Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.189000730_189007456del	CA913190215	COL3A1	c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del	ClinVar
2	g.189001289_189008107del	CA913190216	COL3A1	c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del	ClinVar
2	g.189001505_189006012del	CA913189729	COL3A1	c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del	ClinVar
2	g.189002994_189003021delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC	CA1315402526	COL3A1	c.2386_2413delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC (p.Ala796=) c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC (p.Ala829=)
2	g.189002999_189003025del	CA005416	COL3A1	c.2391_2417del (p.Gly798_Pro806del) c.2490_2516del (p.Gly831_Pro839del)	ClinVar dbSNP
2	g.189002996T>A	CA430311337	COL3A1	c.2388T>A (p.Ala796=) c.2487T>A (p.Ala829=)	dbSNP
2	g.189002996T>C	CA430311335	COL3A1	c.2388T>C (p.Ala796=) c.2487T>C (p.Ala829=)	gnomAD v4
2	g.189002996T>G	CA430311336	COL3A1	c.2388T>G (p.Ala796=) c.2487T>G (p.Ala829=)
2	g.189002996T=	CA1315402529	COL3A1	c.2388T= (p.Ala796=) c.2487T= (p.Ala829=)
2	g.189002997C>A	CA349842784	COL3A1	c.2389C>A (p.Pro797Thr) c.2488C>A (p.Pro830Thr)	gnomAD v4
2	g.189002997C=	CA1315402530	COL3A1	c.2389C= (p.Pro797=) c.2488C= (p.Pro830=)
2	g.189002997C>G	CA349842782	COL3A1	c.2389C>G (p.Pro797Ala) c.2488C>G (p.Pro830Ala)	gnomAD v4
2	g.189002997C>T	CA349842783	COL3A1	c.2389C>T (p.Pro797Ser) c.2488C>T (p.Pro830Ser)	dbSNP gnomAD v4
2	g.189002998del	CA2662309701	COL3A1	c.2390del (p.Pro797ArgfsTer?) c.2489del (p.Pro830ArgfsTer?)	gnomAD v4
2	g.189002998C>A	CA349842785	COL3A1	c.2390C>A (p.Pro797Gln) c.2489C>A (p.Pro830Gln)	gnomAD v4
2	g.189002998C=	CA1315402531	COL3A1	c.2390C= (p.Pro797=) c.2489C= (p.Pro830=)
2	g.189002998C>G	CA349842786	COL3A1	c.2390C>G (p.Pro797Arg) c.2489C>G (p.Pro830Arg)	ClinVar gnomAD v4
2	g.189002998C>T	CA10587532	COL3A1	c.2390C>T (p.Pro797Leu) c.2489C>T (p.Pro830Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189002999G>A	CA075363	COL3A1	c.2391G>A (p.Pro797=) c.2490G>A (p.Pro830=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.189002999G>C	CA16604063	COL3A1	c.2391G>C (p.Pro797=) c.2490G>C (p.Pro830=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189002999G=	CA1315402532	COL3A1	c.2391G= (p.Pro797=) c.2490G= (p.Pro830=)
2	g.189002999G>T	CA430311344	COL3A1	c.2391G>T (p.Pro797=) c.2490G>T (p.Pro830=)	gnomAD v4
2	g.189003001del	CA2662309702	COL3A1	c.2393del (p.Gly798ValfsTer?) c.2492del (p.Gly831ValfsTer?)	gnomAD v4
2	g.189003000G>A	CA349842787	COL3A1	c.2392G>A (p.Gly798Ser) c.2491G>A (p.Gly831Ser)	gnomAD v4
2	g.189003000G>C	CA349842788	COL3A1	c.2392G>C (p.Gly798Arg) c.2491G>C (p.Gly831Arg)	ClinVar dbSNP
2	g.189003000G>T	CA349842789	COL3A1	c.2392G>T (p.Gly798Cys) c.2491G>T (p.Gly831Cys)	gnomAD v4
2	g.189003001G>A	CA349842790	COL3A1	c.2393G>A (p.Gly798Asp) c.2492G>A (p.Gly831Asp)	gnomAD v4
2	g.189003001G>C	CA349842791	COL3A1	c.2393G>C (p.Gly798Ala) c.2492G>C (p.Gly831Ala)
2	g.189003001G>T	CA349842792	COL3A1	c.2393G>T (p.Gly798Val) c.2492G>T (p.Gly831Val)
2	g.189003002T>A	CA430311345	COL3A1	c.2394T>A (p.Gly798=) c.2493T>A (p.Gly831=)
2	g.189003002T>C	CA075366	COL3A1	c.2394T>C (p.Gly798=) c.2493T>C (p.Gly831=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003002T>G	CA430311346	COL3A1	c.2394T>G (p.Gly798=) c.2493T>G (p.Gly831=)
2	g.189003002T=	CA1315402533	COL3A1	c.2394T= (p.Gly798=) c.2493T= (p.Gly831=)
2	g.189003003G>A	CA349842793	COL3A1	c.2395G>A (p.Glu799Lys) c.2494G>A (p.Glu832Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.189003003G>C	CA349842795	COL3A1	c.2395G>C (p.Glu799Gln) c.2494G>C (p.Glu832Gln)
2	g.189003003G=	CA1315402534	COL3A1	c.2395G= (p.Glu799=) c.2494G= (p.Glu832=)
2	g.189003003G>T	CA349842794	COL3A1	c.2395G>T (p.Glu799Ter) c.2494G>T (p.Glu832Ter)	ClinVar dbSNP gnomAD v4
2	g.189003004A>C	CA349842796	COL3A1	c.2396A>C (p.Glu799Ala) c.2495A>C (p.Glu832Ala)
2	g.189003004A>G	CA349842797	COL3A1	c.2396A>G (p.Glu799Gly) c.2495A>G (p.Glu832Gly)
2	g.189003004A>T	CA349842798	COL3A1	c.2396A>T (p.Glu799Val) c.2495A>T (p.Glu832Val)
2	g.189003005G>A	CA430311347	COL3A1	c.2397G>A (p.Glu799=) c.2496G>A (p.Glu832=)
2	g.189003005G>C	CA349842799	COL3A1	c.2397G>C (p.Glu799Asp) c.2496G>C (p.Glu832Asp)
2	g.189003005G>T	CA349842800	COL3A1	c.2397G>T (p.Glu799Asp) c.2496G>T (p.Glu832Asp)	gnomAD v4 COSMIC COSMIC
2	g.189003006A>C	CA349842801	COL3A1	c.2398A>C (p.Lys800Gln) c.2497A>C (p.Lys833Gln)
2	g.189003006A>G	CA077826	COL3A1	c.2398A>G (p.Lys800Glu) c.2497A>G (p.Lys833Glu)	gnomAD v4
2	g.189003006A>T	CA349842802	COL3A1	c.2398A>T (p.Lys800Ter) c.2497A>T (p.Lys833Ter)
2	g.189003008dup	CA077825	COL3A1	c.2400dup (p.Gly801ArgfsTer2) c.2499dup (p.Gly834ArgfsTer2)
2	g.189003007A=	CA1315402535	COL3A1	c.2399A= (p.Lys800=) c.2498A= (p.Lys833=)
2	g.189003007A>C	CA349842803	COL3A1	c.2399A>C (p.Lys800Thr) c.2498A>C (p.Lys833Thr)
2	g.189003007A>G	CA005427	COL3A1	c.2399A>G (p.Lys800Arg) c.2498A>G (p.Lys833Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003007A>T	CA349842804	COL3A1	c.2399A>T (p.Lys800Ile) c.2498A>T (p.Lys833Ile)
2	g.189003008A=	CA1315402536	COL3A1	c.2400A= (p.Lys800=) c.2499A= (p.Lys833=)
2	g.189003008A>C	CA349842805	COL3A1	c.2400A>C (p.Lys800Asn) c.2499A>C (p.Lys833Asn)
2	g.189003008A>G	CA430311349	COL3A1	c.2400A>G (p.Lys800=) c.2499A>G (p.Lys833=)	ClinVar gnomAD v4
2	g.189003008A>T	CA349842806	COL3A1	c.2400A>T (p.Lys800Asn) c.2499A>T (p.Lys833Asn)	ClinVar dbSNP
2	g.189003009G>A	CA349842809	COL3A1	c.2401G>A (p.Gly801Ser) c.2500G>A (p.Gly834Ser)	ClinVar
2	g.189003009G>C	CA349842808	COL3A1	c.2401G>C (p.Gly801Arg) c.2500G>C (p.Gly834Arg)	ClinVar dbSNP
2	g.189003009G>T	CA349842807	COL3A1	c.2401G>T (p.Gly801Cys) c.2500G>T (p.Gly834Cys)	gnomAD v4
2	g.189003010G>A	CA005435	COL3A1	c.2402G>A (p.Gly801Asp) c.2501G>A (p.Gly834Asp)	ClinVar dbSNP
2	g.189003010G>C	CA349842810	COL3A1	c.2402G>C (p.Gly801Ala) c.2501G>C (p.Gly834Ala)	ClinVar dbSNP
2	g.189003010G=	CA1315402537	COL3A1	c.2402G= (p.Gly801=) c.2501G= (p.Gly834=)
2	g.189003010G>T	CA349842811	COL3A1	c.2402G>T (p.Gly801Val) c.2501G>T (p.Gly834Val)
2	g.189003011T>A	CA430311353	COL3A1	c.2403T>A (p.Gly801=) c.2502T>A (p.Gly834=)
2	g.189003011T>C	CA430311354	COL3A1	c.2403T>C (p.Gly801=) c.2502T>C (p.Gly834=)
2	g.189003011T>G	CA430311355	COL3A1	c.2403T>G (p.Gly801=) c.2502T>G (p.Gly834=)
2	g.189003012G>A	CA349842812	COL3A1	c.2404G>A (p.Glu802Lys) c.2503G>A (p.Glu835Lys)
2	g.189003012G>C	CA349842813	COL3A1	c.2404G>C (p.Glu802Gln) c.2503G>C (p.Glu835Gln)
2	g.189003012G>T	CA349842814	COL3A1	c.2404G>T (p.Glu802Ter) c.2503G>T (p.Glu835Ter)
2	g.189003013A>C	CA349842815	COL3A1	c.2405A>C (p.Glu802Ala) c.2504A>C (p.Glu835Ala)
2	g.189003013A>G	CA349842816	COL3A1	c.2405A>G (p.Glu802Gly) c.2504A>G (p.Glu835Gly)	gnomAD v4
2	g.189003013A>T	CA349842817	COL3A1	c.2405A>T (p.Glu802Val) c.2504A>T (p.Glu835Val)
2	g.189003014A=	CA1315402538	COL3A1	c.2406A= (p.Glu802=) c.2505A= (p.Glu835=)
2	g.189003014A>C	CA349842818	COL3A1	c.2406A>C (p.Glu802Asp) c.2505A>C (p.Glu835Asp)
2	g.189003014A>G	CA077678	COL3A1	c.2406A>G (p.Glu802=) c.2505A>G (p.Glu835=)	dbSNP gnomAD v2 gnomAD v4
2	g.189003014A>T	CA349842819	COL3A1	c.2406A>T (p.Glu802Asp) c.2505A>T (p.Glu835Asp)
2	g.189003015G>A	CA077675	COL3A1	c.2407G>A (p.Gly803Arg) c.2506G>A (p.Gly836Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.189003015G>C	CA349842820	COL3A1	c.2407G>C (p.Gly803Arg) c.2506G>C (p.Gly836Arg)
2	g.189003015G=	CA1315402539	COL3A1	c.2407G= (p.Gly803=) c.2506G= (p.Gly836=)
2	g.189003015G>T	CA349842821	COL3A1	c.2407G>T (p.Gly803Ter) c.2506G>T (p.Gly836Ter)
2	g.189003016G>A	CA349842823	COL3A1	c.2408G>A (p.Gly803Glu) c.2507G>A (p.Gly836Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.189003016G>C	CA349842824	COL3A1	c.2408G>C (p.Gly803Ala) c.2507G>C (p.Gly836Ala)
2	g.189003016G=	CA1315402540	COL3A1	c.2408G= (p.Gly803=) c.2507G= (p.Gly836=)
2	g.189003016G>T	CA349842822	COL3A1	c.2408G>T (p.Gly803Val) c.2507G>T (p.Gly836Val)
2	g.189003017A=	CA1315402541	COL3A1	c.2409A= (p.Gly803=) c.2508A= (p.Gly836=)
2	g.189003017A>C	CA430311356	COL3A1	c.2409A>C (p.Gly803=) c.2508A>C (p.Gly836=)
2	g.189003017A>G	CA430311357	COL3A1	c.2409A>G (p.Gly803=) c.2508A>G (p.Gly836=)	dbSNP gnomAD v4
2	g.189003017A>T	CA430311358	COL3A1	c.2409A>T (p.Gly803=) c.2508A>T (p.Gly836=)
2	g.189003018G>A	CA349842825	COL3A1	c.2410G>A (p.Gly804Ser) c.2509G>A (p.Gly837Ser)	gnomAD v4
2	g.189003018G>C	CA349842826	COL3A1	c.2410G>C (p.Gly804Arg) c.2509G>C (p.Gly837Arg)
2	g.189003018G>T	CA349842827	COL3A1	c.2410G>T (p.Gly804Cys) c.2509G>T (p.Gly837Cys)
2	g.189003019G>A	CA005443	COL3A1	c.2411G>A (p.Gly804Asp) c.2510G>A (p.Gly837Asp)	ClinVar dbSNP gnomAD v4
2	g.189003019G>C	CA349842828	COL3A1	c.2411G>C (p.Gly804Ala) c.2510G>C (p.Gly837Ala)
2	g.189003019G=	CA1315402542	COL3A1	c.2411G= (p.Gly804=) c.2510G= (p.Gly837=)
2	g.189003019G>T	CA349842829	COL3A1	c.2411G>T (p.Gly804Val) c.2510G>T (p.Gly837Val)	gnomAD v4
2	g.189003020C>A	CA430311360	COL3A1	c.2412C>A (p.Gly804=) c.2511C>A (p.Gly837=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003020C=	CA1315402543	COL3A1	c.2412C= (p.Gly804=) c.2511C= (p.Gly837=)
2	g.189003020C>G	CA430311361	COL3A1	c.2412C>G (p.Gly804=) c.2511C>G (p.Gly837=)	gnomAD v4
2	g.189003020C>T	CA430311362	COL3A1	c.2412C>T (p.Gly804=) c.2511C>T (p.Gly837=)	dbSNP gnomAD v3 gnomAD v4
2	g.189003021C>A	CA349842830	COL3A1	c.2413C>A (p.Pro805Thr) c.2512C>A (p.Pro838Thr)
2	g.189003021C=	CA1315402545	COL3A1	c.2413C= (p.Pro805=) c.2512C= (p.Pro838=)
2	g.189003021C>G	CA349842831	COL3A1	c.2413C>G (p.Pro805Ala) c.2512C>G (p.Pro838Ala)
2	g.189003021C>T	CA077814	COL3A1	c.2413C>T (p.Pro805Ser) c.2512C>T (p.Pro838Ser)	dbSNP gnomAD v4
2	g.189003021_189003022insGC	CA1315402544	COL3A1	c.2413_2414insGC (p.Pro805ArgfsTer?) c.2512_2513insGC (p.Pro838ArgfsTer?)	dbSNP
2	g.189003022C>A	CA349842832	COL3A1	c.2414C>A (p.Pro805His) c.2513C>A (p.Pro838His)
2	g.189003022C=	CA1315402546	COL3A1	c.2414C= (p.Pro805=) c.2513C= (p.Pro838=)
2	g.189003022C>G	CA349842833	COL3A1	c.2414C>G (p.Pro805Arg) c.2513C>G (p.Pro838Arg)
2	g.189003022C>T	CA349842834	COL3A1	c.2414C>T (p.Pro805Leu) c.2513C>T (p.Pro838Leu)	dbSNP gnomAD v4
2	g.189003023T>A	CA430311366	COL3A1	c.2415T>A (p.Pro805=) c.2514T>A (p.Pro838=)
2	g.189003023T>C	CA430311367	COL3A1	c.2415T>C (p.Pro805=) c.2514T>C (p.Pro838=)	gnomAD v4
2	g.189003023T>G	CA430311368	COL3A1	c.2415T>G (p.Pro805=) c.2514T>G (p.Pro838=)
2	g.189003024C>A	CA349842837	COL3A1	c.2416C>A (p.Pro806Thr) c.2515C>A (p.Pro839Thr)	gnomAD v4
2	g.189003024C>G	CA349842836	COL3A1	c.2416C>G (p.Pro806Ala) c.2515C>G (p.Pro839Ala)
2	g.189003024C>T	CA349842835	COL3A1	c.2416C>T (p.Pro806Ser) c.2515C>T (p.Pro839Ser)
2	g.189003031_189003048del	CA2522405491	COL3A1	c.2423_2440del (p.Val808_Gly813del) c.2522_2539del (p.Val841_Gly846del) c.2522_2527+12del
2	g.189003025C>A	CA349842838	COL3A1	c.2417C>A (p.Pro806His) c.2516C>A (p.Pro839His)	dbSNP gnomAD v2 gnomAD v4
2	g.189003025C=	CA1315402547	COL3A1	c.2417C= (p.Pro806=) c.2516C= (p.Pro839=)
2	g.189003025C>G	CA349842839	COL3A1	c.2417C>G (p.Pro806Arg) c.2516C>G (p.Pro839Arg)	gnomAD v4
2	g.189003025C>T	CA349842840	COL3A1	c.2417C>T (p.Pro806Leu) c.2516C>T (p.Pro839Leu)
2	g.189003026T>A	CA430311371	COL3A1	c.2418T>A (p.Pro806=) c.2517T>A (p.Pro839=)	gnomAD v4
2	g.189003026T>C	CA430311369	COL3A1	c.2418T>C (p.Pro806=) c.2517T>C (p.Pro839=)
2	g.189003026T>G	CA430311370	COL3A1	c.2418T>G (p.Pro806=) c.2517T>G (p.Pro839=)
2	g.189003027G>A	CA349842841	COL3A1	c.2419G>A (p.Gly807Arg) c.2518G>A (p.Gly840Arg)
2	g.189003027G>C	CA349842842	COL3A1	c.2419G>C (p.Gly807Arg) c.2518G>C (p.Gly840Arg)
2	g.189003027G>T	CA349842843	COL3A1	c.2419G>T (p.Gly807Ter) c.2518G>T (p.Gly840Ter)
2	g.189003028G>A	CA349842844	COL3A1	c.2420G>A (p.Gly807Glu) c.2519G>A (p.Gly840Glu)
2	g.189003028G>C	CA349842845	COL3A1	c.2420G>C (p.Gly807Ala) c.2519G>C (p.Gly840Ala)
2	g.189003028G=	CA1315402548	COL3A1	c.2420G= (p.Gly807=) c.2519G= (p.Gly840=)
2	g.189003028G>T	CA10587538	COL3A1	c.2420G>T (p.Gly807Val) c.2519G>T (p.Gly840Val)	ClinVar dbSNP
2	g.189003029_189003030del	CA2662309703	COL3A1	c.2421_2422del (p.Val808CysfsTer21) c.2520_2521del (p.Val841CysfsTer21) c.2520_2521del (p.Val841CysfsTer24)	gnomAD v4
2	g.189003029A>C	CA430311373	COL3A1	c.2421A>C (p.Gly807=) c.2520A>C (p.Gly840=)
2	g.189003029A>G	CA430311374	COL3A1	c.2421A>G (p.Gly807=) c.2520A>G (p.Gly840=)	gnomAD v4
2	g.189003029A>T	CA430311375	COL3A1	c.2421A>T (p.Gly807=) c.2520A>T (p.Gly840=)
2	g.189003030G>A	CA349842846	COL3A1	c.2422G>A (p.Val808Ile) c.2521G>A (p.Val841Ile)
2	g.189003030G>C	CA349842847	COL3A1	c.2422G>C (p.Val808Leu) c.2521G>C (p.Val841Leu)
2	g.189003030G=	CA1315402549	COL3A1	c.2422G= (p.Val808=) c.2521G= (p.Val841=)
2	g.189003030G>T	CA349842848	COL3A1	c.2422G>T (p.Val808Phe) c.2521G>T (p.Val841Phe)	ClinVar dbSNP gnomAD v4
2	g.189003031T>A	CA349842849	COL3A1	c.2423T>A (p.Val808Asp) c.2522T>A (p.Val841Asp)
2	g.189003031T>C	CA349842851	COL3A1	c.2423T>C (p.Val808Ala) c.2522T>C (p.Val841Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003031T>G	CA349842850	COL3A1	c.2423T>G (p.Val808Gly) c.2522T>G (p.Val841Gly)
2	g.189003031T=	CA1315402550	COL3A1	c.2423T= (p.Val808=) c.2522T= (p.Val841=)
2	g.189003032T>A	CA430311380	COL3A1	c.2424T>A (p.Val808=) c.2523T>A (p.Val841=)
2	g.189003032T>C	CA430311379	COL3A1	c.2424T>C (p.Val808=) c.2523T>C (p.Val841=)
2	g.189003032T>G	CA430311381	COL3A1	c.2424T>G (p.Val808=) c.2523T>G (p.Val841=)
2	g.189003033G>A	CA349842852	COL3A1	c.2425G>A (p.Ala809Thr) c.2524G>A (p.Ala842Thr)	ClinVar gnomAD v4
2	g.189003033G>C	CA349842854	COL3A1	c.2425G>C (p.Ala809Pro) c.2524G>C (p.Ala842Pro)
2	g.189003033G>T	CA349842853	COL3A1	c.2425G>T (p.Ala809Ser) c.2524G>T (p.Ala842Ser)	gnomAD v4
2	g.189003034C>A	CA349842855	COL3A1	c.2426C>A (p.Ala809Glu) c.2525C>A (p.Ala842Glu)	gnomAD v4
2	g.189003034C=	CA1315402551	COL3A1	c.2426C= (p.Ala809=) c.2525C= (p.Ala842=)
2	g.189003034C>G	CA349842857	COL3A1	c.2426C>G (p.Ala809Gly) c.2525C>G (p.Ala842Gly)
2	g.189003034C>T	CA349842856	COL3A1	c.2426C>T (p.Ala809Val) c.2525C>T (p.Ala842Val)	ClinVar dbSNP gnomAD v4
2	g.189003035A>C	CA430311382	COL3A1	c.2427A>C (p.Ala809=) c.2526A>C (p.Ala842=)
2	g.189003035A>G	CA430311384	COL3A1	c.2427A>G (p.Ala809=) c.2526A>G (p.Ala842=)
2	g.189003035A>T	CA430311383	COL3A1	c.2427A>T (p.Ala809=) c.2526A>T (p.Ala842=)	gnomAD v4
2	g.189003036G>A	CA349842858	COL3A1	c.2428G>A (p.Gly810Arg) c.2527G>A (p.Gly843Arg)
2	g.189003036G>C	CA349842860	COL3A1	c.2428G>C (p.Gly810Arg) c.2527G>C (p.Gly843Arg)
2	g.189003036G>T	CA349842859	COL3A1	c.2428G>T (p.Gly810Ter) c.2527G>T (p.Gly843Ter)
2	g.189003037G>A	CA349842861	COL3A1	c.2429G>A (p.Gly810Glu) c.2528G>A (p.Gly843Glu) c.2527+1G>A (n.2527+1G>A)
2	g.189003037G>C	CA349842863	COL3A1	c.2429G>C (p.Gly810Ala) c.2528G>C (p.Gly843Ala) c.2527+1G>C (n.2527+1G>C)
2	g.189003037G>T	CA349842862	COL3A1	c.2429G>T (p.Gly810Val) c.2528G>T (p.Gly843Val) c.2527+1G>T (n.2527+1G>T)
2	g.189003038A=	CA1315402552	COL3A1	c.2430A= (p.Gly810=) c.2529A= (p.Gly843=) c.2527+2A= (n.2527+2A=)
2	g.189003038A>C	CA349842864	COL3A1	c.2430A>C (p.Gly810=) c.2529A>C (p.Gly843=) c.2527+2A>C (n.2527+2A>C)
2	g.189003038A>G	CA349842866	COL3A1	c.2430A>G (p.Gly810=) c.2529A>G (p.Gly843=) c.2527+2A>G (n.2527+2A>G)	gnomAD v4
2	g.189003038A>T	CA349842865	COL3A1	c.2430A>T (p.Gly810=) c.2529A>T (p.Gly843=) c.2527+2A>T (n.2527+2A>T)
2	g.189003039C>A	CA349842867	COL3A1	c.2431C>A (p.Pro811Thr) c.2530C>A (p.Pro844Thr) c.2527+3C>A (n.2527+3C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003039C=	CA1315402553	COL3A1	c.2431C= (p.Pro811=) c.2530C= (p.Pro844=) c.2527+3C= (n.2527+3C=)
2	g.189003039C>G	CA075379	COL3A1	c.2431C>G (p.Pro811Ala) c.2530C>G (p.Pro844Ala) c.2527+3C>G (n.2527+3C>G)	ClinVar dbSNP ExAC gnomAD v4
2	g.189003039C>T	CA349842868	COL3A1	c.2431C>T (p.Pro811Ser) c.2530C>T (p.Pro844Ser) c.2527+3C>T (n.2527+3C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.189003043dup	CA286343	COL3A1	c.2435dup (p.Gly813TrpfsTer17) c.2534dup (p.Gly846TrpfsTer17) c.2527+7dup (n.2527+7dup)	ClinVar dbSNP
2	g.189003043del	CA2753571847	COL3A1	c.2435del (p.Pro812LeufsTer?) c.2534del (p.Pro845LeufsTer?) c.2527+7del (n.2527+7del)
2	g.189003040C>A	CA349842869	COL3A1	c.2432C>A (p.Pro811His) c.2531C>A (p.Pro844His) c.2527+4C>A (n.2527+4C>A)	gnomAD v4
2	g.189003040C=	CA1315402554	COL3A1	c.2432C= (p.Pro811=) c.2531C= (p.Pro844=) c.2527+4C= (n.2527+4C=)
2	g.189003040C>G	CA349842870	COL3A1	c.2432C>G (p.Pro811Arg) c.2531C>G (p.Pro844Arg) c.2527+4C>G (n.2527+4C>G)
2	g.189003040C>T	CA62556378	COL3A1	c.2432C>T (p.Pro811Leu) c.2531C>T (p.Pro844Leu) c.2527+4C>T (n.2527+4C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.189003041C>A	CA430311387	COL3A1	c.2433C>A (p.Pro811=) c.2532C>A (p.Pro844=) c.2527+5C>A (n.2527+5C>A)	gnomAD v4
2	g.189003041C=	CA1315402555	COL3A1	c.2433C= (p.Pro811=) c.2532C= (p.Pro844=) c.2527+5C= (n.2527+5C=)
2	g.189003041C>G	CA430311388	COL3A1	c.2433C>G (p.Pro811=) c.2532C>G (p.Pro844=) c.2527+5C>G (n.2527+5C>G)	dbSNP
2	g.189003041C>T	CA430311389	COL3A1	c.2433C>T (p.Pro811=) c.2532C>T (p.Pro844=) c.2527+5C>T (n.2527+5C>T)	COSMIC
2	g.189003042C>A	CA349842871	COL3A1	c.2434C>A (p.Pro812Thr) c.2533C>A (p.Pro845Thr) c.2527+6C>A (n.2527+6C>A)	gnomAD v4
2	g.189003042C>G	CA349842873	COL3A1	c.2434C>G (p.Pro812Ala) c.2533C>G (p.Pro845Ala) c.2527+6C>G (n.2527+6C>G)	gnomAD v4
2	g.189003042C>T	CA349842872	COL3A1	c.2434C>T (p.Pro812Ser) c.2533C>T (p.Pro845Ser) c.2527+6C>T (n.2527+6C>T)
2	g.189003043C>A	CA349842874	COL3A1	c.2435C>A (p.Pro812His) c.2534C>A (p.Pro845His) c.2527+7C>A (n.2527+7C>A)
2	g.189003043C>G	CA349842875	COL3A1	c.2435C>G (p.Pro812Arg) c.2534C>G (p.Pro845Arg) c.2527+7C>G (n.2527+7C>G)
2	g.189003043C>T	CA349842876	COL3A1	c.2435C>T (p.Pro812Leu) c.2534C>T (p.Pro845Leu) c.2527+7C>T (n.2527+7C>T)	gnomAD v4
2	g.189003044T>A	CA430311390	COL3A1	c.2436T>A (p.Pro812=) c.2535T>A (p.Pro845=) c.2527+8T>A (n.2527+8T>A)
2	g.189003044T>C	CA430311391	COL3A1	c.2436T>C (p.Pro812=) c.2535T>C (p.Pro845=) c.2527+8T>C (n.2527+8T>C)
2	g.189003044T>G	CA430311392	COL3A1	c.2436T>G (p.Pro812=) c.2535T>G (p.Pro845=) c.2527+8T>G (n.2527+8T>G)	dbSNP gnomAD v2 gnomAD v4
2	g.189003044T=	CA1315402556	COL3A1	c.2436T= (p.Pro812=) c.2535T= (p.Pro845=) c.2527+8T= (n.2527+8T=)
2	g.189003045G>A	CA349842877	COL3A1	c.2437G>A (p.Gly813Arg) c.2536G>A (p.Gly846Arg) c.2527+9G>A (n.2527+9G>A)	ClinVar dbSNP
2	g.189003045G>C	CA349842878	COL3A1	c.2437G>C (p.Gly813Arg) c.2536G>C (p.Gly846Arg) c.2527+9G>C (n.2527+9G>C)
2	g.189003045G=	CA1315402557	COL3A1	c.2437G= (p.Gly813=) c.2536G= (p.Gly846=) c.2527+9G= (n.2527+9G=)
2	g.189003045G>T	CA349842879	COL3A1	c.2437G>T (p.Gly813Ter) c.2536G>T (p.Gly846Ter) c.2527+9G>T (n.2527+9G>T)
2	g.189003046G>A	CA349842880	COL3A1	c.2438G>A (p.Gly813Glu) c.2537G>A (p.Gly846Glu) c.2527+10G>A (n.2527+10G>A)
2	g.189003046G>C	CA349842881	COL3A1	c.2438G>C (p.Gly813Ala) c.2537G>C (p.Gly846Ala) c.2527+10G>C (n.2527+10G>C)
2	g.189003046G>T	CA349842882	COL3A1	c.2438G>T (p.Gly813Val) c.2537G>T (p.Gly846Val) c.2527+10G>T (n.2527+10G>T)
2	g.189003047A>C	CA430311395	COL3A1	c.2439A>C (p.Gly813=) c.2538A>C (p.Gly846=) c.2527+11A>C (n.2527+11A>C)	gnomAD v4
2	g.189003047A>G	CA430311396	COL3A1	c.2439A>G (p.Gly813=) c.2538A>G (p.Gly846=) c.2527+11A>G (n.2527+11A>G)
2	g.189003047A>T	CA430311397	COL3A1	c.2439A>T (p.Gly813=) c.2538A>T (p.Gly846=) c.2527+11A>T (n.2527+11A>T)
2	g.189003048G>A	CA349842883	COL3A1	c.2440G>A (p.Gly814Ser) c.2539G>A (p.Gly847Ser) c.2527+12G>A (n.2527+12G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.189003048G>C	CA349842884	COL3A1	c.2440G>C (p.Gly814Arg) c.2539G>C (p.Gly847Arg) c.2527+12G>C (n.2527+12G>C)	gnomAD v4
2	g.189003048G=	CA1315402558	COL3A1	c.2440G= (p.Gly814=) c.2539G= (p.Gly847=) c.2527+12G= (n.2527+12G=)
2	g.189003048G>T	CA349842885	COL3A1	c.2440G>T (p.Gly814Cys) c.2539G>T (p.Gly847Cys) c.2527+12G>T (n.2527+12G>T)
2	g.189003049G>A	CA349842888	COL3A1	c.2441G>A (p.Gly814Asp) c.2540G>A (p.Gly847Asp) c.2527+13G>A (n.2527+13G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.189003049G>C	CA349842887	COL3A1	c.2441G>C (p.Gly814Ala) c.2540G>C (p.Gly847Ala) c.2527+13G>C (n.2527+13G>C)
2	g.189003049G=	CA1315402559	COL3A1	c.2441G= (p.Gly814=) c.2540G= (p.Gly847=) c.2527+13G= (n.2527+13G=)
2	g.189003049G>T	CA349842886	COL3A1	c.2441G>T (p.Gly814Val) c.2540G>T (p.Gly847Val) c.2527+13G>T (n.2527+13G>T)	ClinVar dbSNP gnomAD v4
2	g.189003050T>A	CA430311399	COL3A1	c.2442T>A (p.Gly814=) c.2541T>A (p.Gly847=) c.2527+14T>A (n.2527+14T>A)
2	g.189003050T>C	CA430311400	COL3A1	c.2442T>C (p.Gly814=) c.2541T>C (p.Gly847=) c.2527+14T>C (n.2527+14T>C)	ClinVar
2	g.189003050T>G	CA430311401	COL3A1	c.2442T>G (p.Gly814=) c.2541T>G (p.Gly847=) c.2527+14T>G (n.2527+14T>G)
2	g.189003051T>A	CA349842889	COL3A1	c.2443T>A (p.Ser815Thr) c.2542T>A (p.Ser848Thr) c.2527+15T>A (n.2527+15T>A)	gnomAD v4
2	g.189003051T>C	CA349842890	COL3A1	c.2443T>C (p.Ser815Pro) c.2542T>C (p.Ser848Pro) c.2527+15T>C (n.2527+15T>C)	COSMIC
2	g.189003051T>G	CA349842891	COL3A1	c.2443T>G (p.Ser815Ala) c.2542T>G (p.Ser848Ala) c.2527+15T>G (n.2527+15T>G)
2	g.189003051T=	CA1315402560	COL3A1	c.2443T= (p.Ser815=) c.2542T= (p.Ser848=) c.2527+15T= (n.2527+15T=)
2	g.189003051_189003052insA	CA62556380	COL3A1	c.2443_2444insA (p.Ser815TyrfsTer15) c.2542_2543insA (p.Ser848TyrfsTer15) c.2527+15_2527+16insA (n.2527+15_2527+16insA)	dbSNP
2	g.189003052C>A	CA349842892	COL3A1	c.2444C>A (p.Ser815Tyr) c.2543C>A (p.Ser848Tyr) c.2527+16C>A (n.2527+16C>A)	gnomAD v4
2	g.189003052C>G	CA349842893	COL3A1	c.2444C>G (p.Ser815Cys) c.2543C>G (p.Ser848Cys) c.2527+16C>G (n.2527+16C>G)
2	g.189003052C>T	CA349842894	COL3A1	c.2444C>T (p.Ser815Phe) c.2543C>T (p.Ser848Phe) c.2527+16C>T (n.2527+16C>T)	gnomAD v4
2	g.189003053T>A	CA430311405	COL3A1	c.2445T>A (p.Ser815=) c.2544T>A (p.Ser848=) c.2527+17T>A (n.2527+17T>A)
2	g.189003053T>C	CA430311406	COL3A1	c.2445T>C (p.Ser815=) c.2544T>C (p.Ser848=) c.2527+17T>C (n.2527+17T>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.189003053T>G	CA430311408	COL3A1	c.2445T>G (p.Ser815=) c.2544T>G (p.Ser848=) c.2527+17T>G (n.2527+17T>G)
2	g.189003053T=	CA1315402561	COL3A1	c.2445T= (p.Ser815=) c.2544T= (p.Ser848=) c.2527+17T= (n.2527+17T=)
2	g.189003054G>A	CA349842895	COL3A1	c.2446G>A (p.Gly816Arg) c.2545G>A (p.Gly849Arg) c.2527+18G>A (n.2527+18G>A)
2	g.189003054G>C	CA349842896	COL3A1	c.2446G>C (p.Gly816Arg) c.2545G>C (p.Gly849Arg) c.2527+18G>C (n.2527+18G>C)
2	g.189003054G>T	CA349842897	COL3A1	c.2446G>T (p.Gly816Ter) c.2545G>T (p.Gly849Ter) c.2527+18G>T (n.2527+18G>T)	gnomAD v4
2	g.189003055G>A	CA349842898	COL3A1	c.2447G>A (p.Gly816Glu) c.2546G>A (p.Gly849Glu) c.2527+19G>A (n.2527+19G>A)
2	g.189003055G>C	CA349842899	COL3A1	c.2447G>C (p.Gly816Ala) c.2546G>C (p.Gly849Ala) c.2527+19G>C (n.2527+19G>C)
2	g.189003055G>T	CA349842900	COL3A1	c.2447G>T (p.Gly816Val) c.2546G>T (p.Gly849Val) c.2527+19G>T (n.2527+19G>T)
2	g.189003056A>C	CA430311410	COL3A1	c.2448A>C (p.Gly816=) c.2547A>C (p.Gly849=) c.2527+20A>C (n.2527+20A>C)
2	g.189003056A>G	CA430311412	COL3A1	c.2448A>G (p.Gly816=) c.2547A>G (p.Gly849=) c.2527+20A>G (n.2527+20A>G)	ClinVar dbSNP
2	g.189003056A>T	CA430311411	COL3A1	c.2448A>T (p.Gly816=) c.2547A>T (p.Gly849=) c.2527+20A>T (n.2527+20A>T)
2	g.189003057C>A	CA075382	COL3A1	c.2449C>A (p.Pro817Thr) c.2548C>A (p.Pro850Thr) c.2527+21C>A (n.2527+21C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.189003057C=	CA1315402562	COL3A1	c.2449C= (p.Pro817=) c.2548C= (p.Pro850=) c.2527+21C= (n.2527+21C=)
2	g.189003057C>G	CA349842902	COL3A1	c.2449C>G (p.Pro817Ala) c.2548C>G (p.Pro850Ala) c.2527+21C>G (n.2527+21C>G)
2	g.189003057C>T	CA349842901	COL3A1	c.2449C>T (p.Pro817Ser) c.2548C>T (p.Pro850Ser) c.2527+21C>T (n.2527+21C>T)	gnomAD v4
2	g.189003058C>A	CA349842903	COL3A1	c.2450C>A (p.Pro817His) c.2549C>A (p.Pro850His) c.2527+22C>A (n.2527+22C>A)	gnomAD v4
2	g.189003058C>G	CA349842904	COL3A1	c.2450C>G (p.Pro817Arg) c.2549C>G (p.Pro850Arg) c.2527+22C>G (n.2527+22C>G)	gnomAD v4
2	g.189003058C>T	CA349842905	COL3A1	c.2450C>T (p.Pro817Leu) c.2549C>T (p.Pro850Leu) c.2527+22C>T (n.2527+22C>T)
2	g.189003059T>A	CA430311414	COL3A1	c.2451T>A (p.Pro817=) c.2550T>A (p.Pro850=) c.2527+23T>A (n.2527+23T>A)
2	g.189003059T>C	CA005448	COL3A1	c.2451T>C (p.Pro817=) c.2550T>C (p.Pro850=) c.2527+23T>C (n.2527+23T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003059T>G	CA430311415	COL3A1	c.2451T>G (p.Pro817=) c.2550T>G (p.Pro850=) c.2527+23T>G (n.2527+23T>G)
2	g.189003059T=	CA1315402563	COL3A1	c.2451T= (p.Pro817=) c.2550T= (p.Pro850=) c.2527+23T= (n.2527+23T=)
2	g.189003060G>A	CA349842906	COL3A1	c.2452G>A (p.Ala818Thr) c.2551G>A (p.Ala851Thr) c.2527+24G>A (n.2527+24G>A)	gnomAD v4
2	g.189003060G>C	CA349842907	COL3A1	c.2452G>C (p.Ala818Pro) c.2551G>C (p.Ala851Pro) c.2527+24G>C (n.2527+24G>C)
2	g.189003060G>T	CA349842908	COL3A1	c.2452G>T (p.Ala818Ser) c.2551G>T (p.Ala851Ser) c.2527+24G>T (n.2527+24G>T)
2	g.189003061C>A	CA349842909	COL3A1	c.2453C>A (p.Ala818Asp) c.2552C>A (p.Ala851Asp) c.2527+25C>A (n.2527+25C>A)
2	g.189003061C>G	CA349842910	COL3A1	c.2453C>G (p.Ala818Gly) c.2552C>G (p.Ala851Gly) c.2527+25C>G (n.2527+25C>G)
2	g.189003061C>T	CA349842911	COL3A1	c.2453C>T (p.Ala818Val) c.2552C>T (p.Ala851Val) c.2527+25C>T (n.2527+25C>T)
2	g.189003062T>A	CA430311419	COL3A1	c.2454T>A (p.Ala818=) c.2553T>A (p.Ala851=) c.2527+26T>A (n.2527+26T>A)	ClinVar dbSNP
2	g.189003062T>C	CA430311421	COL3A1	c.2454T>C (p.Ala818=) c.2553T>C (p.Ala851=) c.2527+26T>C (n.2527+26T>C)
2	g.189003062T>G	CA430311422	COL3A1	c.2454T>G (p.Ala818=) c.2553T>G (p.Ala851=) c.2527+26T>G (n.2527+26T>G)	gnomAD v4
2	g.189003062T=	CA1315402565	COL3A1	c.2454T= (p.Ala818=) c.2553T= (p.Ala851=) c.2527+26T= (n.2527+26T=)
2	g.189003062_189003063delinsTG	CA1315402564	COL3A1	c.2454_2454+1delinsTG c.2553_2553+1delinsTG c.2527+26_2527+27delinsTG (n.2527+26_2527+27delinsTG)
2	g.189003063del	CA005456	COL3A1	c.2454+1del (n.2454+1del) c.2553+1del (n.2553+1del) c.2527+27del (n.2527+27del)	ClinVar dbSNP
2	g.189003063G>A	CA005463	COL3A1	c.2454+1G>A (n.2454+1G>A) c.2553+1G>A (n.2553+1G>A) c.2527+27G>A (n.2527+27G>A)	ClinVar dbSNP
2	g.189003063G>C	CA005469	COL3A1	c.2454+1G>C (n.2454+1G>C) c.2553+1G>C (n.2553+1G>C) c.2527+27G>C (n.2527+27G>C)	ClinVar dbSNP gnomAD v4
2	g.189003063G=	CA1315402566	COL3A1	c.2454+1G= (n.2454+1G=) c.2553+1G= (n.2553+1G=) c.2527+27G= (n.2527+27G=)
2	g.189003063G>T	CA349842912	COL3A1	c.2454+1G>T (n.2454+1G>T) c.2553+1G>T (n.2553+1G>T) c.2527+27G>T (n.2527+27G>T)
2	g.189003064T>A	CA349842913	COL3A1	c.2454+2T>A (n.2454+2T>A) c.2553+2T>A (n.2553+2T>A) c.2527+28T>A (n.2527+28T>A)
2	g.189003064T>C	CA005474	COL3A1	c.2454+2T>C (n.2454+2T>C) c.2553+2T>C (n.2553+2T>C) c.2527+28T>C (n.2527+28T>C)	ClinVar dbSNP
2	g.189003064T>G	CA349842914	COL3A1	c.2454+2T>G (n.2454+2T>G) c.2553+2T>G (n.2553+2T>G) c.2527+28T>G (n.2527+28T>G)
2	g.189003064T=	CA1315402567	COL3A1	c.2454+2T= (n.2454+2T=) c.2553+2T= (n.2553+2T=) c.2527+28T= (n.2527+28T=)
2	g.189003064_189003065insTT	CA2586965499	COL3A1	c.2454+2_2454+3insTT (n.2454+2_2454+3insTT) c.2553+2_2553+3insTT (n.2553+2_2553+3insTT) c.2527+28_2527+29insTT (n.2527+28_2527+29insTT)
2	g.189003064_189003066del	CA2662309704	COL3A1	c.2454+2_2454+4del (n.2454+2_2454+4del) c.2553+2_2553+4del (n.2553+2_2553+4del) c.2527+28_2527+30del (n.2527+28_2527+30del)	gnomAD v4
2	g.189003065A=	CA1315402568	COL3A1	c.2454+3A= (n.2454+3A=) c.2553+3A= (n.2553+3A=) c.2527+29A= (n.2527+29A=)
2	g.189003065A>G	CA62556403	COL3A1	c.2454+3A>G (n.2454+3A>G) c.2553+3A>G (n.2553+3A>G) c.2527+29A>G (n.2527+29A>G)	dbSNP gnomAD v4
2	g.189003065A>T	CA005480	COL3A1	c.2454+3A>T (n.2454+3A>T) c.2553+3A>T (n.2553+3A>T) c.2527+29A>T (n.2527+29A>T)	ClinVar dbSNP
2	g.189003067G=	CA1315402569	COL3A1	c.2454+5G= (n.2454+5G=) c.2553+5G= (n.2553+5G=) c.2527+31G= (n.2527+31G=)
2	g.189003067G>T	CA005487	COL3A1	c.2454+5G>T (n.2454+5G>T) c.2553+5G>T (n.2553+5G>T) c.2527+31G>T (n.2527+31G>T)	ClinVar dbSNP
2	g.189003069T>C	CA62556418	COL3A1	c.2454+7T>C (n.2454+7T>C) c.2553+7T>C (n.2553+7T>C) c.2527+33T>C (n.2527+33T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003069T=	CA1315402570	COL3A1	c.2454+7T= (n.2454+7T=) c.2553+7T= (n.2553+7T=) c.2527+33T= (n.2527+33T=)
2	g.189003070C>T	CA2662309705	COL3A1	c.2454+8C>T (n.2454+8C>T) c.2553+8C>T (n.2553+8C>T) c.2527+34C>T (n.2527+34C>T)	gnomAD v4
2	g.189003071C>A	CA2662309706	COL3A1	c.2454+9C>A (n.2454+9C>A) c.2553+9C>A (n.2553+9C>A) c.2527+35C>A (n.2527+35C>A)	gnomAD v4
2	g.189003071C=	CA1315402571	COL3A1	c.2454+9C= (n.2454+9C=) c.2553+9C= (n.2553+9C=) c.2527+35C= (n.2527+35C=)
2	g.189003071C>G	CA2662309707	COL3A1	c.2454+9C>G (n.2454+9C>G) c.2553+9C>G (n.2553+9C>G) c.2527+35C>G (n.2527+35C>G)	gnomAD v4
2	g.189003071C>T	CA10603952	COL3A1	c.2454+9C>T (n.2454+9C>T) c.2553+9C>T (n.2553+9C>T) c.2527+35C>T (n.2527+35C>T)	ClinVar dbSNP gnomAD v4
2	g.189003072T>C	CA2701315593	COL3A1	c.2454+10T>C (n.2454+10T>C) c.2553+10T>C (n.2553+10T>C) c.2527+36T>C (n.2527+36T>C)	dbSNP
2	g.189003073T>C	CA538448855	COL3A1	c.2454+11T>C (n.2454+11T>C) c.2553+11T>C (n.2553+11T>C) c.2527+37T>C (n.2527+37T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.189003073T=	CA1315402572	COL3A1	c.2454+11T= (n.2454+11T=) c.2553+11T= (n.2553+11T=) c.2527+37T= (n.2527+37T=)
2	g.189003074C>A	CA2662309708	COL3A1	c.2454+12C>A (n.2454+12C>A) c.2553+12C>A (n.2553+12C>A) c.2527+38C>A (n.2527+38C>A)	gnomAD v4
2	g.189003074C=	CA1315402573	COL3A1	c.2454+12C= (n.2454+12C=) c.2553+12C= (n.2553+12C=) c.2527+38C= (n.2527+38C=)
2	g.189003074C>G	CA2662309709	COL3A1	c.2454+12C>G (n.2454+12C>G) c.2553+12C>G (n.2553+12C>G) c.2527+38C>G (n.2527+38C>G)	gnomAD v4
2	g.189003074C>T	CA075383	COL3A1	c.2454+12C>T (n.2454+12C>T) c.2553+12C>T (n.2553+12C>T) c.2527+38C>T (n.2527+38C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003074_189003080delinsCCTCTTT	CA1315402574	COL3A1	c.2454+12_2454+18delinsCCTCTTT (n.2454+12_2454+18delinsCCTCTTT) c.2553+12_2553+18delinsCCTCTTT (n.2553+12_2553+18delinsCCTCTTT) c.2527+38_2527+44delinsCCTCTTT (n.2527+38_2527+44delinsCCTCTTT)
2	g.189003075C>A	CA2662309710	COL3A1	c.2454+13C>A (n.2454+13C>A) c.2553+13C>A (n.2553+13C>A) c.2527+39C>A (n.2527+39C>A)	gnomAD v4
2	g.189003075C>T	CA2662309711	COL3A1	c.2454+13C>T (n.2454+13C>T) c.2553+13C>T (n.2553+13C>T) c.2527+39C>T (n.2527+39C>T)	gnomAD v4
2	g.189003079_189003084del	CA538448856	COL3A1	c.2454+17_2454+22del (n.2454+17_2454+22del) c.2553+17_2553+22del (n.2553+17_2553+22del) c.2527+43_2527+48del (n.2527+43_2527+48del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003077C>A	CA2662309712	COL3A1	c.2454+15C>A (n.2454+15C>A) c.2553+15C>A (n.2553+15C>A) c.2527+41C>A (n.2527+41C>A)	gnomAD v4
2	g.189003077C=	CA1315402575	COL3A1	c.2454+15C= (n.2454+15C=) c.2553+15C= (n.2553+15C=) c.2527+41C= (n.2527+41C=)
2	g.189003077C>G	CA2662309713	COL3A1	c.2454+15C>G (n.2454+15C>G) c.2553+15C>G (n.2553+15C>G) c.2527+41C>G (n.2527+41C>G)	gnomAD v4
2	g.189003077C>T	CA1315402576	COL3A1	c.2454+15C>T (n.2454+15C>T) c.2553+15C>T (n.2553+15C>T) c.2527+41C>T (n.2527+41C>T)	dbSNP gnomAD v4
2	g.189003080dup	CA2662309714	COL3A1	c.2454+18dup (n.2454+18dup) c.2553+18dup (n.2553+18dup) c.2527+44dup (n.2527+44dup)	gnomAD v4
2	g.189003080T>C	CA2577185758	COL3A1	c.2454+18T>C (n.2454+18T>C) c.2553+18T>C (n.2553+18T>C) c.2527+44T>C (n.2527+44T>C)	gnomAD v4
2	g.189003080_189003081delinsTC	CA1315402577	COL3A1	c.2454+18_2454+19delinsTC (n.2454+18_2454+19delinsTC) c.2553+18_2553+19delinsTC (n.2553+18_2553+19delinsTC) c.2527+44_2527+45delinsTC (n.2527+44_2527+45delinsTC)
2	g.189003083_189003084del	CA2697551436	COL3A1	c.2454+21_2454+22del (n.2454+21_2454+22del) c.2553+21_2553+22del (n.2553+21_2553+22del) c.2527+47_2527+48del (n.2527+47_2527+48del)	ClinVar
2	g.189003081del	CA1315402579	COL3A1	c.2454+19del (n.2454+19del) c.2553+19del (n.2553+19del) c.2527+45del (n.2527+45del)	dbSNP
2	g.189003081C>A	CA2662309715	COL3A1	c.2454+19C>A (n.2454+19C>A) c.2553+19C>A (n.2553+19C>A) c.2527+45C>A (n.2527+45C>A)	gnomAD v4
2	g.189003081C>T	CA2662309716	COL3A1	c.2454+19C>T (n.2454+19C>T) c.2553+19C>T (n.2553+19C>T) c.2527+45C>T (n.2527+45C>T)	gnomAD v4
2	g.189003081_189003085delinsCTCTG	CA1315402578	COL3A1	c.2454+19_2454+23delinsCTCTG (n.2454+19_2454+23delinsCTCTG) c.2553+19_2553+23delinsCTCTG (n.2553+19_2553+23delinsCTCTG) c.2527+45_2527+49delinsCTCTG (n.2527+45_2527+49delinsCTCTG)
2	g.189003082T>C	CA2662309718	COL3A1	c.2454+20T>C (n.2454+20T>C) c.2553+20T>C (n.2553+20T>C) c.2527+46T>C (n.2527+46T>C)	gnomAD v4
2	g.189003085_189003088del	CA62556427	COL3A1	c.2454+23_2454+26del (n.2454+23_2454+26del) c.2553+23_2553+26del (n.2553+23_2553+26del) c.2527+49_2527+52del (n.2527+49_2527+52del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.189003093_189003130del	CA2662309717	COL3A1	c.2454+31_2454+68del (n.2454+31_2454+68del) c.2553+31_2553+68del (n.2553+31_2553+68del) c.2527+57_2527+94del (n.2527+57_2527+94del)	gnomAD v4
2	g.189003083C>A	CA2662309719	COL3A1	c.2454+21C>A (n.2454+21C>A) c.2553+21C>A (n.2553+21C>A) c.2527+47C>A (n.2527+47C>A)	gnomAD v4
2	g.189003083C>G	CA2701315595	COL3A1	c.2454+21C>G (n.2454+21C>G) c.2553+21C>G (n.2553+21C>G) c.2527+47C>G (n.2527+47C>G)	dbSNP
2	g.189003085G>A	CA1315402581	COL3A1	c.2454+23G>A (n.2454+23G>A) c.2553+23G>A (n.2553+23G>A) c.2527+49G>A (n.2527+49G>A)	dbSNP gnomAD v4
2	g.189003085G=	CA1315402580	COL3A1	c.2454+23G= (n.2454+23G=) c.2553+23G= (n.2553+23G=) c.2527+49G= (n.2527+49G=)
2	g.189003085_189003089delinsGTCTA	CA1315402583	COL3A1	c.2454+23_2454+27delinsGTCTA (n.2454+23_2454+27delinsGTCTA) c.2553+23_2553+27delinsGTCTA (n.2553+23_2553+27delinsGTCTA) c.2527+49_2527+53delinsGTCTA (n.2527+49_2527+53delinsGTCTA)
2	g.189003085_189003100delinsGTCTATCTATCTATCA	CA1315402582	COL3A1	c.2454+23_2454+38delinsGTCTATCTATCTATCA (n.2454+23_2454+38delinsGTCTATCTATCTATCA) c.2553+23_2553+38delinsGTCTATCTATCTATCA (n.2553+23_2553+38delinsGTCTATCTATCTATCA) c.2527+49_2527+64delinsGTCTATCTATCTATCA (n.2527+49_2527+64delinsGTCTATCTATCTATCA)
2	g.189003086T>A	CA2577185759	COL3A1	c.2454+24T>A (n.2454+24T>A) c.2553+24T>A (n.2553+24T>A) c.2527+50T>A (n.2527+50T>A)
2	g.189003096_189003099dup	CA62556431	COL3A1	c.2454+34_2454+37dup (n.2454+34_2454+37dup) c.2553+34_2553+37dup (n.2553+34_2553+37dup) c.2527+60_2527+63dup (n.2527+60_2527+63dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003096_189003099del	CA538448858	COL3A1	c.2454+34_2454+37del (n.2454+34_2454+37del) c.2553+34_2553+37del (n.2553+34_2553+37del) c.2527+60_2527+63del (n.2527+60_2527+63del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003099_189003113dup	CA1315402584	COL3A1	c.2454+37_2454+51dup (n.2454+37_2454+51dup) c.2553+37_2553+51dup (n.2553+37_2553+51dup) c.2527+63_2527+77dup (n.2527+63_2527+77dup)	dbSNP gnomAD v4
2	g.189003099_189003113del	CA538448857	COL3A1	c.2454+37_2454+51del (n.2454+37_2454+51del) c.2553+37_2553+51del (n.2553+37_2553+51del) c.2527+63_2527+77del (n.2527+63_2527+77del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003087C>A	CA2662309720	COL3A1	c.2454+25C>A (n.2454+25C>A) c.2553+25C>A (n.2553+25C>A) c.2527+51C>A (n.2527+51C>A)	gnomAD v4
2	g.189003087C>G	CA2662309721	COL3A1	c.2454+25C>G (n.2454+25C>G) c.2553+25C>G (n.2553+25C>G) c.2527+51C>G (n.2527+51C>G)	gnomAD v4
2	g.189003088T>A	CA2662309722	COL3A1	c.2454+26T>A (n.2454+26T>A) c.2553+26T>A (n.2553+26T>A) c.2527+52T>A (n.2527+52T>A)	gnomAD v4
2	g.189003088T>C	CA2753571848	COL3A1	c.2454+26T>C (n.2454+26T>C) c.2553+26T>C (n.2553+26T>C) c.2527+52T>C (n.2527+52T>C)
2	g.189003088_189003099delinsTATCTATCTATC	CA1315402585	COL3A1	c.2454+26_2454+37delinsTATCTATCTATC (n.2454+26_2454+37delinsTATCTATCTATC) c.2553+26_2553+37delinsTATCTATCTATC (n.2553+26_2553+37delinsTATCTATCTATC) c.2527+52_2527+63delinsTATCTATCTATC (n.2527+52_2527+63delinsTATCTATCTATC)
2	g.189003089A=	CA1315402586	COL3A1	c.2454+27A= (n.2454+27A=) c.2553+27A= (n.2553+27A=) c.2527+53A= (n.2527+53A=)
2	g.189003089A>G	CA538448859	COL3A1	c.2454+27A>G (n.2454+27A>G) c.2553+27A>G (n.2553+27A>G) c.2527+53A>G (n.2527+53A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.189003100_189003110del	CA075386	COL3A1	c.2454+38_2454+48del (n.2454+38_2454+48del) c.2553+38_2553+48del (n.2553+38_2553+48del) c.2527+64_2527+74del (n.2527+64_2527+74del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.189003090T>C	CA62556441	COL3A1	c.2454+28T>C (n.2454+28T>C) c.2553+28T>C (n.2553+28T>C) c.2527+54T>C (n.2527+54T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.189003090T=	CA1315402587	COL3A1	c.2454+28T= (n.2454+28T=) c.2553+28T= (n.2553+28T=) c.2527+54T= (n.2527+54T=)
2	g.189003091C>A	CA2662309723	COL3A1	c.2454+29C>A (n.2454+29C>A) c.2553+29C>A (n.2553+29C>A) c.2527+55C>A (n.2527+55C>A)	gnomAD v4
2	g.189003091C>T	CA2662309724	COL3A1	c.2454+29C>T (n.2454+29C>T) c.2553+29C>T (n.2553+29C>T) c.2527+55C>T (n.2527+55C>T)	gnomAD v4
2	g.189003092T>A	CA2577185760	COL3A1	c.2454+30T>A (n.2454+30T>A) c.2553+30T>A (n.2553+30T>A) c.2527+56T>A (n.2527+56T>A)
2	g.189003092T>C	CA2662309725	COL3A1	c.2454+30T>C (n.2454+30T>C) c.2553+30T>C (n.2553+30T>C) c.2527+56T>C (n.2527+56T>C)	gnomAD v4
2	g.189003093A>G	CA2662309726	COL3A1	c.2454+31A>G (n.2454+31A>G) c.2553+31A>G (n.2553+31A>G) c.2527+57A>G (n.2527+57A>G)	gnomAD v4
2	g.189003094T>C	CA538448860	COL3A1	c.2454+32T>C (n.2454+32T>C) c.2553+32T>C (n.2553+32T>C) c.2527+58T>C (n.2527+58T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.189003094T>G	CA1315402588	COL3A1	c.2454+32T>G (n.2454+32T>G) c.2553+32T>G (n.2553+32T>G) c.2527+58T>G (n.2527+58T>G)	dbSNP
2	g.189003094T=	CA1315402589	COL3A1	c.2454+32T= (n.2454+32T=) c.2553+32T= (n.2553+32T=) c.2527+58T= (n.2527+58T=)
2	g.189003095C>A	CA2662309727	COL3A1	c.2454+33C>A (n.2454+33C>A) c.2553+33C>A (n.2553+33C>A) c.2527+59C>A (n.2527+59C>A)	gnomAD v4
2	g.189003095C=	CA1315402590	COL3A1	c.2454+33C= (n.2454+33C=) c.2553+33C= (n.2553+33C=) c.2527+59C= (n.2527+59C=)
2	g.189003095C>G	CA1315402591	COL3A1	c.2454+33C>G (n.2454+33C>G) c.2553+33C>G (n.2553+33C>G) c.2527+59C>G (n.2527+59C>G)	dbSNP gnomAD v4
2	g.189003095C>T	CA762203317	COL3A1	c.2454+33C>T (n.2454+33C>T) c.2553+33C>T (n.2553+33C>T) c.2527+59C>T (n.2527+59C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.189003096T>C	CA62556445	COL3A1	c.2454+34T>C (n.2454+34T>C) c.2553+34T>C (n.2553+34T>C) c.2527+60T>C (n.2527+60T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.189003096T=	CA1315402592	COL3A1	c.2454+34T= (n.2454+34T=) c.2553+34T= (n.2553+34T=) c.2527+60T= (n.2527+60T=)

Number of alleles fetched