Lys2536Gln) c.8326A>C (p.Lys2776Gln) c.8824A>C (p.Lys2942Gln) c.6421A>C (p.Lys2141Gln)
2	g.237336274C>A	CA431701362	COL6A3	c.1471G>T c.8208G>T (p.Ala2736=) c.953G>T n.1093G>T c.8826G>T (p.Ala2942=) c.7002G>T (p.Ala2334=) c.7005G>T (p.Ala2335=) n.5268G>T c.8226G>T (p.Ala2742=) c.7605G>T (p.Ala2535=) c.8325G>T (p.Ala2775=) c.8823G>T (p.Ala2941=) c.6420G>T (p.Ala2140=)	gnomAD v4
2	g.237336274C=	CA1337607111	COL6A3	c.1471G= c.8208G= (p.Ala2736=) c.953G= n.1093G= c.8826G= (p.Ala2942=) c.7002G= (p.Ala2334=) c.7005G= (p.Ala2335=) n.5268G= c.8226G= (p.Ala2742=) c.7605G= (p.Ala2535=) c.8325G= (p.Ala2775=) c.8823G= (p.Ala2941=) c.6420G= (p.Ala2140=)
2	g.237336274C>G	CA431701367	COL6A3	c.1471G>C c.8208G>C (p.Ala2736=) c.953G>C n.1093G>C c.8826G>C (p.Ala2942=) c.7002G>C (p.Ala2334=) c.7005G>C (p.Ala2335=) n.5268G>C c.8226G>C (p.Ala2742=) c.7605G>C (p.Ala2535=) c.8325G>C (p.Ala2775=) c.8823G>C (p.Ala2941=) c.6420G>C (p.Ala2140=)
2	g.237336274C>T	CA2187436	COL6A3	c.1471G>A c.8208G>A (p.Ala2736=) c.953G>A n.1093G>A c.8826G>A (p.Ala2942=) c.7002G>A (p.Ala2334=) c.7005G>A (p.Ala2335=) n.5268G>A c.8226G>A (p.Ala2742=) c.7605G>A (p.Ala2535=) c.8325G>A (p.Ala2775=) c.8823G>A (p.Ala2941=) c.6420G>A (p.Ala2140=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336275G>A	CA2187437	COL6A3	c.1470C>T c.8207C>T (p.Ala2736Val) c.952C>T n.1092C>T c.8825C>T (p.Ala2942Val) c.7001C>T (p.Ala2334Val) c.7004C>T (p.Ala2335Val) n.5267C>T c.8225C>T (p.Ala2742Val) c.7604C>T (p.Ala2535Val) c.8324C>T (p.Ala2775Val) c.8822C>T (p.Ala2941Val) c.6419C>T (p.Ala2140Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336275G>C	CA351191358	COL6A3	c.1470C>G c.8207C>G (p.Ala2736Gly) c.952C>G n.1092C>G c.8825C>G (p.Ala2942Gly) c.7001C>G (p.Ala2334Gly) c.7004C>G (p.Ala2335Gly) n.5267C>G c.8225C>G (p.Ala2742Gly) c.7604C>G (p.Ala2535Gly) c.8324C>G (p.Ala2775Gly) c.8822C>G (p.Ala2941Gly) c.6419C>G (p.Ala2140Gly)
2	g.237336275G=	CA1337607112	COL6A3	c.1470C= c.8207C= (p.Ala2736=) c.952C= n.1092C= c.8825C= (p.Ala2942=) c.7001C= (p.Ala2334=) c.7004C= (p.Ala2335=) n.5267C= c.8225C= (p.Ala2742=) c.7604C= (p.Ala2535=) c.8324C= (p.Ala2775=) c.8822C= (p.Ala2941=) c.6419C= (p.Ala2140=)
2	g.237336275G>T	CA351191360	COL6A3	c.1470C>A c.8207C>A (p.Ala2736Glu) c.952C>A n.1092C>A c.8825C>A (p.Ala2942Glu) c.7001C>A (p.Ala2334Glu) c.7004C>A (p.Ala2335Glu) n.5267C>A c.8225C>A (p.Ala2742Glu) c.7604C>A (p.Ala2535Glu) c.8324C>A (p.Ala2775Glu) c.8822C>A (p.Ala2941Glu) c.6419C>A (p.Ala2140Glu)	gnomAD v4
2	g.237336276C>A	CA351191366	COL6A3	c.1469G>T c.8206G>T (p.Ala2736Ser) c.951G>T n.1091G>T c.8824G>T (p.Ala2942Ser) c.7000G>T (p.Ala2334Ser) c.7003G>T (p.Ala2335Ser) n.5266G>T c.8224G>T (p.Ala2742Ser) c.7603G>T (p.Ala2535Ser) c.8323G>T (p.Ala2775Ser) c.8821G>T (p.Ala2941Ser) c.6418G>T (p.Ala2140Ser)
2	g.237336276C=	CA1337607113	COL6A3	c.1469G= c.8206G= (p.Ala2736=) c.951G= n.1091G= c.8824G= (p.Ala2942=) c.7000G= (p.Ala2334=) c.7003G= (p.Ala2335=) n.5266G= c.8224G= (p.Ala2742=) c.7603G= (p.Ala2535=) c.8323G= (p.Ala2775=) c.8821G= (p.Ala2941=) c.6418G= (p.Ala2140=)
2	g.237336276C>G	CA351191368	COL6A3	c.1469G>C c.8206G>C (p.Ala2736Pro) c.951G>C n.1091G>C c.8824G>C (p.Ala2942Pro) c.7000G>C (p.Ala2334Pro) c.7003G>C (p.Ala2335Pro) n.5266G>C c.8224G>C (p.Ala2742Pro) c.7603G>C (p.Ala2535Pro) c.8323G>C (p.Ala2775Pro) c.8821G>C (p.Ala2941Pro) c.6418G>C (p.Ala2140Pro)
2	g.237336276C>T	CA351191363	COL6A3	c.1469G>A c.8206G>A (p.Ala2736Thr) c.951G>A n.1091G>A c.8824G>A (p.Ala2942Thr) c.7000G>A (p.Ala2334Thr) c.7003G>A (p.Ala2335Thr) n.5266G>A c.8224G>A (p.Ala2742Thr) c.7603G>A (p.Ala2535Thr) c.8323G>A (p.Ala2775Thr) c.8821G>A (p.Ala2941Thr) c.6418G>A (p.Ala2140Thr)	dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.237336277T>A	CA431701405	COL6A3	c.1468A>T c.8205A>T (p.Ala2735=) c.950A>T n.1090A>T c.8823A>T (p.Ala2941=) c.6999A>T (p.Ala2333=) c.7002A>T (p.Ala2334=) n.5265A>T c.8223A>T (p.Ala2741=) c.7602A>T (p.Ala2534=) c.8322A>T (p.Ala2774=) c.8820A>T (p.Ala2940=) c.6417A>T (p.Ala2139=)
2	g.237336277T>C	CA431701408	COL6A3	c.1468A>G c.8205A>G (p.Ala2735=) c.950A>G n.1090A>G c.8823A>G (p.Ala2941=) c.6999A>G (p.Ala2333=) c.7002A>G (p.Ala2334=) n.5265A>G c.8223A>G (p.Ala2741=) c.7602A>G (p.Ala2534=) c.8322A>G (p.Ala2774=) c.8820A>G (p.Ala2940=) c.6417A>G (p.Ala2139=)
2	g.237336277T>G	CA431701414	COL6A3	c.1468A>C c.8205A>C (p.Ala2735=) c.950A>C n.1090A>C c.8823A>C (p.Ala2941=) c.6999A>C (p.Ala2333=) c.7002A>C (p.Ala2334=) n.5265A>C c.8223A>C (p.Ala2741=) c.7602A>C (p.Ala2534=) c.8322A>C (p.Ala2774=) c.8820A>C (p.Ala2940=) c.6417A>C (p.Ala2139=)
2	g.237336278G>A	CA148075	COL6A3	c.1467C>T c.8204C>T (p.Ala2735Val) c.949C>T n.1089C>T c.8822C>T (p.Ala2941Val) c.6998C>T (p.Ala2333Val) c.7001C>T (p.Ala2334Val) n.5264C>T c.8222C>T (p.Ala2741Val) c.7601C>T (p.Ala2534Val) c.8321C>T (p.Ala2774Val) c.8819C>T (p.Ala2940Val) c.6416C>T (p.Ala2139Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336278G>C	CA351191371	COL6A3	c.1467C>G c.8204C>G (p.Ala2735Gly) c.949C>G n.1089C>G c.8822C>G (p.Ala2941Gly) c.6998C>G (p.Ala2333Gly) c.7001C>G (p.Ala2334Gly) n.5264C>G c.8222C>G (p.Ala2741Gly) c.7601C>G (p.Ala2534Gly) c.8321C>G (p.Ala2774Gly) c.8819C>G (p.Ala2940Gly) c.6416C>G (p.Ala2139Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.237336278G=	CA1337607114	COL6A3	c.1467C= c.8204C= (p.Ala2735=) c.949C= n.1089C= c.8822C= (p.Ala2941=) c.6998C= (p.Ala2333=) c.7001C= (p.Ala2334=) n.5264C= c.8222C= (p.Ala2741=) c.7601C= (p.Ala2534=) c.8321C= (p.Ala2774=) c.8819C= (p.Ala2940=) c.6416C= (p.Ala2139=)
2	g.237336278G>T	CA351191375	COL6A3	c.1467C>A c.8204C>A (p.Ala2735Glu) c.949C>A n.1089C>A c.8822C>A (p.Ala2941Glu) c.6998C>A (p.Ala2333Glu) c.7001C>A (p.Ala2334Glu) n.5264C>A c.8222C>A (p.Ala2741Glu) c.7601C>A (p.Ala2534Glu) c.8321C>A (p.Ala2774Glu) c.8819C>A (p.Ala2940Glu) c.6416C>A (p.Ala2139Glu)
2	g.237336279C>A	CA351191378	COL6A3	c.1466G>T c.8203G>T (p.Ala2735Ser) c.948G>T n.1088G>T c.8821G>T (p.Ala2941Ser) c.6997G>T (p.Ala2333Ser) c.7000G>T (p.Ala2334Ser) n.5263G>T c.8221G>T (p.Ala2741Ser) c.7600G>T (p.Ala2534Ser) c.8320G>T (p.Ala2774Ser) c.8818G>T (p.Ala2940Ser) c.6415G>T (p.Ala2139Ser)
2	g.237336279C>G	CA351191380	COL6A3	c.1466G>C c.8203G>C (p.Ala2735Pro) c.948G>C n.1088G>C c.8821G>C (p.Ala2941Pro) c.6997G>C (p.Ala2333Pro) c.7000G>C (p.Ala2334Pro) n.5263G>C c.8221G>C (p.Ala2741Pro) c.7600G>C (p.Ala2534Pro) c.8320G>C (p.Ala2774Pro) c.8818G>C (p.Ala2940Pro) c.6415G>C (p.Ala2139Pro)
2	g.237336279C>T	CA351191382	COL6A3	c.1466G>A c.8203G>A (p.Ala2735Thr) c.948G>A n.1088G>A c.8821G>A (p.Ala2941Thr) c.6997G>A (p.Ala2333Thr) c.7000G>A (p.Ala2334Thr) n.5263G>A c.8221G>A (p.Ala2741Thr) c.7600G>A (p.Ala2534Thr) c.8320G>A (p.Ala2774Thr) c.8818G>A (p.Ala2940Thr) c.6415G>A (p.Ala2139Thr)
2	g.237336280C>A	CA431701427	COL6A3	c.1465G>T c.8202G>T (p.Thr2734=) c.947G>T n.1087G>T c.8820G>T (p.Thr2940=) c.6996G>T (p.Thr2332=) c.6999G>T (p.Thr2333=) n.5262G>T c.8220G>T (p.Thr2740=) c.7599G>T (p.Thr2533=) c.8319G>T (p.Thr2773=) c.8817G>T (p.Thr2939=) c.6414G>T (p.Thr2138=)
2	g.237336280C=	CA1337607115	COL6A3	c.1465G= c.8202G= (p.Thr2734=) c.947G= n.1087G= c.8820G= (p.Thr2940=) c.6996G= (p.Thr2332=) c.6999G= (p.Thr2333=) n.5262G= c.8220G= (p.Thr2740=) c.7599G= (p.Thr2533=) c.8319G= (p.Thr2773=) c.8817G= (p.Thr2939=) c.6414G= (p.Thr2138=)
2	g.237336280C>G	CA67830523	COL6A3	c.1465G>C c.8202G>C (p.Thr2734=) c.947G>C n.1087G>C c.8820G>C (p.Thr2940=) c.6996G>C (p.Thr2332=) c.6999G>C (p.Thr2333=) n.5262G>C c.8220G>C (p.Thr2740=) c.7599G>C (p.Thr2533=) c.8319G>C (p.Thr2773=) c.8817G>C (p.Thr2939=) c.6414G>C (p.Thr2138=)	dbSNP
2	g.237336280C>T	CA148072	COL6A3	c.1465G>A c.8202G>A (p.Thr2734=) c.947G>A n.1087G>A c.8820G>A (p.Thr2940=) c.6996G>A (p.Thr2332=) c.6999G>A (p.Thr2333=) n.5262G>A c.8220G>A (p.Thr2740=) c.7599G>A (p.Thr2533=) c.8319G>A (p.Thr2773=) c.8817G>A (p.Thr2939=) c.6414G>A (p.Thr2138=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336281G>A	CA245531	COL6A3	c.1464C>T c.8201C>T (p.Thr2734Met) c.946C>T n.1086C>T c.8819C>T (p.Thr2940Met) c.6995C>T (p.Thr2332Met) c.6998C>T (p.Thr2333Met) n.5261C>T c.8219C>T (p.Thr2740Met) c.7598C>T (p.Thr2533Met) c.8318C>T (p.Thr2773Met) c.8816C>T (p.Thr2939Met) c.6413C>T (p.Thr2138Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336281G>C	CA351191388	COL6A3	c.1464C>G c.8201C>G (p.Thr2734Arg) c.946C>G n.1086C>G c.8819C>G (p.Thr2940Arg) c.6995C>G (p.Thr2332Arg) c.6998C>G (p.Thr2333Arg) n.5261C>G c.8219C>G (p.Thr2740Arg) c.7598C>G (p.Thr2533Arg) c.8318C>G (p.Thr2773Arg) c.8816C>G (p.Thr2939Arg) c.6413C>G (p.Thr2138Arg)
2	g.237336281G=	CA1337607116	COL6A3	c.1464C= c.8201C= (p.Thr2734=) c.946C= n.1086C= c.8819C= (p.Thr2940=) c.6995C= (p.Thr2332=) c.6998C= (p.Thr2333=) n.5261C= c.8219C= (p.Thr2740=) c.7598C= (p.Thr2533=) c.8318C= (p.Thr2773=) c.8816C= (p.Thr2939=) c.6413C= (p.Thr2138=)
2	g.237336281G>T	CA351191389	COL6A3	c.1464C>A c.8201C>A (p.Thr2734Lys) c.946C>A n.1086C>A c.8819C>A (p.Thr2940Lys) c.6995C>A (p.Thr2332Lys) c.6998C>A (p.Thr2333Lys) n.5261C>A c.8219C>A (p.Thr2740Lys) c.7598C>A (p.Thr2533Lys) c.8318C>A (p.Thr2773Lys) c.8816C>A (p.Thr2939Lys) c.6413C>A (p.Thr2138Lys)	dbSNP
2	g.237336282T>A	CA351191393	COL6A3	c.1463A>T c.8200A>T (p.Thr2734Ser) c.945A>T n.1085A>T c.8818A>T (p.Thr2940Ser) c.6994A>T (p.Thr2332Ser) c.6997A>T (p.Thr2333Ser) n.5260A>T c.8218A>T (p.Thr2740Ser) c.7597A>T (p.Thr2533Ser) c.8317A>T (p.Thr2773Ser) c.8815A>T (p.Thr2939Ser) c.6412A>T (p.Thr2138Ser)
2	g.237336282T>C	CA351191395	COL6A3	c.1463A>G c.8200A>G (p.Thr2734Ala) c.945A>G n.1085A>G c.8818A>G (p.Thr2940Ala) c.6994A>G (p.Thr2332Ala) c.6997A>G (p.Thr2333Ala) n.5260A>G c.8218A>G (p.Thr2740Ala) c.7597A>G (p.Thr2533Ala) c.8317A>G (p.Thr2773Ala) c.8815A>G (p.Thr2939Ala) c.6412A>G (p.Thr2138Ala)
2	g.237336282T>G	CA351191397	COL6A3	c.1463A>C c.8200A>C (p.Thr2734Pro) c.945A>C n.1085A>C c.8818A>C (p.Thr2940Pro) c.6994A>C (p.Thr2332Pro) c.6997A>C (p.Thr2333Pro) n.5260A>C c.8218A>C (p.Thr2740Pro) c.7597A>C (p.Thr2533Pro) c.8317A>C (p.Thr2773Pro) c.8815A>C (p.Thr2939Pro) c.6412A>C (p.Thr2138Pro)
2	g.237336283del	CA2663792158	COL6A3	c.1463del c.8200del (p.Thr2734ArgfsTer6) c.945del n.1085del c.8818del (p.Thr2940ArgfsTer6) c.6994del (p.Thr2332ArgfsTer6) c.6997del (p.Thr2333ArgfsTer6) n.5260del c.8218del (p.Thr2740ArgfsTer6) c.7597del (p.Thr2533ArgfsTer6) c.8317del (p.Thr2773ArgfsTer6) c.8815del (p.Thr2939ArgfsTer6) c.6412del (p.Thr2138ArgfsTer6)	gnomAD v4
2	g.237336283T>A	CA431701450	COL6A3	c.1462A>T c.8199A>T (p.Ala2733=) c.944A>T n.1084A>T c.8817A>T (p.Ala2939=) c.6993A>T (p.Ala2331=) c.6996A>T (p.Ala2332=) n.5259A>T c.8217A>T (p.Ala2739=) c.7596A>T (p.Ala2532=) c.8316A>T (p.Ala2772=) c.8814A>T (p.Ala2938=) c.6411A>T (p.Ala2137=)
2	g.237336283T>C	CA431701448	COL6A3	c.1462A>G c.8199A>G (p.Ala2733=) c.944A>G n.1084A>G c.8817A>G (p.Ala2939=) c.6993A>G (p.Ala2331=) c.6996A>G (p.Ala2332=) n.5259A>G c.8217A>G (p.Ala2739=) c.7596A>G (p.Ala2532=) c.8316A>G (p.Ala2772=) c.8814A>G (p.Ala2938=) c.6411A>G (p.Ala2137=)
2	g.237336283T>G	CA431701449	COL6A3	c.1462A>C c.8199A>C (p.Ala2733=) c.944A>C n.1084A>C c.8817A>C (p.Ala2939=) c.6993A>C (p.Ala2331=) c.6996A>C (p.Ala2332=) n.5259A>C c.8217A>C (p.Ala2739=) c.7596A>C (p.Ala2532=) c.8316A>C (p.Ala2772=) c.8814A>C (p.Ala2938=) c.6411A>C (p.Ala2137=)
2	g.237336284G>A	CA351191400	COL6A3	c.1461C>T c.8198C>T (p.Ala2733Val) c.943C>T n.1083C>T c.8816C>T (p.Ala2939Val) c.6992C>T (p.Ala2331Val) c.6995C>T (p.Ala2332Val) n.5258C>T c.8216C>T (p.Ala2739Val) c.7595C>T (p.Ala2532Val) c.8315C>T (p.Ala2772Val) c.8813C>T (p.Ala2938Val) c.6410C>T (p.Ala2137Val)
2	g.237336284G>C	CA351191402	COL6A3	c.1461C>G c.8198C>G (p.Ala2733Gly) c.943C>G n.1083C>G c.8816C>G (p.Ala2939Gly) c.6992C>G (p.Ala2331Gly) c.6995C>G (p.Ala2332Gly) n.5258C>G c.8216C>G (p.Ala2739Gly) c.7595C>G (p.Ala2532Gly) c.8315C>G (p.Ala2772Gly) c.8813C>G (p.Ala2938Gly) c.6410C>G (p.Ala2137Gly)
2	g.237336284G>T	CA351191404	COL6A3	c.1461C>A c.8198C>A (p.Ala2733Glu) c.943C>A n.1083C>A c.8816C>A (p.Ala2939Glu) c.6992C>A (p.Ala2331Glu) c.6995C>A (p.Ala2332Glu) n.5258C>A c.8216C>A (p.Ala2739Glu) c.7595C>A (p.Ala2532Glu) c.8315C>A (p.Ala2772Glu) c.8813C>A (p.Ala2938Glu) c.6410C>A (p.Ala2137Glu)
2	g.237336285C>A	CA351191411	COL6A3	c.1460G>T c.8197G>T (p.Ala2733Ser) c.942G>T n.1082G>T c.8815G>T (p.Ala2939Ser) c.6991G>T (p.Ala2331Ser) c.6994G>T (p.Ala2332Ser) n.5257G>T c.8215G>T (p.Ala2739Ser) c.7594G>T (p.Ala2532Ser) c.8314G>T (p.Ala2772Ser) c.8812G>T (p.Ala2938Ser) c.6409G>T (p.Ala2137Ser)
2	g.237336285C>G	CA351191407	COL6A3	c.1460G>C c.8197G>C (p.Ala2733Pro) c.942G>C n.1082G>C c.8815G>C (p.Ala2939Pro) c.6991G>C (p.Ala2331Pro) c.6994G>C (p.Ala2332Pro) n.5257G>C c.8215G>C (p.Ala2739Pro) c.7594G>C (p.Ala2532Pro) c.8314G>C (p.Ala2772Pro) c.8812G>C (p.Ala2938Pro) c.6409G>C (p.Ala2137Pro)
2	g.237336285C>T	CA351191409	COL6A3	c.1460G>A c.8197G>A (p.Ala2733Thr) c.942G>A n.1082G>A c.8815G>A (p.Ala2939Thr) c.6991G>A (p.Ala2331Thr) c.6994G>A (p.Ala2332Thr) n.5257G>A c.8215G>A (p.Ala2739Thr) c.7594G>A (p.Ala2532Thr) c.8314G>A (p.Ala2772Thr) c.8812G>A (p.Ala2938Thr) c.6409G>A (p.Ala2137Thr)
2	g.237336286T>A	CA431701469	COL6A3	c.1459A>T c.8196A>T (p.Pro2732=) c.941A>T n.1081A>T c.8814A>T (p.Pro2938=) c.6990A>T (p.Pro2330=) c.6993A>T (p.Pro2331=) n.5256A>T c.8214A>T (p.Pro2738=) c.7593A>T (p.Pro2531=) c.8313A>T (p.Pro2771=) c.8811A>T (p.Pro2937=) c.6408A>T (p.Pro2136=)
2	g.237336286T>C	CA431701473	COL6A3	c.1459A>G c.8196A>G (p.Pro2732=) c.941A>G n.1081A>G c.8814A>G (p.Pro2938=) c.6990A>G (p.Pro2330=) c.6993A>G (p.Pro2331=) n.5256A>G c.8214A>G (p.Pro2738=) c.7593A>G (p.Pro2531=) c.8313A>G (p.Pro2771=) c.8811A>G (p.Pro2937=) c.6408A>G (p.Pro2136=)	dbSNP
2	g.237336286T>G	CA431701478	COL6A3	c.1459A>C c.8196A>C (p.Pro2732=) c.941A>C n.1081A>C c.8814A>C (p.Pro2938=) c.6990A>C (p.Pro2330=) c.6993A>C (p.Pro2331=) n.5256A>C c.8214A>C (p.Pro2738=) c.7593A>C (p.Pro2531=) c.8313A>C (p.Pro2771=) c.8811A>C (p.Pro2937=) c.6408A>C (p.Pro2136=)
2	g.237336286T=	CA1337607117	COL6A3	c.1459A= c.8196A= (p.Pro2732=) c.941A= n.1081A= c.8814A= (p.Pro2938=) c.6990A= (p.Pro2330=) c.6993A= (p.Pro2331=) n.5256A= c.8214A= (p.Pro2738=) c.7593A= (p.Pro2531=) c.8313A= (p.Pro2771=) c.8811A= (p.Pro2937=) c.6408A= (p.Pro2136=)
2	g.237336287G>A	CA351191414	COL6A3	c.1458C>T c.8195C>T (p.Pro2732Leu) c.940C>T n.1080C>T c.8813C>T (p.Pro2938Leu) c.6989C>T (p.Pro2330Leu) c.6992C>T (p.Pro2331Leu) n.5255C>T c.8213C>T (p.Pro2738Leu) c.7592C>T (p.Pro2531Leu) c.8312C>T (p.Pro2771Leu) c.8810C>T (p.Pro2937Leu) c.6407C>T (p.Pro2136Leu)
2	g.237336287G>C	CA351191416	COL6A3	c.1458C>G c.8195C>G (p.Pro2732Arg) c.940C>G n.1080C>G c.8813C>G (p.Pro2938Arg) c.6989C>G (p.Pro2330Arg) c.6992C>G (p.Pro2331Arg) n.5255C>G c.8213C>G (p.Pro2738Arg) c.7592C>G (p.Pro2531Arg) c.8312C>G (p.Pro2771Arg) c.8810C>G (p.Pro2937Arg) c.6407C>G (p.Pro2136Arg)
2	g.237336287G>T	CA351191418	COL6A3	c.1458C>A c.8195C>A (p.Pro2732Gln) c.940C>A n.1080C>A c.8813C>A (p.Pro2938Gln) c.6989C>A (p.Pro2330Gln) c.6992C>A (p.Pro2331Gln) n.5255C>A c.8213C>A (p.Pro2738Gln) c.7592C>A (p.Pro2531Gln) c.8312C>A (p.Pro2771Gln) c.8810C>A (p.Pro2937Gln) c.6407C>A (p.Pro2136Gln)
2	g.237336288G>A	CA351191421	COL6A3	c.1457C>T c.8194C>T (p.Pro2732Ser) c.939C>T n.1079C>T c.8812C>T (p.Pro2938Ser) c.6988C>T (p.Pro2330Ser) c.6991C>T (p.Pro2331Ser) n.5254C>T c.8212C>T (p.Pro2738Ser) c.7591C>T (p.Pro2531Ser) c.8311C>T (p.Pro2771Ser) c.8809C>T (p.Pro2937Ser) c.6406C>T (p.Pro2136Ser)
2	g.237336288G>C	CA351191423	COL6A3	c.1457C>G c.8194C>G (p.Pro2732Ala) c.939C>G n.1079C>G c.8812C>G (p.Pro2938Ala) c.6988C>G (p.Pro2330Ala) c.6991C>G (p.Pro2331Ala) n.5254C>G c.8212C>G (p.Pro2738Ala) c.7591C>G (p.Pro2531Ala) c.8311C>G (p.Pro2771Ala) c.8809C>G (p.Pro2937Ala) c.6406C>G (p.Pro2136Ala)
2	g.237336288G>T	CA351191425	COL6A3	c.1457C>A c.8194C>A (p.Pro2732Thr) c.939C>A n.1079C>A c.8812C>A (p.Pro2938Thr) c.6988C>A (p.Pro2330Thr) c.6991C>A (p.Pro2331Thr) n.5254C>A c.8212C>A (p.Pro2738Thr) c.7591C>A (p.Pro2531Thr) c.8311C>A (p.Pro2771Thr) c.8809C>A (p.Pro2937Thr) c.6406C>A (p.Pro2136Thr)
2	g.237336289C>A	CA351191428	COL6A3	c.1456G>T c.8193G>T (p.Lys2731Asn) c.938G>T n.1078G>T c.8811G>T (p.Lys2937Asn) c.6987G>T (p.Lys2329Asn) c.6990G>T (p.Lys2330Asn) n.5253G>T c.8211G>T (p.Lys2737Asn) c.7590G>T (p.Lys2530Asn) c.8310G>T (p.Lys2770Asn) c.8808G>T (p.Lys2936Asn) c.6405G>T (p.Lys2135Asn)
2	g.237336289C>G	CA351191429	COL6A3	c.1456G>C c.8193G>C (p.Lys2731Asn) c.938G>C n.1078G>C c.8811G>C (p.Lys2937Asn) c.6987G>C (p.Lys2329Asn) c.6990G>C (p.Lys2330Asn) n.5253G>C c.8211G>C (p.Lys2737Asn) c.7590G>C (p.Lys2530Asn) c.8310G>C (p.Lys2770Asn) c.8808G>C (p.Lys2936Asn) c.6405G>C (p.Lys2135Asn)
2	g.237336289C>T	CA431701509	COL6A3	c.1456G>A c.8193G>A (p.Lys2731=) c.938G>A n.1078G>A c.8811G>A (p.Lys2937=) c.6987G>A (p.Lys2329=) c.6990G>A (p.Lys2330=) n.5253G>A c.8211G>A (p.Lys2737=) c.7590G>A (p.Lys2530=) c.8310G>A (p.Lys2770=) c.8808G>A (p.Lys2936=) c.6405G>A (p.Lys2135=)
2	g.237336290T>A	CA351191432	COL6A3	c.1455A>T c.8192A>T (p.Lys2731Met) c.937A>T n.1077A>T c.8810A>T (p.Lys2937Met) c.6986A>T (p.Lys2329Met) c.6989A>T (p.Lys2330Met) n.5252A>T c.8210A>T (p.Lys2737Met) c.7589A>T (p.Lys2530Met) c.8309A>T (p.Lys2770Met) c.8807A>T (p.Lys2936Met) c.6404A>T (p.Lys2135Met)
2	g.237336290T>C	CA2187438	COL6A3	c.1455A>G c.8192A>G (p.Lys2731Arg) c.937A>G n.1077A>G c.8810A>G (p.Lys2937Arg) c.6986A>G (p.Lys2329Arg) c.6989A>G (p.Lys2330Arg) n.5252A>G c.8210A>G (p.Lys2737Arg) c.7589A>G (p.Lys2530Arg) c.8309A>G (p.Lys2770Arg) c.8807A>G (p.Lys2936Arg) c.6404A>G (p.Lys2135Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336290T>G	CA351191436	COL6A3	c.1455A>C c.8192A>C (p.Lys2731Thr) c.937A>C n.1077A>C c.8810A>C (p.Lys2937Thr) c.6986A>C (p.Lys2329Thr) c.6989A>C (p.Lys2330Thr) n.5252A>C c.8210A>C (p.Lys2737Thr) c.7589A>C (p.Lys2530Thr) c.8309A>C (p.Lys2770Thr) c.8807A>C (p.Lys2936Thr) c.6404A>C (p.Lys2135Thr)
2	g.237336290T=	CA1337607118	COL6A3	c.1455A= c.8192A= (p.Lys2731=) c.937A= n.1077A= c.8810A= (p.Lys2937=) c.6986A= (p.Lys2329=) c.6989A= (p.Lys2330=) n.5252A= c.8210A= (p.Lys2737=) c.7589A= (p.Lys2530=) c.8309A= (p.Lys2770=) c.8807A= (p.Lys2936=) c.6404A= (p.Lys2135=)
2	g.237336291T>A	CA351191444	COL6A3	c.1454A>T c.8191A>T (p.Lys2731Ter) c.936A>T n.1076A>T c.8809A>T (p.Lys2937Ter) c.6985A>T (p.Lys2329Ter) c.6988A>T (p.Lys2330Ter) n.5251A>T c.8209A>T (p.Lys2737Ter) c.7588A>T (p.Lys2530Ter) c.8308A>T (p.Lys2770Ter) c.8806A>T (p.Lys2936Ter) c.6403A>T (p.Lys2135Ter)
2	g.237336291T>C	CA351191442	COL6A3	c.1454A>G c.8191A>G (p.Lys2731Glu) c.936A>G n.1076A>G c.8809A>G (p.Lys2937Glu) c.6985A>G (p.Lys2329Glu) c.6988A>G (p.Lys2330Glu) n.5251A>G c.8209A>G (p.Lys2737Glu) c.7588A>G (p.Lys2530Glu) c.8308A>G (p.Lys2770Glu) c.8806A>G (p.Lys2936Glu) c.6403A>G (p.Lys2135Glu)
2	g.237336291T>G	CA351191439	COL6A3	c.1454A>C c.8191A>C (p.Lys2731Gln) c.936A>C n.1076A>C c.8809A>C (p.Lys2937Gln) c.6985A>C (p.Lys2329Gln) c.6988A>C (p.Lys2330Gln) n.5251A>C c.8209A>C (p.Lys2737Gln) c.7588A>C (p.Lys2530Gln) c.8308A>C (p.Lys2770Gln) c.8806A>C (p.Lys2936Gln) c.6403A>C (p.Lys2135Gln)
2	g.237336291_237336297delinsTCACCGC	CA1337607119	COL6A3	c.1448_1454delinsGCGGTGA c.8185_8191delinsGCGGTGA (p.Ala2729=) c.930_936delinsGCGGTGA n.1070_1076delinsGCGGTGA c.8803_8809delinsGCGGTGA (p.Ala2935=) c.6979_6985delinsGCGGTGA (p.Ala2327=) c.6982_6988delinsGCGGTGA (p.Ala2328=) n.5245_5251delinsGCGGTGA c.8203_8209delinsGCGGTGA (p.Ala2735=) c.7582_7588delinsGCGGTGA (p.Ala2528=) c.8302_8308delinsGCGGTGA (p.Ala2768=) c.8800_8806delinsGCGGTGA (p.Ala2934=) c.6397_6403delinsGCGGTGA (p.Ala2133=)
2	g.237336292C>A	CA431701535	COL6A3	c.1453G>T c.8190G>T (p.Val2730=) c.935G>T n.1075G>T c.8808G>T (p.Val2936=) c.6984G>T (p.Val2328=) c.6987G>T (p.Val2329=) n.5250G>T c.8208G>T (p.Val2736=) c.7587G>T (p.Val2529=) c.8307G>T (p.Val2769=) c.8805G>T (p.Val2935=) c.6402G>T (p.Val2134=)	COSMIC
2	g.237336292C=	CA1337607120	COL6A3	c.1453G= c.8190G= (p.Val2730=) c.935G= n.1075G= c.8808G= (p.Val2936=) c.6984G= (p.Val2328=) c.6987G= (p.Val2329=) n.5250G= c.8208G= (p.Val2736=) c.7587G= (p.Val2529=) c.8307G= (p.Val2769=) c.8805G= (p.Val2935=) c.6402G= (p.Val2134=)
2	g.237336292C>G	CA431701538	COL6A3	c.1453G>C c.8190G>C (p.Val2730=) c.935G>C n.1075G>C c.8808G>C (p.Val2936=) c.6984G>C (p.Val2328=) c.6987G>C (p.Val2329=) n.5250G>C c.8208G>C (p.Val2736=) c.7587G>C (p.Val2529=) c.8307G>C (p.Val2769=) c.8805G>C (p.Val2935=) c.6402G>C (p.Val2134=)
2	g.237336292C>T	CA2187439	COL6A3	c.1453G>A c.8190G>A (p.Val2730=) c.935G>A n.1075G>A c.8808G>A (p.Val2936=) c.6984G>A (p.Val2328=) c.6987G>A (p.Val2329=) n.5250G>A c.8208G>A (p.Val2736=) c.7587G>A (p.Val2529=) c.8307G>A (p.Val2769=) c.8805G>A (p.Val2935=) c.6402G>A (p.Val2134=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336295_237336300del	CA540749774	COL6A3	c.1448_1453del c.8185_8190del (p.Ala2729_Val2730del) c.930_935del n.1070_1075del c.8803_8808del (p.Ala2935_Val2936del) c.6979_6984del (p.Ala2327_Val2328del) c.6982_6987del (p.Ala2328_Val2329del) n.5245_5250del c.8203_8208del (p.Ala2735_Val2736del) c.7582_7587del (p.Ala2528_Val2529del) c.8302_8307del (p.Ala2768_Val2769del) c.8800_8805del (p.Ala2934_Val2935del) c.6397_6402del (p.Ala2133_Val2134del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336293A=	CA1337607121	COL6A3	c.1452T= c.8189T= (p.Val2730=) c.934T= n.1074T= c.8807T= (p.Val2936=) c.6983T= (p.Val2328=) c.6986T= (p.Val2329=) n.5249T= c.8207T= (p.Val2736=) c.7586T= (p.Val2529=) c.8306T= (p.Val2769=) c.8804T= (p.Val2935=) c.6401T= (p.Val2134=)
2	g.237336293A>C	CA351191449	COL6A3	c.1452T>G c.8189T>G (p.Val2730Gly) c.934T>G n.1074T>G c.8807T>G (p.Val2936Gly) c.6983T>G (p.Val2328Gly) c.6986T>G (p.Val2329Gly) n.5249T>G c.8207T>G (p.Val2736Gly) c.7586T>G (p.Val2529Gly) c.8306T>G (p.Val2769Gly) c.8804T>G (p.Val2935Gly) c.6401T>G (p.Val2134Gly)
2	g.237336293A>G	CA351191451	COL6A3	c.1452T>C c.8189T>C (p.Val2730Ala) c.934T>C n.1074T>C c.8807T>C (p.Val2936Ala) c.6983T>C (p.Val2328Ala) c.6986T>C (p.Val2329Ala) n.5249T>C c.8207T>C (p.Val2736Ala) c.7586T>C (p.Val2529Ala) c.8306T>C (p.Val2769Ala) c.8804T>C (p.Val2935Ala) c.6401T>C (p.Val2134Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336293A>T	CA351191475	COL6A3	c.1452T>A c.8189T>A (p.Val2730Glu) c.934T>A n.1074T>A c.8807T>A (p.Val2936Glu) c.6983T>A (p.Val2328Glu) c.6986T>A (p.Val2329Glu) n.5249T>A c.8207T>A (p.Val2736Glu) c.7586T>A (p.Val2529Glu) c.8306T>A (p.Val2769Glu) c.8804T>A (p.Val2935Glu) c.6401T>A (p.Val2134Glu)
2	g.237336294C>A	CA351191479	COL6A3	c.1451G>T c.8188G>T (p.Val2730Leu) c.933G>T n.1073G>T c.8806G>T (p.Val2936Leu) c.6982G>T (p.Val2328Leu) c.6985G>T (p.Val2329Leu) n.5248G>T c.8206G>T (p.Val2736Leu) c.7585G>T (p.Val2529Leu) c.8305G>T (p.Val2769Leu) c.8803G>T (p.Val2935Leu) c.6400G>T (p.Val2134Leu)
2	g.237336294C>G	CA351191481	COL6A3	c.1451G>C c.8188G>C (p.Val2730Leu) c.933G>C n.1073G>C c.8806G>C (p.Val2936Leu) c.6982G>C (p.Val2328Leu) c.6985G>C (p.Val2329Leu) n.5248G>C c.8206G>C (p.Val2736Leu) c.7585G>C (p.Val2529Leu) c.8305G>C (p.Val2769Leu) c.8803G>C (p.Val2935Leu) c.6400G>C (p.Val2134Leu)
2	g.237336294C>T	CA351191483	COL6A3	c.1451G>A c.8188G>A (p.Val2730Met) c.933G>A n.1073G>A c.8806G>A (p.Val2936Met) c.6982G>A (p.Val2328Met) c.6985G>A (p.Val2329Met) n.5248G>A c.8206G>A (p.Val2736Met) c.7585G>A (p.Val2529Met) c.8305G>A (p.Val2769Met) c.8803G>A (p.Val2935Met) c.6400G>A (p.Val2134Met)	gnomAD v4
2	g.237336295C>A	CA431701561	COL6A3	c.1450G>T c.8187G>T (p.Ala2729=) c.932G>T n.1072G>T c.8805G>T (p.Ala2935=) c.6981G>T (p.Ala2327=) c.6984G>T (p.Ala2328=) n.5247G>T c.8205G>T (p.Ala2735=) c.7584G>T (p.Ala2528=) c.8304G>T (p.Ala2768=) c.8802G>T (p.Ala2934=) c.6399G>T (p.Ala2133=)
2	g.237336295C=	CA1337607122	COL6A3	c.1450G= c.8187G= (p.Ala2729=) c.932G= n.1072G= c.8805G= (p.Ala2935=) c.6981G= (p.Ala2327=) c.6984G= (p.Ala2328=) n.5247G= c.8205G= (p.Ala2735=) c.7584G= (p.Ala2528=) c.8304G= (p.Ala2768=) c.8802G= (p.Ala2934=) c.6399G= (p.Ala2133=)
2	g.237336295C>G	CA431701557	COL6A3	c.1450G>C c.8187G>C (p.Ala2729=) c.932G>C n.1072G>C c.8805G>C (p.Ala2935=) c.6981G>C (p.Ala2327=) c.6984G>C (p.Ala2328=) n.5247G>C c.8205G>C (p.Ala2735=) c.7584G>C (p.Ala2528=) c.8304G>C (p.Ala2768=) c.8802G>C (p.Ala2934=) c.6399G>C (p.Ala2133=)
2	g.237336295C>T	CA2187440	COL6A3	c.1450G>A c.8187G>A (p.Ala2729=) c.932G>A n.1072G>A c.8805G>A (p.Ala2935=) c.6981G>A (p.Ala2327=) c.6984G>A (p.Ala2328=) n.5247G>A c.8205G>A (p.Ala2735=) c.7584G>A (p.Ala2528=) c.8304G>A (p.Ala2768=) c.8802G>A (p.Ala2934=) c.6399G>A (p.Ala2133=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336296G>A	CA2187441	COL6A3	c.1449C>T c.8186C>T (p.Ala2729Val) c.931C>T n.1071C>T c.8804C>T (p.Ala2935Val) c.6980C>T (p.Ala2327Val) c.6983C>T (p.Ala2328Val) n.5246C>T c.8204C>T (p.Ala2735Val) c.7583C>T (p.Ala2528Val) c.8303C>T (p.Ala2768Val) c.8801C>T (p.Ala2934Val) c.6398C>T (p.Ala2133Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336296G>C	CA351191489	COL6A3	c.1449C>G c.8186C>G (p.Ala2729Gly) c.931C>G n.1071C>G c.8804C>G (p.Ala2935Gly) c.6980C>G (p.Ala2327Gly) c.6983C>G (p.Ala2328Gly) n.5246C>G c.8204C>G (p.Ala2735Gly) c.7583C>G (p.Ala2528Gly) c.8303C>G (p.Ala2768Gly) c.8801C>G (p.Ala2934Gly) c.6398C>G (p.Ala2133Gly)
2	g.237336296G=	CA1337607123	COL6A3	c.1449C= c.8186C= (p.Ala2729=) c.931C= n.1071C= c.8804C= (p.Ala2935=) c.6980C= (p.Ala2327=) c.6983C= (p.Ala2328=) n.5246C= c.8204C= (p.Ala2735=) c.7583C= (p.Ala2528=) c.8303C= (p.Ala2768=) c.8801C= (p.Ala2934=) c.6398C= (p.Ala2133=)
2	g.237336296G>T	CA2187442	COL6A3	c.1449C>A c.8186C>A (p.Ala2729Glu) c.931C>A n.1071C>A c.8804C>A (p.Ala2935Glu) c.6980C>A (p.Ala2327Glu) c.6983C>A (p.Ala2328Glu) n.5246C>A c.8204C>A (p.Ala2735Glu) c.7583C>A (p.Ala2528Glu) c.8303C>A (p.Ala2768Glu) c.8801C>A (p.Ala2934Glu) c.6398C>A (p.Ala2133Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336297C>A	CA351191493	COL6A3	c.1448G>T c.8185G>T (p.Ala2729Ser) c.930G>T n.1070G>T c.8803G>T (p.Ala2935Ser) c.6979G>T (p.Ala2327Ser) c.6982G>T (p.Ala2328Ser) n.5245G>T c.8203G>T (p.Ala2735Ser) c.7582G>T (p.Ala2528Ser) c.8302G>T (p.Ala2768Ser) c.8800G>T (p.Ala2934Ser) c.6397G>T (p.Ala2133Ser)
2	g.237336297C>G	CA351191495	COL6A3	c.1448G>C c.8185G>C (p.Ala2729Pro) c.930G>C n.1070G>C c.8803G>C (p.Ala2935Pro) c.6979G>C (p.Ala2327Pro) c.6982G>C (p.Ala2328Pro) n.5245G>C c.8203G>C (p.Ala2735Pro) c.7582G>C (p.Ala2528Pro) c.8302G>C (p.Ala2768Pro) c.8800G>C (p.Ala2934Pro) c.6397G>C (p.Ala2133Pro)
2	g.237336297C>T	CA351191505	COL6A3	c.1448G>A c.8185G>A (p.Ala2729Thr) c.930G>A n.1070G>A c.8803G>A (p.Ala2935Thr) c.6979G>A (p.Ala2327Thr) c.6982G>A (p.Ala2328Thr) n.5245G>A c.8203G>A (p.Ala2735Thr) c.7582G>A (p.Ala2528Thr) c.8302G>A (p.Ala2768Thr) c.8800G>A (p.Ala2934Thr) c.6397G>A (p.Ala2133Thr)	gnomAD v4
2	g.237336298C>A	CA431701590	COL6A3	c.1447G>T c.8184G>T (p.Val2728=) c.929G>T n.1069G>T c.8802G>T (p.Val2934=) c.6978G>T (p.Val2326=) c.6981G>T (p.Val2327=) n.5244G>T c.8202G>T (p.Val2734=) c.7581G>T (p.Val2527=) c.8301G>T (p.Val2767=) c.8799G>T (p.Val2933=) c.6396G>T (p.Val2132=)
2	g.237336298C>G	CA431701593	COL6A3	c.1447G>C c.8184G>C (p.Val2728=) c.929G>C n.1069G>C c.8802G>C (p.Val2934=) c.6978G>C (p.Val2326=) c.6981G>C (p.Val2327=) n.5244G>C c.8202G>C (p.Val2734=) c.7581G>C (p.Val2527=) c.8301G>C (p.Val2767=) c.8799G>C (p.Val2933=) c.6396G>C (p.Val2132=)
2	g.237336298C>T	CA431701596	COL6A3	c.1447G>A c.8184G>A (p.Val2728=) c.929G>A n.1069G>A c.8802G>A (p.Val2934=) c.6978G>A (p.Val2326=) c.6981G>A (p.Val2327=) n.5244G>A c.8202G>A (p.Val2734=) c.7581G>A (p.Val2527=) c.8301G>A (p.Val2767=) c.8799G>A (p.Val2933=) c.6396G>A (p.Val2132=)
2	g.237336299A=	CA1337607124	COL6A3	c.1446T= c.8183T= (p.Val2728=) c.928T= n.1068T= c.8801T= (p.Val2934=) c.6977T= (p.Val2326=) c.6980T= (p.Val2327=) n.5243T= c.8201T= (p.Val2734=) c.7580T= (p.Val2527=) c.8300T= (p.Val2767=) c.8798T= (p.Val2933=) c.6395T= (p.Val2132=)
2	g.237336299A>C	CA351191508	COL6A3	c.1446T>G c.8183T>G (p.Val2728Gly) c.928T>G n.1068T>G c.8801T>G (p.Val2934Gly) c.6977T>G (p.Val2326Gly) c.6980T>G (p.Val2327Gly) n.5243T>G c.8201T>G (p.Val2734Gly) c.7580T>G (p.Val2527Gly) c.8300T>G (p.Val2767Gly) c.8798T>G (p.Val2933Gly) c.6395T>G (p.Val2132Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.237336299A>G	CA351191512	COL6A3	c.1446T>C c.8183T>C (p.Val2728Ala) c.928T>C n.1068T>C c.8801T>C (p.Val2934Ala) c.6977T>C (p.Val2326Ala) c.6980T>C (p.Val2327Ala) n.5243T>C c.8201T>C (p.Val2734Ala) c.7580T>C (p.Val2527Ala) c.8300T>C (p.Val2767Ala) c.8798T>C (p.Val2933Ala) c.6395T>C (p.Val2132Ala)
2	g.237336299A>T	CA351191511	COL6A3	c.1446T>A c.8183T>A (p.Val2728Glu) c.928T>A n.1068T>A c.8801T>A (p.Val2934Glu) c.6977T>A (p.Val2326Glu) c.6980T>A (p.Val2327Glu) n.5243T>A c.8201T>A (p.Val2734Glu) c.7580T>A (p.Val2527Glu) c.8300T>A (p.Val2767Glu) c.8798T>A (p.Val2933Glu) c.6395T>A (p.Val2132Glu)	gnomAD v4
2	g.237336300C>A	CA351191513	COL6A3	c.1445G>T c.8182G>T (p.Val2728Leu) c.927G>T n.1067G>T c.8800G>T (p.Val2934Leu) c.6976G>T (p.Val2326Leu) c.6979G>T (p.Val2327Leu) n.5242G>T c.8200G>T (p.Val2734Leu) c.7579G>T (p.Val2527Leu) c.8299G>T (p.Val2767Leu) c.8797G>T (p.Val2933Leu) c.6394G>T (p.Val2132Leu)
2	g.237336300C>G	CA351191514	COL6A3	c.1445G>C c.8182G>C (p.Val2728Leu) c.927G>C n.1067G>C c.8800G>C (p.Val2934Leu) c.6976G>C (p.Val2326Leu) c.6979G>C (p.Val2327Leu) n.5242G>C c.8200G>C (p.Val2734Leu) c.7579G>C (p.Val2527Leu) c.8299G>C (p.Val2767Leu) c.8797G>C (p.Val2933Leu) c.6394G>C (p.Val2132Leu)
2	g.237336300C>T	CA351191516	COL6A3	c.1445G>A c.8182G>A (p.Val2728Met) c.927G>A n.1067G>A c.8800G>A (p.Val2934Met) c.6976G>A (p.Val2326Met) c.6979G>A (p.Val2327Met) n.5242G>A c.8200G>A (p.Val2734Met) c.7579G>A (p.Val2527Met) c.8299G>A (p.Val2767Met) c.8797G>A (p.Val2933Met) c.6394G>A (p.Val2132Met)
2	g.237336301T>A	CA2187444	COL6A3	c.1444A>T c.8181A>T (p.Pro2727=) c.926A>T n.1066A>T c.8799A>T (p.Pro2933=) c.6975A>T (p.Pro2325=) c.6978A>T (p.Pro2326=) n.5241A>T c.8199A>T (p.Pro2733=) c.7578A>T (p.Pro2526=) c.8298A>T (p.Pro2766=) c.8796A>T (p.Pro2932=) c.6393A>T (p.Pro2131=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336301T>C	CA2187443	COL6A3	c.1444A>G c.8181A>G (p.Pro2727=) c.926A>G n.1066A>G c.8799A>G (p.Pro2933=) c.6975A>G (p.Pro2325=) c.6978A>G (p.Pro2326=) n.5241A>G c.8199A>G (p.Pro2733=) c.7578A>G (p.Pro2526=) c.8298A>G (p.Pro2766=) c.8796A>G (p.Pro2932=) c.6393A>G (p.Pro2131=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336301T>G	CA431701617	COL6A3	c.1444A>C c.8181A>C (p.Pro2727=) c.926A>C n.1066A>C c.8799A>C (p.Pro2933=) c.6975A>C (p.Pro2325=) c.6978A>C (p.Pro2326=) n.5241A>C c.8199A>C (p.Pro2733=) c.7578A>C (p.Pro2526=) c.8298A>C (p.Pro2766=) c.8796A>C (p.Pro2932=) c.6393A>C (p.Pro2131=)	dbSNP gnomAD v2 gnomAD v4
2	g.237336301T=	CA1337607125	COL6A3	c.1444A= c.8181A= (p.Pro2727=) c.926A= n.1066A= c.8799A= (p.Pro2933=) c.6975A= (p.Pro2325=) c.6978A= (p.Pro2326=) n.5241A= c.8199A= (p.Pro2733=) c.7578A= (p.Pro2526=) c.8298A= (p.Pro2766=) c.8796A= (p.Pro2932=) c.6393A= (p.Pro2131=)
2	g.237336302G>A	CA2187445	COL6A3	c.1443C>T c.8180C>T (p.Pro2727Leu) c.925C>T n.1065C>T c.8798C>T (p.Pro2933Leu) c.6974C>T (p.Pro2325Leu) c.6977C>T (p.Pro2326Leu) n.5240C>T c.8198C>T (p.Pro2733Leu) c.7577C>T (p.Pro2526Leu) c.8297C>T (p.Pro2766Leu) c.8795C>T (p.Pro2932Leu) c.6392C>T (p.Pro2131Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336302G>C	CA351191523	COL6A3	c.1443C>G c.8180C>G (p.Pro2727Arg) c.925C>G n.1065C>G c.8798C>G (p.Pro2933Arg) c.6974C>G (p.Pro2325Arg) c.6977C>G (p.Pro2326Arg) n.5240C>G c.8198C>G (p.Pro2733Arg) c.7577C>G (p.Pro2526Arg) c.8297C>G (p.Pro2766Arg) c.8795C>G (p.Pro2932Arg) c.6392C>G (p.Pro2131Arg)
2	g.237336302G=	CA1337607126	COL6A3	c.1443C= c.8180C= (p.Pro2727=) c.925C= n.1065C= c.8798C= (p.Pro2933=) c.6974C= (p.Pro2325=) c.6977C= (p.Pro2326=) n.5240C= c.8198C= (p.Pro2733=) c.7577C= (p.Pro2526=) c.8297C= (p.Pro2766=) c.8795C= (p.Pro2932=) c.6392C= (p.Pro2131=)
2	g.237336302G>T	CA351191525	COL6A3	c.1443C>A c.8180C>A (p.Pro2727Gln) c.925C>A n.1065C>A c.8798C>A (p.Pro2933Gln) c.6974C>A (p.Pro2325Gln) c.6977C>A (p.Pro2326Gln) n.5240C>A c.8198C>A (p.Pro2733Gln) c.7577C>A (p.Pro2526Gln) c.8297C>A (p.Pro2766Gln) c.8795C>A (p.Pro2932Gln) c.6392C>A (p.Pro2131Gln)	ClinVar dbSNP
2	g.237336303G>A	CA351191530	COL6A3	c.1442C>T c.8179C>T (p.Pro2727Ser) c.924C>T n.1064C>T c.8797C>T (p.Pro2933Ser) c.6973C>T (p.Pro2325Ser) c.6976C>T (p.Pro2326Ser) n.5239C>T c.8197C>T (p.Pro2733Ser) c.7576C>T (p.Pro2526Ser) c.8296C>T (p.Pro2766Ser) c.8794C>T (p.Pro2932Ser) c.6391C>T (p.Pro2131Ser)
2	g.237336303G>C	CA351191532	COL6A3	c.1442C>G c.8179C>G (p.Pro2727Ala) c.924C>G n.1064C>G c.8797C>G (p.Pro2933Ala) c.6973C>G (p.Pro2325Ala) c.6976C>G (p.Pro2326Ala) n.5239C>G c.8197C>G (p.Pro2733Ala) c.7576C>G (p.Pro2526Ala) c.8296C>G (p.Pro2766Ala) c.8794C>G (p.Pro2932Ala) c.6391C>G (p.Pro2131Ala)	COSMIC
2	g.237336303G>T	CA351191534	COL6A3	c.1442C>A c.8179C>A (p.Pro2727Thr) c.924C>A n.1064C>A c.8797C>A (p.Pro2933Thr) c.6973C>A (p.Pro2325Thr) c.6976C>A (p.Pro2326Thr) n.5239C>A c.8197C>A (p.Pro2733Thr) c.7576C>A (p.Pro2526Thr) c.8296C>A (p.Pro2766Thr) c.8794C>A (p.Pro2932Thr) c.6391C>A (p.Pro2131Thr)
2	g.237336304G>A	CA431701640	COL6A3	c.1441C>T c.8178C>T (p.Pro2726=) c.923C>T n.1063C>T c.8796C>T (p.Pro2932=) c.6972C>T (p.Pro2324=) c.6975C>T (p.Pro2325=) n.5238C>T c.8196C>T (p.Pro2732=) c.7575C>T (p.Pro2525=) c.8295C>T (p.Pro2765=) c.8793C>T (p.Pro2931=) c.6390C>T (p.Pro2130=)
2	g.237336304G>C	CA431701646	COL6A3	c.1441C>G c.8178C>G (p.Pro2726=) c.923C>G n.1063C>G c.8796C>G (p.Pro2932=) c.6972C>G (p.Pro2324=) c.6975C>G (p.Pro2325=) n.5238C>G c.8196C>G (p.Pro2732=) c.7575C>G (p.Pro2525=) c.8295C>G (p.Pro2765=) c.8793C>G (p.Pro2931=) c.6390C>G (p.Pro2130=)	dbSNP gnomAD v4
2	g.237336304G=	CA1337607127	COL6A3	c.1441C= c.8178C= (p.Pro2726=) c.923C= n.1063C= c.8796C= (p.Pro2932=) c.6972C= (p.Pro2324=) c.6975C= (p.Pro2325=) n.5238C= c.8196C= (p.Pro2732=) c.7575C= (p.Pro2525=) c.8295C= (p.Pro2765=) c.8793C= (p.Pro2931=) c.6390C= (p.Pro2130=)
2	g.237336304G>T	CA431701643	COL6A3	c.1441C>A c.8178C>A (p.Pro2726=) c.923C>A n.1063C>A c.8796C>A (p.Pro2932=) c.6972C>A (p.Pro2324=) c.6975C>A (p.Pro2325=) n.5238C>A c.8196C>A (p.Pro2732=) c.7575C>A (p.Pro2525=) c.8295C>A (p.Pro2765=) c.8793C>A (p.Pro2931=) c.6390C>A (p.Pro2130=)	dbSNP gnomAD v3 gnomAD v4
2	g.237336305G>A	CA351191537	COL6A3	c.1440C>T c.8177C>T (p.Pro2726Leu) c.922C>T n.1062C>T c.8795C>T (p.Pro2932Leu) c.6971C>T (p.Pro2324Leu) c.6974C>T (p.Pro2325Leu) n.5237C>T c.8195C>T (p.Pro2732Leu) c.7574C>T (p.Pro2525Leu) c.8294C>T (p.Pro2765Leu) c.8792C>T (p.Pro2931Leu) c.6389C>T (p.Pro2130Leu)
2	g.237336305G>C	CA351191536	COL6A3	c.1440C>G c.8177C>G (p.Pro2726Arg) c.922C>G n.1062C>G c.8795C>G (p.Pro2932Arg) c.6971C>G (p.Pro2324Arg) c.6974C>G (p.Pro2325Arg) n.5237C>G c.8195C>G (p.Pro2732Arg) c.7574C>G (p.Pro2525Arg) c.8294C>G (p.Pro2765Arg) c.8792C>G (p.Pro2931Arg) c.6389C>G (p.Pro2130Arg)
2	g.237336305G>T	CA351191535	COL6A3	c.1440C>A c.8177C>A (p.Pro2726His) c.922C>A n.1062C>A c.8795C>A (p.Pro2932His) c.6971C>A (p.Pro2324His) c.6974C>A (p.Pro2325His) n.5237C>A c.8195C>A (p.Pro2732His) c.7574C>A (p.Pro2525His) c.8294C>A (p.Pro2765His) c.8792C>A (p.Pro2931His) c.6389C>A (p.Pro2130His)
2	g.237336306G>A	CA67830560	COL6A3	c.1439C>T c.8176C>T (p.Pro2726Ser) c.921C>T n.1061C>T c.8794C>T (p.Pro2932Ser) c.6970C>T (p.Pro2324Ser) c.6973C>T (p.Pro2325Ser) n.5236C>T c.8194C>T (p.Pro2732Ser) c.7573C>T (p.Pro2525Ser) c.8293C>T (p.Pro2765Ser) c.8791C>T (p.Pro2931Ser) c.6388C>T (p.Pro2130Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336306G>C	CA351191540	COL6A3	c.1439C>G c.8176C>G (p.Pro2726Ala) c.921C>G n.1061C>G c.8794C>G (p.Pro2932Ala) c.6970C>G (p.Pro2324Ala) c.6973C>G (p.Pro2325Ala) n.5236C>G c.8194C>G (p.Pro2732Ala) c.7573C>G (p.Pro2525Ala) c.8293C>G (p.Pro2765Ala) c.8791C>G (p.Pro2931Ala) c.6388C>G (p.Pro2130Ala)
2	g.237336306G=	CA1337607128	COL6A3	c.1439C= c.8176C= (p.Pro2726=) c.921C= n.1061C= c.8794C= (p.Pro2932=) c.6970C= (p.Pro2324=) c.6973C= (p.Pro2325=) n.5236C= c.8194C= (p.Pro2732=) c.7573C= (p.Pro2525=) c.8293C= (p.Pro2765=) c.8791C= (p.Pro2931=) c.6388C= (p.Pro2130=)
2	g.237336306G>T	CA351191542	COL6A3	c.1439C>A c.8176C>A (p.Pro2726Thr) c.921C>A n.1061C>A c.8794C>A (p.Pro2932Thr) c.6970C>A (p.Pro2324Thr) c.6973C>A (p.Pro2325Thr) n.5236C>A c.8194C>A (p.Pro2732Thr) c.7573C>A (p.Pro2525Thr) c.8293C>A (p.Pro2765Thr) c.8791C>A (p.Pro2931Thr) c.6388C>A (p.Pro2130Thr)	gnomAD v4
2	g.237336307T>A	CA351191545	COL6A3	c.1438A>T c.8175A>T (p.Arg2725Ser) c.920A>T n.1060A>T c.8793A>T (p.Arg2931Ser) c.6969A>T (p.Arg2323Ser) c.6972A>T (p.Arg2324Ser) n.5235A>T c.8193A>T (p.Arg2731Ser) c.7572A>T (p.Arg2524Ser) c.8292A>T (p.Arg2764Ser) c.8790A>T (p.Arg2930Ser) c.6387A>T (p.Arg2129Ser)
2	g.237336307T>C	CA431701661	COL6A3	c.1438A>G c.8175A>G (p.Arg2725=) c.920A>G n.1060A>G c.8793A>G (p.Arg2931=) c.6969A>G (p.Arg2323=) c.6972A>G (p.Arg2324=) n.5235A>G c.8193A>G (p.Arg2731=) c.7572A>G (p.Arg2524=) c.8292A>G (p.Arg2764=) c.8790A>G (p.Arg2930=) c.6387A>G (p.Arg2129=)
2	g.237336307T>G	CA351191547	COL6A3	c.1438A>C c.8175A>C (p.Arg2725Ser) c.920A>C n.1060A>C c.8793A>C (p.Arg2931Ser) c.6969A>C (p.Arg2323Ser) c.6972A>C (p.Arg2324Ser) n.5235A>C c.8193A>C (p.Arg2731Ser) c.7572A>C (p.Arg2524Ser) c.8292A>C (p.Arg2764Ser) c.8790A>C (p.Arg2930Ser) c.6387A>C (p.Arg2129Ser)	dbSNP
2	g.237336307T=	CA1337607129	COL6A3	c.1438A= c.8175A= (p.Arg2725=) c.920A= n.1060A= c.8793A= (p.Arg2931=) c.6969A= (p.Arg2323=) c.6972A= (p.Arg2324=) n.5235A= c.8193A= (p.Arg2731=) c.7572A= (p.Arg2524=) c.8292A= (p.Arg2764=) c.8790A= (p.Arg2930=) c.6387A= (p.Arg2129=)
2	g.237336308C>A	CA351191551	COL6A3	c.1437G>T c.8174G>T (p.Arg2725Ile) c.919G>T n.1059G>T c.8792G>T (p.Arg2931Ile) c.6968G>T (p.Arg2323Ile) c.6971G>T (p.Arg2324Ile) n.5234G>T c.8192G>T (p.Arg2731Ile) c.7571G>T (p.Arg2524Ile) c.8291G>T (p.Arg2764Ile) c.8789G>T (p.Arg2930Ile) c.6386G>T (p.Arg2129Ile)
2	g.237336308C>G	CA351191552	COL6A3	c.1437G>C c.8174G>C (p.Arg2725Thr) c.919G>C n.1059G>C c.8792G>C (p.Arg2931Thr) c.6968G>C (p.Arg2323Thr) c.6971G>C (p.Arg2324Thr) n.5234G>C c.8192G>C (p.Arg2731Thr) c.7571G>C (p.Arg2524Thr) c.8291G>C (p.Arg2764Thr) c.8789G>C (p.Arg2930Thr) c.6386G>C (p.Arg2129Thr)
2	g.237336308C>T	CA351191555	COL6A3	c.1437G>A c.8174G>A (p.Arg2725Lys) c.919G>A n.1059G>A c.8792G>A (p.Arg2931Lys) c.6968G>A (p.Arg2323Lys) c.6971G>A (p.Arg2324Lys) n.5234G>A c.8192G>A (p.Arg2731Lys) c.7571G>A (p.Arg2524Lys) c.8291G>A (p.Arg2764Lys) c.8789G>A (p.Arg2930Lys) c.6386G>A (p.Arg2129Lys)
2	g.237336309T>A	CA351191558	COL6A3	c.1436A>T c.8173A>T (p.Arg2725Ter) c.918A>T n.1058A>T c.8791A>T (p.Arg2931Ter) c.6967A>T (p.Arg2323Ter) c.6970A>T (p.Arg2324Ter) n.5233A>T c.8191A>T (p.Arg2731Ter) c.7570A>T (p.Arg2524Ter) c.8290A>T (p.Arg2764Ter) c.8788A>T (p.Arg2930Ter) c.6385A>T (p.Arg2129Ter)
2	g.237336309T>C	CA351191560	COL6A3	c.1436A>G c.8173A>G (p.Arg2725Gly) c.918A>G n.1058A>G c.8791A>G (p.Arg2931Gly) c.6967A>G (p.Arg2323Gly) c.6970A>G (p.Arg2324Gly) n.5233A>G c.8191A>G (p.Arg2731Gly) c.7570A>G (p.Arg2524Gly) c.8290A>G (p.Arg2764Gly) c.8788A>G (p.Arg2930Gly) c.6385A>G (p.Arg2129Gly)
2	g.237336309T>G	CA431701672	COL6A3	c.1436A>C c.8173A>C (p.Arg2725=) c.918A>C n.1058A>C c.8791A>C (p.Arg2931=) c.6967A>C (p.Arg2323=) c.6970A>C (p.Arg2324=) n.5233A>C c.8191A>C (p.Arg2731=) c.7570A>C (p.Arg2524=) c.8290A>C (p.Arg2764=) c.8788A>C (p.Arg2930=) c.6385A>C (p.Arg2129=)
2	g.237336310A>C	CA431701675	COL6A3	c.1435T>G c.8172T>G (p.Val2724=) c.917T>G n.1057T>G c.8790T>G (p.Val2930=) c.6966T>G (p.Val2322=) c.6969T>G (p.Val2323=) n.5232T>G c.8190T>G (p.Val2730=) c.7569T>G (p.Val2523=) c.8289T>G (p.Val2763=) c.8787T>G (p.Val2929=) c.6384T>G (p.Val2128=)
2	g.237336310A>G	CA431701678	COL6A3	c.1435T>C c.8172T>C (p.Val2724=) c.917T>C n.1057T>C c.8790T>C (p.Val2930=) c.6966T>C (p.Val2322=) c.6969T>C (p.Val2323=) n.5232T>C c.8190T>C (p.Val2730=) c.7569T>C (p.Val2523=) c.8289T>C (p.Val2763=) c.8787T>C (p.Val2929=) c.6384T>C (p.Val2128=)
2	g.237336310A>T	CA431701682	COL6A3	c.1435T>A c.8172T>A (p.Val2724=) c.917T>A n.1057T>A c.8790T>A (p.Val2930=) c.6966T>A (p.Val2322=) c.6969T>A (p.Val2323=) n.5232T>A c.8190T>A (p.Val2730=) c.7569T>A (p.Val2523=) c.8289T>A (p.Val2763=) c.8787T>A (p.Val2929=) c.6384T>A (p.Val2128=)
2	g.237336311A=	CA1337607130	COL6A3	c.1434T= c.8171T= (p.Val2724=) c.916T= n.1056T= c.8789T= (p.Val2930=) c.6965T= (p.Val2322=) c.6968T= (p.Val2323=) n.5231T= c.8189T= (p.Val2730=) c.7568T= (p.Val2523=) c.8288T= (p.Val2763=) c.8786T= (p.Val2929=) c.6383T= (p.Val2128=)
2	g.237336311A>C	CA351191562	COL6A3	c.1434T>G c.8171T>G (p.Val2724Gly) c.916T>G n.1056T>G c.8789T>G (p.Val2930Gly) c.6965T>G (p.Val2322Gly) c.6968T>G (p.Val2323Gly) n.5231T>G c.8189T>G (p.Val2730Gly) c.7568T>G (p.Val2523Gly) c.8288T>G (p.Val2763Gly) c.8786T>G (p.Val2929Gly) c.6383T>G (p.Val2128Gly)
2	g.237336311A>G	CA351191563	COL6A3	c.1434T>C c.8171T>C (p.Val2724Ala) c.916T>C n.1056T>C c.8789T>C (p.Val2930Ala) c.6965T>C (p.Val2322Ala) c.6968T>C (p.Val2323Ala) n.5231T>C c.8189T>C (p.Val2730Ala) c.7568T>C (p.Val2523Ala) c.8288T>C (p.Val2763Ala) c.8786T>C (p.Val2929Ala) c.6383T>C (p.Val2128Ala)	ClinVar dbSNP
2	g.237336311A>T	CA351191564	COL6A3	c.1434T>A c.8171T>A (p.Val2724Asp) c.916T>A n.1056T>A c.8789T>A (p.Val2930Asp) c.6965T>A (p.Val2322Asp) c.6968T>A (p.Val2323Asp) n.5231T>A c.8189T>A (p.Val2730Asp) c.7568T>A (p.Val2523Asp) c.8288T>A (p.Val2763Asp) c.8786T>A (p.Val2929Asp) c.6383T>A (p.Val2128Asp)
2	g.237336312C>A	CA351191565	COL6A3	c.1433G>T c.8170G>T (p.Val2724Phe) c.915G>T n.1055G>T c.8788G>T (p.Val2930Phe) c.6964G>T (p.Val2322Phe) c.6967G>T (p.Val2323Phe) n.5230G>T c.8188G>T (p.Val2730Phe) c.7567G>T (p.Val2523Phe) c.8287G>T (p.Val2763Phe) c.8785G>T (p.Val2929Phe) c.6382G>T (p.Val2128Phe)
2	g.237336312C=	CA1337607131	COL6A3	c.1433G= c.8170G= (p.Val2724=) c.915G= n.1055G= c.8788G= (p.Val2930=) c.6964G= (p.Val2322=) c.6967G= (p.Val2323=) n.5230G= c.8188G= (p.Val2730=) c.7567G= (p.Val2523=) c.8287G= (p.Val2763=) c.8785G= (p.Val2929=) c.6382G= (p.Val2128=)
2	g.237336312C>G	CA351191567	COL6A3	c.1433G>C c.8170G>C (p.Val2724Leu) c.915G>C n.1055G>C c.8788G>C (p.Val2930Leu) c.6964G>C (p.Val2322Leu) c.6967G>C (p.Val2323Leu) n.5230G>C c.8188G>C (p.Val2730Leu) c.7567G>C (p.Val2523Leu) c.8287G>C (p.Val2763Leu) c.8785G>C (p.Val2929Leu) c.6382G>C (p.Val2128Leu)
2	g.237336312C>T	CA351191569	COL6A3	c.1433G>A c.8170G>A (p.Val2724Ile) c.915G>A n.1055G>A c.8788G>A (p.Val2930Ile) c.6964G>A (p.Val2322Ile) c.6967G>A (p.Val2323Ile) n.5230G>A c.8188G>A (p.Val2730Ile) c.7567G>A (p.Val2523Ile) c.8287G>A (p.Val2763Ile) c.8785G>A (p.Val2929Ile) c.6382G>A (p.Val2128Ile)	dbSNP gnomAD v4
2	g.237336313A>C	CA431701699	COL6A3	c.1432T>G c.8169T>G (p.Thr2723=) c.914T>G n.1054T>G c.8787T>G (p.Thr2929=) c.6963T>G (p.Thr2321=) c.6966T>G (p.Thr2322=) n.5229T>G c.8187T>G (p.Thr2729=) c.7566T>G (p.Thr2522=) c.8286T>G (p.Thr2762=) c.8784T>G (p.Thr2928=) c.6381T>G (p.Thr2127=)
2	g.237336313A>G	CA431701700	COL6A3	c.1432T>C c.8169T>C (p.Thr2723=) c.914T>C n.1054T>C c.8787T>C (p.Thr2929=) c.6963T>C (p.Thr2321=) c.6966T>C (p.Thr2322=) n.5229T>C c.8187T>C (p.Thr2729=) c.7566T>C (p.Thr2522=) c.8286T>C (p.Thr2762=) c.8784T>C (p.Thr2928=) c.6381T>C (p.Thr2127=)
2	g.237336313A>T	CA431701701	COL6A3	c.1432T>A c.8169T>A (p.Thr2723=) c.914T>A n.1054T>A c.8787T>A (p.Thr2929=) c.6963T>A (p.Thr2321=) c.6966T>A (p.Thr2322=) n.5229T>A c.8187T>A (p.Thr2729=) c.7566T>A (p.Thr2522=) c.8286T>A (p.Thr2762=) c.8784T>A (p.Thr2928=) c.6381T>A (p.Thr2127=)
2	g.237336314G>A	CA351191572	COL6A3	c.1431C>T c.8168C>T (p.Thr2723Ile) c.913C>T n.1053C>T c.8786C>T (p.Thr2929Ile) c.6962C>T (p.Thr2321Ile) c.6965C>T (p.Thr2322Ile) n.5228C>T c.8186C>T (p.Thr2729Ile) c.7565C>T (p.Thr2522Ile) c.8285C>T (p.Thr2762Ile) c.8783C>T (p.Thr2928Ile) c.6380C>T (p.Thr2127Ile)	dbSNP gnomAD v2 gnomAD v4
2	g.237336314G>C	CA351191581	COL6A3	c.1431C>G c.8168C>G (p.Thr2723Ser) c.913C>G n.1053C>G c.8786C>G (p.Thr2929Ser) c.6962C>G (p.Thr2321Ser) c.6965C>G (p.Thr2322Ser) n.5228C>G c.8186C>G (p.Thr2729Ser) c.7565C>G (p.Thr2522Ser) c.8285C>G (p.Thr2762Ser) c.8783C>G (p.Thr2928Ser) c.6380C>G (p.Thr2127Ser)
2	g.237336314G=	CA1337607132	COL6A3	c.1431C= c.8168C= (p.Thr2723=) c.913C= n.1053C= c.8786C= (p.Thr2929=) c.6962C= (p.Thr2321=) c.6965C= (p.Thr2322=) n.5228C= c.8186C= (p.Thr2729=) c.7565C= (p.Thr2522=) c.8285C= (p.Thr2762=) c.8783C= (p.Thr2928=) c.6380C= (p.Thr2127=)
2	g.237336314G>T	CA351191579	COL6A3	c.1431C>A c.8168C>A (p.Thr2723Asn) c.913C>A n.1053C>A c.8786C>A (p.Thr2929Asn) c.6962C>A (p.Thr2321Asn) c.6965C>A (p.Thr2322Asn) n.5228C>A c.8186C>A (p.Thr2729Asn) c.7565C>A (p.Thr2522Asn) c.8285C>A (p.Thr2762Asn) c.8783C>A (p.Thr2928Asn) c.6380C>A (p.Thr2127Asn)
2	g.237336315T>A	CA351191584	COL6A3	c.1430A>T c.8167A>T (p.Thr2723Ser) c.912A>T n.1052A>T c.8785A>T (p.Thr2929Ser) c.6961A>T (p.Thr2321Ser) c.6964A>T (p.Thr2322Ser) n.5227A>T c.8185A>T (p.Thr2729Ser) c.7564A>T (p.Thr2522Ser) c.8284A>T (p.Thr2762Ser) c.8782A>T (p.Thr2928Ser) c.6379A>T (p.Thr2127Ser)
2	g.237336315T>C	CA351191585	COL6A3	c.1430A>G c.8167A>G (p.Thr2723Ala) c.912A>G n.1052A>G c.8785A>G (p.Thr2929Ala) c.6961A>G (p.Thr2321Ala) c.6964A>G (p.Thr2322Ala) n.5227A>G c.8185A>G (p.Thr2729Ala) c.7564A>G (p.Thr2522Ala) c.8284A>G (p.Thr2762Ala) c.8782A>G (p.Thr2928Ala) c.6379A>G (p.Thr2127Ala)
2	g.237336315T>G	CA351191586	COL6A3	c.1430A>C c.8167A>C (p.Thr2723Pro) c.912A>C n.1052A>C c.8785A>C (p.Thr2929Pro) c.6961A>C (p.Thr2321Pro) c.6964A>C (p.Thr2322Pro) n.5227A>C c.8185A>C (p.Thr2729Pro) c.7564A>C (p.Thr2522Pro) c.8284A>C (p.Thr2762Pro) c.8782A>C (p.Thr2928Pro) c.6379A>C (p.Thr2127Pro)
2	g.237336316G>A	CA431701715	COL6A3	c.1429C>T c.8166C>T (p.Ala2722=) c.911C>T n.1051C>T c.8784C>T (p.Ala2928=) c.6960C>T (p.Ala2320=) c.6963C>T (p.Ala2321=) n.5226C>T c.8184C>T (p.Ala2728=) c.7563C>T (p.Ala2521=) c.8283C>T (p.Ala2761=) c.8781C>T (p.Ala2927=) c.6378C>T (p.Ala2126=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336316G>C	CA431701722	COL6A3	c.1429C>G c.8166C>G (p.Ala2722=) c.911C>G n.1051C>G c.8784C>G (p.Ala2928=) c.6960C>G (p.Ala2320=) c.6963C>G (p.Ala2321=) n.5226C>G c.8184C>G (p.Ala2728=) c.7563C>G (p.Ala2521=) c.8283C>G (p.Ala2761=) c.8781C>G (p.Ala2927=) c.6378C>G (p.Ala2126=)
2	g.237336316G=	CA1337607133	COL6A3	c.1429C= c.8166C= (p.Ala2722=) c.911C= n.1051C= c.8784C= (p.Ala2928=) c.6960C= (p.Ala2320=) c.6963C= (p.Ala2321=) n.5226C= c.8184C= (p.Ala2728=) c.7563C= (p.Ala2521=) c.8283C= (p.Ala2761=) c.8781C= (p.Ala2927=) c.6378C= (p.Ala2126=)
2	g.237336316G>T	CA431701718	COL6A3	c.1429C>A c.8166C>A (p.Ala2722=) c.911C>A n.1051C>A c.8784C>A (p.Ala2928=) c.6960C>A (p.Ala2320=) c.6963C>A (p.Ala2321=) n.5226C>A c.8184C>A (p.Ala2728=) c.7563C>A (p.Ala2521=) c.8283C>A (p.Ala2761=) c.8781C>A (p.Ala2927=) c.6378C>A (p.Ala2126=)
2	g.237336317G>A	CA351191587	COL6A3	c.1428C>T c.8165C>T (p.Ala2722Val) c.910C>T n.1050C>T c.8783C>T (p.Ala2928Val) c.6959C>T (p.Ala2320Val) c.6962C>T (p.Ala2321Val) n.5225C>T c.8183C>T (p.Ala2728Val) c.7562C>T (p.Ala2521Val) c.8282C>T (p.Ala2761Val) c.8780C>T (p.Ala2927Val) c.6377C>T (p.Ala2126Val)
2	g.237336317G>C	CA351191589	COL6A3	c.1428C>G c.8165C>G (p.Ala2722Gly) c.910C>G n.1050C>G c.8783C>G (p.Ala2928Gly) c.6959C>G (p.Ala2320Gly) c.6962C>G (p.Ala2321Gly) n.5225C>G c.8183C>G (p.Ala2728Gly) c.7562C>G (p.Ala2521Gly) c.8282C>G (p.Ala2761Gly) c.8780C>G (p.Ala2927Gly) c.6377C>G (p.Ala2126Gly)
2	g.237336317G>T	CA351191590	COL6A3	c.1428C>A c.8165C>A (p.Ala2722Asp) c.910C>A n.1050C>A c.8783C>A (p.Ala2928Asp) c.6959C>A (p.Ala2320Asp) c.6962C>A (p.Ala2321Asp) n.5225C>A c.8183C>A (p.Ala2728Asp) c.7562C>A (p.Ala2521Asp) c.8282C>A (p.Ala2761Asp) c.8780C>A (p.Ala2927Asp) c.6377C>A (p.Ala2126Asp)
2	g.237336318C>A	CA351191591	COL6A3	c.1427G>T c.8164G>T (p.Ala2722Ser) c.909G>T n.1049G>T c.8782G>T (p.Ala2928Ser) c.6958G>T (p.Ala2320Ser) c.6961G>T (p.Ala2321Ser) n.5224G>T c.8182G>T (p.Ala2728Ser) c.7561G>T (p.Ala2521Ser) c.8281G>T (p.Ala2761Ser) c.8779G>T (p.Ala2927Ser) c.6376G>T (p.Ala2126Ser)
2	g.237336318C>G	CA351191592	COL6A3	c.1427G>C c.8164G>C (p.Ala2722Pro) c.909G>C n.1049G>C c.8782G>C (p.Ala2928Pro) c.6958G>C (p.Ala2320Pro) c.6961G>C (p.Ala2321Pro) n.5224G>C c.8182G>C (p.Ala2728Pro) c.7561G>C (p.Ala2521Pro) c.8281G>C (p.Ala2761Pro) c.8779G>C (p.Ala2927Pro) c.6376G>C (p.Ala2126Pro)
2	g.237336318C>T	CA351191593	COL6A3	c.1427G>A c.8164G>A (p.Ala2722Thr) c.909G>A n.1049G>A c.8782G>A (p.Ala2928Thr) c.6958G>A (p.Ala2320Thr) c.6961G>A (p.Ala2321Thr) n.5224G>A c.8182G>A (p.Ala2728Thr) c.7561G>A (p.Ala2521Thr) c.8281G>A (p.Ala2761Thr) c.8779G>A (p.Ala2927Thr) c.6376G>A (p.Ala2126Thr)	ClinVar gnomAD v4
2	g.237336319C>A	CA2187446	COL6A3	c.1426G>T c.8163G>T (p.Met2721Ile) c.908G>T n.1048G>T c.8781G>T (p.Met2927Ile) c.6957G>T (p.Met2319Ile) c.6960G>T (p.Met2320Ile) n.5223G>T c.8181G>T (p.Met2727Ile) c.7560G>T (p.Met2520Ile) c.8280G>T (p.Met2760Ile) c.8778G>T (p.Met2926Ile) c.6375G>T (p.Met2125Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336319C=	CA1337607134	COL6A3	c.1426G= c.8163G= (p.Met2721=) c.908G= n.1048G= c.8781G= (p.Met2927=) c.6957G= (p.Met2319=) c.6960G= (p.Met2320=) n.5223G= c.8181G= (p.Met2727=) c.7560G= (p.Met2520=) c.8280G= (p.Met2760=) c.8778G= (p.Met2926=) c.6375G= (p.Met2125=)
2	g.237336319C>G	CA351191594	COL6A3	c.1426G>C c.8163G>C (p.Met2721Ile) c.908G>C n.1048G>C c.8781G>C (p.Met2927Ile) c.6957G>C (p.Met2319Ile) c.6960G>C (p.Met2320Ile) n.5223G>C c.8181G>C (p.Met2727Ile) c.7560G>C (p.Met2520Ile) c.8280G>C (p.Met2760Ile) c.8778G>C (p.Met2926Ile) c.6375G>C (p.Met2125Ile)
2	g.237336319C>T	CA351191595	COL6A3	c.1426G>A c.8163G>A (p.Met2721Ile) c.908G>A n.1048G>A c.8781G>A (p.Met2927Ile) c.6957G>A (p.Met2319Ile) c.6960G>A (p.Met2320Ile) n.5223G>A c.8181G>A (p.Met2727Ile) c.7560G>A (p.Met2520Ile) c.8280G>A (p.Met2760Ile) c.8778G>A (p.Met2926Ile) c.6375G>A (p.Met2125Ile)	dbSNP gnomAD v3 gnomAD v4
2	g.237336319_237336320delinsAG	CA2573135627	COL6A3	c.1425_1426delinsCT c.8162_8163delinsCT (p.Met2721Thr) c.907_908delinsCT n.1047_1048delinsCT c.8780_8781delinsCT (p.Met2927Thr) c.6956_6957delinsCT (p.Met2319Thr) c.6959_6960delinsCT (p.Met2320Thr) n.5222_5223delinsCT c.8180_8181delinsCT (p.Met2727Thr) c.7559_7560delinsCT (p.Met2520Thr) c.8279_8280delinsCT (p.Met2760Thr) c.8777_8778delinsCT (p.Met2926Thr) c.6374_6375delinsCT (p.Met2125Thr)	ClinVar dbSNP
2	g.237336319_237336320delinsTG	CA2580066109	COL6A3	c.1425_1426delinsCA c.8162_8163delinsCA (p.Met2721Thr) c.907_908delinsCA n.1047_1048delinsCA c.8780_8781delinsCA (p.Met2927Thr) c.6956_6957delinsCA (p.Met2319Thr) c.6959_6960delinsCA (p.Met2320Thr) n.5222_5223delinsCA c.8180_8181delinsCA (p.Met2727Thr) c.7559_7560delinsCA (p.Met2520Thr) c.8279_8280delinsCA (p.Met2760Thr) c.8777_8778delinsCA (p.Met2926Thr) c.6374_6375delinsCA (p.Met2125Thr)	ClinVar
2	g.237336320A=	CA1337607135	COL6A3	c.1425T= c.8162T= (p.Met2721=) c.907T= n.1047T= c.8780T= (p.Met2927=) c.6956T= (p.Met2319=) c.6959T= (p.Met2320=) n.5222T= c.8180T= (p.Met2727=) c.7559T= (p.Met2520=) c.8279T= (p.Met2760=) c.8777T= (p.Met2926=) c.6374T= (p.Met2125=)
2	g.237336320A>C	CA351191596	COL6A3	c.1425T>G c.8162T>G (p.Met2721Arg) c.907T>G n.1047T>G c.8780T>G (p.Met2927Arg) c.6956T>G (p.Met2319Arg) c.6959T>G (p.Met2320Arg) n.5222T>G c.8180T>G (p.Met2727Arg) c.7559T>G (p.Met2520Arg) c.8279T>G (p.Met2760Arg) c.8777T>G (p.Met2926Arg) c.6374T>G (p.Met2125Arg)	dbSNP
2	g.237336320A>G	CA148069	COL6A3	c.1425T>C c.8162T>C (p.Met2721Thr) c.907T>C n.1047T>C c.8780T>C (p.Met2927Thr) c.6956T>C (p.Met2319Thr) c.6959T>C (p.Met2320Thr) n.5222T>C c.8180T>C (p.Met2727Thr) c.7559T>C (p.Met2520Thr) c.8279T>C (p.Met2760Thr) c.8777T>C (p.Met2926Thr) c.6374T>C (p.Met2125Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336320A>T	CA351191597	COL6A3	c.1425T>A c.8162T>A (p.Met2721Lys) c.907T>A n.1047T>A c.8780T>A (p.Met2927Lys) c.6956T>A (p.Met2319Lys) c.6959T>A (p.Met2320Lys) n.5222T>A c.8180T>A (p.Met2727Lys) c.7559T>A (p.Met2520Lys) c.8279T>A (p.Met2760Lys) c.8777T>A (p.Met2926Lys) c.6374T>A (p.Met2125Lys)
2	g.237336320_237336321delinsGA	CA2573135628	COL6A3	c.1424_1425delinsTC c.8161_8162delinsTC (p.Met2721Ser) c.906_907delinsTC n.1046_1047delinsTC c.8779_8780delinsTC (p.Met2927Ser) c.6955_6956delinsTC (p.Met2319Ser) c.6958_6959delinsTC (p.Met2320Ser) n.5221_5222delinsTC c.8179_8180delinsTC (p.Met2727Ser) c.7558_7559delinsTC (p.Met2520Ser) c.8278_8279delinsTC (p.Met2760Ser) c.8776_8777delinsTC (p.Met2926Ser) c.6373_6374delinsTC (p.Met2125Ser)	ClinVar dbSNP
2	g.237336321T>A	CA351191599	COL6A3	c.1424A>T c.8161A>T (p.Met2721Leu) c.906A>T n.1046A>T c.8779A>T (p.Met2927Leu) c.6955A>T (p.Met2319Leu) c.6958A>T (p.Met2320Leu) n.5221A>T c.8179A>T (p.Met2727Leu) c.7558A>T (p.Met2520Leu) c.8278A>T (p.Met2760Leu) c.8776A>T (p.Met2926Leu) c.6373A>T (p.Met2125Leu)	gnomAD v4
2	g.237336321T>C	CA351191601	COL6A3	c.1424A>G c.8161A>G (p.Met2721Val) c.906A>G n.1046A>G c.8779A>G (p.Met2927Val) c.6955A>G (p.Met2319Val) c.6958A>G (p.Met2320Val) n.5221A>G c.8179A>G (p.Met2727Val) c.7558A>G (p.Met2520Val) c.8278A>G (p.Met2760Val) c.8776A>G (p.Met2926Val) c.6373A>G (p.Met2125Val)	dbSNP gnomAD v2 gnomAD v4
2	g.237336321T>G	CA351191603	COL6A3	c.1424A>C c.8161A>C (p.Met2721Leu) c.906A>C n.1046A>C c.8779A>C (p.Met2927Leu) c.6955A>C (p.Met2319Leu) c.6958A>C (p.Met2320Leu) n.5221A>C c.8179A>C (p.Met2727Leu) c.7558A>C (p.Met2520Leu) c.8278A>C (p.Met2760Leu) c.8776A>C (p.Met2926Leu) c.6373A>C (p.Met2125Leu)
2	g.237336321T=	CA1337607136	COL6A3	c.1424A= c.8161A= (p.Met2721=) c.906A= n.1046A= c.8779A= (p.Met2927=) c.6955A= (p.Met2319=) c.6958A= (p.Met2320=) n.5221A= c.8179A= (p.Met2727=) c.7558A= (p.Met2520=) c.8278A= (p.Met2760=) c.8776A= (p.Met2926=) c.6373A= (p.Met2125=)
2	g.237336322C>A	CA351191605	COL6A3	c.1423G>T c.8160G>T (p.Lys2720Asn) c.905G>T n.1045G>T c.8778G>T (p.Lys2926Asn) c.6954G>T (p.Lys2318Asn) c.6957G>T (p.Lys2319Asn) n.5220G>T c.8178G>T (p.Lys2726Asn) c.7557G>T (p.Lys2519Asn) c.8277G>T (p.Lys2759Asn) c.8775G>T (p.Lys2925Asn) c.6372G>T (p.Lys2124Asn)
2	g.237336322C=	CA1337607137	COL6A3	c.1423G= c.8160G= (p.Lys2720=) c.905G= n.1045G= c.8778G= (p.Lys2926=) c.6954G= (p.Lys2318=) c.6957G= (p.Lys2319=) n.5220G= c.8178G= (p.Lys2726=) c.7557G= (p.Lys2519=) c.8277G= (p.Lys2759=) c.8775G= (p.Lys2925=) c.6372G= (p.Lys2124=)
2	g.237336322C>G	CA351191607	COL6A3	c.1423G>C c.8160G>C (p.Lys2720Asn) c.905G>C n.1045G>C c.8778G>C (p.Lys2926Asn) c.6954G>C (p.Lys2318Asn) c.6957G>C (p.Lys2319Asn) n.5220G>C c.8178G>C (p.Lys2726Asn) c.7557G>C (p.Lys2519Asn) c.8277G>C (p.Lys2759Asn) c.8775G>C (p.Lys2925Asn) c.6372G>C (p.Lys2124Asn)	dbSNP gnomAD v4
2	g.237336322C>T	CA431701770	COL6A3	c.1423G>A c.8160G>A (p.Lys2720=) c.905G>A n.1045G>A c.8778G>A (p.Lys2926=) c.6954G>A (p.Lys2318=) c.6957G>A (p.Lys2319=) n.5220G>A c.8178G>A (p.Lys2726=) c.7557G>A (p.Lys2519=) c.8277G>A (p.Lys2759=) c.8775G>A (p.Lys2925=) c.6372G>A (p.Lys2124=)
2	g.237336323T>A	CA351191610	COL6A3	c.1422A>T c.8159A>T (p.Lys2720Met) c.904A>T n.1044A>T c.8777A>T (p.Lys2926Met) c.6953A>T (p.Lys2318Met) c.6956A>T (p.Lys2319Met) n.5219A>T c.8177A>T (p.Lys2726Met) c.7556A>T (p.Lys2519Met) c.8276A>T (p.Lys2759Met) c.8774A>T (p.Lys2925Met) c.6371A>T (p.Lys2124Met)
2	g.237336323T>C	CA351191609	COL6A3	c.1422A>G c.8159A>G (p.Lys2720Arg) c.904A>G n.1044A>G c.8777A>G (p.Lys2926Arg) c.6953A>G (p.Lys2318Arg) c.6956A>G (p.Lys2319Arg) n.5219A>G c.8177A>G (p.Lys2726Arg) c.7556A>G (p.Lys2519Arg) c.8276A>G (p.Lys2759Arg) c.8774A>G (p.Lys2925Arg) c.6371A>G (p.Lys2124Arg)
2	g.237336323T>G	CA351191608	COL6A3	c.1422A>C c.8159A>C (p.Lys2720Thr) c.904A>C n.1044A>C c.8777A>C (p.Lys2926Thr) c.6953A>C (p.Lys2318Thr) c.6956A>C (p.Lys2319Thr) n.5219A>C c.8177A>C (p.Lys2726Thr) c.7556A>C (p.Lys2519Thr) c.8276A>C (p.Lys2759Thr) c.8774A>C (p.Lys2925Thr) c.6371A>C (p.Lys2124Thr)
2	g.237336324T>A	CA351191612	COL6A3	c.1421A>T c.8158A>T (p.Lys2720Ter) c.903A>T n.1043A>T c.8776A>T (p.Lys2926Ter) c.6952A>T (p.Lys2318Ter) c.6955A>T (p.Lys2319Ter) n.5218A>T c.8176A>T (p.Lys2726Ter) c.7555A>T (p.Lys2519Ter) c.8275A>T (p.Lys2759Ter) c.8773A>T (p.Lys2925Ter) c.6370A>T (p.Lys2124Ter)
2	g.237336324T>C	CA351191614	COL6A3	c.1421A>G c.8158A>G (p.Lys2720Glu) c.903A>G n.1043A>G c.8776A>G (p.Lys2926Glu) c.6952A>G (p.Lys2318Glu) c.6955A>G (p.Lys2319Glu) n.5218A>G c.8176A>G (p.Lys2726Glu) c.7555A>G (p.Lys2519Glu) c.8275A>G (p.Lys2759Glu) c.8773A>G (p.Lys2925Glu) c.6370A>G (p.Lys2124Glu)
2	g.237336324T>G	CA351191616	COL6A3	c.1421A>C c.8158A>C (p.Lys2720Gln) c.903A>C n.1043A>C c.8776A>C (p.Lys2926Gln) c.6952A>C (p.Lys2318Gln) c.6955A>C (p.Lys2319Gln) n.5218A>C c.8176A>C (p.Lys2726Gln) c.7555A>C (p.Lys2519Gln) c.8275A>C (p.Lys2759Gln) c.8773A>C (p.Lys2925Gln) c.6370A>C (p.Lys2124Gln)
2	g.237336325T>A	CA431701783	COL6A3	c.1420A>T c.8157A>T (p.Thr2719=) c.902A>T n.1042A>T c.8775A>T (p.Thr2925=) c.6951A>T (p.Thr2317=) c.6954A>T (p.Thr2318=) n.5217A>T c.8175A>T (p.Thr2725=) c.7554A>T (p.Thr2518=) c.8274A>T (p.Thr2758=) c.8772A>T (p.Thr2924=) c.6369A>T (p.Thr2123=)
2	g.237336325T>C	CA431701785	COL6A3	c.1420A>G c.8157A>G (p.Thr2719=) c.902A>G n.1042A>G c.8775A>G (p.Thr2925=) c.6951A>G (p.Thr2317=) c.6954A>G (p.Thr2318=) n.5217A>G c.8175A>G (p.Thr2725=) c.7554A>G (p.Thr2518=) c.8274A>G (p.Thr2758=) c.8772A>G (p.Thr2924=) c.6369A>G (p.Thr2123=)
2	g.237336325T>G	CA431701787	COL6A3	c.1420A>C c.8157A>C (p.Thr2719=) c.902A>C n.1042A>C c.8775A>C (p.Thr2925=) c.6951A>C (p.Thr2317=) c.6954A>C (p.Thr2318=) n.5217A>C c.8175A>C (p.Thr2725=) c.7554A>C (p.Thr2518=) c.8274A>C (p.Thr2758=) c.8772A>C (p.Thr2924=) c.6369A>C (p.Thr2123=)
2	g.237336326G>A	CA351191617	COL6A3	c.1419C>T c.8156C>T (p.Thr2719Ile) c.901C>T n.1041C>T c.8774C>T (p.Thr2925Ile) c.6950C>T (p.Thr2317Ile) c.6953C>T (p.Thr2318Ile) n.5216C>T c.8174C>T (p.Thr2725Ile) c.7553C>T (p.Thr2518Ile) c.8273C>T (p.Thr2758Ile) c.8771C>T (p.Thr2924Ile) c.6368C>T (p.Thr2123Ile)
2	g.237336326G>C	CA351191618	COL6A3	c.1419C>G c.8156C>G (p.Thr2719Arg) c.901C>G n.1041C>G c.8774C>G (p.Thr2925Arg) c.6950C>G (p.Thr2317Arg) c.6953C>G (p.Thr2318Arg) n.5216C>G c.8174C>G (p.Thr2725Arg) c.7553C>G (p.Thr2518Arg) c.8273C>G (p.Thr2758Arg) c.8771C>G (p.Thr2924Arg) c.6368C>G (p.Thr2123Arg)
2	g.237336326G>T	CA351191619	COL6A3	c.1419C>A c.8156C>A (p.Thr2719Lys) c.901C>A n.1041C>A c.8774C>A (p.Thr2925Lys) c.6950C>A (p.Thr2317Lys) c.6953C>A (p.Thr2318Lys) n.5216C>A c.8174C>A (p.Thr2725Lys) c.7553C>A (p.Thr2518Lys) c.8273C>A (p.Thr2758Lys) c.8771C>A (p.Thr2924Lys) c.6368C>A (p.Thr2123Lys)
2	g.237336327T>A	CA351191620	COL6A3	c.1418A>T c.8155A>T (p.Thr2719Ser) c.900A>T n.1040A>T c.8773A>T (p.Thr2925Ser) c.6949A>T (p.Thr2317Ser) c.6952A>T (p.Thr2318Ser) n.5215A>T c.8173A>T (p.Thr2725Ser) c.7552A>T (p.Thr2518Ser) c.8272A>T (p.Thr2758Ser) c.8770A>T (p.Thr2924Ser) c.6367A>T (p.Thr2123Ser)
2	g.237336327T>C	CA351191623	COL6A3	c.1418A>G c.8155A>G (p.Thr2719Ala) c.900A>G n.1040A>G c.8773A>G (p.Thr2925Ala) c.6949A>G (p.Thr2317Ala) c.6952A>G (p.Thr2318Ala) n.5215A>G c.8173A>G (p.Thr2725Ala) c.7552A>G (p.Thr2518Ala) c.8272A>G (p.Thr2758Ala) c.8770A>G (p.Thr2924Ala) c.6367A>G (p.Thr2123Ala)	ClinVar gnomAD v4
2	g.237336327T>G	CA351191621	COL6A3	c.1418A>C c.8155A>C (p.Thr2719Pro) c.900A>C n.1040A>C c.8773A>C (p.Thr2925Pro) c.6949A>C (p.Thr2317Pro) c.6952A>C (p.Thr2318Pro) n.5215A>C c.8173A>C (p.Thr2725Pro) c.7552A>C (p.Thr2518Pro) c.8272A>C (p.Thr2758Pro) c.8770A>C (p.Thr2924Pro) c.6367A>C (p.Thr2123Pro)
2	g.237336328G>A	CA431701826	COL6A3	c.1417C>T c.8154C>T (p.Ala2718=) c.899C>T n.1039C>T c.8772C>T (p.Ala2924=) c.6948C>T (p.Ala2316=) c.6951C>T (p.Ala2317=) n.5214C>T c.8172C>T (p.Ala2724=) c.7551C>T (p.Ala2517=) c.8271C>T (p.Ala2757=) c.8769C>T (p.Ala2923=) c.6366C>T (p.Ala2122=)	dbSNP gnomAD v2 gnomAD v4
2	g.237336328G>C	CA431701829	COL6A3	c.1417C>G c.8154C>G (p.Ala2718=) c.899C>G n.1039C>G c.8772C>G (p.Ala2924=) c.6948C>G (p.Ala2316=) c.6951C>G (p.Ala2317=) n.5214C>G c.8172C>G (p.Ala2724=) c.7551C>G (p.Ala2517=) c.8271C>G (p.Ala2757=) c.8769C>G (p.Ala2923=) c.6366C>G (p.Ala2122=)	gnomAD v4
2	g.237336328G=	CA1337607138	COL6A3	c.1417C= c.8154C= (p.Ala2718=) c.899C= n.1039C= c.8772C= (p.Ala2924=) c.6948C= (p.Ala2316=) c.6951C= (p.Ala2317=) n.5214C= c.8172C= (p.Ala2724=) c.7551C= (p.Ala2517=) c.8271C= (p.Ala2757=) c.8769C= (p.Ala2923=) c.6366C= (p.Ala2122=)
2	g.237336328G>T	CA431701835	COL6A3	c.1417C>A c.8154C>A (p.Ala2718=) c.899C>A n.1039C>A c.8772C>A (p.Ala2924=) c.6948C>A (p.Ala2316=) c.6951C>A (p.Ala2317=) n.5214C>A c.8172C>A (p.Ala2724=) c.7551C>A (p.Ala2517=) c.8271C>A (p.Ala2757=) c.8769C>A (p.Ala2923=) c.6366C>A (p.Ala2122=)	COSMIC
2	g.237336328_237336342dup	CA2580066110	COL6A3	c.1403_1417dup c.8140_8154dup (p.Ala2718_Thr2719insAlaLysProValAla) c.885_899dup n.1025_1039dup c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla) c.6934_6948dup (p.Ala2316_Thr2317insAlaLysProValAla) c.6937_6951dup (p.Ala2317_Thr2318insAlaLysProValAla) n.5200_5214dup c.8158_8172dup (p.Ala2724_Thr2725insAlaLysProValAla) c.7537_7551dup (p.Ala2517_Thr2518insAlaLysProValAla) c.8257_8271dup (p.Ala2757_Thr2758insAlaLysProValAla) c.8755_8769dup (p.Ala2923_Thr2924insAlaLysProValAla) c.6352_6366dup (p.Ala2122_Thr2123insAlaLysProValAla)	ClinVar
2	g.237336328_237336343delinsGGCCACAGGCTTGGCA	CA1337607139	COL6A3	c.1402_1417delinsTGCCAAGCCTGTGGCC c.8139_8154delinsTGCCAAGCCTGTGGCC (p.Ala2713=) c.884_899delinsTGCCAAGCCTGTGGCC n.1024_1039delinsTGCCAAGCCTGTGGCC c.8757_8772delinsTGCCAAGCCTGTGGCC (p.Ala2919=) c.6933_6948delinsTGCCAAGCCTGTGGCC (p.Ala2311=) c.6936_6951delinsTGCCAAGCCTGTGGCC (p.Ala2312=) n.5199_5214delinsTGCCAAGCCTGTGGCC c.8157_8172delinsTGCCAAGCCTGTGGCC (p.Ala2719=) c.7536_7551delinsTGCCAAGCCTGTGGCC (p.Ala2512=) c.8256_8271delinsTGCCAAGCCTGTGGCC (p.Ala2752=) c.8754_8769delinsTGCCAAGCCTGTGGCC (p.Ala2918=) c.6351_6366delinsTGCCAAGCCTGTGGCC (p.Ala2117=)
2	g.237336329G>A	CA351191625	COL6A3	c.1416C>T c.8153C>T (p.Ala2718Val) c.898C>T n.1038C>T c.8771C>T (p.Ala2924Val) c.6947C>T (p.Ala2316Val) c.6950C>T (p.Ala2317Val) n.5213C>T c.8171C>T (p.Ala2724Val) c.7550C>T (p.Ala2517Val) c.8270C>T (p.Ala2757Val) c.8768C>T (p.Ala2923Val) c.6365C>T (p.Ala2122Val)	dbSNP
2	g.237336329G>C	CA351191627	COL6A3	c.1416C>G c.8153C>G (p.Ala2718Gly) c.898C>G n.1038C>G c.8771C>G (p.Ala2924Gly) c.6947C>G (p.Ala2316Gly) c.6950C>G (p.Ala2317Gly) n.5213C>G c.8171C>G (p.Ala2724Gly) c.7550C>G (p.Ala2517Gly) c.8270C>G (p.Ala2757Gly) c.8768C>G (p.Ala2923Gly) c.6365C>G (p.Ala2122Gly)
2	g.237336329G=	CA1337607140	COL6A3	c.1416C= c.8153C= (p.Ala2718=) c.898C= n.1038C= c.8771C= (p.Ala2924=) c.6947C= (p.Ala2316=) c.6950C= (p.Ala2317=) n.5213C= c.8171C= (p.Ala2724=) c.7550C= (p.Ala2517=) c.8270C= (p.Ala2757=) c.8768C= (p.Ala2923=) c.6365C= (p.Ala2122=)
2	g.237336329G>T	CA351191629	COL6A3	c.1416C>A c.8153C>A (p.Ala2718Asp) c.898C>A n.1038C>A c.8771C>A (p.Ala2924Asp) c.6947C>A (p.Ala2316Asp) c.6950C>A (p.Ala2317Asp) n.5213C>A c.8171C>A (p.Ala2724Asp) c.7550C>A (p.Ala2517Asp) c.8270C>A (p.Ala2757Asp) c.8768C>A (p.Ala2923Asp) c.6365C>A (p.Ala2122Asp)
2	g.237336337_237336351del	CA2187447	COL6A3	c.1402_1416del c.8139_8153del (p.Ala2714_Ala2718del) c.884_898del n.1024_1038del c.8757_8771del (p.Ala2920_Ala2924del) c.6933_6947del (p.Ala2312_Ala2316del) c.6936_6950del (p.Ala2313_Ala2317del) n.5199_5213del c.8157_8171del (p.Ala2720_Ala2724del) c.7536_7550del (p.Ala2513_Ala2517del) c.8256_8270del (p.Ala2753_Ala2757del) c.8754_8768del (p.Ala2919_Ala2923del) c.6351_6365del (p.Ala2118_Ala2122del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336330C>A	CA351191633	COL6A3	c.1415G>T c.8152G>T (p.Ala2718Ser) c.897G>T n.1037G>T c.8770G>T (p.Ala2924Ser) c.6946G>T (p.Ala2316Ser) c.6949G>T (p.Ala2317Ser) n.5212G>T c.8170G>T (p.Ala2724Ser) c.7549G>T (p.Ala2517Ser) c.8269G>T (p.Ala2757Ser) c.8767G>T (p.Ala2923Ser) c.6364G>T (p.Ala2122Ser)
2	g.237336330C>G	CA351191635	COL6A3	c.1415G>C c.8152G>C (p.Ala2718Pro) c.897G>C n.1037G>C c.8770G>C (p.Ala2924Pro) c.6946G>C (p.Ala2316Pro) c.6949G>C (p.Ala2317Pro) n.5212G>C c.8170G>C (p.Ala2724Pro) c.7549G>C (p.Ala2517Pro) c.8269G>C (p.Ala2757Pro) c.8767G>C (p.Ala2923Pro) c.6364G>C (p.Ala2122Pro)
2	g.237336330C>T	CA351191637	COL6A3	c.1415G>A c.8152G>A (p.Ala2718Thr) c.897G>A n.1037G>A c.8770G>A (p.Ala2924Thr) c.6946G>A (p.Ala2316Thr) c.6949G>A (p.Ala2317Thr) n.5212G>A c.8170G>A (p.Ala2724Thr) c.7549G>A (p.Ala2517Thr) c.8269G>A (p.Ala2757Thr) c.8767G>A (p.Ala2923Thr) c.6364G>A (p.Ala2122Thr)	gnomAD v4
2	g.237336331C>A	CA431701868	COL6A3	c.1414G>T c.8151G>T (p.Val2717=) c.896G>T n.1036G>T c.8769G>T (p.Val2923=) c.6945G>T (p.Val2315=) c.6948G>T (p.Val2316=) n.5211G>T c.8169G>T (p.Val2723=) c.7548G>T (p.Val2516=) c.8268G>T (p.Val2756=) c.8766G>T (p.Val2922=) c.6363G>T (p.Val2121=)
2	g.237336331C>G	CA431701870	COL6A3	c.1414G>C c.8151G>C (p.Val2717=) c.896G>C n.1036G>C c.8769G>C (p.Val2923=) c.6945G>C (p.Val2315=) c.6948G>C (p.Val2316=) n.5211G>C c.8169G>C (p.Val2723=) c.7548G>C (p.Val2516=) c.8268G>C (p.Val2756=) c.8766G>C (p.Val2922=) c.6363G>C (p.Val2121=)
2	g.237336331C>T	CA431701872	COL6A3	c.1414G>A c.8151G>A (p.Val2717=) c.896G>A n.1036G>A c.8769G>A (p.Val2923=) c.6945G>A (p.Val2315=) c.6948G>A (p.Val2316=) n.5211G>A c.8169G>A (p.Val2723=) c.7548G>A (p.Val2516=) c.8268G>A (p.Val2756=) c.8766G>A (p.Val2922=) c.6363G>A (p.Val2121=)
2	g.237336332A>C	CA351191640	COL6A3	c.1413T>G c.8150T>G (p.Val2717Gly) c.895T>G n.1035T>G c.8768T>G (p.Val2923Gly) c.6944T>G (p.Val2315Gly) c.6947T>G (p.Val2316Gly) n.5210T>G c.8168T>G (p.Val2723Gly) c.7547T>G (p.Val2516Gly) c.8267T>G (p.Val2756Gly) c.8765T>G (p.Val2922Gly) c.6362T>G (p.Val2121Gly)
2	g.237336332A>G	CA351191641	COL6A3	c.1413T>C c.8150T>C (p.Val2717Ala) c.895T>C n.1035T>C c.8768T>C (p.Val2923Ala) c.6944T>C (p.Val2315Ala) c.6947T>C (p.Val2316Ala) n.5210T>C c.8168T>C (p.Val2723Ala) c.7547T>C (p.Val2516Ala) c.8267T>C (p.Val2756Ala) c.8765T>C (p.Val2922Ala) c.6362T>C (p.Val2121Ala)
2	g.237336332A>T	CA351191643	COL6A3	c.1413T>A c.8150T>A (p.Val2717Glu) c.895T>A n.1035T>A c.8768T>A (p.Val2923Glu) c.6944T>A (p.Val2315Glu) c.6947T>A (p.Val2316Glu) n.5210T>A c.8168T>A (p.Val2723Glu) c.7547T>A (p.Val2516Glu) c.8267T>A (p.Val2756Glu) c.8765T>A (p.Val2922Glu) c.6362T>A (p.Val2121Glu)
2	g.237336333C>A	CA351191649	COL6A3	c.1412G>T c.8149G>T (p.Val2717Leu) c.894G>T n.1034G>T c.8767G>T (p.Val2923Leu) c.6943G>T (p.Val2315Leu) c.6946G>T (p.Val2316Leu) n.5209G>T c.8167G>T (p.Val2723Leu) c.7546G>T (p.Val2516Leu) c.8266G>T (p.Val2756Leu) c.8764G>T (p.Val2922Leu) c.6361G>T (p.Val2121Leu)
2	g.237336333C>G	CA351191648	COL6A3	c.1412G>C c.8149G>C (p.Val2717Leu) c.894G>C n.1034G>C c.8767G>C (p.Val2923Leu) c.6943G>C (p.Val2315Leu) c.6946G>C (p.Val2316Leu) n.5209G>C c.8167G>C (p.Val2723Leu) c.7546G>C (p.Val2516Leu) c.8266G>C (p.Val2756Leu) c.8764G>C (p.Val2922Leu) c.6361G>C (p.Val2121Leu)
2	g.237336333C>T	CA351191646	COL6A3	c.1412G>A c.8149G>A (p.Val2717Met) c.894G>A n.1034G>A c.8767G>A (p.Val2923Met) c.6943G>A (p.Val2315Met) c.6946G>A (p.Val2316Met) n.5209G>A c.8167G>A (p.Val2723Met) c.7546G>A (p.Val2516Met) c.8266G>A (p.Val2756Met) c.8764G>A (p.Val2922Met) c.6361G>A (p.Val2121Met)
2	g.237336334A=	CA1337607141	COL6A3	c.1411T= c.8148T= (p.Pro2716=) c.893T= n.1033T= c.8766T= (p.Pro2922=) c.6942T= (p.Pro2314=) c.6945T= (p.Pro2315=) n.5208T= c.8166T= (p.Pro2722=) c.7545T= (p.Pro2515=) c.8265T= (p.Pro2755=) c.8763T= (p.Pro2921=) c.6360T= (p.Pro2120=)
2	g.237336334A>C	CA431701895	COL6A3	c.1411T>G c.8148T>G (p.Pro2716=) c.893T>G n.1033T>G c.8766T>G (p.Pro2922=) c.6942T>G (p.Pro2314=) c.6945T>G (p.Pro2315=) n.5208T>G c.8166T>G (p.Pro2722=) c.7545T>G (p.Pro2515=) c.8265T>G (p.Pro2755=) c.8763T>G (p.Pro2921=) c.6360T>G (p.Pro2120=)
2	g.237336334A>G	CA431701898	COL6A3	c.1411T>C c.8148T>C (p.Pro2716=) c.893T>C n.1033T>C c.8766T>C (p.Pro2922=) c.6942T>C (p.Pro2314=) c.6945T>C (p.Pro2315=) n.5208T>C c.8166T>C (p.Pro2722=) c.7545T>C (p.Pro2515=) c.8265T>C (p.Pro2755=) c.8763T>C (p.Pro2921=) c.6360T>C (p.Pro2120=)	dbSNP gnomAD v4
2	g.237336334A>T	CA431701899	COL6A3	c.1411T>A c.8148T>A (p.Pro2716=) c.893T>A n.1033T>A c.8766T>A (p.Pro2922=) c.6942T>A (p.Pro2314=) c.6945T>A (p.Pro2315=) n.5208T>A c.8166T>A (p.Pro2722=) c.7545T>A (p.Pro2515=) c.8265T>A (p.Pro2755=) c.8763T>A (p.Pro2921=) c.6360T>A (p.Pro2120=)
2	g.237336335G>A	CA351191650	COL6A3	c.1410C>T c.8147C>T (p.Pro2716Leu) c.892C>T n.1032C>T c.8765C>T (p.Pro2922Leu) c.6941C>T (p.Pro2314Leu) c.6944C>T (p.Pro2315Leu) n.5207C>T c.8165C>T (p.Pro2722Leu) c.7544C>T (p.Pro2515Leu) c.8264C>T (p.Pro2755Leu) c.8762C>T (p.Pro2921Leu) c.6359C>T (p.Pro2120Leu)	gnomAD v4 COSMIC
2	g.237336335G>C	CA351191653	COL6A3	c.1410C>G c.8147C>G (p.Pro2716Arg) c.892C>G n.1032C>G c.8765C>G (p.Pro2922Arg) c.6941C>G (p.Pro2314Arg) c.6944C>G (p.Pro2315Arg) n.5207C>G c.8165C>G (p.Pro2722Arg) c.7544C>G (p.Pro2515Arg) c.8264C>G (p.Pro2755Arg) c.8762C>G (p.Pro2921Arg) c.6359C>G (p.Pro2120Arg)
2	g.237336335G>T	CA351191652	COL6A3	c.1410C>A c.8147C>A (p.Pro2716His) c.892C>A n.1032C>A c.8765C>A (p.Pro2922His) c.6941C>A (p.Pro2314His) c.6944C>A (p.Pro2315His) n.5207C>A c.8165C>A (p.Pro2722His) c.7544C>A (p.Pro2515His) c.8264C>A (p.Pro2755His) c.8762C>A (p.Pro2921His) c.6359C>A (p.Pro2120His)
2	g.237336336dup	CA916807165	COL6A3	c.1410dup c.8147dup (p.Val2717CysfsTer9) c.892dup n.1032dup c.8765dup (p.Val2923CysfsTer9) c.6941dup (p.Val2315CysfsTer9) c.6944dup (p.Val2316CysfsTer9) n.5207dup c.8165dup (p.Val2723CysfsTer9) c.7544dup (p.Val2516CysfsTer9) c.8264dup (p.Val2756CysfsTer9) c.8762dup (p.Val2922CysfsTer9) c.6359dup (p.Val2121CysfsTer9)	dbSNP
2	g.237336336G>A	CA351191655	COL6A3	c.1409C>T c.8146C>T (p.Pro2716Ser) c.891C>T n.1031C>T c.8764C>T (p.Pro2922Ser) c.6940C>T (p.Pro2314Ser) c.6943C>T (p.Pro2315Ser) n.5206C>T c.8164C>T (p.Pro2722Ser) c.7543C>T (p.Pro2515Ser) c.8263C>T (p.Pro2755Ser) c.8761C>T (p.Pro2921Ser) c.6358C>T (p.Pro2120Ser)	ClinVar
2	g.237336336G>C	CA351191657	COL6A3	c.1409C>G c.8146C>G (p.Pro2716Ala) c.891C>G n.1031C>G c.8764C>G (p.Pro2922Ala) c.6940C>G (p.Pro2314Ala) c.6943C>G (p.Pro2315Ala) n.5206C>G c.8164C>G (p.Pro2722Ala) c.7543C>G (p.Pro2515Ala) c.8263C>G (p.Pro2755Ala) c.8761C>G (p.Pro2921Ala) c.6358C>G (p.Pro2120Ala)
2	g.237336336G>T	CA351191656	COL6A3	c.1409C>A c.8146C>A (p.Pro2716Thr) c.891C>A n.1031C>A c.8764C>A (p.Pro2922Thr) c.6940C>A (p.Pro2314Thr) c.6943C>A (p.Pro2315Thr) n.5206C>A c.8164C>A (p.Pro2722Thr) c.7543C>A (p.Pro2515Thr) c.8263C>A (p.Pro2755Thr) c.8761C>A (p.Pro2921Thr) c.6358C>A (p.Pro2120Thr)
2	g.237336336_237336346del	CA2663792159	COL6A3	c.1399_1409del c.8136_8146del (p.Ala2713CysfsTer9) c.881_891del n.1021_1031del c.8754_8764del (p.Ala2919CysfsTer9) c.6930_6940del (p.Ala2311CysfsTer9) c.6933_6943del (p.Ala2312CysfsTer9) n.5196_5206del c.8154_8164del (p.Ala2719CysfsTer9) c.7533_7543del (p.Ala2512CysfsTer9) c.8253_8263del (p.Ala2752CysfsTer9) c.8751_8761del (p.Ala2918CysfsTer9) c.6348_6358del (p.Ala2117CysfsTer9)	gnomAD v4
2	g.237336337C>A	CA351191658	COL6A3	c.1408G>T c.8145G>T (p.Lys2715Asn) c.890G>T n.1030G>T c.8763G>T (p.Lys2921Asn) c.6939G>T (p.Lys2313Asn) c.6942G>T (p.Lys2314Asn) n.5205G>T c.8163G>T (p.Lys2721Asn) c.7542G>T (p.Lys2514Asn) c.8262G>T (p.Lys2754Asn) c.8760G>T (p.Lys2920Asn) c.6357G>T (p.Lys2119Asn)	gnomAD v4
2	g.237336337C=	CA1337607142	COL6A3	c.1408G= c.8145G= (p.Lys2715=) c.890G= n.1030G= c.8763G= (p.Lys2921=) c.6939G= (p.Lys2313=) c.6942G= (p.Lys2314=) n.5205G= c.8163G= (p.Lys2721=) c.7542G= (p.Lys2514=) c.8262G= (p.Lys2754=) c.8760G= (p.Lys2920=) c.6357G= (p.Lys2119=)
2	g.237336337C>G	CA351191659	COL6A3	c.1408G>C c.8145G>C (p.Lys2715Asn) c.890G>C n.1030G>C c.8763G>C (p.Lys2921Asn) c.6939G>C (p.Lys2313Asn) c.6942G>C (p.Lys2314Asn) n.5205G>C c.8163G>C (p.Lys2721Asn) c.7542G>C (p.Lys2514Asn) c.8262G>C (p.Lys2754Asn) c.8760G>C (p.Lys2920Asn) c.6357G>C (p.Lys2119Asn)
2	g.237336337C>T	CA431701918	COL6A3	c.1408G>A c.8145G>A (p.Lys2715=) c.890G>A n.1030G>A c.8763G>A (p.Lys2921=) c.6939G>A (p.Lys2313=) c.6942G>A (p.Lys2314=) n.5205G>A c.8163G>A (p.Lys2721=) c.7542G>A (p.Lys2514=) c.8262G>A (p.Lys2754=) c.8760G>A (p.Lys2920=) c.6357G>A (p.Lys2119=)	dbSNP
2	g.237336338T>A	CA351191661	COL6A3	c.1407A>T c.8144A>T (p.Lys2715Met) c.889A>T n.1029A>T c.8762A>T (p.Lys2921Met) c.6938A>T (p.Lys2313Met) c.6941A>T (p.Lys2314Met) n.5204A>T c.8162A>T (p.Lys2721Met) c.7541A>T (p.Lys2514Met) c.8261A>T (p.Lys2754Met) c.8759A>T (p.Lys2920Met) c.6356A>T (p.Lys2119Met)
2	g.237336338T>C	CA351191663	COL6A3	c.1407A>G c.8144A>G (p.Lys2715Arg) c.889A>G n.1029A>G c.8762A>G (p.Lys2921Arg) c.6938A>G (p.Lys2313Arg) c.6941A>G (p.Lys2314Arg) n.5204A>G c.8162A>G (p.Lys2721Arg) c.7541A>G (p.Lys2514Arg) c.8261A>G (p.Lys2754Arg) c.8759A>G (p.Lys2920Arg) c.6356A>G (p.Lys2119Arg)	gnomAD v4
2	g.237336338T>G	CA351191664	COL6A3	c.1407A>C c.8144A>C (p.Lys2715Thr) c.889A>C n.1029A>C c.8762A>C (p.Lys2921Thr) c.6938A>C (p.Lys2313Thr) c.6941A>C (p.Lys2314Thr) n.5204A>C c.8162A>C (p.Lys2721Thr) c.7541A>C (p.Lys2514Thr) c.8261A>C (p.Lys2754Thr) c.8759A>C (p.Lys2920Thr) c.6356A>C (p.Lys2119Thr)
2	g.237336339dup	CA540749777	COL6A3	c.1407dup c.8144dup (p.Pro2716AlafsTer10) c.889dup n.1029dup c.8762dup (p.Pro2922AlafsTer10) c.6938dup (p.Pro2314AlafsTer10) c.6941dup (p.Pro2315AlafsTer10) n.5204dup c.8162dup (p.Pro2722AlafsTer10) c.7541dup (p.Pro2515AlafsTer10) c.8261dup (p.Pro2755AlafsTer10) c.8759dup (p.Pro2921AlafsTer10) c.6356dup (p.Pro2120AlafsTer10)	dbSNP gnomAD v2
2	g.237336339T>A	CA351191665	COL6A3	c.1406A>T c.8143A>T (p.Lys2715Ter) c.888A>T n.1028A>T c.8761A>T (p.Lys2921Ter) c.6937A>T (p.Lys2313Ter) c.6940A>T (p.Lys2314Ter) n.5203A>T c.8161A>T (p.Lys2721Ter) c.7540A>T (p.Lys2514Ter) c.8260A>T (p.Lys2754Ter) c.8758A>T (p.Lys2920Ter) c.6355A>T (p.Lys2119Ter)
2	g.237336339T>C	CA351191666	COL6A3	c.1406A>G c.8143A>G (p.Lys2715Glu) c.888A>G n.1028A>G c.8761A>G (p.Lys2921Glu) c.6937A>G (p.Lys2313Glu) c.6940A>G (p.Lys2314Glu) n.5203A>G c.8161A>G (p.Lys2721Glu) c.7540A>G (p.Lys2514Glu) c.8260A>G (p.Lys2754Glu) c.8758A>G (p.Lys2920Glu) c.6355A>G (p.Lys2119Glu)	gnomAD v4
2	g.237336339T>G	CA351191667	COL6A3	c.1406A>C c.8143A>C (p.Lys2715Gln) c.888A>C n.1028A>C c.8761A>C (p.Lys2921Gln) c.6937A>C (p.Lys2313Gln) c.6940A>C (p.Lys2314Gln) n.5203A>C c.8161A>C (p.Lys2721Gln) c.7540A>C (p.Lys2514Gln) c.8260A>C (p.Lys2754Gln) c.8758A>C (p.Lys2920Gln) c.6355A>C (p.Lys2119Gln)	dbSNP
2	g.237336339T=	CA1337607143	COL6A3	c.1406A= c.8143A= (p.Lys2715=) c.888A= n.1028A= c.8761A= (p.Lys2921=) c.6937A= (p.Lys2313=) c.6940A= (p.Lys2314=) n.5203A= c.8161A= (p.Lys2721=) c.7540A= (p.Lys2514=) c.8260A= (p.Lys2754=) c.8758A= (p.Lys2920=) c.6355A= (p.Lys2119=)
2	g.237336340G>A	CA431701964	COL6A3	c.1405C>T c.8142C>T (p.Ala2714=) c.887C>T n.1027C>T c.8760C>T (p.Ala2920=) c.6936C>T (p.Ala2312=) c.6939C>T (p.Ala2313=) n.5202C>T c.8160C>T (p.Ala2720=) c.7539C>T (p.Ala2513=) c.8259C>T (p.Ala2753=) c.8757C>T (p.Ala2919=) c.6354C>T (p.Ala2118=)
2	g.237336340G>C	CA431701958	COL6A3	c.1405C>G c.8142C>G (p.Ala2714=) c.887C>G n.1027C>G c.8760C>G (p.Ala2920=) c.6936C>G (p.Ala2312=) c.6939C>G (p.Ala2313=) n.5202C>G c.8160C>G (p.Ala2720=) c.7539C>G (p.Ala2513=) c.8259C>G (p.Ala2753=) c.8757C>G (p.Ala2919=) c.6354C>G (p.Ala2118=)	dbSNP gnomAD v2 gnomAD v4
2	g.237336340G=	CA1337607144	COL6A3	c.1405C= c.8142C= (p.Ala2714=) c.887C= n.1027C= c.8760C= (p.Ala2920=) c.6936C= (p.Ala2312=) c.6939C= (p.Ala2313=) n.5202C= c.8160C= (p.Ala2720=) c.7539C= (p.Ala2513=) c.8259C= (p.Ala2753=) c.8757C= (p.Ala2919=) c.6354C= (p.Ala2118=)
2	g.237336340G>T	CA2187448	COL6A3	c.1405C>A c.8142C>A (p.Ala2714=) c.887C>A n.1027C>A c.8760C>A (p.Ala2920=) c.6936C>A (p.Ala2312=) c.6939C>A (p.Ala2313=) n.5202C>A c.8160C>A (p.Ala2720=) c.7539C>A (p.Ala2513=) c.8259C>A (p.Ala2753=) c.8757C>A (p.Ala2919=) c.6354C>A (p.Ala2118=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336341G>A	CA351191668	COL6A3	c.1404C>T c.8141C>T (p.Ala2714Val) c.886C>T n.1026C>T c.8759C>T (p.Ala2920Val) c.6935C>T (p.Ala2312Val) c.6938C>T (p.Ala2313Val) n.5201C>T c.8159C>T (p.Ala2720Val) c.7538C>T (p.Ala2513Val) c.8258C>T (p.Ala2753Val) c.8756C>T (p.Ala2919Val) c.6353C>T (p.Ala2118Val)
2	g.237336341G>C	CA351191670	COL6A3	c.1404C>G c.8141C>G (p.Ala2714Gly) c.886C>G n.1026C>G c.8759C>G (p.Ala2920Gly) c.6935C>G (p.Ala2312Gly) c.6938C>G (p.Ala2313Gly) n.5201C>G c.8159C>G (p.Ala2720Gly) c.7538C>G (p.Ala2513Gly) c.8258C>G (p.Ala2753Gly) c.8756C>G (p.Ala2919Gly) c.6353C>G (p.Ala2118Gly)	dbSNP gnomAD v2
2	g.237336341G=	CA1337607145	COL6A3	c.1404C= c.8141C= (p.Ala2714=) c.886C= n.1026C= c.8759C= (p.Ala2920=) c.6935C= (p.Ala2312=) c.6938C= (p.Ala2313=) n.5201C= c.8159C= (p.Ala2720=) c.7538C= (p.Ala2513=) c.8258C= (p.Ala2753=) c.8756C= (p.Ala2919=) c.6353C= (p.Ala2118=)
2	g.237336341G>T	CA351191672	COL6A3	c.1404C>A c.8141C>A (p.Ala2714Asp) c.886C>A n.1026C>A c.8759C>A (p.Ala2920Asp) c.6935C>A (p.Ala2312Asp) c.6938C>A (p.Ala2313Asp) n.5201C>A c.8159C>A (p.Ala2720Asp) c.7538C>A (p.Ala2513Asp) c.8258C>A (p.Ala2753Asp) c.8756C>A (p.Ala2919Asp) c.6353C>A (p.Ala2118Asp)	ClinVar dbSNP
2	g.237336342C>A	CA351191674	COL6A3	c.1403G>T c.8140G>T (p.Ala2714Ser) c.885G>T n.1025G>T c.8758G>T (p.Ala2920Ser) c.6934G>T (p.Ala2312Ser) c.6937G>T (p.Ala2313Ser) n.5200G>T c.8158G>T (p.Ala2720Ser) c.7537G>T (p.Ala2513Ser) c.8257G>T (p.Ala2753Ser) c.8755G>T (p.Ala2919Ser) c.6352G>T (p.Ala2118Ser)
2	g.237336342C=	CA1337607146	COL6A3	c.1403G= c.8140G= (p.Ala2714=) c.885G= n.1025G= c.8758G= (p.Ala2920=) c.6934G= (p.Ala2312=) c.6937G= (p.Ala2313=) n.5200G= c.8158G= (p.Ala2720=) c.7537G= (p.Ala2513=) c.8257G= (p.Ala2753=) c.8755G= (p.Ala2919=) c.6352G= (p.Ala2118=)
2	g.237336342C>G	CA351191678	COL6A3	c.1403G>C c.8140G>C (p.Ala2714Pro) c.885G>C n.1025G>C c.8758G>C (p.Ala2920Pro) c.6934G>C (p.Ala2312Pro) c.6937G>C (p.Ala2313Pro) n.5200G>C c.8158G>C (p.Ala2720Pro) c.7537G>C (p.Ala2513Pro) c.8257G>C (p.Ala2753Pro) c.8755G>C (p.Ala2919Pro) c.6352G>C (p.Ala2118Pro)	dbSNP gnomAD v2
2	g.237336342C>T	CA351191679	COL6A3	c.1403G>A c.8140G>A (p.Ala2714Thr) c.885G>A n.1025G>A c.8758G>A (p.Ala2920Thr) c.6934G>A (p.Ala2312Thr) c.6937G>A (p.Ala2313Thr) n.5200G>A c.8158G>A (p.Ala2720Thr) c.7537G>A (p.Ala2513Thr) c.8257G>A (p.Ala2753Thr) c.8755G>A (p.Ala2919Thr) c.6352G>A (p.Ala2118Thr)
2	g.237336343A>C	CA431701986	COL6A3	c.1402T>G c.8139T>G (p.Ala2713=) c.884T>G n.1024T>G c.8757T>G (p.Ala2919=) c.6933T>G (p.Ala2311=) c.6936T>G (p.Ala2312=) n.5199T>G c.8157T>G (p.Ala2719=) c.7536T>G (p.Ala2512=) c.8256T>G (p.Ala2752=) c.8754T>G (p.Ala2918=) c.6351T>G (p.Ala2117=)
2	g.237336343A>G	CA431701988	COL6A3	c.1402T>C c.8139T>C (p.Ala2713=) c.884T>C n.1024T>C c.8757T>C (p.Ala2919=) c.6933T>C (p.Ala2311=) c.6936T>C (p.Ala2312=) n.5199T>C c.8157T>C (p.Ala2719=) c.7536T>C (p.Ala2512=) c.8256T>C (p.Ala2752=) c.8754T>C (p.Ala2918=) c.6351T>C (p.Ala2117=)
2	g.237336343A>T	CA431701991	COL6A3	c.1402T>A c.8139T>A (p.Ala2713=) c.884T>A n.1024T>A c.8757T>A (p.Ala2919=) c.6933T>A (p.Ala2311=) c.6936T>A (p.Ala2312=) n.5199T>A c.8157T>A (p.Ala2719=) c.7536T>A (p.Ala2512=) c.8256T>A (p.Ala2752=) c.8754T>A (p.Ala2918=) c.6351T>A (p.Ala2117=)
2	g.237336344G>A	CA351191680	COL6A3	c.1401C>T c.8138C>T (p.Ala2713Val) c.883C>T n.1023C>T c.8756C>T (p.Ala2919Val) c.6932C>T (p.Ala2311Val) c.6935C>T (p.Ala2312Val) n.5198C>T c.8156C>T (p.Ala2719Val) c.7535C>T (p.Ala2512Val) c.8255C>T (p.Ala2752Val) c.8753C>T (p.Ala2918Val) c.6350C>T (p.Ala2117Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336344G>C	CA351191682	COL6A3	c.1401C>G c.8138C>G (p.Ala2713Gly) c.883C>G n.1023C>G c.8756C>G (p.Ala2919Gly) c.6932C>G (p.Ala2311Gly) c.6935C>G (p.Ala2312Gly) n.5198C>G c.8156C>G (p.Ala2719Gly) c.7535C>G (p.Ala2512Gly) c.8255C>G (p.Ala2752Gly) c.8753C>G (p.Ala2918Gly) c.6350C>G (p.Ala2117Gly)
2	g.237336344G=	CA1337607147	COL6A3	c.1401C= c.8138C= (p.Ala2713=) c.883C= n.1023C= c.8756C= (p.Ala2919=) c.6932C= (p.Ala2311=) c.6935C= (p.Ala2312=) n.5198C= c.8156C= (p.Ala2719=) c.7535C= (p.Ala2512=) c.8255C= (p.Ala2752=) c.8753C= (p.Ala2918=) c.6350C= (p.Ala2117=)
2	g.237336344G>T	CA351191681	COL6A3	c.1401C>A c.8138C>A (p.Ala2713Asp) c.883C>A n.1023C>A c.8756C>A (p.Ala2919Asp) c.6932C>A (p.Ala2311Asp) c.6935C>A (p.Ala2312Asp) n.5198C>A c.8156C>A (p.Ala2719Asp) c.7535C>A (p.Ala2512Asp) c.8255C>A (p.Ala2752Asp) c.8753C>A (p.Ala2918Asp) c.6350C>A (p.Ala2117Asp)
2	g.237336345C>A	CA351191683	COL6A3	c.1400G>T c.8137G>T (p.Ala2713Ser) c.882G>T n.1022G>T c.8755G>T (p.Ala2919Ser) c.6931G>T (p.Ala2311Ser) c.6934G>T (p.Ala2312Ser) n.5197G>T c.8155G>T (p.Ala2719Ser) c.7534G>T (p.Ala2512Ser) c.8254G>T (p.Ala2752Ser) c.8752G>T (p.Ala2918Ser) c.6349G>T (p.Ala2117Ser)
2	g.237336345C>G	CA351191685	COL6A3	c.1400G>C c.8137G>C (p.Ala2713Pro) c.882G>C n.1022G>C c.8755G>C (p.Ala2919Pro) c.6931G>C (p.Ala2311Pro) c.6934G>C (p.Ala2312Pro) n.5197G>C c.8155G>C (p.Ala2719Pro) c.7534G>C (p.Ala2512Pro) c.8254G>C (p.Ala2752Pro) c.8752G>C (p.Ala2918Pro) c.6349G>C (p.Ala2117Pro)
2	g.237336345C>T	CA351191686	COL6A3	c.1400G>A c.8137G>A (p.Ala2713Thr) c.882G>A n.1022G>A c.8755G>A (p.Ala2919Thr) c.6931G>A (p.Ala2311Thr) c.6934G>A (p.Ala2312Thr) n.5197G>A c.8155G>A (p.Ala2719Thr) c.7534G>A (p.Ala2512Thr) c.8254G>A (p.Ala2752Thr) c.8752G>A (p.Ala2918Thr) c.6349G>A (p.Ala2117Thr)	dbSNP gnomAD v4
2	g.237336346C>A	CA431702009	COL6A3	c.1399G>T c.8136G>T (p.Val2712=) c.881G>T n.1021G>T c.8754G>T (p.Val2918=) c.6930G>T (p.Val2310=) c.6933G>T (p.Val2311=) n.5196G>T c.8154G>T (p.Val2718=) c.7533G>T (p.Val2511=) c.8253G>T (p.Val2751=) c.8751G>T (p.Val2917=) c.6348G>T (p.Val2116=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336346C=	CA1337607148	COL6A3	c.1399G= c.8136G= (p.Val2712=) c.881G= n.1021G= c.8754G= (p.Val2918=) c.6930G= (p.Val2310=) c.6933G= (p.Val2311=) n.5196G= c.8154G= (p.Val2718=) c.7533G= (p.Val2511=) c.8253G= (p.Val2751=) c.8751G= (p.Val2917=) c.6348G= (p.Val2116=)
2	g.237336346C>G	CA431702012	COL6A3	c.1399G>C c.8136G>C (p.Val2712=) c.881G>C n.1021G>C c.8754G>C (p.Val2918=) c.6930G>C (p.Val2310=) c.6933G>C (p.Val2311=) n.5196G>C c.8154G>C (p.Val2718=) c.7533G>C (p.Val2511=) c.8253G>C (p.Val2751=) c.8751G>C (p.Val2917=) c.6348G>C (p.Val2116=)
2	g.237336346C>T	CA431702016	COL6A3	c.1399G>A c.8136G>A (p.Val2712=) c.881G>A n.1021G>A c.8754G>A (p.Val2918=) c.6930G>A (p.Val2310=) c.6933G>A (p.Val2311=) n.5196G>A c.8154G>A (p.Val2718=) c.7533G>A (p.Val2511=) c.8253G>A (p.Val2751=) c.8751G>A (p.Val2917=) c.6348G>A (p.Val2116=)	ClinVar dbSNP
2	g.237336347A>C	CA351191688	COL6A3	c.1398T>G c.8135T>G (p.Val2712Gly) c.880T>G n.1020T>G c.8753T>G (p.Val2918Gly) c.6929T>G (p.Val2310Gly) c.6932T>G (p.Val2311Gly) n.5195T>G c.8153T>G (p.Val2718Gly) c.7532T>G (p.Val2511Gly) c.8252T>G (p.Val2751Gly) c.8750T>G (p.Val2917Gly) c.6347T>G (p.Val2116Gly)
2	g.237336347A>G	CA351191690	COL6A3	c.1398T>C c.8135T>C (p.Val2712Ala) c.880T>C n.1020T>C c.8753T>C (p.Val2918Ala) c.6929T>C (p.Val2310Ala) c.6932T>C (p.Val2311Ala) n.5195T>C c.8153T>C (p.Val2718Ala) c.7532T>C (p.Val2511Ala) c.8252T>C (p.Val2751Ala) c.8750T>C (p.Val2917Ala) c.6347T>C (p.Val2116Ala)
2	g.237336347A>T	CA351191692	COL6A3	c.1398T>A c.8135T>A (p.Val2712Glu) c.880T>A n.1020T>A c.8753T>A (p.Val2918Glu) c.6929T>A (p.Val2310Glu) c.6932T>A (p.Val2311Glu) n.5195T>A c.8153T>A (p.Val2718Glu) c.7532T>A (p.Val2511Glu) c.8252T>A (p.Val2751Glu) c.8750T>A (p.Val2917Glu) c.6347T>A (p.Val2116Glu)	gnomAD v4
2	g.237336348C>A	CA351191694	COL6A3	c.1397G>T c.8134G>T (p.Val2712Leu) c.879G>T n.1019G>T c.8752G>T (p.Val2918Leu) c.6928G>T (p.Val2310Leu) c.6931G>T (p.Val2311Leu) n.5194G>T c.8152G>T (p.Val2718Leu) c.7531G>T (p.Val2511Leu) c.8251G>T (p.Val2751Leu) c.8749G>T (p.Val2917Leu) c.6346G>T (p.Val2116Leu)
2	g.237336348C>G	CA351191696	COL6A3	c.1397G>C c.8134G>C (p.Val2712Leu) c.879G>C n.1019G>C c.8752G>C (p.Val2918Leu) c.6928G>C (p.Val2310Leu) c.6931G>C (p.Val2311Leu) n.5194G>C c.8152G>C (p.Val2718Leu) c.7531G>C (p.Val2511Leu) c.8251G>C (p.Val2751Leu) c.8749G>C (p.Val2917Leu) c.6346G>C (p.Val2116Leu)
2	g.237336348C>T	CA351191698	COL6A3	c.1397G>A c.8134G>A (p.Val2712Met) c.879G>A n.1019G>A c.8752G>A (p.Val2918Met) c.6928G>A (p.Val2310Met) c.6931G>A (p.Val2311Met) n.5194G>A c.8152G>A (p.Val2718Met) c.7531G>A (p.Val2511Met) c.8251G>A (p.Val2751Met) c.8749G>A (p.Val2917Met) c.6346G>A (p.Val2116Met)	gnomAD v4
2	g.237336349A>C	CA431702046	COL6A3	c.1396T>G c.8133T>G (p.Pro2711=) c.878T>G n.1018T>G c.8751T>G (p.Pro2917=) c.6927T>G (p.Pro2309=) c.6930T>G (p.Pro2310=) n.5193T>G c.8151T>G (p.Pro2717=) c.7530T>G (p.Pro2510=) c.8250T>G (p.Pro2750=) c.8748T>G (p.Pro2916=) c.6345T>G (p.Pro2115=)
2	g.237336349A>G	CA431702049	COL6A3	c.1396T>C c.8133T>C (p.Pro2711=) c.878T>C n.1018T>C c.8751T>C (p.Pro2917=) c.6927T>C (p.Pro2309=) c.6930T>C (p.Pro2310=) n.5193T>C c.8151T>C (p.Pro2717=) c.7530T>C (p.Pro2510=) c.8250T>C (p.Pro2750=) c.8748T>C (p.Pro2916=) c.6345T>C (p.Pro2115=)
2	g.237336349A>T	CA431702054	COL6A3	c.1396T>A c.8133T>A (p.Pro2711=) c.878T>A n.1018T>A c.8751T>A (p.Pro2917=) c.6927T>A (p.Pro2309=) c.6930T>A (p.Pro2310=) n.5193T>A c.8151T>A (p.Pro2717=) c.7530T>A (p.Pro2510=) c.8250T>A (p.Pro2750=) c.8748T>A (p.Pro2916=) c.6345T>A (p.Pro2115=)
2	g.237336350G>A	CA351191700	COL6A3	c.1395C>T c.8132C>T (p.Pro2711Leu) c.877C>T n.1017C>T c.8750C>T (p.Pro2917Leu) c.6926C>T (p.Pro2309Leu) c.6929C>T (p.Pro2310Leu) n.5192C>T c.8150C>T (p.Pro2717Leu) c.7529C>T (p.Pro2510Leu) c.8249C>T (p.Pro2750Leu) c.8747C>T (p.Pro2916Leu) c.6344C>T (p.Pro2115Leu)
2	g.237336350G>C	CA351191702	COL6A3	c.1395C>G c.8132C>G (p.Pro2711Arg) c.877C>G n.1017C>G c.8750C>G (p.Pro2917Arg) c.6926C>G (p.Pro2309Arg) c.6929C>G (p.Pro2310Arg) n.5192C>G c.8150C>G (p.Pro2717Arg) c.7529C>G (p.Pro2510Arg) c.8249C>G (p.Pro2750Arg) c.8747C>G (p.Pro2916Arg) c.6344C>G (p.Pro2115Arg)
2	g.237336350G=	CA1337607149	COL6A3	c.1395C= c.8132C= (p.Pro2711=) c.877C= n.1017C= c.8750C= (p.Pro2917=) c.6926C= (p.Pro2309=) c.6929C= (p.Pro2310=) n.5192C= c.8150C= (p.Pro2717=) c.7529C= (p.Pro2510=) c.8249C= (p.Pro2750=) c.8747C= (p.Pro2916=) c.6344C= (p.Pro2115=)
2	g.237336350G>T	CA351191703	COL6A3	c.1395C>A c.8132C>A (p.Pro2711His) c.877C>A n.1017C>A c.8750C>A (p.Pro2917His) c.6926C>A (p.Pro2309His) c.6929C>A (p.Pro2310His) n.5192C>A c.8150C>A (p.Pro2717His) c.7529C>A (p.Pro2510His) c.8249C>A (p.Pro2750His) c.8747C>A (p.Pro2916His) c.6344C>A (p.Pro2115His)	ClinVar dbSNP
2	g.237336351G>A	CA2187449	COL6A3	c.1394C>T c.8131C>T (p.Pro2711Ser) c.876C>T n.1016C>T c.8749C>T (p.Pro2917Ser) c.6925C>T (p.Pro2309Ser) c.6928C>T (p.Pro2310Ser) n.5191C>T c.8149C>T (p.Pro2717Ser) c.7528C>T (p.Pro2510Ser) c.8248C>T (p.Pro2750Ser) c.8746C>T (p.Pro2916Ser) c.6343C>T (p.Pro2115Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336351G>C	CA351191711	COL6A3	c.1394C>G c.8131C>G (p.Pro2711Ala) c.876C>G n.1016C>G c.8749C>G (p.Pro2917Ala) c.6925C>G (p.Pro2309Ala) c.6928C>G (p.Pro2310Ala) n.5191C>G c.8149C>G (p.Pro2717Ala) c.7528C>G (p.Pro2510Ala) c.8248C>G (p.Pro2750Ala) c.8746C>G (p.Pro2916Ala) c.6343C>G (p.Pro2115Ala)
2	g.237336351G=	CA1337607150	COL6A3	c.1394C= c.8131C= (p.Pro2711=) c.876C= n.1016C= c.8749C= (p.Pro2917=) c.6925C= (p.Pro2309=) c.6928C= (p.Pro2310=) n.5191C= c.8149C= (p.Pro2717=) c.7528C= (p.Pro2510=) c.8248C= (p.Pro2750=) c.8746C= (p.Pro2916=) c.6343C= (p.Pro2115=)
2	g.237336351G>T	CA351191709	COL6A3	c.1394C>A c.8131C>A (p.Pro2711Thr) c.876C>A n.1016C>A c.8749C>A (p.Pro2917Thr) c.6925C>A (p.Pro2309Thr) c.6928C>A (p.Pro2310Thr) n.5191C>A c.8149C>A (p.Pro2717Thr) c.7528C>A (p.Pro2510Thr) c.8248C>A (p.Pro2750Thr) c.8746C>A (p.Pro2916Thr) c.6343C>A (p.Pro2115Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.237336352T>A	CA351191712	COL6A3	c.1393A>T c.8130A>T (p.Lys2710Asn) c.875A>T n.1015A>T c.8748A>T (p.Lys2916Asn) c.6924A>T (p.Lys2308Asn) c.6927A>T (p.Lys2309Asn) n.5190A>T c.8148A>T (p.Lys2716Asn) c.7527A>T (p.Lys2509Asn) c.8247A>T (p.Lys2749Asn) c.8745A>T (p.Lys2915Asn) c.6342A>T (p.Lys2114Asn)	gnomAD v4
2	g.237336352T>C	CA431702063	COL6A3	c.1393A>G c.8130A>G (p.Lys2710=) c.875A>G n.1015A>G c.8748A>G (p.Lys2916=) c.6924A>G (p.Lys2308=) c.6927A>G (p.Lys2309=) n.5190A>G c.8148A>G (p.Lys2716=) c.7527A>G (p.Lys2509=) c.8247A>G (p.Lys2749=) c.8745A>G (p.Lys2915=) c.6342A>G (p.Lys2114=)
2	g.237336352T>G	CA2187450	COL6A3	c.1393A>C c.8130A>C (p.Lys2710Asn) c.875A>C n.1015A>C c.8748A>C (p.Lys2916Asn) c.6924A>C (p.Lys2308Asn) c.6927A>C (p.Lys2309Asn) n.5190A>C c.8148A>C (p.Lys2716Asn) c.7527A>C (p.Lys2509Asn) c.8247A>C (p.Lys2749Asn) c.8745A>C (p.Lys2915Asn) c.6342A>C (p.Lys2114Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336352T=	CA1337607151	COL6A3	c.1393A= c.8130A= (p.Lys2710=) c.875A= n.1015A= c.8748A= (p.Lys2916=) c.6924A= (p.Lys2308=) c.6927A= (p.Lys2309=) n.5190A= c.8148A= (p.Lys2716=) c.7527A= (p.Lys2509=) c.8247A= (p.Lys2749=) c.8745A= (p.Lys2915=) c.6342A= (p.Lys2114=)
2	g.237336353T>A	CA351191715	COL6A3	c.1392A>T c.8129A>T (p.Lys2710Ile) c.874A>T n.1014A>T c.8747A>T (p.Lys2916Ile) c.6923A>T (p.Lys2308Ile) c.6926A>T (p.Lys2309Ile) n.5189A>T c.8147A>T (p.Lys2716Ile) c.7526A>T (p.Lys2509Ile) c.8246A>T (p.Lys2749Ile) c.8744A>T (p.Lys2915Ile) c.6341A>T (p.Lys2114Ile)
2	g.237336353T>C	CA351191716	COL6A3	c.1392A>G c.8129A>G (p.Lys2710Arg) c.874A>G n.1014A>G c.8747A>G (p.Lys2916Arg) c.6923A>G (p.Lys2308Arg) c.6926A>G (p.Lys2309Arg) n.5189A>G c.8147A>G (p.Lys2716Arg) c.7526A>G (p.Lys2509Arg) c.8246A>G (p.Lys2749Arg) c.8744A>G (p.Lys2915Arg) c.6341A>G (p.Lys2114Arg)
2	g.237336353T>G	CA351191717	COL6A3	c.1392A>C c.8129A>C (p.Lys2710Thr) c.874A>C n.1014A>C c.8747A>C (p.Lys2916Thr) c.6923A>C (p.Lys2308Thr) c.6926A>C (p.Lys2309Thr) n.5189A>C c.8147A>C (p.Lys2716Thr) c.7526A>C (p.Lys2509Thr) c.8246A>C (p.Lys2749Thr) c.8744A>C (p.Lys2915Thr) c.6341A>C (p.Lys2114Thr)
2	g.237336354T>A	CA351191718	COL6A3	c.1391A>T c.8128A>T (p.Lys2710Ter) c.873A>T n.1013A>T c.8746A>T (p.Lys2916Ter) c.6922A>T (p.Lys2308Ter) c.6925A>T (p.Lys2309Ter) n.5188A>T c.8146A>T (p.Lys2716Ter) c.7525A>T (p.Lys2509Ter) c.8245A>T (p.Lys2749Ter) c.8743A>T (p.Lys2915Ter) c.6340A>T (p.Lys2114Ter)
2	g.237336354T>C	CA351191719	COL6A3	c.1391A>G c.8128A>G (p.Lys2710Glu) c.873A>G n.1013A>G c.8746A>G (p.Lys2916Glu) c.6922A>G (p.Lys2308Glu) c.6925A>G (p.Lys2309Glu) n.5188A>G c.8146A>G (p.Lys2716Glu) c.7525A>G (p.Lys2509Glu) c.8245A>G (p.Lys2749Glu) c.8743A>G (p.Lys2915Glu) c.6340A>G (p.Lys2114Glu)	COSMIC
2	g.237336354T>G	CA351191722	COL6A3	c.1391A>C c.8128A>C (p.Lys2710Gln) c.873A>C n.1013A>C c.8746A>C (p.Lys2916Gln) c.6922A>C (p.Lys2308Gln) c.6925A>C (p.Lys2309Gln) n.5188A>C c.8146A>C (p.Lys2716Gln) c.7525A>C (p.Lys2509Gln) c.8245A>C (p.Lys2749Gln) c.8743A>C (p.Lys2915Gln) c.6340A>C (p.Lys2114Gln)
2	g.237336355C>A	CA431702076	COL6A3	c.1390G>T c.8127G>T (p.Ala2709=) c.872G>T n.1012G>T c.8745G>T (p.Ala2915=) c.6921G>T (p.Ala2307=) c.6924G>T (p.Ala2308=) n.5187G>T c.8145G>T (p.Ala2715=) c.7524G>T (p.Ala2508=) c.8244G>T (p.Ala2748=) c.8742G>T (p.Ala2914=) c.6339G>T (p.Ala2113=)	dbSNP
2	g.237336355C=	CA1337607152	COL6A3	c.1390G= c.8127G= (p.Ala2709=) c.872G= n.1012G= c.8745G= (p.Ala2915=) c.6921G= (p.Ala2307=) c.6924G= (p.Ala2308=) n.5187G= c.8145G= (p.Ala2715=) c.7524G= (p.Ala2508=) c.8244G= (p.Ala2748=) c.8742G= (p.Ala2914=) c.6339G= (p.Ala2113=)
2	g.237336355C>G	CA431702078	COL6A3	c.1390G>C c.8127G>C (p.Ala2709=) c.872G>C n.1012G>C c.8745G>C (p.Ala2915=) c.6921G>C (p.Ala2307=) c.6924G>C (p.Ala2308=) n.5187G>C c.8145G>C (p.Ala2715=) c.7524G>C (p.Ala2508=) c.8244G>C (p.Ala2748=) c.8742G>C (p.Ala2914=) c.6339G>C (p.Ala2113=)
2	g.237336355C>T	CA202878	COL6A3	c.1390G>A c.8127G>A (p.Ala2709=) c.872G>A n.1012G>A c.8745G>A (p.Ala2915=) c.6921G>A (p.Ala2307=) c.6924G>A (p.Ala2308=) n.5187G>A c.8145G>A (p.Ala2715=) c.7524G>A (p.Ala2508=) c.8244G>A (p.Ala2748=) c.8742G>A (p.Ala2914=) c.6339G>A (p.Ala2113=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336356G>A	CA2187451	COL6A3	c.1389C>T c.8126C>T (p.Ala2709Val) c.871C>T n.1011C>T c.8744C>T (p.Ala2915Val) c.6920C>T (p.Ala2307Val) c.6923C>T (p.Ala2308Val) n.5186C>T c.8144C>T (p.Ala2715Val) c.7523C>T (p.Ala2508Val) c.8243C>T (p.Ala2748Val) c.8741C>T (p.Ala2914Val) c.6338C>T (p.Ala2113Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336356G>C	CA351191728	COL6A3	c.1389C>G c.8126C>G (p.Ala2709Gly) c.871C>G n.1011C>G c.8744C>G (p.Ala2915Gly) c.6920C>G (p.Ala2307Gly) c.6923C>G (p.Ala2308Gly) n.5186C>G c.8144C>G (p.Ala2715Gly) c.7523C>G (p.Ala2508Gly) c.8243C>G (p.Ala2748Gly) c.8741C>G (p.Ala2914Gly) c.6338C>G (p.Ala2113Gly)
2	g.237336356G=	CA1337607153	COL6A3	c.1389C= c.8126C= (p.Ala2709=) c.871C= n.1011C= c.8744C= (p.Ala2915=) c.6920C= (p.Ala2307=) c.6923C= (p.Ala2308=) n.5186C= c.8144C= (p.Ala2715=) c.7523C= (p.Ala2508=) c.8243C= (p.Ala2748=) c.8741C= (p.Ala2914=) c.6338C= (p.Ala2113=)
2	g.237336356G>T	CA351191731	COL6A3	c.1389C>A c.8126C>A (p.Ala2709Glu) c.871C>A n.1011C>A c.8744C>A (p.Ala2915Glu) c.6920C>A (p.Ala2307Glu) c.6923C>A (p.Ala2308Glu) n.5186C>A c.8144C>A (p.Ala2715Glu) c.7523C>A (p.Ala2508Glu) c.8243C>A (p.Ala2748Glu) c.8741C>A (p.Ala2914Glu) c.6338C>A (p.Ala2113Glu)	dbSNP gnomAD v3 gnomAD v4
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.237336357C>A	CA351191735	COL6A3	c.1388G>T c.8125G>T (p.Ala2709Ser) c.870G>T n.1010G>T c.8743G>T (p.Ala2915Ser) c.6919G>T (p.Ala2307Ser) c.6922G>T (p.Ala2308Ser) n.5185G>T c.8143G>T (p.Ala2715Ser) c.7522G>T (p.Ala2508Ser) c.8242G>T (p.Ala2748Ser) c.8740G>T (p.Ala2914Ser) c.6337G>T (p.Ala2113Ser)
2	g.237336357C=	CA1337607154	COL6A3	c.1388G= c.8125G= (p.Ala2709=) c.870G= n.1010G= c.8743G= (p.Ala2915=) c.6919G= (p.Ala2307=) c.6922G= (p.Ala2308=) n.5185G= c.8143G= (p.Ala2715=) c.7522G= (p.Ala2508=) c.8242G= (p.Ala2748=) c.8740G= (p.Ala2914=) c.6337G= (p.Ala2113=)
2	g.237336357C>G	CA351191734	COL6A3	c.1388G>C c.8125G>C (p.Ala2709Pro) c.870G>C n.1010G>C c.8743G>C (p.Ala2915Pro) c.6919G>C (p.Ala2307Pro) c.6922G>C (p.Ala2308Pro) n.5185G>C c.8143G>C (p.Ala2715Pro) c.7522G>C (p.Ala2508Pro) c.8242G>C (p.Ala2748Pro) c.8740G>C (p.Ala2914Pro) c.6337G>C (p.Ala2113Pro)
2	g.237336357C>T	CA2187452	COL6A3	c.1388G>A c.8125G>A (p.Ala2709Thr) c.870G>A n.1010G>A c.8743G>A (p.Ala2915Thr) c.6919G>A (p.Ala2307Thr) c.6922G>A (p.Ala2308Thr) n.5185G>A c.8143G>A (p.Ala2715Thr) c.7522G>A (p.Ala2508Thr) c.8242G>A (p.Ala2748Thr) c.8740G>A (p.Ala2914Thr) c.6337G>A (p.Ala2113Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336358A>C	CA431702098	COL6A3	c.1387T>G c.8124T>G (p.Pro2708=) c.869T>G n.1009T>G c.8742T>G (p.Pro2914=) c.6918T>G (p.Pro2306=) c.6921T>G (p.Pro2307=) n.5184T>G c.8142T>G (p.Pro2714=) c.7521T>G (p.Pro2507=) c.8241T>G (p.Pro2747=) c.8739T>G (p.Pro2913=) c.6336T>G (p.Pro2112=)
2	g.237336358A>G	CA431702100	COL6A3	c.1387T>C c.8124T>C (p.Pro2708=) c.869T>C n.1009T>C c.8742T>C (p.Pro2914=) c.6918T>C (p.Pro2306=) c.6921T>C (p.Pro2307=) n.5184T>C c.8142T>C (p.Pro2714=) c.7521T>C (p.Pro2507=) c.8241T>C (p.Pro2747=) c.8739T>C (p.Pro2913=) c.6336T>C (p.Pro2112=)
2	g.237336358A>T	CA431702102	COL6A3	c.1387T>A c.8124T>A (p.Pro2708=) c.869T>A n.1009T>A c.8742T>A (p.Pro2914=) c.6918T>A (p.Pro2306=) c.6921T>A (p.Pro2307=) n.5184T>A c.8142T>A (p.Pro2714=) c.7521T>A (p.Pro2507=) c.8241T>A (p.Pro2747=) c.8739T>A (p.Pro2913=) c.6336T>A (p.Pro2112=)
2	g.237336359G>A	CA2187453	COL6A3	c.1386C>T c.8123C>T (p.Pro2708Leu) c.868C>T n.1008C>T c.8741C>T (p.Pro2914Leu) c.6917C>T (p.Pro2306Leu) c.6920C>T (p.Pro2307Leu) n.5183C>T c.8141C>T (p.Pro2714Leu) c.7520C>T (p.Pro2507Leu) c.8240C>T (p.Pro2747Leu) c.8738C>T (p.Pro2913Leu) c.6335C>T (p.Pro2112Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336359G>C	CA351191736	COL6A3	c.1386C>G c.8123C>G (p.Pro2708Arg) c.868C>G n.1008C>G c.8741C>G (p.Pro2914Arg) c.6917C>G (p.Pro2306Arg) c.6920C>G (p.Pro2307Arg) n.5183C>G c.8141C>G (p.Pro2714Arg) c.7520C>G (p.Pro2507Arg) c.8240C>G (p.Pro2747Arg) c.8738C>G (p.Pro2913Arg) c.6335C>G (p.Pro2112Arg)
2	g.237336359G=	CA1337607155	COL6A3	c.1386C= c.8123C= (p.Pro2708=) c.868C= n.1008C= c.8741C= (p.Pro2914=) c.6917C= (p.Pro2306=) c.6920C= (p.Pro2307=) n.5183C= c.8141C= (p.Pro2714=) c.7520C= (p.Pro2507=) c.8240C= (p.Pro2747=) c.8738C= (p.Pro2913=) c.6335C= (p.Pro2112=)
2	g.237336359G>T	CA351191737	COL6A3	c.1386C>A c.8123C>A (p.Pro2708His) c.868C>A n.1008C>A c.8741C>A (p.Pro2914His) c.6917C>A (p.Pro2306His) c.6920C>A (p.Pro2307His) n.5183C>A c.8141C>A (p.Pro2714His) c.7520C>A (p.Pro2507His) c.8240C>A (p.Pro2747His) c.8738C>A (p.Pro2913His) c.6335C>A (p.Pro2112His)
2	g.237336360G>A	CA351191738	COL6A3	c.1385C>T c.8122C>T (p.Pro2708Ser) c.867C>T n.1007C>T c.8740C>T (p.Pro2914Ser) c.6916C>T (p.Pro2306Ser) c.6919C>T (p.Pro2307Ser) n.5182C>T c.8140C>T (p.Pro2714Ser) c.7519C>T (p.Pro2507Ser) c.8239C>T (p.Pro2747Ser) c.8737C>T (p.Pro2913Ser) c.6334C>T (p.Pro2112Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.237336360G>C	CA351191739	COL6A3	c.1385C>G c.8122C>G (p.Pro2708Ala) c.867C>G n.1007C>G c.8740C>G (p.Pro2914Ala) c.6916C>G (p.Pro2306Ala) c.6919C>G (p.Pro2307Ala) n.5182C>G c.8140C>G (p.Pro2714Ala) c.7519C>G (p.Pro2507Ala) c.8239C>G (p.Pro2747Ala) c.8737C>G (p.Pro2913Ala) c.6334C>G (p.Pro2112Ala)
2	g.237336360G=	CA1337607156	COL6A3	c.1385C= c.8122C= (p.Pro2708=) c.867C= n.1007C= c.8740C= (p.Pro2914=) c.6916C= (p.Pro2306=) c.6919C= (p.Pro2307=) n.5182C= c.8140C= (p.Pro2714=) c.7519C= (p.Pro2507=) c.8239C= (p.Pro2747=) c.8737C= (p.Pro2913=) c.6334C= (p.Pro2112=)
2	g.237336360G>T	CA351191740	COL6A3	c.1385C>A c.8122C>A (p.Pro2708Thr) c.867C>A n.1007C>A c.8740C>A (p.Pro2914Thr) c.6916C>A (p.Pro2306Thr) c.6919C>A (p.Pro2307Thr) n.5182C>A c.8140C>A (p.Pro2714Thr) c.7519C>A (p.Pro2507Thr) c.8239C>A (p.Pro2747Thr) c.8737C>A (p.Pro2913Thr) c.6334C>A (p.Pro2112Thr)

Number of alleles fetched