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.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) | ClinVar |
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) | ClinVar |
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) | ClinVar 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=) | ClinVar 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) | ClinVar |
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) | ClinVar 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) | ClinVar 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=) | |
2 | g.189003097A= | CA1315402593 | COL3A1 | c.2454+35A= (n.2454+35A=) c.2553+35A= (n.2553+35A=) c.2527+61A= (n.2527+61A=) | |
2 | g.189003097A>G | CA075389 | COL3A1 | c.2454+35A>G (n.2454+35A>G) c.2553+35A>G (n.2553+35A>G) c.2527+61A>G (n.2527+61A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189003097A>T | CA2662309728 | COL3A1 | c.2454+35A>T (n.2454+35A>T) c.2553+35A>T (n.2553+35A>T) c.2527+61A>T (n.2527+61A>T) | gnomAD v4 |
2 | g.189003098T>C | CA075390 | COL3A1 | c.2454+36T>C (n.2454+36T>C) c.2553+36T>C (n.2553+36T>C) c.2527+62T>C (n.2527+62T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189003098T= | CA1315402594 | COL3A1 | c.2454+36T= (n.2454+36T=) c.2553+36T= (n.2553+36T=) c.2527+62T= (n.2527+62T=) | |
2 | g.189003099C>A | CA2577185761 | COL3A1 | c.2454+37C>A (n.2454+37C>A) c.2553+37C>A (n.2553+37C>A) c.2527+63C>A (n.2527+63C>A) | gnomAD v4 |
2 | g.189003099C= | CA1315402595 | COL3A1 | c.2454+37C= (n.2454+37C=) c.2553+37C= (n.2553+37C=) c.2527+63C= (n.2527+63C=) | |
2 | g.189003099C>G | CA1315402596 | COL3A1 | c.2454+37C>G (n.2454+37C>G) c.2553+37C>G (n.2553+37C>G) c.2527+63C>G (n.2527+63C>G) | dbSNP |
2 | g.189003099C>T | CA762203331 | COL3A1 | c.2454+37C>T (n.2454+37C>T) c.2553+37C>T (n.2553+37C>T) c.2527+63C>T (n.2527+63C>T) | dbSNP gnomAD v4 |
2 | g.189003099_189003100insT | CA916734411 | COL3A1 | c.2454+37_2454+38insT (n.2454+37_2454+38insT) c.2553+37_2553+38insT (n.2553+37_2553+38insT) c.2527+63_2527+64insT (n.2527+63_2527+64insT) | dbSNP |
2 | g.189003110_189003113dup | CA762203337 | COL3A1 | c.2454+48_2454+51dup (n.2454+48_2454+51dup) c.2553+48_2553+51dup (n.2553+48_2553+51dup) c.2527+74_2527+77dup (n.2527+74_2527+77dup) | dbSNP gnomAD v4 |
2 | g.189003110_189003113del | CA2577185762 | COL3A1 | c.2454+48_2454+51del (n.2454+48_2454+51del) c.2553+48_2553+51del (n.2553+48_2553+51del) c.2527+74_2527+77del (n.2527+74_2527+77del) | gnomAD v4 |
2 | g.189003101T>A | CA2577185763 | COL3A1 | c.2454+39T>A (n.2454+39T>A) c.2553+39T>A (n.2553+39T>A) c.2527+65T>A (n.2527+65T>A) | gnomAD v4 |
2 | g.189003101T>C | CA2740351975 | COL3A1 | c.2454+39T>C (n.2454+39T>C) c.2553+39T>C (n.2553+39T>C) c.2527+65T>C (n.2527+65T>C) | |
2 | g.189003102C>A | CA2662309729 | COL3A1 | c.2454+40C>A (n.2454+40C>A) c.2553+40C>A (n.2553+40C>A) c.2527+66C>A (n.2527+66C>A) | gnomAD v4 |
2 | g.189003103T>C | CA2662309730 | COL3A1 | c.2454+41T>C (n.2454+41T>C) c.2553+41T>C (n.2553+41T>C) c.2527+67T>C (n.2527+67T>C) | gnomAD v4 |
2 | g.189003103T>G | CA2662309731 | COL3A1 | c.2454+41T>G (n.2454+41T>G) c.2553+41T>G (n.2553+41T>G) c.2527+67T>G (n.2527+67T>G) | gnomAD v4 |
2 | g.189003104A= | CA1315402597 | COL3A1 | c.2454+42A= (n.2454+42A=) c.2553+42A= (n.2553+42A=) c.2527+68A= (n.2527+68A=) | |
2 | g.189003104A>C | CA538448861 | COL3A1 | c.2454+42A>C (n.2454+42A>C) c.2553+42A>C (n.2553+42A>C) c.2527+68A>C (n.2527+68A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189003104A>G | CA62556475 | COL3A1 | c.2454+42A>G (n.2454+42A>G) c.2553+42A>G (n.2553+42A>G) c.2527+68A>G (n.2527+68A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189003104A>T | CA538448862 | COL3A1 | c.2454+42A>T (n.2454+42A>T) c.2553+42A>T (n.2553+42A>T) c.2527+68A>T (n.2527+68A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189003105T>C | CA2753571849 | COL3A1 | c.2454+43T>C (n.2454+43T>C) c.2553+43T>C (n.2553+43T>C) c.2527+69T>C (n.2527+69T>C) |