Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
21	g.45990404_45990521del	CA1022879585	COL6A1	c.984_1002+99del	gnomAD v3 gnomAD v4
21	g.45990404_45990615delinsCGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGT	CA2392434118	COL6A1	c.984_1003-158delinsCGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGT
21	g.45990414_45990531del	CA1022879606	COL6A1	c.994_1002+109del	gnomAD v3 gnomAD v4
21	g.45990416_45990626del	CA1022879599	COL6A1	c.996_1003-147del	dbSNP gnomAD v3 gnomAD v4
21	g.45990428_45990510del	CA10069951	COL6A1	c.1002+6_1002+88del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990428_45990545del	CA1022879645	COL6A1	c.1002+6_1002+123del	gnomAD v3 gnomAD v4
21	g.45990428_45990638del	CA2573157625	COL6A1	c.1002+6_1003-135del	ClinVar dbSNP gnomAD v3 gnomAD v4
21	g.45990428_45990605del	CA2560934595	COL6A1	c.1002+6_1003-168del (n.1002+6_1003-168del)
21	g.45990426_45990507del	CA1022879683	COL6A1	c.1002+4_1002+85del (n.1002+4_1002+85del)	gnomAD v3 gnomAD v4
21	g.45990426_45990510delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC	CA2392434136	COL6A1	c.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC (n.1002+4_1002+88delinsACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC)
21	g.45990427_45990508del	CA1022879691	COL6A1	c.1002+5_1002+86del (n.1002+5_1002+86del)	gnomAD v3 gnomAD v4
21	g.45990428_45990511del	CA10069957	COL6A1	c.1002+6_1002+89del (n.1002+6_1002+89del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990428_45990509del	CA2654958545	COL6A1	c.1002+6_1002+87del (n.1002+6_1002+87del)	gnomAD v4
21	g.45990428_45990512delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	CA2392434141	COL6A1	c.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC (n.1002+6_1002+90delinsTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC)
21	g.45990429_45990511del	CA512713455	COL6A1	c.1002+7_1002+89del (n.1002+7_1002+89del)	gnomAD v3 gnomAD v4
21	g.45990433_45990516del	CA1022879702	COL6A1	c.1002+11_1002+94del (n.1002+11_1002+94del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990430_45990510del	CA1022879705	COL6A1	c.1002+8_1002+88del (n.1002+8_1002+88del)	gnomAD v3 gnomAD v4
21	g.45990434_45990516del	CA1022879706	COL6A1	c.1002+12_1002+94del (n.1002+12_1002+94del)	gnomAD v3 gnomAD v4
21	g.45990437_45990518del	CA1022879711	COL6A1	c.1002+15_1002+96del (n.1002+15_1002+96del)	gnomAD v3 gnomAD v4
21	g.45990436_45990511del	CA2654958656	COL6A1	c.1002+14_1002+89del (n.1002+14_1002+89del)	gnomAD v4
21	g.45990439_45990522del	CA1022879724	COL6A1	c.1002+17_1002+100del (n.1002+17_1002+100del)
21	g.45990443_45990552del	CA1022879733	COL6A1	c.1002+21_1002+130del (n.1002+21_1002+130del)	gnomAD v3 gnomAD v4
21	g.45990448_45990531dup	CA2654958824	COL6A1	c.1002+26_1002+109dup (n.1002+26_1002+109dup)	gnomAD v4
21	g.45990443_45990563delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG	CA2392434157	COL6A1	c.1002+21_1002+141delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG (n.1002+21_1002+141delinsTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG)
21	g.45990447_45990521del	CA2654958913	COL6A1	c.1002+25_1002+99del (n.1002+25_1002+99del)	gnomAD v4
21	g.45990459_45990568del	CA1022879749	COL6A1	c.1002+37_1002+146del (n.1002+37_1002+146del)	gnomAD v3 gnomAD v4
21	g.45990457_45990576del	CA1022879748	COL6A1	c.1002+35_1002+154del (n.1002+35_1002+154del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990457_45990521del	CA638178907	COL6A1	c.1002+35_1002+99del (n.1002+35_1002+99del)	gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990453_45990552del	CA1022879780	COL6A1	c.1002+31_1002+130del (n.1002+31_1002+130del)	gnomAD v3 gnomAD v4
21	g.45990458_45990605del	CA2654959029	COL6A1	c.1002+36_1003-168del (n.1002+36_1003-168del)	gnomAD v4
21	g.45990453_45990511del	CA2654959051	COL6A1	c.1002+31_1002+89del (n.1002+31_1002+89del)	gnomAD v4
21	g.45990453_45990553delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA	CA2392434169	COL6A1	c.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA (n.1002+31_1002+131delinsGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA)
21	g.45990458_45990531del	CA2654959060	COL6A1	c.1002+36_1002+109del (n.1002+36_1002+109del)	gnomAD v4
21	g.45990459_45990558del	CA1022879794	COL6A1	c.1002+37_1002+136del (n.1002+37_1002+136del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990456_45990511delinsACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	CA2392434174	COL6A1	c.1002+34_1002+89delinsACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+34_1002+89delinsACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
21	g.45990459_45990513del	CA10069985	COL6A1	c.1002+37_1002+91del (n.1002+37_1002+91del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990459_45990523del	CA2654959102	COL6A1	c.1002+37_1002+101del (n.1002+37_1002+101del)	gnomAD v4
21	g.45990459_45990578del	CA1022879814	COL6A1	c.1002+37_1002+156del (n.1002+37_1002+156del)	gnomAD v3 gnomAD v4
21	g.45990458_45990595del	CA2546751618	COL6A1	c.1002+36_1002+173del (n.1002+36_1002+173del)	gnomAD v4
21	g.45990459_45990559delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG	CA2392434179	COL6A1	c.1002+37_1002+137delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG (n.1002+37_1002+137delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG)
21	g.45990459_45990569delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	CA2392434178	COL6A1	c.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG (n.1002+37_1002+147delinsAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG)
21	g.45990465_45990602del	CA1022879821	COL6A1	c.1002+43_1003-171del (n.1002+43_1003-171del)	gnomAD v3 gnomAD v4
21	g.45990465_45990519del	CA2654959128	COL6A1	c.1002+43_1002+97del (n.1002+43_1002+97del)	gnomAD v4
21	g.45990546_45990547insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC	CA1022879829	COL6A1	c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC)	gnomAD v3 gnomAD v4
21	g.45990463_45990552del	CA2654959135	COL6A1	c.1002+41_1002+130del (n.1002+41_1002+130del)	gnomAD v4
21	g.45990465_45990564del	CA10069993	COL6A1	c.1002+43_1002+142del (n.1002+43_1002+142del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990465_45990574del	CA1022879833	COL6A1	c.1002+43_1002+152del (n.1002+43_1002+152del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990464_45990500del	CA2654959184	COL6A1	c.1002+42_1002+78del (n.1002+42_1002+78del)	gnomAD v4
21	g.45990466_45990562del	CA2654959182	COL6A1	c.1002+44_1002+140del (n.1002+44_1002+140del)	gnomAD v4
21	g.45990464_45990503delinsGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA	CA2392434197	COL6A1	c.1002+42_1002+81delinsGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA (n.1002+42_1002+81delinsGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA)
21	g.45990465_45990528del	CA2654959212	COL6A1	c.1002+43_1002+106del (n.1002+43_1002+106del)	gnomAD v4
21	g.45990465_45990554del	CA638178919	COL6A1	c.1002+43_1002+132del (n.1002+43_1002+132del)	gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990465_45990501del	CA2654959230	COL6A1	c.1002+43_1002+79del (n.1002+43_1002+79del)	gnomAD v4
21	g.45990466_45990504del	CA147303	COL6A1	c.1002+44_1002+82del (n.1002+44_1002+82del)	ClinVar dbSNP
21	g.45990465_45990507del	CA2654959228	COL6A1	c.1002+43_1002+85del (n.1002+43_1002+85del)	gnomAD v4
21	g.45990465_45990509del	CA657675825	COL6A1	c.1002+43_1002+87del (n.1002+43_1002+87del)	gnomAD v4 COSMIC COSMIC
21	g.45990466_45990511delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	CA2392434201	COL6A1	c.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
21	g.45990511_45990512insAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	CA2654970375	COL6A1	c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)	gnomAD v4
21	g.45990526_45990527insGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG	CA2654970376	COL6A1	c.1002+104_1002+105insGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG (n.1002+104_1002+105insGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG)	gnomAD v4
21	g.45990472_45990526del	CA10070003	COL6A1	c.1002+50_1002+104del (n.1002+50_1002+104del)	ExAC gnomAD v4
21	g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG	CA2654970377	COL6A1	c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)	gnomAD v4
21	g.45990533_45990534insCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG	CA2591412799	COL6A1	c.1002+111_1002+112insCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)	gnomAD v3 gnomAD v4
21	g.45990546_45990547insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC	CA1022880802	COL6A1	c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACC)	gnomAD v3 gnomAD v4
21	g.45990472_45990581dup	CA2654970381	COL6A1	c.1002+50_1002+159dup (n.1002+50_1002+159dup)	gnomAD v4
21	g.45990472_45990581del	CA1022880273	COL6A1	c.1002+50_1002+159del (n.1002+50_1002+159del)	gnomAD v3 gnomAD v4
21	g.45990467_45990511del	CA512713596	COL6A1	c.1002+45_1002+89del (n.1002+45_1002+89del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990467_45990512delinsTGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	CA2392434203	COL6A1	c.1002+45_1002+90delinsTGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC (n.1002+45_1002+90delinsTGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC)
21	g.45990467_45990559del	CA1022881037	COL6A1	c.1002+45_1002+137del (n.1002+45_1002+137del)	gnomAD v3 gnomAD v4
21	g.45990472_45990516del	CA10070007	COL6A1	c.1002+50_1002+94del (n.1002+50_1002+94del)	dbSNP ExAC gnomAD v2 gnomAD v4
21	g.45990471_45990520del	CA2654972357	COL6A1	c.1002+49_1002+98del (n.1002+49_1002+98del)	gnomAD v4
21	g.45990470_45990561del	CA2654972356	COL6A1	c.1002+48_1002+139del (n.1002+48_1002+139del)	gnomAD v4
21	g.45990471_45990565del	CA2654972355	COL6A1	c.1002+49_1002+143del (n.1002+49_1002+143del)	gnomAD v4
21	g.45990472_45990571del	CA2516097887	COL6A1	c.1002+50_1002+149del (n.1002+50_1002+149del)	gnomAD v3 gnomAD v4
21	g.45990471_45990575del	CA2654972354	COL6A1	c.1002+49_1002+153del (n.1002+49_1002+153del)	gnomAD v4
21	g.45990469_45990510del	CA2550368243	COL6A1	c.1002+47_1002+88del (n.1002+47_1002+88del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990506_45990507insAGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGG	CA2654972408	COL6A1	c.1002+84_1002+85insAGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGG (n.1002+84_1002+85insAGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGG)	gnomAD v4
21	g.45990511_45990512insGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	CA2654972400	COL6A1	c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)	gnomAD v4
21	g.45990511_45990512insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	CA2818093064	COL6A1	c.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
21	g.45990512_45990513insAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC	CA2654972409	COL6A1	c.1002+90_1002+91insAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC (n.1002+90_1002+91insAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC)	gnomAD v4
21	g.45990516_45990517insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG	CA2818093063	COL6A1	c.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG (n.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG)
21	g.45990556_45990557insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA	CA2654972398	COL6A1	c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA (n.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA)	gnomAD v4
21	g.45990474_45990560del	CA2654972394	COL6A1	c.1002+52_1002+138del (n.1002+52_1002+138del)	gnomAD v4
21	g.45990474_45990563del	CA2591412826	COL6A1	c.1002+52_1002+141del (n.1002+52_1002+141del)	gnomAD v3 gnomAD v4
21	g.45990473_45990566del	CA2654972395	COL6A1	c.1002+51_1002+144del (n.1002+51_1002+144del)	gnomAD v4
21	g.45990476_45990585dup	CA2654972397	COL6A1	c.1002+54_1002+163dup (n.1002+54_1002+163dup)	gnomAD v4
21	g.45990474_45990511delinsAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	CA2392434217	COL6A1	c.1002+52_1002+89delinsAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+52_1002+89delinsAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)
21	g.45990475_45990511del	CA10070019	COL6A1	c.1002+53_1002+89del (n.1002+53_1002+89del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990482_45990526del	CA2654972413	COL6A1	c.1002+60_1002+104del (n.1002+60_1002+104del)	gnomAD v4
21	g.45990482_45990581dup	CA2654972415	COL6A1	c.1002+60_1002+159dup (n.1002+60_1002+159dup)	gnomAD v4
21	g.45990476_45990512del	CA2654972418	COL6A1	c.1002+54_1002+90del (n.1002+54_1002+90del)	gnomAD v4
21	g.45990477_45990511del	CA2654972420	COL6A1	c.1002+55_1002+89del (n.1002+55_1002+89del)	gnomAD v4
21	g.45990479_45990588del	CA2818093066	COL6A1	c.1002+57_1002+166del (n.1002+57_1002+166del)
21	g.45990511_45990512insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	CA638178935	COL6A1	c.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+89_1002+90insGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC)	gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990487_45990521del	CA2572810965	COL6A1	c.1002+65_1002+99del (n.1002+65_1002+99del)	gnomAD v4
21	g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG	CA638178933	COL6A1	c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG	CA638178934	COL6A1	c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990490_45990569del	CA1022881206	COL6A1	c.1002+68_1002+147del (n.1002+68_1002+147del)	gnomAD v3 gnomAD v4
21	g.45990487_45990576del	CA2654972423	COL6A1	c.1002+65_1002+154del (n.1002+65_1002+154del)	gnomAD v4
21	g.45990480_45990510del	CA1022881232	COL6A1	c.1002+58_1002+88del (n.1002+58_1002+88del)	gnomAD v3 gnomAD v4
21	g.45990482_45990500del	CA1022881235	COL6A1	c.1002+60_1002+78del (n.1002+60_1002+78del)	gnomAD v3 gnomAD v4
21	g.45990482_45990511delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC	CA2392434228	COL6A1	c.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC (n.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC)
21	g.45990483_45990511del	CA1022881264	COL6A1	c.1002+61_1002+89del (n.1002+61_1002+89del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990486_45990514del	CA2654972441	COL6A1	c.1002+64_1002+92del (n.1002+64_1002+92del)	gnomAD v4
21	g.45990486_45990510del	CA2654972448	COL6A1	c.1002+64_1002+88del (n.1002+64_1002+88del)	gnomAD v4
21	g.45990486_45990511delinsACGGAGTGGACGGCGTGAAGGTGACC	CA2392434235	COL6A1	c.1002+64_1002+89delinsACGGAGTGGACGGCGTGAAGGTGACC (n.1002+64_1002+89delinsACGGAGTGGACGGCGTGAAGGTGACC)
21	g.45990490_45990514del	CA1022881318	COL6A1	c.1002+68_1002+92del (n.1002+68_1002+92del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990490_45990519del	CA2654972454	COL6A1	c.1002+68_1002+97del (n.1002+68_1002+97del)	gnomAD v4
21	g.45990490_45990524del	CA2654972455	COL6A1	c.1002+68_1002+102del (n.1002+68_1002+102del)	gnomAD v4
21	g.45990490_45990579del	CA638178938	COL6A1	c.1002+68_1002+157del (n.1002+68_1002+157del)	gnomAD v2 gnomAD v4
21	g.45990490_45990607del	CA638178939	COL6A1	c.1002+68_1003-166del (n.1002+68_1003-166del)	gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990490_45990504del	CA2654972460	COL6A1	c.1002+68_1002+82del (n.1002+68_1002+82del)	gnomAD v4
21	g.45990490_45990512del	CA1022881338	COL6A1	c.1002+68_1002+90del (n.1002+68_1002+90del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990490_45990522del	CA1022881340	COL6A1	c.1002+68_1002+100del (n.1002+68_1002+100del)	gnomAD v3 gnomAD v4
21	g.45990490_45990525delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGG	CA2392434241	COL6A1	c.1002+68_1002+103delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGG (n.1002+68_1002+103delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGG)
21	g.45990490_45990618delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG	CA2392434242	COL6A1	c.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG (n.1002+68_1003-155delinsAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG)
21	g.45990492_45990514del	CA2654972466	COL6A1	c.1002+70_1002+92del (n.1002+70_1002+92del)	gnomAD v4
21	g.45990492_45990515del	CA2654972469	COL6A1	c.1002+70_1002+93del (n.1002+70_1002+93del)	gnomAD v4
21	g.45990492_45990516del	CA2654972461	COL6A1	c.1002+70_1002+94del (n.1002+70_1002+94del)	gnomAD v4
21	g.45990497_45990531dup	CA2591412870	COL6A1	c.1002+75_1002+109dup (n.1002+75_1002+109dup)	gnomAD v3 gnomAD v4
21	g.45990497_45990531del	CA1022881347	COL6A1	c.1002+75_1002+109del (n.1002+75_1002+109del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990492_45990571del	CA2654972463	COL6A1	c.1002+70_1002+149del (n.1002+70_1002+149del)	gnomAD v4
21	g.45990499_45990626del	CA1022881350	COL6A1	c.1002+77_1003-147del (n.1002+77_1003-147del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990492_45990499delinsTGGACGGC	CA2392434245	COL6A1	c.1002+70_1002+77delinsTGGACGGC (n.1002+70_1002+77delinsTGGACGGC)
21	g.45990492_45990512delinsTGGACGGCGTGAAGGTGACCC	CA2392434246	COL6A1	c.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC (n.1002+70_1002+90delinsTGGACGGCGTGAAGGTGACCC)
21	g.45990494_45990500del	CA1022881370	COL6A1	c.1002+72_1002+78del (n.1002+72_1002+78del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990495_45990514del	CA1022881368	COL6A1	c.1002+73_1002+92del (n.1002+73_1002+92del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990495_45990515del	CA2654972475	COL6A1	c.1002+73_1002+93del (n.1002+73_1002+93del)	gnomAD v4
21	g.45990493_45990516del	CA2654972473	COL6A1	c.1002+71_1002+94del (n.1002+71_1002+94del)	gnomAD v4
21	g.45990494_45990516del	CA2654972474	COL6A1	c.1002+72_1002+94del (n.1002+72_1002+94del)	gnomAD v4
21	g.45990496_45990517del	CA2654972472	COL6A1	c.1002+74_1002+95del (n.1002+74_1002+95del)	gnomAD v4
21	g.45990494_45990503del	CA1022881374	COL6A1	c.1002+72_1002+81del (n.1002+72_1002+81del)	gnomAD v3 gnomAD v4
21	g.45990495_45990501del	CA1022881380	COL6A1	c.1002+73_1002+79del (n.1002+73_1002+79del)	gnomAD v3 gnomAD v4
21	g.45990495_45990512del	CA1022881381	COL6A1	c.1002+73_1002+90del (n.1002+73_1002+90del)	gnomAD v3 gnomAD v4
21	g.45990495_45990517del	CA2654972479	COL6A1	c.1002+73_1002+95del (n.1002+73_1002+95del)	gnomAD v4
21	g.45990496_45990512del	CA1022881411	COL6A1	c.1002+74_1002+90del (n.1002+74_1002+90del)	gnomAD v3 gnomAD v4
21	g.45990496_45990514del	CA1022881412	COL6A1	c.1002+74_1002+92del (n.1002+74_1002+92del)	gnomAD v3 gnomAD v4
21	g.45990499_45990514del	CA2654972483	COL6A1	c.1002+77_1002+92del (n.1002+77_1002+92del)	gnomAD v4
21	g.45990496_45990518del	CA2654972482	COL6A1	c.1002+74_1002+96del (n.1002+74_1002+96del)	gnomAD v4
21	g.45990496_45990527del	CA2654972481	COL6A1	c.1002+74_1002+105del (n.1002+74_1002+105del)	gnomAD v4
21	g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGACGGAGAGTTCGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG	CA1022881400	COL6A1	c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGACGGAGAGTTCGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGACGGAGAGTTCGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG)
21	g.45990497_45990499delinsAGT	CA2818093068	COL6A1	c.1002+75_1002+77delinsAGT (n.1002+75_1002+77delinsAGT)
21	g.45990499_45990533dup	CA2654972488	COL6A1	c.1002+77_1002+111dup (n.1002+77_1002+111dup)	gnomAD v4
21	g.45990499C>A	CA749831609	COL6A1	c.1002+77C>A (n.1002+77C>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990499C=	CA2392434254	COL6A1	c.1002+77C= (n.1002+77C=)
21	g.45990499C>G	CA1022881418	COL6A1	c.1002+77C>G (n.1002+77C>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990499C>T	CA321964737	COL6A1	c.1002+77C>T (n.1002+77C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990499_45990517delinsCGTGAAGGTGACCCGGGGA	CA2392434255	COL6A1	c.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA (n.1002+77_1002+95delinsCGTGAAGGTGACCCGGGGA)
21	g.45990500G>A	CA749831625	COL6A1	c.1002+78G>A (n.1002+78G>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990500G>C	CA2654972492	COL6A1	c.1002+78G>C (n.1002+78G>C)	gnomAD v4
21	g.45990500G=	CA2392434256	COL6A1	c.1002+78G= (n.1002+78G=)
21	g.45990500G>T	CA2654972493	COL6A1	c.1002+78G>T (n.1002+78G>T)	dbSNP gnomAD v4
21	g.45990500_45990501insGGAAGG	CA2516124913	COL6A1	c.1002+78_1002+79insGGAAGG (n.1002+78_1002+79insGGAAGG)
21	g.45990504_45990509del	CA2577628519	COL6A1	c.1002+82_1002+87del (n.1002+82_1002+87del)
21	g.45990501_45990514del	CA2654972489	COL6A1	c.1002+79_1002+92del (n.1002+79_1002+92del)	gnomAD v4
21	g.45990501_45990518del	CA1022881430	COL6A1	c.1002+79_1002+96del (n.1002+79_1002+96del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990512_45990546dup	CA512713668	COL6A1	c.1002+90_1002+124dup (n.1002+90_1002+124dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990512_45990546del	CA2654972490	COL6A1	c.1002+90_1002+124del (n.1002+90_1002+124del)	dbSNP gnomAD v4
21	g.45990501_45990583del	CA2654972491	COL6A1	c.1002+79_1002+161del (n.1002+79_1002+161del)	gnomAD v4
21	g.45990513_45990640del	CA1022881433	COL6A1	c.1002+91_1003-133del (n.1002+91_1003-133del)	gnomAD v3 gnomAD v4
21	g.45990501T>A	CA2654972494	COL6A1	c.1002+79T>A (n.1002+79T>A)	gnomAD v4
21	g.45990501T>C	CA1022881437	COL6A1	c.1002+79T>C (n.1002+79T>C)	gnomAD v3 gnomAD v4
21	g.45990501T>G	CA1022881441	COL6A1	c.1002+79T>G (n.1002+79T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990501T=	CA2392434257	COL6A1	c.1002+79T= (n.1002+79T=)
21	g.45990502G>C	CA2654972497	COL6A1	c.1002+80G>C (n.1002+80G>C)	gnomAD v4
21	g.45990502G>T	CA2654972498	COL6A1	c.1002+80G>T (n.1002+80G>T)	gnomAD v4
21	g.45990502_45990503del	CA2654972496	COL6A1	c.1002+80_1002+81del (n.1002+80_1002+81del)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972495	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGGGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990503A>C	CA1022881450	COL6A1	c.1002+81A>C (n.1002+81A>C)	gnomAD v3 gnomAD v4
21	g.45990503A>G	CA1022881451	COL6A1	c.1002+81A>G (n.1002+81A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990503A>T	CA2591412881	COL6A1	c.1002+81A>T (n.1002+81A>T)	gnomAD v3 gnomAD v4
21	g.45990503_45990504insGGC	CA2654972499	COL6A1	c.1002+81_1002+82insGGC (n.1002+81_1002+82insGGC)	gnomAD v4
21	g.45990504A>C	CA1022881452	COL6A1	c.1002+82A>C (n.1002+82A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990504A>G	CA1022881454	COL6A1	c.1002+82A>G (n.1002+82A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990504A>T	CA2577628520	COL6A1	c.1002+82A>T (n.1002+82A>T)	gnomAD v4
21	g.45990504_45990511del	CA2654972500	COL6A1	c.1002+82_1002+89del (n.1002+82_1002+89del)	gnomAD v4
21	g.45990505G>A	CA2654972501	COL6A1	c.1002+83G>A (n.1002+83G>A)	gnomAD v4
21	g.45990505G>T	CA2591412883	COL6A1	c.1002+83G>T (n.1002+83G>T)	gnomAD v3 gnomAD v4
21	g.45990506_45990507insGGGCCCGGGGAGGGATGGG	CA2515476430	COL6A1	c.1002+84_1002+85insGGGCCCGGGGAGGGATGGG (n.1002+84_1002+85insGGGCCCGGGGAGGGATGGG)
21	g.45990506dup	CA2818093070	COL6A1	c.1002+84dup (n.1002+84dup)
21	g.45990507_45990514del	CA2654972502	COL6A1	c.1002+85_1002+92del (n.1002+85_1002+92del)	gnomAD v4
21	g.45990506G>A	CA2654972504	COL6A1	c.1002+84G>A (n.1002+84G>A)	gnomAD v4
21	g.45990506G>C	CA2818093071	COL6A1	c.1002+84G>C (n.1002+84G>C)
21	g.45990506G>T	CA2654972505	COL6A1	c.1002+84G>T (n.1002+84G>T)	gnomAD v4
21	g.45990507_45990508del	CA2654972503	COL6A1	c.1002+85_1002+86del (n.1002+85_1002+86del)	gnomAD v4
21	g.45990506_45990507insC	CA2654972506	COL6A1	c.1002+84_1002+85insC (n.1002+84_1002+85insC)	gnomAD v4
21	g.45990506_45990507insCTGTCTCTTATACACATC	CA2654972507	COL6A1	c.1002+84_1002+85insCTGTCTCTTATACACATC (n.1002+84_1002+85insCTGTCTCTTATACACATC)	gnomAD v4
21	g.45990507T>A	CA1022881458	COL6A1	c.1002+85T>A (n.1002+85T>A)	gnomAD v3 gnomAD v4
21	g.45990507T>G	CA321964739	COL6A1	c.1002+85T>G (n.1002+85T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990507T=	CA2392434258	COL6A1	c.1002+85T= (n.1002+85T=)
21	g.45990507_45990509del	CA2654972508	COL6A1	c.1002+85_1002+87del (n.1002+85_1002+87del)	gnomAD v4
21	g.45990508G>A	CA2654972510	COL6A1	c.1002+86G>A (n.1002+86G>A)	gnomAD v4
21	g.45990508G>T	CA2654972511	COL6A1	c.1002+86G>T (n.1002+86G>T)	gnomAD v4
21	g.45990509_45990518del	CA2654972509	COL6A1	c.1002+87_1002+96del (n.1002+87_1002+96del)	gnomAD v4
21	g.45990509del	CA2577628521	COL6A1	c.1002+87del (n.1002+87del)	gnomAD v4
21	g.45990509A>C	CA2591412886	COL6A1	c.1002+87A>C (n.1002+87A>C)	gnomAD v3 gnomAD v4
21	g.45990509A>G	CA1022881460	COL6A1	c.1002+87A>G (n.1002+87A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990509A>T	CA2654972512	COL6A1	c.1002+87A>T (n.1002+87A>T)	gnomAD v4
21	g.45990509_45990510delinsAC	CA2695196454	COL6A1	c.1002+87_1002+88delinsAC (n.1002+87_1002+88delinsAC)
21	g.45990509_45990511delinsACC	CA2392434259	COL6A1	c.1002+87_1002+89delinsACC (n.1002+87_1002+89delinsACC)
21	g.45990509_45990510insT	CA1022881463	COL6A1	c.1002+87_1002+88insT (n.1002+87_1002+88insT)	gnomAD v3 gnomAD v4
21	g.45990510C>A	CA2591412887	COL6A1	c.1002+88C>A (n.1002+88C>A)	gnomAD v3 gnomAD v4
21	g.45990510C=	CA2392434261	COL6A1	c.1002+88C= (n.1002+88C=)
21	g.45990510C>G	CA749831628	COL6A1	c.1002+88C>G (n.1002+88C>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990510C>T	CA2654972514	COL6A1	c.1002+88C>T (n.1002+88C>T)	gnomAD v4
21	g.45990510_45990512del	CA2654972513	COL6A1	c.1002+88_1002+90del (n.1002+88_1002+90del)	gnomAD v4
21	g.45990512del	CA321964741	COL6A1	c.1002+90del (n.1002+90del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21	g.45990511_45990512del	CA2392434260	COL6A1	c.1002+89_1002+90del (n.1002+89_1002+90del)	dbSNP
21	g.45990510_45990511insTCTTA	CA2654972517	COL6A1	c.1002+88_1002+89insTCTTA (n.1002+88_1002+89insTCTTA)	gnomAD v4
21	g.45990511C>A	CA1022881467	COL6A1	c.1002+89C>A (n.1002+89C>A)	gnomAD v3 gnomAD v4
21	g.45990511C>G	CA1022881468	COL6A1	c.1002+89C>G (n.1002+89C>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990511C>T	CA1022881469	COL6A1	c.1002+89C>T (n.1002+89C>T)	gnomAD v3 gnomAD v4
21	g.45990511_45990512insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC	CA2654972518	COL6A1	c.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC (n.1002+89_1002+90insGGGGTGGGATGGGGTGGACAGTGTGAAGGTGAC)	gnomAD v4
21	g.45990516_45990517insTGGGTTGGGGTGGACAGTGTGAAGGTGACCGGGG	CA2654972515	COL6A1	c.1002+94_1002+95insTGGGTTGGGGTGGACAGTGTGAAGGTGACCGGGG (n.1002+94_1002+95insTGGGTTGGGGTGGACAGTGTGAAGGTGACCGGGG)	gnomAD v4
21	g.45990520_45990521insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG	CA2654972519	COL6A1	c.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG (n.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG)	gnomAD v4
21	g.45990521_45990522insGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGA	CA2654972523	COL6A1	c.1002+99_1002+100insGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGA (n.1002+99_1002+100insGGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGA)	gnomAD v4
21	g.45990531_45990532insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC	CA2654972520	COL6A1	c.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC (n.1002+109_1002+110insGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGAC)	gnomAD v4
21	g.45990533_45990534insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAG	CA638178943	COL6A1	c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAG (n.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAG)	gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990513_45990546dup	CA1022881466	COL6A1	c.1002+91_1002+124dup (n.1002+91_1002+124dup)	gnomAD v3 gnomAD v4
21	g.45990511_45990565del	CA2654972516	COL6A1	c.1002+89_1002+143del (n.1002+89_1002+143del)	gnomAD v4
21	g.45990568_45990569insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG	CA2654972522	COL6A1	c.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG (n.1002+146_1002+147insAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACG)	gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA2654972521	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	gnomAD v4
21	g.45990511_45990512insAGGGGACGGA	CA2654972527	COL6A1	c.1002+89_1002+90insAGGGGACGGA (n.1002+89_1002+90insAGGGGACGGA)	gnomAD v4
21	g.45990511_45990512insAGTGGAAGGACTGGGAGTGA	CA2818093075	COL6A1	c.1002+89_1002+90insAGTGGAAGGACTGGGAGTGA (n.1002+89_1002+90insAGTGGAAGGACTGGGAGTGA)
21	g.45990511_45990512insAGGGGAAGGCCGGGGAGGGA	CA1022881476	COL6A1	c.1002+89_1002+90insAGGGGAAGGCCGGGGAGGGA (n.1002+89_1002+90insAGGGGAAGGCCGGGGAGGGA)	gnomAD v3 gnomAD v4
21	g.45990511_45990512insAGGGGAAGGACGGGGAGGGA	CA1022881479	COL6A1	c.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA (n.1002+89_1002+90insAGGGGAAGGACGGGGAGGGA)	dbSNP gnomAD v3 gnomAD v4
21	g.45990511_45990512insAGGGGACGGACGGGGAGGGA	CA2654972525	COL6A1	c.1002+89_1002+90insAGGGGACGGACGGGGAGGGA (n.1002+89_1002+90insAGGGGACGGACGGGGAGGGA)	gnomAD v4
21	g.45990512C>A	CA638178944	COL6A1	c.1002+90C>A (n.1002+90C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990512C=	CA2392434262	COL6A1	c.1002+90C= (n.1002+90C=)
21	g.45990512C>G	CA638178945	COL6A1	c.1002+90C>G (n.1002+90C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990512C>T	CA321964748	COL6A1	c.1002+90C>T (n.1002+90C>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990512_45990513del	CA2654972524	COL6A1	c.1002+90_1002+91del (n.1002+90_1002+91del)	gnomAD v4
21	g.45990522_45990566del	CA2654972526	COL6A1	c.1002+100_1002+144del (n.1002+100_1002+144del)	gnomAD v4
21	g.45990529_45990583dup	CA2516619849	COL6A1	c.1002+107_1002+161dup (n.1002+107_1002+161dup)
21	g.45990529_45990583del	CA1022881474	COL6A1	c.1002+107_1002+161del (n.1002+107_1002+161del)	gnomAD v3 gnomAD v4
21	g.45990512_45990513insCA	CA1022881492	COL6A1	c.1002+90_1002+91insCA (n.1002+90_1002+91insCA)	gnomAD v3 gnomAD v4
21	g.45990512_45990513insCAG	CA2818093077	COL6A1	c.1002+90_1002+91insCAG (n.1002+90_1002+91insCAG)
21	g.45990513G>A	CA321964752	COL6A1	c.1002+91G>A (n.1002+91G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990513G>C	CA2654972528	COL6A1	c.1002+91G>C (n.1002+91G>C)	gnomAD v4
21	g.45990513G=	CA2392434263	COL6A1	c.1002+91G= (n.1002+91G=)
21	g.45990513G>T	CA2544938785	COL6A1	c.1002+91G>T (n.1002+91G>T)	dbSNP gnomAD v4
21	g.45990513_45990516del	CA2654972531	COL6A1	c.1002+91_1002+94del (n.1002+91_1002+94del)	gnomAD v4
21	g.45990516dup	CA2654972532	COL6A1	c.1002+94dup (n.1002+94dup)	gnomAD v4
21	g.45990516del	CA1022881486	COL6A1	c.1002+94del (n.1002+94del)	gnomAD v3 gnomAD v4
21	g.45990515_45990526dup	CA2737648876	COL6A1	c.1002+93_1002+104dup (n.1002+93_1002+104dup)	dbSNP
21	g.45990513_45990530del	CA2654972530	COL6A1	c.1002+91_1002+108del (n.1002+91_1002+108del)	gnomAD v4
21	g.45990518_45990552dup	CA1022881488	COL6A1	c.1002+96_1002+130dup (n.1002+96_1002+130dup)	gnomAD v3 gnomAD v4
21	g.45990518_45990552del	CA2654972529	COL6A1	c.1002+96_1002+130del (n.1002+96_1002+130del)	gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA2550858718	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA1022881490	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v3 gnomAD v4
21	g.45990514G>C	CA2654972533	COL6A1	c.1002+92G>C (n.1002+92G>C)	gnomAD v4
21	g.45990514G>T	CA1022881497	COL6A1	c.1002+92G>T (n.1002+92G>T)	gnomAD v3 gnomAD v4
21	g.45990518_45990521del	CA2654972534	COL6A1	c.1002+96_1002+99del (n.1002+96_1002+99del)	dbSNP gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA1022881496	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	gnomAD v3 gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972535	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCAGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990520_45990612del	CA2654972536	COL6A1	c.1002+98_1003-161del (n.1002+98_1003-161del)	gnomAD v4
21	g.45990514_45990515insCA	CA2654972537	COL6A1	c.1002+92_1002+93insCA (n.1002+92_1002+93insCA)	gnomAD v4
21	g.45990515G>A	CA2654972538	COL6A1	c.1002+93G>A (n.1002+93G>A)	gnomAD v4
21	g.45990515G>T	CA2654972539	COL6A1	c.1002+93G>T (n.1002+93G>T)	gnomAD v4
21	g.45990516G>A	CA2527804630	COL6A1	c.1002+94G>A (n.1002+94G>A)	gnomAD v4
21	g.45990516G>C	CA2654972540	COL6A1	c.1002+94G>C (n.1002+94G>C)	gnomAD v4
21	g.45990516G>T	CA2654972541	COL6A1	c.1002+94G>T (n.1002+94G>T)	gnomAD v4
21	g.45990517_45990518del	CA1022881501	COL6A1	c.1002+95_1002+96del (n.1002+95_1002+96del)	gnomAD v3 gnomAD v4
21	g.45990517del	CA1022881504	COL6A1	c.1002+95del (n.1002+95del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990517A>C	CA1022881507	COL6A1	c.1002+95A>C (n.1002+95A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990517A>G	CA1022881510	COL6A1	c.1002+95A>G (n.1002+95A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990517A>T	CA2577628522	COL6A1	c.1002+95A>T (n.1002+95A>T)	gnomAD v3 gnomAD v4
21	g.45990517dup	CA1022881503	COL6A1	c.1002+95dup (n.1002+95dup)	gnomAD v3 gnomAD v4
21	g.45990517_45990522del	CA2654972543	COL6A1	c.1002+95_1002+100del (n.1002+95_1002+100del)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972542	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGTAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990517_45990518insC	CA2654972544	COL6A1	c.1002+95_1002+96insC (n.1002+95_1002+96insC)	gnomAD v4
21	g.45990518G>A	CA321964754	COL6A1	c.1002+96G>A (n.1002+96G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990518G>C	CA2654972545	COL6A1	c.1002+96G>C (n.1002+96G>C)	gnomAD v4
21	g.45990518G=	CA2392434264	COL6A1	c.1002+96G= (n.1002+96G=)
21	g.45990518G>T	CA1022881515	COL6A1	c.1002+96G>T (n.1002+96G>T)	gnomAD v3 gnomAD v4
21	g.45990520del	CA2654972546	COL6A1	c.1002+98del (n.1002+98del)	gnomAD v4
21	g.45990521_45990525del	CA1022881518	COL6A1	c.1002+99_1002+103del (n.1002+99_1002+103del)	gnomAD v3 gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA2654972547	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA1022881517	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGGGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	gnomAD v3 gnomAD v4
21	g.45990519G>A	CA2654972551	COL6A1	c.1002+97G>A (n.1002+97G>A)	gnomAD v4
21	g.45990519G>C	CA2654972549	COL6A1	c.1002+97G>C (n.1002+97G>C)	gnomAD v4
21	g.45990519G>T	CA2654972548	COL6A1	c.1002+97G>T (n.1002+97G>T)	gnomAD v4
21	g.45990519_45990521del	CA1022881530	COL6A1	c.1002+97_1002+99del (n.1002+97_1002+99del)	gnomAD v3 gnomAD v4
21	g.45990521_45990524del	CA1022881529	COL6A1	c.1002+99_1002+102del (n.1002+99_1002+102del)	gnomAD v3 gnomAD v4
21	g.45990522_45990530del	CA2654972550	COL6A1	c.1002+100_1002+108del (n.1002+100_1002+108del)	gnomAD v4
21	g.45990519_45990520insAGATCGGAA	CA2654972552	COL6A1	c.1002+97_1002+98insAGATCGGAA (n.1002+97_1002+98insAGATCGGAA)	gnomAD v4
21	g.45990520G>A	CA2577628523	COL6A1	c.1002+98G>A (n.1002+98G>A)	gnomAD v4
21	g.45990520G>C	CA2654972553	COL6A1	c.1002+98G>C (n.1002+98G>C)	dbSNP gnomAD v4
21	g.45990520G>T	CA1022881535	COL6A1	c.1002+98G>T (n.1002+98G>T)	gnomAD v3 gnomAD v4
21	g.45990521del	CA1022881542	COL6A1	c.1002+99del (n.1002+99del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990521A=	CA2392434265	COL6A1	c.1002+99A= (n.1002+99A=)
21	g.45990521A>C	CA1022881544	COL6A1	c.1002+99A>C (n.1002+99A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990521A>G	CA1022881540	COL6A1	c.1002+99A>G (n.1002+99A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990521A>T	CA1022881539	COL6A1	c.1002+99A>T (n.1002+99A>T)	gnomAD v3 gnomAD v4
21	g.45990521_45990522del	CA1022881541	COL6A1	c.1002+99_1002+100del (n.1002+99_1002+100del)	gnomAD v3 gnomAD v4
21	g.45990546_45990547insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC	CA2654972554	COL6A1	c.1002+124_1002+125insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA1022881537	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGTATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	gnomAD v3 gnomAD v4
21	g.45990522del	CA2654972557	COL6A1	c.1002+100del (n.1002+100del)	gnomAD v4
21	g.45990522T>A	CA1022881557	COL6A1	c.1002+100T>A (n.1002+100T>A)	gnomAD v3 gnomAD v4
21	g.45990522T>C	CA321964758	COL6A1	c.1002+100T>C (n.1002+100T>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990522T>G	CA1022881561	COL6A1	c.1002+100T>G (n.1002+100T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990522T=	CA2392434266	COL6A1	c.1002+100T= (n.1002+100T=)
21	g.45990522_45990527del	CA2654972559	COL6A1	c.1002+100_1002+105del (n.1002+100_1002+105del)	gnomAD v4
21	g.45990525_45990529del	CA2654972558	COL6A1	c.1002+103_1002+107del (n.1002+103_1002+107del)	gnomAD v4
21	g.45990546_45990547insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC	CA2654972555	COL6A1	c.1002+124_1002+125insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972556	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGCTGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990532_45990624del	CA1022881555	COL6A1	c.1002+110_1003-149del (n.1002+110_1003-149del)	gnomAD v3 gnomAD v4
21	g.45990523G>A	CA638178946	COL6A1	c.1002+101G>A (n.1002+101G>A)	dbSNP gnomAD v2 gnomAD v4
21	g.45990523G>C	CA2654972561	COL6A1	c.1002+101G>C (n.1002+101G>C)	gnomAD v4
21	g.45990523G=	CA2392434267	COL6A1	c.1002+101G= (n.1002+101G=)
21	g.45990523G>T	CA1022881565	COL6A1	c.1002+101G>T (n.1002+101G>T)	gnomAD v3 gnomAD v4
21	g.45990526del	CA2654972563	COL6A1	c.1002+104del (n.1002+104del)	gnomAD v4
21	g.45990546_45990547insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC	CA2654972564	COL6A1	c.1002+124_1002+125insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990527_45990571del	CA2654972562	COL6A1	c.1002+105_1002+149del (n.1002+105_1002+149del)	gnomAD v4
21	g.45990576_45990577insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA	CA2654972560	COL6A1	c.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA (n.1002+154_1002+155insGGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGA)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972565	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990524G>A	CA1022881566	COL6A1	c.1002+102G>A (n.1002+102G>A)	gnomAD v3 gnomAD v4
21	g.45990524G>C	CA2654972567	COL6A1	c.1002+102G>C (n.1002+102G>C)	gnomAD v4
21	g.45990524G=	CA2392434268	COL6A1	c.1002+102G= (n.1002+102G=)
21	g.45990524G>T	CA1022881571	COL6A1	c.1002+102G>T (n.1002+102G>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990546_45990547insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC	CA2654972566	COL6A1	c.1002+124_1002+125insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATAGGGTGGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2818093085	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATTGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
21	g.45990525G>A	CA2392434270	COL6A1	c.1002+103G>A (n.1002+103G>A)	dbSNP gnomAD v4
21	g.45990525G>C	CA1022881578	COL6A1	c.1002+103G>C (n.1002+103G>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990525G=	CA2392434269	COL6A1	c.1002+103G= (n.1002+103G=)
21	g.45990525G>T	CA2392434271	COL6A1	c.1002+103G>T (n.1002+103G>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990546_45990547insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC	CA2654972568	COL6A1	c.1002+124_1002+125insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGTGGTGGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990526G>A	CA2654972570	COL6A1	c.1002+104G>A (n.1002+104G>A)	gnomAD v4
21	g.45990526G=	CA2392434272	COL6A1	c.1002+104G= (n.1002+104G=)
21	g.45990526G>T	CA321964768	COL6A1	c.1002+104G>T (n.1002+104G>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990526_45990527insCGAGATGGGGAGGGACGGAG	CA2654972569	COL6A1	c.1002+104_1002+105insCGAGATGGGGAGGGACGGAG (n.1002+104_1002+105insCGAGATGGGGAGGGACGGAG)	gnomAD v4
21	g.45990526_45990527insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG	CA2654972572	COL6A1	c.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG (n.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG)	gnomAD v4
21	g.45990546_45990547insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC	CA2654972573	COL6A1	c.1002+124_1002+125insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGAGTGGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972571	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGACGGAGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990526_45990527insA	CA1022881595	COL6A1	c.1002+104_1002+105insA (n.1002+104_1002+105insA)	gnomAD v3 gnomAD v4
21	g.45990526_45990527insAGAGA	CA2818093086	COL6A1	c.1002+104_1002+105insAGAGA (n.1002+104_1002+105insAGAGA)
21	g.45990526_45990527insCGAGA	CA1022881594	COL6A1	c.1002+104_1002+105insCGAGA (n.1002+104_1002+105insCGAGA)	gnomAD v3 gnomAD v4
21	g.45990527del	CA2654972574	COL6A1	c.1002+105del (n.1002+105del)	gnomAD v4
21	g.45990527T>A	CA1022881593	COL6A1	c.1002+105T>A (n.1002+105T>A)	gnomAD v3 gnomAD v4
21	g.45990527T>C	CA749831643	COL6A1	c.1002+105T>C (n.1002+105T>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990527T>G	CA1022881585	COL6A1	c.1002+105T>G (n.1002+105T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990527T=	CA2392434273	COL6A1	c.1002+105T= (n.1002+105T=)
21	g.45990528G>A	CA749831645	COL6A1	c.1002+106G>A (n.1002+106G>A)	dbSNP gnomAD v4
21	g.45990528G>C	CA1022881598	COL6A1	c.1002+106G>C (n.1002+106G>C)	gnomAD v3 gnomAD v4
21	g.45990528G=	CA2392434274	COL6A1	c.1002+106G= (n.1002+106G=)
21	g.45990528G>T	CA2654972575	COL6A1	c.1002+106G>T (n.1002+106G>T)	gnomAD v4
21	g.45990529_45990530insGGAGGG	CA2654972581	COL6A1	c.1002+107_1002+108insGGAGGG (n.1002+107_1002+108insGGAGGG)	gnomAD v4
21	g.45990529del	CA2654972577	COL6A1	c.1002+107del (n.1002+107del)	gnomAD v4
21	g.45990546_45990547insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC	CA2654972579	COL6A1	c.1002+124_1002+125insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGAGGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990546_45990547insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC	CA2654972578	COL6A1	c.1002+124_1002+125insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990532_45990557del	CA1022881597	COL6A1	c.1002+110_1002+135del (n.1002+110_1002+135del)	gnomAD v3 gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA1022881596	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	gnomAD v3 gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972580	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGGGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990531_45990613del	CA2654972576	COL6A1	c.1002+109_1003-160del (n.1002+109_1003-160del)	gnomAD v4
21	g.45990529G>A	CA2654972584	COL6A1	c.1002+107G>A (n.1002+107G>A)	gnomAD v4
21	g.45990529G>C	CA2654972585	COL6A1	c.1002+107G>C (n.1002+107G>C)	gnomAD v4
21	g.45990529G>T	CA2654972586	COL6A1	c.1002+107G>T (n.1002+107G>T)	gnomAD v4
21	g.45990529_45990530del	CA2654972583	COL6A1	c.1002+107_1002+108del (n.1002+107_1002+108del)	gnomAD v4
21	g.45990529_45990531del	CA1022881603	COL6A1	c.1002+107_1002+109del (n.1002+107_1002+109del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990529_45990538del	CA1022881605	COL6A1	c.1002+107_1002+116del (n.1002+107_1002+116del)	gnomAD v3 gnomAD v4
21	g.45990546_45990547insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC	CA2654972582	COL6A1	c.1002+124_1002+125insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGTAGACAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990530A>C	CA1022881609	COL6A1	c.1002+108A>C (n.1002+108A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990530A>G	CA1022881610	COL6A1	c.1002+108A>G (n.1002+108A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990530A>T	CA1022881611	COL6A1	c.1002+108A>T (n.1002+108A>T)	gnomAD v3 gnomAD v4
21	g.45990530_45990532del	CA1022881608	COL6A1	c.1002+108_1002+110del (n.1002+108_1002+110del)	gnomAD v3 gnomAD v4
21	g.45990531_45990532del	CA2654972588	COL6A1	c.1002+109_1002+110del (n.1002+109_1002+110del)	gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA2654972587	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGTACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	gnomAD v4
21	g.45990531C>A	CA1022881612	COL6A1	c.1002+109C>A (n.1002+109C>A)	gnomAD v3 gnomAD v4
21	g.45990531C>G	CA1022881613	COL6A1	c.1002+109C>G (n.1002+109C>G)	gnomAD v3 gnomAD v4
21	g.45990531C>T	CA2654972590	COL6A1	c.1002+109C>T (n.1002+109C>T)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972589	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGCCAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990531_45990532insGG	CA2654972592	COL6A1	c.1002+109_1002+110insGG (n.1002+109_1002+110insGG)	gnomAD v4
21	g.45990531_45990532insGGCG	CA2654972591	COL6A1	c.1002+109_1002+110insGGCG (n.1002+109_1002+110insGGCG)	gnomAD v4
21	g.45990532A=	CA2392434275	COL6A1	c.1002+110A= (n.1002+110A=)
21	g.45990532A>C	CA1022881616	COL6A1	c.1002+110A>C (n.1002+110A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990532A>G	CA1022881614	COL6A1	c.1002+110A>G (n.1002+110A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990532A>T	CA2654972593	COL6A1	c.1002+110A>T (n.1002+110A>T)	gnomAD v4
21	g.45990546_45990547insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC	CA2654972594	COL6A1	c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC (n.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC)	gnomAD v4
21	g.45990532_45990547del	CA2818093091	COL6A1	c.1002+110_1002+125del (n.1002+110_1002+125del)
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA2591412908	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGTGGGATGGGGTGGAGAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	gnomAD v3 gnomAD v4
21	g.45990534_45990585del	CA2818093093	COL6A1	c.1002+112_1002+163del (n.1002+112_1002+163del)
21	g.45990532_45990625delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG	CA2392434276	COL6A1	c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG (n.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG)
21	g.45990533G>A	CA2654972598	COL6A1	c.1002+111G>A (n.1002+111G>A)	gnomAD v4
21	g.45990533G>C	CA2654972597	COL6A1	c.1002+111G>C (n.1002+111G>C)	gnomAD v4
21	g.45990533G>T	CA2654972596	COL6A1	c.1002+111G>T (n.1002+111G>T)	gnomAD v4
21	g.45990536_45990537del	CA2654972600	COL6A1	c.1002+114_1002+115del (n.1002+114_1002+115del)	gnomAD v4
21	g.45990534_45990537del	CA2654972599	COL6A1	c.1002+112_1002+115del (n.1002+112_1002+115del)	gnomAD v4
21	g.45990546_45990547insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC	CA2654972602	COL6A1	c.1002+124_1002+125insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC (n.1002+124_1002+125insCGGGGAGGGATGGGGTGGACTGTGTGAAGGTGACC)	gnomAD v4
21	g.45990534_45990559del	CA2654972601	COL6A1	c.1002+112_1002+137del (n.1002+112_1002+137del)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA1022881620	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGAACGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v3 gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972595	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990547_45990639del	CA1022881622	COL6A1	c.1002+125_1003-134del (n.1002+125_1003-134del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990533_45990534insA	CA1022881627	COL6A1	c.1002+111_1002+112insA (n.1002+111_1002+112insA)	dbSNP gnomAD v3 gnomAD v4
21	g.45990534del	CA1022881628	COL6A1	c.1002+112del (n.1002+112del)	gnomAD v3 gnomAD v4
21	g.45990534T>A	CA1022881632	COL6A1	c.1002+112T>A (n.1002+112T>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990534T>C	CA321964772	COL6A1	c.1002+112T>C (n.1002+112T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990534T>G	CA1022881639	COL6A1	c.1002+112T>G (n.1002+112T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990534T=	CA2392434277	COL6A1	c.1002+112T= (n.1002+112T=)
21	g.45990534_45990544del	CA1022881631	COL6A1	c.1002+112_1002+122del (n.1002+112_1002+122del)	gnomAD v3 gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972603	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACATTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990535del	CA2818093097	COL6A1	c.1002+113del (n.1002+113del)
21	g.45990535G>A	CA2654972606	COL6A1	c.1002+113G>A (n.1002+113G>A)	gnomAD v4
21	g.45990535G>C	CA2654972607	COL6A1	c.1002+113G>C (n.1002+113G>C)	gnomAD v4
21	g.45990535G>T	CA2591412911	COL6A1	c.1002+113G>T (n.1002+113G>T)	gnomAD v3 gnomAD v4
21	g.45990535_45990537del	CA2543072481	COL6A1	c.1002+113_1002+115del (n.1002+113_1002+115del)
21	g.45990543_45990544insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG	CA2654972605	COL6A1	c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG (n.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972604	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990536del	CA2818093099	COL6A1	c.1002+114del (n.1002+114del)
21	g.45990536T>A	CA2591412912	COL6A1	c.1002+114T>A (n.1002+114T>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990536T>C	CA1022881642	COL6A1	c.1002+114T>C (n.1002+114T>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990536T>G	CA1022881648	COL6A1	c.1002+114T>G (n.1002+114T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990536T=	CA2392434278	COL6A1	c.1002+114T= (n.1002+114T=)
21	g.45990537G>A	CA2654972608	COL6A1	c.1002+115G>A (n.1002+115G>A)	gnomAD v4
21	g.45990537G>C	CA1022881653	COL6A1	c.1002+115G>C (n.1002+115G>C)	gnomAD v3 gnomAD v4
21	g.45990537G>T	CA2654972609	COL6A1	c.1002+115G>T (n.1002+115G>T)	gnomAD v4
21	g.45990538A>C	CA1022881656	COL6A1	c.1002+116A>C (n.1002+116A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990538A>G	CA1022881657	COL6A1	c.1002+116A>G (n.1002+116A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990538A>T	CA2654972610	COL6A1	c.1002+116A>T (n.1002+116A>T)	dbSNP gnomAD v4
21	g.45990539A>C	CA1022881661	COL6A1	c.1002+117A>C (n.1002+117A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990539A>G	CA1022881659	COL6A1	c.1002+117A>G (n.1002+117A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990539A>T	CA1022881660	COL6A1	c.1002+117A>T (n.1002+117A>T)	gnomAD v3 gnomAD v4
21	g.45990545_45990589del	CA2654972611	COL6A1	c.1002+123_1002+167del (n.1002+123_1002+167del)	gnomAD v4
21	g.45990539_45990540insCT	CA2818093107	COL6A1	c.1002+117_1002+118insCT (n.1002+117_1002+118insCT)
21	g.45990540G>A	CA2654972614	COL6A1	c.1002+118G>A (n.1002+118G>A)	gnomAD v4
21	g.45990540G>C	CA2654972612	COL6A1	c.1002+118G>C (n.1002+118G>C)	gnomAD v4
21	g.45990540G>T	CA2654972613	COL6A1	c.1002+118G>T (n.1002+118G>T)	gnomAD v4
21	g.45990541dup	CA2654972615	COL6A1	c.1002+119dup (n.1002+119dup)	gnomAD v4
21	g.45990540_45990551del	CA2818093108	COL6A1	c.1002+118_1002+129del (n.1002+118_1002+129del)
21	g.45990541G>A	CA1022881662	COL6A1	c.1002+119G>A (n.1002+119G>A)	gnomAD v3 gnomAD v4
21	g.45990541G>C	CA1022881663	COL6A1	c.1002+119G>C (n.1002+119G>C)	gnomAD v3 gnomAD v4
21	g.45990541G>T	CA2547217961	COL6A1	c.1002+119G>T (n.1002+119G>T)	gnomAD v4
21	g.45990541_45990542insCG	CA2818093109	COL6A1	c.1002+119_1002+120insCG (n.1002+119_1002+120insCG)
21	g.45990541_45990542insC	CA2654972616	COL6A1	c.1002+119_1002+120insC (n.1002+119_1002+120insC)	gnomAD v4
21	g.45990541_45990542insCTGTC	CA2654972617	COL6A1	c.1002+119_1002+120insCTGTC (n.1002+119_1002+120insCTGTC)	gnomAD v4
21	g.45990541_45990542insCTGTCTCTTA	CA2654972618	COL6A1	c.1002+119_1002+120insCTGTCTCTTA (n.1002+119_1002+120insCTGTCTCTTA)	gnomAD v4
21	g.45990542del	CA1022881679	COL6A1	c.1002+120del (n.1002+120del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990542T>A	CA1022881681	COL6A1	c.1002+120T>A (n.1002+120T>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990542T>C	CA1022881683	COL6A1	c.1002+120T>C (n.1002+120T>C)	gnomAD v3 gnomAD v4
21	g.45990542T>G	CA1022881685	COL6A1	c.1002+120T>G (n.1002+120T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990542T=	CA2392434279	COL6A1	c.1002+120T= (n.1002+120T=)
21	g.45990542_45990543insA	CA2654972621	COL6A1	c.1002+120_1002+121insA (n.1002+120_1002+121insA)	gnomAD v4
21	g.45990543G>A	CA2654972619	COL6A1	c.1002+121G>A (n.1002+121G>A)	gnomAD v4
21	g.45990543G>C	CA2654972620	COL6A1	c.1002+121G>C (n.1002+121G>C)	gnomAD v4
21	g.45990543G>T	CA1022881686	COL6A1	c.1002+121G>T (n.1002+121G>T)	gnomAD v3 gnomAD v4
21	g.45990543_45990544insTCTCTT	CA2654972622	COL6A1	c.1002+121_1002+122insTCTCTT (n.1002+121_1002+122insTCTCTT)	gnomAD v4
21	g.45990544A=	CA2392434280	COL6A1	c.1002+122A= (n.1002+122A=)
21	g.45990544A>C	CA2591412918	COL6A1	c.1002+122A>C (n.1002+122A>C)	gnomAD v3 gnomAD v4
21	g.45990544A>G	CA321964785	COL6A1	c.1002+122A>G (n.1002+122A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990544A>T	CA2654972623	COL6A1	c.1002+122A>T (n.1002+122A>T)	gnomAD v4
21	g.45990544_45990545insGC	CA2818093111	COL6A1	c.1002+122_1002+123insGC (n.1002+122_1002+123insGC)
21	g.45990545C>A	CA1022881696	COL6A1	c.1002+123C>A (n.1002+123C>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990545C=	CA2392434283	COL6A1	c.1002+123C= (n.1002+123C=)
21	g.45990545C>G	CA1022881694	COL6A1	c.1002+123C>G (n.1002+123C>G)	gnomAD v3 gnomAD v4
21	g.45990545C>T	CA1022881693	COL6A1	c.1002+123C>T (n.1002+123C>T)	gnomAD v3 gnomAD v4
21	g.45990546del	CA2654972624	COL6A1	c.1002+124del (n.1002+124del)	gnomAD v4
21	g.45990545_45990551del	CA2818093110	COL6A1	c.1002+123_1002+129del (n.1002+123_1002+129del)
21	g.45990545_45990556delinsCCAGGGGAAGGA	CA2392434282	COL6A1	c.1002+123_1002+134delinsCCAGGGGAAGGA (n.1002+123_1002+134delinsCCAGGGGAAGGA)
21	g.45990545_45990566delinsCCAGGGGAAGGACGGGGAGGGA	CA2392434281	COL6A1	c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA (n.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA)
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG	CA1022881700	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGGCCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGG)	dbSNP gnomAD v3 gnomAD v4
21	g.45990552_45990646del	CA1022881704	COL6A1	c.1002+130_1003-127del (n.1002+130_1003-127del)	gnomAD v3 gnomAD v4
21	g.45990546C>A	CA1022881718	COL6A1	c.1002+124C>A (n.1002+124C>A)	gnomAD v3 gnomAD v4
21	g.45990546C=	CA2392434284	COL6A1	c.1002+124C= (n.1002+124C=)
21	g.45990546C>G	CA1022881720	COL6A1	c.1002+124C>G (n.1002+124C>G)	gnomAD v3 gnomAD v4
21	g.45990546C>T	CA2654972625	COL6A1	c.1002+124C>T (n.1002+124C>T)	gnomAD v4
21	g.45990546_45990547del	CA1022881725	COL6A1	c.1002+124_1002+125del (n.1002+124_1002+125del)	gnomAD v3 gnomAD v4
21	g.45990546_45990547delinsCA	CA2392434285	COL6A1	c.1002+124_1002+125delinsCA (n.1002+124_1002+125delinsCA)
21	g.45990546_45990549del	CA1022881708	COL6A1	c.1002+124_1002+127del (n.1002+124_1002+127del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990547_45990557del	CA638178948	COL6A1	c.1002+125_1002+135del (n.1002+125_1002+135del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990547_45990567del	CA638178947	COL6A1	c.1002+125_1002+145del (n.1002+125_1002+145del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990546_45990627del	CA1022881711	COL6A1	c.1002+124_1003-146del (n.1002+124_1003-146del)	gnomAD v3 gnomAD v4
21	g.45990546_45990547insGGGG	CA2654972626	COL6A1	c.1002+124_1002+125insGGGG (n.1002+124_1002+125insGGGG)	gnomAD v4
21	g.45990546_45990547insCGGGG	CA1022881732	COL6A1	c.1002+124_1002+125insCGGGG (n.1002+124_1002+125insCGGGG)	dbSNP gnomAD v3 gnomAD v4
21	g.45990547del	CA321964797	COL6A1	c.1002+125del (n.1002+125del)	dbSNP gnomAD v3 gnomAD v4 COSMIC
21	g.45990547A=	CA2392434286	COL6A1	c.1002+125A= (n.1002+125A=)
21	g.45990547A>C	CA321964804	COL6A1	c.1002+125A>C (n.1002+125A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990547A>G	CA638178950	COL6A1	c.1002+125A>G (n.1002+125A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990547A>T	CA2591412925	COL6A1	c.1002+125A>T (n.1002+125A>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990547_45990556del	CA1022881734	COL6A1	c.1002+125_1002+134del (n.1002+125_1002+134del)	gnomAD v3 gnomAD v4
21	g.45990547_45990557delinsAGGGGAAGGAC	CA2392434287	COL6A1	c.1002+125_1002+135delinsAGGGGAAGGAC (n.1002+125_1002+135delinsAGGGGAAGGAC)
21	g.45990547_45990566del	CA638178949	COL6A1	c.1002+125_1002+144del (n.1002+125_1002+144del)	gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990548G>A	CA1022881743	COL6A1	c.1002+126G>A (n.1002+126G>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990548G>C	CA2654972628	COL6A1	c.1002+126G>C (n.1002+126G>C)	gnomAD v4
21	g.45990548G=	CA2392434289	COL6A1	c.1002+126G= (n.1002+126G=)
21	g.45990548G>T	CA2499715284	COL6A1	c.1002+126G>T (n.1002+126G>T)	gnomAD v4
21	g.45990551del	CA2654972627	COL6A1	c.1002+129del (n.1002+129del)	gnomAD v4
21	g.45990550_45990551del	CA2818093115	COL6A1	c.1002+128_1002+129del (n.1002+128_1002+129del)
21	g.45990553_45990562dup	CA2392434288	COL6A1	c.1002+131_1002+140dup (n.1002+131_1002+140dup)	dbSNP gnomAD v4
21	g.45990553_45990562del	CA1022881758	COL6A1	c.1002+131_1002+140del (n.1002+131_1002+140del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2818093116	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCCGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)
21	g.45990548_45990549insAT	CA2654972629	COL6A1	c.1002+126_1002+127insAT (n.1002+126_1002+127insAT)	gnomAD v4
21	g.45990548_45990549insATC	CA2654972630	COL6A1	c.1002+126_1002+127insATC (n.1002+126_1002+127insATC)	gnomAD v4
21	g.45990549G>A	CA1022881760	COL6A1	c.1002+127G>A (n.1002+127G>A)	gnomAD v3 gnomAD v4
21	g.45990549G>C	CA2392434290	COL6A1	c.1002+127G>C (n.1002+127G>C)	dbSNP gnomAD v4
21	g.45990549G=	CA2392434291	COL6A1	c.1002+127G= (n.1002+127G=)
21	g.45990549G>T	CA1022881761	COL6A1	c.1002+127G>T (n.1002+127G>T)	gnomAD v3 gnomAD v4
21	g.45990549_45990550insATC	CA2654972632	COL6A1	c.1002+127_1002+128insATC (n.1002+127_1002+128insATC)	gnomAD v4
21	g.45990550G>A	CA2654972633	COL6A1	c.1002+128G>A (n.1002+128G>A)	gnomAD v4
21	g.45990550G>C	CA2526343973	COL6A1	c.1002+128G>C (n.1002+128G>C)	gnomAD v4
21	g.45990550G>T	CA1022881762	COL6A1	c.1002+128G>T (n.1002+128G>T)	gnomAD v3 gnomAD v4
21	g.45990550_45990552del	CA2654972631	COL6A1	c.1002+128_1002+130del (n.1002+128_1002+130del)	gnomAD v4
21	g.45990553_45990556del	CA2818093117	COL6A1	c.1002+131_1002+134del (n.1002+131_1002+134del)
21	g.45990550_45990551insATGGGGTGGACAGTGT	CA1022881764	COL6A1	c.1002+128_1002+129insATGGGGTGGACAGTGT (n.1002+128_1002+129insATGGGGTGGACAGTGT)	gnomAD v3 gnomAD v4
21	g.45990551G>A	CA2654972634	COL6A1	c.1002+129G>A (n.1002+129G>A)	gnomAD v4
21	g.45990551G>C	CA2654972635	COL6A1	c.1002+129G>C (n.1002+129G>C)	gnomAD v4
21	g.45990551G>T	CA2591412932	COL6A1	c.1002+129G>T (n.1002+129G>T)	gnomAD v3 gnomAD v4
21	g.45990552A>C	CA1022881774	COL6A1	c.1002+130A>C (n.1002+130A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990552A>G	CA1022881784	COL6A1	c.1002+130A>G (n.1002+130A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990552A>T	CA1022881785	COL6A1	c.1002+130A>T (n.1002+130A>T)	gnomAD v3 gnomAD v4
21	g.45990552_45990556del	CA2654972636	COL6A1	c.1002+130_1002+134del (n.1002+130_1002+134del)	gnomAD v4
21	g.45990552_45990557del	CA1022881772	COL6A1	c.1002+130_1002+135del (n.1002+130_1002+135del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990552_45990553insG	CA1022881789	COL6A1	c.1002+130_1002+131insG (n.1002+130_1002+131insG)	dbSNP gnomAD v3 gnomAD v4
21	g.45990553A=	CA2392434293	COL6A1	c.1002+131A= (n.1002+131A=)
21	g.45990553A>C	CA1022881791	COL6A1	c.1002+131A>C (n.1002+131A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990553A>G	CA638178951	COL6A1	c.1002+131A>G (n.1002+131A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990553A>T	CA749831662	COL6A1	c.1002+131A>T (n.1002+131A>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990553_45990563delinsAGGACGGGGAG	CA2392434292	COL6A1	c.1002+131_1002+141delinsAGGACGGGGAG (n.1002+131_1002+141delinsAGGACGGGGAG)
21	g.45990554G>A	CA1022881802	COL6A1	c.1002+132G>A (n.1002+132G>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990554G=	CA2392434294	COL6A1	c.1002+132G= (n.1002+132G=)
21	g.45990554G>T	CA2654972638	COL6A1	c.1002+132G>T (n.1002+132G>T)	gnomAD v4
21	g.45990554_45990555insATCG	CA2654972639	COL6A1	c.1002+132_1002+133insATCG (n.1002+132_1002+133insATCG)	gnomAD v4
21	g.45990554_45990555del	CA2818093123	COL6A1	c.1002+132_1002+133del (n.1002+132_1002+133del)
21	g.45990567_45990576dup	CA2654972637	COL6A1	c.1002+145_1002+154dup (n.1002+145_1002+154dup)	gnomAD v4
21	g.45990567_45990576del	CA638178952	COL6A1	c.1002+145_1002+154del (n.1002+145_1002+154del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972640	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAGGGACGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990554_45990555insAA	CA2654972641	COL6A1	c.1002+132_1002+133insAA (n.1002+132_1002+133insAA)	gnomAD v4
21	g.45990555G>A	CA2654972644	COL6A1	c.1002+133G>A (n.1002+133G>A)	gnomAD v4
21	g.45990555G>C	CA2654972645	COL6A1	c.1002+133G>C (n.1002+133G>C)	gnomAD v4
21	g.45990555G>T	CA2654972646	COL6A1	c.1002+133G>T (n.1002+133G>T)	gnomAD v4
21	g.45990555_45990556insTG	CA2654972643	COL6A1	c.1002+133_1002+134insTG (n.1002+133_1002+134insTG)	gnomAD v4
21	g.45990555_45990556insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG	CA2654972642	COL6A1	c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG (n.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG)	gnomAD v4
21	g.45990556A=	CA2392434295	COL6A1	c.1002+134A= (n.1002+134A=)
21	g.45990556A>C	CA1022881805	COL6A1	c.1002+134A>C (n.1002+134A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990556A>G	CA1022881808	COL6A1	c.1002+134A>G (n.1002+134A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990556A>T	CA2591412936	COL6A1	c.1002+134A>T (n.1002+134A>T)	gnomAD v3 gnomAD v4
21	g.45990556_45990557insT	CA2654972647	COL6A1	c.1002+134_1002+135insT (n.1002+134_1002+135insT)	gnomAD v4
21	g.45990557C>A	CA1022881810	COL6A1	c.1002+135C>A (n.1002+135C>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990557C=	CA2392434296	COL6A1	c.1002+135C= (n.1002+135C=)
21	g.45990557C>G	CA1022881812	COL6A1	c.1002+135C>G (n.1002+135C>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990557C>T	CA749831671	COL6A1	c.1002+135C>T (n.1002+135C>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990558G>A	CA638178953	COL6A1	c.1002+136G>A (n.1002+136G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990558G>C	CA2654972651	COL6A1	c.1002+136G>C (n.1002+136G>C)	gnomAD v4
21	g.45990558G=	CA2392434297	COL6A1	c.1002+136G= (n.1002+136G=)
21	g.45990558G>T	CA2654972650	COL6A1	c.1002+136G>T (n.1002+136G>T)	gnomAD v4
21	g.45990559_45990561del	CA2818093127	COL6A1	c.1002+137_1002+139del (n.1002+137_1002+139del)
21	g.45990561_45990571del	CA2654972652	COL6A1	c.1002+139_1002+149del (n.1002+139_1002+149del)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972648	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG	CA2654972649	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG (n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGTGAG)	gnomAD v4
21	g.45990559G>A	CA1022881824	COL6A1	c.1002+137G>A (n.1002+137G>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990559G>C	CA2654972654	COL6A1	c.1002+137G>C (n.1002+137G>C)	gnomAD v4
21	g.45990559G=	CA2392434298	COL6A1	c.1002+137G= (n.1002+137G=)
21	g.45990559G>T	CA1022881827	COL6A1	c.1002+137G>T (n.1002+137G>T)	gnomAD v3 gnomAD v4
21	g.45990559_45990596del	CA1022881821	COL6A1	c.1002+137_1002+174del (n.1002+137_1002+174del)	gnomAD v3 gnomAD v4
21	g.45990565_45990612del	CA2654972653	COL6A1	c.1002+143_1003-161del (n.1002+143_1003-161del)	gnomAD v4
21	g.45990559_45990560insA	CA2654972655	COL6A1	c.1002+137_1002+138insA (n.1002+137_1002+138insA)	gnomAD v4
21	g.45990559_45990560insATC	CA2654972656	COL6A1	c.1002+137_1002+138insATC (n.1002+137_1002+138insATC)	gnomAD v4
21	g.45990559_45990560insCGT	CA1022881829	COL6A1	c.1002+137_1002+138insCGT (n.1002+137_1002+138insCGT)	dbSNP gnomAD v3 gnomAD v4
21	g.45990559_45990560insTCTC	CA2818093129	COL6A1	c.1002+137_1002+138insTCTC (n.1002+137_1002+138insTCTC)
21	g.45990560G>A	CA2654972657	COL6A1	c.1002+138G>A (n.1002+138G>A)	gnomAD v4
21	g.45990560G>C	CA1022881832	COL6A1	c.1002+138G>C (n.1002+138G>C)	gnomAD v3 gnomAD v4
21	g.45990560G>T	CA2654972658	COL6A1	c.1002+138G>T (n.1002+138G>T)	gnomAD v4
21	g.45990568_45990605dup	CA1022881830	COL6A1	c.1002+146_1003-168dup (n.1002+146_1003-168dup)	dbSNP gnomAD v3 gnomAD v4
21	g.45990568_45990605del	CA1022881831	COL6A1	c.1002+146_1003-168del (n.1002+146_1003-168del)	gnomAD v3 gnomAD v4
21	g.45990561G>A	CA1022881833	COL6A1	c.1002+139G>A (n.1002+139G>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990561G>C	CA2654972659	COL6A1	c.1002+139G>C (n.1002+139G>C)	gnomAD v4
21	g.45990561G=	CA2392434299	COL6A1	c.1002+139G= (n.1002+139G=)
21	g.45990561G>T	CA2392434300	COL6A1	c.1002+139G>T (n.1002+139G>T)	dbSNP gnomAD v4
21	g.45990562del	CA1022881834	COL6A1	c.1002+140del (n.1002+140del)	gnomAD v3 gnomAD v4
21	g.45990562A=	CA2392434301	COL6A1	c.1002+140A= (n.1002+140A=)
21	g.45990562A>C	CA1022881835	COL6A1	c.1002+140A>C (n.1002+140A>C)	gnomAD v3 gnomAD v4
21	g.45990562A>G	CA1022881837	COL6A1	c.1002+140A>G (n.1002+140A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990562A>T	CA2654972660	COL6A1	c.1002+140A>T (n.1002+140A>T)	gnomAD v4
21	g.45990562_45990563insTC	CA2818093132	COL6A1	c.1002+140_1002+141insTC (n.1002+140_1002+141insTC)
21	g.45990563G>A	CA321964806	COL6A1	c.1002+141G>A (n.1002+141G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990563G=	CA2392434302	COL6A1	c.1002+141G= (n.1002+141G=)
21	g.45990563G>T	CA1022881842	COL6A1	c.1002+141G>T (n.1002+141G>T)	gnomAD v3 gnomAD v4
21	g.45990563_45990565del	CA2818093133	COL6A1	c.1002+141_1002+143del (n.1002+141_1002+143del)
21	g.45990564_45990565del	CA2654972661	COL6A1	c.1002+142_1002+143del (n.1002+142_1002+143del)	gnomAD v4
21	g.45990564_45990583del	CA2654972662	COL6A1	c.1002+142_1002+161del (n.1002+142_1002+161del)	gnomAD v4
21	g.45990564G>A	CA2654972666	COL6A1	c.1002+142G>A (n.1002+142G>A)	gnomAD v4
21	g.45990564G>T	CA2654972663	COL6A1	c.1002+142G>T (n.1002+142G>T)	gnomAD v4
21	g.45990566_45990567insTGGGGAGGGATGGGGTGGA	CA2591412946	COL6A1	c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA (n.1002+144_1002+145insTGGGGAGGGATGGGGTGGA)	gnomAD v3 gnomAD v4
21	g.45990567_45990613del	CA2654972665	COL6A1	c.1002+145_1003-160del (n.1002+145_1003-160del)	gnomAD v4
21	g.45990570_45990626del	CA2654972664	COL6A1	c.1002+148_1003-147del (n.1002+148_1003-147del)	gnomAD v4
21	g.45990564_45990565insT	CA1022881848	COL6A1	c.1002+142_1002+143insT (n.1002+142_1002+143insT)	dbSNP gnomAD v3 gnomAD v4
21	g.45990564_45990565insAATGGGGCGA	CA2654972667	COL6A1	c.1002+142_1002+143insAATGGGGCGA (n.1002+142_1002+143insAATGGGGCGA)	gnomAD v4
21	g.45990565G>A	CA638178954	COL6A1	c.1002+143G>A (n.1002+143G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990565G=	CA2392434303	COL6A1	c.1002+143G= (n.1002+143G=)
21	g.45990565G>T	CA1022881849	COL6A1	c.1002+143G>T (n.1002+143G>T)	gnomAD v3 gnomAD v4
21	g.45990566_45990585del	CA2654972668	COL6A1	c.1002+144_1002+163del (n.1002+144_1002+163del)	gnomAD v4
21	g.45990566A=	CA2392434304	COL6A1	c.1002+144A= (n.1002+144A=)
21	g.45990566A>C	CA1022881851	COL6A1	c.1002+144A>C (n.1002+144A>C)	gnomAD v3 gnomAD v4
21	g.45990566A>G	CA1022881852	COL6A1	c.1002+144A>G (n.1002+144A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990566A>T	CA1022881853	COL6A1	c.1002+144A>T (n.1002+144A>T)	gnomAD v3 gnomAD v4
21	g.45990567C>A	CA2654972669	COL6A1	c.1002+145C>A (n.1002+145C>A)	gnomAD v4
21	g.45990567C=	CA2392434305	COL6A1	c.1002+145C= (n.1002+145C=)
21	g.45990567C>G	CA749831682	COL6A1	c.1002+145C>G (n.1002+145C>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990567C>T	CA15984378	COL6A1	c.1002+145C>T (n.1002+145C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990567_45990568insCC	CA1022881856	COL6A1	c.1002+145_1002+146insCC (n.1002+145_1002+146insCC)	dbSNP gnomAD v3 gnomAD v4
21	g.45990567_45990574del	CA2654972671	COL6A1	c.1002+145_1002+152del (n.1002+145_1002+152del)	gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG	CA1022881855	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG)	dbSNP gnomAD v3 gnomAD v4
21	g.45990567_45990586del	CA2654972670	COL6A1	c.1002+145_1002+164del (n.1002+145_1002+164del)	gnomAD v4
21	g.45990567_45990614del	CA1022881854	COL6A1	c.1002+145_1003-159del (n.1002+145_1003-159del)	gnomAD v3 gnomAD v4
21	g.45990567_45990568insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	CA2591412947	COL6A1	c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT (n.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT)	gnomAD v3 gnomAD v4
21	g.45990567_45990568insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	CA1022881860	COL6A1	c.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT (n.1002+145_1002+146insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT)	gnomAD v3 gnomAD v4
21	g.45990568G>A	CA638178956	COL6A1	c.1002+146G>A (n.1002+146G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990568G>C	CA2392434307	COL6A1	c.1002+146G>C (n.1002+146G>C)	dbSNP gnomAD v4
21	g.45990568G=	CA2392434306	COL6A1	c.1002+146G= (n.1002+146G=)
21	g.45990568G>T	CA2654972672	COL6A1	c.1002+146G>T (n.1002+146G>T)	gnomAD v4
21	g.45990571del	CA2654972677	COL6A1	c.1002+149del (n.1002+149del)	gnomAD v4
21	g.45990570_45990571del	CA2654972676	COL6A1	c.1002+148_1002+149del (n.1002+148_1002+149del)	gnomAD v4
21	g.45990568_45990576del	CA2654972675	COL6A1	c.1002+146_1002+154del (n.1002+146_1002+154del)	gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGATGGGG	CA2654972679	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGATGGGG)	gnomAD v4
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG	CA2654972678	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGG)	gnomAD v4
21	g.45990572_45990581dup	CA638178955	COL6A1	c.1002+150_1002+159dup (n.1002+150_1002+159dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990572_45990581del	CA2654972674	COL6A1	c.1002+150_1002+159del (n.1002+150_1002+159del)	gnomAD v4
21	g.45990583_45990584insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG	CA2654972673	COL6A1	c.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG (n.1002+161_1002+162insGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGGGGAGGGATGGGGTG)	gnomAD v4
21	g.45990569G>A	CA638178957	COL6A1	c.1002+147G>A (n.1002+147G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990569G>C	CA2654972681	COL6A1	c.1002+147G>C (n.1002+147G>C)	gnomAD v4
21	g.45990569G=	CA2392434308	COL6A1	c.1002+147G= (n.1002+147G=)
21	g.45990569G>T	CA2654972682	COL6A1	c.1002+147G>T (n.1002+147G>T)	gnomAD v4
21	g.45990575_45990612del	CA2654972680	COL6A1	c.1002+153_1003-161del (n.1002+153_1003-161del)	gnomAD v4
21	g.45990570G>A	CA1022881863	COL6A1	c.1002+148G>A (n.1002+148G>A)	gnomAD v3 gnomAD v4
21	g.45990570G>T	CA2654972683	COL6A1	c.1002+148G>T (n.1002+148G>T)	gnomAD v4
21	g.45990571G>A	CA2654972684	COL6A1	c.1002+149G>A (n.1002+149G>A)	gnomAD v4
21	g.45990571G>T	CA2654972685	COL6A1	c.1002+149G>T (n.1002+149G>T)	gnomAD v4
21	g.45990572A=	CA2392434309	COL6A1	c.1002+150A= (n.1002+150A=)
21	g.45990572A>C	CA638178958	COL6A1	c.1002+150A>C (n.1002+150A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990572A>G	CA749831697	COL6A1	c.1002+150A>G (n.1002+150A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990572A>T	CA1022881871	COL6A1	c.1002+150A>T (n.1002+150A>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990573G>A	CA2654972687	COL6A1	c.1002+151G>A (n.1002+151G>A)	gnomAD v4
21	g.45990573G>C	CA2818093134	COL6A1	c.1002+151G>C (n.1002+151G>C)
21	g.45990573G>T	CA2654972688	COL6A1	c.1002+151G>T (n.1002+151G>T)	gnomAD v4
21	g.45990574_45990619del	CA2654972686	COL6A1	c.1002+152_1003-154del (n.1002+152_1003-154del)	gnomAD v4
21	g.45990574G>A	CA638178959	COL6A1	c.1002+152G>A (n.1002+152G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990574G=	CA2392434310	COL6A1	c.1002+152G= (n.1002+152G=)
21	g.45990574G>T	CA2654972689	COL6A1	c.1002+152G>T (n.1002+152G>T)	gnomAD v4
21	g.45990575G>A	CA638178960	COL6A1	c.1002+153G>A (n.1002+153G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990575G>C	CA1022881872	COL6A1	c.1002+153G>C (n.1002+153G>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990575G=	CA2392434311	COL6A1	c.1002+153G= (n.1002+153G=)
21	g.45990575G>T	CA749831708	COL6A1	c.1002+153G>T (n.1002+153G>T)	dbSNP gnomAD v3 gnomAD v4
21	g.45990576A>C	CA1022881874	COL6A1	c.1002+154A>C (n.1002+154A>C)	gnomAD v3 gnomAD v4
21	g.45990576A>G	CA1022881875	COL6A1	c.1002+154A>G (n.1002+154A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990577T>A	CA1022881877	COL6A1	c.1002+155T>A (n.1002+155T>A)	gnomAD v3 gnomAD v4
21	g.45990577T>G	CA1022881876	COL6A1	c.1002+155T>G (n.1002+155T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990577T=	CA2392434312	COL6A1	c.1002+155T= (n.1002+155T=)
21	g.45990579G>A	CA2392434314	COL6A1	c.1002+157G>A (n.1002+157G>A)	dbSNP
21	g.45990579G=	CA2392434313	COL6A1	c.1002+157G= (n.1002+157G=)
21	g.45990579G>T	CA321964811	COL6A1	c.1002+157G>T (n.1002+157G>T)	dbSNP
21	g.45990580G>A	CA2818093135	COL6A1	c.1002+158G>A (n.1002+158G>A)
21	g.45990580G>C	CA1022881884	COL6A1	c.1002+158G>C (n.1002+158G>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990580G=	CA2392434315	COL6A1	c.1002+158G= (n.1002+158G=)
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGTGG	CA2832399486	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGTGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGTGG)
21	g.45990581_45990582insCGAGATGGGGAGGGACGGAGGGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGAGG	CA1022881879	COL6A1	c.1002+159_1002+160insCGAGATGGGGAGGGACGGAGGGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGAGG (n.1002+159_1002+160insCGAGATGGGGAGGGACGGAGGGGACGGCGTGAAGGTGACCCGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGAGG)	gnomAD v3 gnomAD v4
21	g.45990581_45990583del	CA1022881882	COL6A1	c.1002+159_1002+161del (n.1002+159_1002+161del)	gnomAD v3 gnomAD v4
21	g.45990582_45990599del	CA1022881883	COL6A1	c.1002+160_1003-174del (n.1002+160_1003-174del)	gnomAD v3 gnomAD v4
21	g.45990581G>A	CA321964820	COL6A1	c.1002+159G>A (n.1002+159G>A)	dbSNP
21	g.45990581G=	CA2392434316	COL6A1	c.1002+159G= (n.1002+159G=)
21	g.45990581G>T	CA638178961	COL6A1	c.1002+159G>T (n.1002+159G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990582T>A	CA1022881889	COL6A1	c.1002+160T>A (n.1002+160T>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990582T>C	CA321964822	COL6A1	c.1002+160T>C (n.1002+160T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990582T>G	CA749831724	COL6A1	c.1002+160T>G (n.1002+160T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990582T=	CA2392434317	COL6A1	c.1002+160T= (n.1002+160T=)
21	g.45990582_45990584del	CA1022881888	COL6A1	c.1002+160_1002+162del (n.1002+160_1002+162del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990583G>A	CA321964826	COL6A1	c.1002+161G>A (n.1002+161G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990583G=	CA2392434318	COL6A1	c.1002+161G= (n.1002+161G=)
21	g.45990584_45990602del	CA1022881892	COL6A1	c.1002+162_1003-171del (n.1002+162_1003-171del)	dbSNP gnomAD v3 gnomAD v4
21	g.45990584A=	CA2392434320	COL6A1	c.1002+162A= (n.1002+162A=)
21	g.45990584A>C	CA1022881895	COL6A1	c.1002+162A>C (n.1002+162A>C)	gnomAD v3 gnomAD v4
21	g.45990584A>G	CA1022881894	COL6A1	c.1002+162A>G (n.1002+162A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990584_45990587delinsAGGT	CA2392434319	COL6A1	c.1002+162_1002+165delinsAGGT (n.1002+162_1002+165delinsAGGT)
21	g.45990585G>A	CA2392434321	COL6A1	c.1002+163G>A (n.1002+163G>A)	dbSNP
21	g.45990585G>C	CA749831734	COL6A1	c.1002+163G>C (n.1002+163G>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990585G=	CA2392434322	COL6A1	c.1002+163G= (n.1002+163G=)
21	g.45990585_45990586insATG	CA1022881898	COL6A1	c.1002+163_1002+164insATG (n.1002+163_1002+164insATG)	dbSNP gnomAD v3 gnomAD v4
21	g.45990586_45990588del	CA638178962	COL6A1	c.1002+164_1002+166del (n.1002+164_1002+166del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990586_45990599del	CA1022881900	COL6A1	c.1002+164_1003-174del (n.1002+164_1003-174del)	gnomAD v3 gnomAD v4
21	g.45990585_45990586insATGGGGAGGGACGGA	CA2741701882	COL6A1	c.1002+163_1002+164insATGGGGAGGGACGGA (n.1002+163_1002+164insATGGGGAGGGACGGA)
21	g.45990586G>A	CA321964832	COL6A1	c.1002+164G>A (n.1002+164G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990586G=	CA2392434323	COL6A1	c.1002+164G= (n.1002+164G=)
21	g.45990586_45990596del	CA1022881901	COL6A1	c.1002+164_1002+174del (n.1002+164_1002+174del)	gnomAD v3 gnomAD v4
21	g.45990587T>A	CA1022881903	COL6A1	c.1002+165T>A (n.1002+165T>A)	gnomAD v3 gnomAD v4
21	g.45990587T>G	CA657675845	COL6A1	c.1002+165T>G (n.1002+165T>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990587T=	CA2392434324	COL6A1	c.1002+165T= (n.1002+165T=)
21	g.45990588_45990589insGGG	CA1022881904	COL6A1	c.1002+166_1002+167insGGG (n.1002+166_1002+167insGGG)	dbSNP gnomAD v3 gnomAD v4
21	g.45990588_45990593delinsGATCCC	CA2392434327	COL6A1	c.1002+166_1002+171delinsGATCCC (n.1002+166_1002+171delinsGATCCC)
21	g.45990588_45990596delinsGATCCCGGC	CA2392434325	COL6A1	c.1002+166_1002+174delinsGATCCCGGC (n.1002+166_1002+174delinsGATCCCGGC)
21	g.45990588_45990600delinsGATCCCGGCAGGA	CA2392434326	COL6A1	c.1002+166_1003-173delinsGATCCCGGCAGGA (n.1002+166_1003-173delinsGATCCCGGCAGGA)
21	g.45990589A=	CA2392434329	COL6A1	c.1002+167A= (n.1002+167A=)
21	g.45990589A>G	CA1022881907	COL6A1	c.1002+167A>G (n.1002+167A>G)	dbSNP gnomAD v3 gnomAD v4
21	g.45990589A>T	CA2591412962	COL6A1	c.1002+167A>T (n.1002+167A>T)	gnomAD v3 gnomAD v4
21	g.45990589_45990592del	CA1022881905	COL6A1	c.1002+167_1002+170del (n.1002+167_1002+170del)	gnomAD v3 gnomAD v4
21	g.45990589_45990593del	CA638178964	COL6A1	c.1002+167_1002+171del (n.1002+167_1002+171del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990590_45990597del	CA2392434328	COL6A1	c.1002+168_1003-176del (n.1002+168_1003-176del)	dbSNP
21	g.45990589_45990600del	CA638178963	COL6A1	c.1002+167_1003-173del (n.1002+167_1003-173del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990589_45990615del	CA1022881906	COL6A1	c.1002+167_1003-158del (n.1002+167_1003-158del)	gnomAD v3 gnomAD v4
21	g.45990590T>G	CA1022881911	COL6A1	c.1002+168T>G (n.1002+168T>G)	gnomAD v3 gnomAD v4
21	g.45990590_45990592del	CA1022881909	COL6A1	c.1002+168_1002+170del (n.1002+168_1002+170del)	gnomAD v3 gnomAD v4
21	g.45990590_45990593delinsTCCC	CA2392434330	COL6A1	c.1002+168_1002+171delinsTCCC (n.1002+168_1002+171delinsTCCC)
21	g.45990591C=	CA2392434332	COL6A1	c.1002+169C= (n.1002+169C=)
21	g.45990591C>G	CA1022881913	COL6A1	c.1002+169C>G (n.1002+169C>G)	gnomAD v3 gnomAD v4
21	g.45990591C>T	CA2392434331	COL6A1	c.1002+169C>T (n.1002+169C>T)	dbSNP
21	g.45990591_45990593del	CA638178965	COL6A1	c.1002+169_1002+171del (n.1002+169_1002+171del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990592C>A	CA2591412964	COL6A1	c.1002+170C>A (n.1002+170C>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990593C=	CA2392434333	COL6A1	c.1002+171C= (n.1002+171C=)
21	g.45990593C>G	CA1022881915	COL6A1	c.1002+171C>G (n.1002+171C>G)	gnomAD v3 gnomAD v4
21	g.45990593C>T	CA321964836	COL6A1	c.1002+171C>T (n.1002+171C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990594G>A	CA512713694	COL6A1	c.1002+172G>A (n.1002+172G>A)	dbSNP gnomAD v3 gnomAD v4
21	g.45990594G=	CA2392434334	COL6A1	c.1002+172G= (n.1002+172G=)
21	g.45990595G>A	CA2737649729	COL6A1	c.1002+173G>A (n.1002+173G>A)	dbSNP
21	g.45990595_45990597delinsGCA	CA2392434335	COL6A1	c.1002+173_1003-176delinsGCA (n.1002+173_1003-176delinsGCA)
21	g.45990596_45990598del	CA1022881917	COL6A1	c.1002+174_1003-175del (n.1002+174_1003-175del)	gnomAD v3 gnomAD v4
21	g.45990596C=	CA2392434336	COL6A1	c.1002+174C= (n.1002+174C=)
21	g.45990596C>G	CA638178967	COL6A1	c.1002+174C>G (n.1002+174C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990596C>T	CA2818093138	COL6A1	c.1002+174C>T (n.1002+174C>T)
21	g.45990596_45990597del	CA638178966	COL6A1	c.1002+174_1003-176del (n.1002+174_1003-176del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21	g.45990597A=	CA2392434337	COL6A1	c.1003-176A= (n.1003-176A=)
21	g.45990597A>C	CA749831762	COL6A1	c.1003-176A>C (n.1003-176A>C)	dbSNP gnomAD v3 gnomAD v4
21	g.45990597A>G	CA2392434338	COL6A1	c.1003-176A>G (n.1003-176A>G)	dbSNP
21	g.45990597A>T	CA2392434339	COL6A1	c.1003-176A>T (n.1003-176A>T)	dbSNP
21	g.45990599G>A	CA2392434341	COL6A1	c.1003-174G>A (n.1003-174G>A)	dbSNP
21	g.45990599G=	CA2392434340	COL6A1	c.1003-174G= (n.1003-174G=)

Number of alleles fetched