Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189000730_189007456delCA913190215COL3A1c.2185-667_3157-44del
c.2284-667_3256-44del
c.2284-667_2528-598del
 ClinVar
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189001505_189006012delCA913189729COL3A1c.2239-31_2941-194del
c.2338-31_3040-194del
c.2338-31_2528-2042del
 ClinVar
2g.189002973G>ACA005398COL3A1c.2365G>A (p.Gly789Ser)
c.2464G>A (p.Gly822Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002973G>CCA349842735COL3A1c.2365G>C (p.Gly789Arg)
c.2464G>C (p.Gly822Arg)
 gnomAD v4
2g.189002973G=CA1315402515COL3A1c.2365G= (p.Gly789=)
c.2464G= (p.Gly822=)
2g.189002973G>TCA349842736COL3A1c.2365G>T (p.Gly789Cys)
c.2464G>T (p.Gly822Cys)
 gnomAD v4
2g.189002974G>ACA349842738COL3A1c.2366G>A (p.Gly789Asp)
c.2465G>A (p.Gly822Asp)
2g.189002974G>CCA349842739COL3A1c.2366G>C (p.Gly789Ala)
c.2465G>C (p.Gly822Ala)
2g.189002974G>TCA349842737COL3A1c.2366G>T (p.Gly789Val)
c.2465G>T (p.Gly822Val)
 gnomAD v4
2g.189002975T>ACA430311315COL3A1c.2367T>A (p.Gly789=)
c.2466T>A (p.Gly822=)
2g.189002975T>CCA430311316COL3A1c.2367T>C (p.Gly789=)
c.2466T>C (p.Gly822=)
 gnomAD v4
2g.189002975T>GCA430311317COL3A1c.2367T>G (p.Gly789=)
c.2466T>G (p.Gly822=)
2g.189002976G>ACA62556315COL3A1c.2368G>A (p.Gly790Ser)
c.2467G>A (p.Gly823Ser)
 dbSNP
2g.189002976G>CCA349842740COL3A1c.2368G>C (p.Gly790Arg)
c.2467G>C (p.Gly823Arg)
2g.189002976G=CA1315402516COL3A1c.2368G= (p.Gly790=)
c.2467G= (p.Gly823=)
2g.189002976G>TCA349842741COL3A1c.2368G>T (p.Gly790Cys)
c.2467G>T (p.Gly823Cys)
 gnomAD v4
2g.189002977G>ACA349842742COL3A1c.2369G>A (p.Gly790Asp)
c.2468G>A (p.Gly823Asp)
 gnomAD v4
2g.189002977G>CCA349842743COL3A1c.2369G>C (p.Gly790Ala)
c.2468G>C (p.Gly823Ala)
2g.189002977G>TCA349842744COL3A1c.2369G>T (p.Gly790Val)
c.2468G>T (p.Gly823Val)
 gnomAD v4
2g.189002978T>ACA430311318COL3A1c.2370T>A (p.Gly790=)
c.2469T>A (p.Gly823=)
2g.189002978T>CCA430311319COL3A1c.2370T>C (p.Gly790=)
c.2469T>C (p.Gly823=)
2g.189002978T>GCA430311320COL3A1c.2370T>G (p.Gly790=)
c.2469T>G (p.Gly823=)
2g.189002979A>CCA349842747COL3A1c.2371A>C (p.Lys791Gln)
c.2470A>C (p.Lys824Gln)
2g.189002979A>GCA349842745COL3A1c.2371A>G (p.Lys791Glu)
c.2470A>G (p.Lys824Glu)
 gnomAD v4
2g.189002979A>TCA349842746COL3A1c.2371A>T (p.Lys791Ter)
c.2470A>T (p.Lys824Ter)
2g.189002980A=CA1315402517COL3A1c.2372A= (p.Lys791=)
c.2471A= (p.Lys824=)
2g.189002980A>CCA349842748COL3A1c.2372A>C (p.Lys791Thr)
c.2471A>C (p.Lys824Thr)
2g.189002980A>GCA62556320COL3A1c.2372A>G (p.Lys791Arg)
c.2471A>G (p.Lys824Arg)
 dbSNP
2g.189002980A>TCA349842749COL3A1c.2372A>T (p.Lys791Ile)
c.2471A>T (p.Lys824Ile)
2g.189002981A=CA1315402518COL3A1c.2373A= (p.Lys791=)
c.2472A= (p.Lys824=)
2g.189002981A>CCA349842750COL3A1c.2373A>C (p.Lys791Asn)
c.2472A>C (p.Lys824Asn)
2g.189002981A>GCA430311321COL3A1c.2373A>G (p.Lys791=)
c.2472A>G (p.Lys824=)
 dbSNP gnomAD v2 gnomAD v4
2g.189002981A>TCA349842751COL3A1c.2373A>T (p.Lys791Asn)
c.2472A>T (p.Lys824Asn)
 gnomAD v4
2g.189002982G>ACA349842754COL3A1c.2374G>A (p.Gly792Arg)
c.2473G>A (p.Gly825Arg)
2g.189002982G>CCA349842752COL3A1c.2374G>C (p.Gly792Arg)
c.2473G>C (p.Gly825Arg)
2g.189002982G>TCA349842753COL3A1c.2374G>T (p.Gly792Ter)
c.2473G>T (p.Gly825Ter)
 gnomAD v4
2g.189002983G>ACA349842755COL3A1c.2375G>A (p.Gly792Glu)
c.2474G>A (p.Gly825Glu)
 gnomAD v4
2g.189002983G>CCA349842756COL3A1c.2375G>C (p.Gly792Ala)
c.2474G>C (p.Gly825Ala)
2g.189002983G>TCA349842757COL3A1c.2375G>T (p.Gly792Val)
c.2474G>T (p.Gly825Val)
 gnomAD v4
2g.189002984A=CA1315402519COL3A1c.2376A= (p.Gly792=)
c.2475A= (p.Gly825=)
2g.189002984A>CCA430311326COL3A1c.2376A>C (p.Gly792=)
c.2475A>C (p.Gly825=)
2g.189002984A>GCA430311325COL3A1c.2376A>G (p.Gly792=)
c.2475A>G (p.Gly825=)
 dbSNP gnomAD v2
2g.189002984A>TCA430311324COL3A1c.2376A>T (p.Gly792=)
c.2475A>T (p.Gly825=)
2g.189002985G>ACA349842758COL3A1c.2377G>A (p.Glu793Lys)
c.2476G>A (p.Glu826Lys)
 gnomAD v4
2g.189002985G>CCA349842759COL3A1c.2377G>C (p.Glu793Gln)
c.2476G>C (p.Glu826Gln)
2g.189002985G>TCA349842760COL3A1c.2377G>T (p.Glu793Ter)
c.2476G>T (p.Glu826Ter)
 gnomAD v4
2g.189002986A>CCA349842761COL3A1c.2378A>C (p.Glu793Ala)
c.2477A>C (p.Glu826Ala)
2g.189002986A>GCA349842762COL3A1c.2378A>G (p.Glu793Gly)
c.2477A>G (p.Glu826Gly)
2g.189002986A>TCA349842763COL3A1c.2378A>T (p.Glu793Val)
c.2477A>T (p.Glu826Val)
2g.189002988delCA2662309700COL3A1c.2380del (p.Arg794GlufsTer?)
c.2479del (p.Arg827GlufsTer?)
 gnomAD v4
2g.189002987A=CA1315402520COL3A1c.2379A= (p.Glu793=)
c.2478A= (p.Glu826=)
2g.189002987A>CCA349842764COL3A1c.2379A>C (p.Glu793Asp)
c.2478A>C (p.Glu826Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189002987A>GCA430311327COL3A1c.2379A>G (p.Glu793=)
c.2478A>G (p.Glu826=)
2g.189002987A>TCA349842765COL3A1c.2379A>T (p.Glu793Asp)
c.2478A>T (p.Glu826Asp)
2g.189002988A=CA1315402521COL3A1c.2380A= (p.Arg794=)
c.2479A= (p.Arg827=)
2g.189002988A>CCA430311328COL3A1c.2380A>C (p.Arg794=)
c.2479A>C (p.Arg827=)
2g.189002988A>GCA349842766COL3A1c.2380A>G (p.Arg794Gly)
c.2479A>G (p.Arg827Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189002988A>TCA349842767COL3A1c.2380A>T (p.Arg794Ter)
c.2479A>T (p.Arg827Ter)
2g.189002989delCA077848COL3A1c.2381del (p.Arg794LysfsTer?)
c.2480del (p.Arg827LysfsTer?)
2g.189002989G>ACA62556325COL3A1c.2381G>A (p.Arg794Lys)
c.2480G>A (p.Arg827Lys)
 dbSNP
2g.189002989G>CCA349842768COL3A1c.2381G>C (p.Arg794Thr)
c.2480G>C (p.Arg827Thr)
2g.189002989G=CA1315402522COL3A1c.2381G= (p.Arg794=)
c.2480G= (p.Arg827=)
2g.189002989G>TCA349842769COL3A1c.2381G>T (p.Arg794Ile)
c.2480G>T (p.Arg827Ile)
2g.189002990A=CA1315402523COL3A1c.2382A= (p.Arg794=)
c.2481A= (p.Arg827=)
2g.189002990A>CCA349842770COL3A1c.2382A>C (p.Arg794Ser)
c.2481A>C (p.Arg827Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189002990A>GCA430311329COL3A1c.2382A>G (p.Arg794=)
c.2481A>G (p.Arg827=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002990A>TCA349842771COL3A1c.2382A>T (p.Arg794Ser)
c.2481A>T (p.Arg827Ser)
2g.189002991G>ACA349842772COL3A1c.2383G>A (p.Gly795Arg)
c.2482G>A (p.Gly828Arg)
 gnomAD v4
2g.189002991G>CCA349842773COL3A1c.2383G>C (p.Gly795Arg)
c.2482G>C (p.Gly828Arg)
2g.189002991G=CA1315402524COL3A1c.2383G= (p.Gly795=)
c.2482G= (p.Gly828=)
2g.189002991G>TCA077842COL3A1c.2383G>T (p.Gly795Trp)
c.2482G>T (p.Gly828Trp)
 ClinVar dbSNP
2g.189002992G>ACA349842776COL3A1c.2384G>A (p.Gly795Glu)
c.2483G>A (p.Gly828Glu)
 ClinVar gnomAD v4
2g.189002992G>CCA349842775COL3A1c.2384G>C (p.Gly795Ala)
c.2483G>C (p.Gly828Ala)
2g.189002992G>TCA349842774COL3A1c.2384G>T (p.Gly795Val)
c.2483G>T (p.Gly828Val)
 gnomAD v4
2g.189002993G>ACA430311330COL3A1c.2385G>A (p.Gly795=)
c.2484G>A (p.Gly828=)
 gnomAD v4
2g.189002993G>CCA430311331COL3A1c.2385G>C (p.Gly795=)
c.2484G>C (p.Gly828=)
2g.189002993G=CA1315402525COL3A1c.2385G= (p.Gly795=)
c.2484G= (p.Gly828=)
2g.189002993G>TCA430311332COL3A1c.2385G>T (p.Gly795=)
c.2484G>T (p.Gly828=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189002994G>ACA349842777COL3A1c.2386G>A (p.Ala796Thr)
c.2485G>A (p.Ala829Thr)
2g.189002994G>CCA349842778COL3A1c.2386G>C (p.Ala796Pro)
c.2485G>C (p.Ala829Pro)
2g.189002994G=CA1315402527COL3A1c.2386G= (p.Ala796=)
c.2485G= (p.Ala829=)
2g.189002994G>TCA005410COL3A1c.2386G>T (p.Ala796Ser)
c.2485G>T (p.Ala829Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002994_189003021delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCCCA1315402526COL3A1c.2386_2413delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC (p.Ala796=)
c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC (p.Ala829=)
2g.189002995C>ACA349842779COL3A1c.2387C>A (p.Ala796Asp)
c.2486C>A (p.Ala829Asp)
 gnomAD v4
2g.189002995C=CA1315402528COL3A1c.2387C= (p.Ala796=)
c.2486C= (p.Ala829=)
2g.189002995C>GCA349842780COL3A1c.2387C>G (p.Ala796Gly)
c.2486C>G (p.Ala829Gly)
 gnomAD v4
2g.189002995C>TCA349842781COL3A1c.2387C>T (p.Ala796Val)
c.2486C>T (p.Ala829Val)
 dbSNP
2g.189002999_189003025delCA005416COL3A1c.2391_2417del (p.Gly798_Pro806del)
c.2490_2516del (p.Gly831_Pro839del)
 ClinVar dbSNP
2g.189002996T>ACA430311337COL3A1c.2388T>A (p.Ala796=)
c.2487T>A (p.Ala829=)
 dbSNP
2g.189002996T>CCA430311335COL3A1c.2388T>C (p.Ala796=)
c.2487T>C (p.Ala829=)
 gnomAD v4
2g.189002996T>GCA430311336COL3A1c.2388T>G (p.Ala796=)
c.2487T>G (p.Ala829=)
2g.189002996T=CA1315402529COL3A1c.2388T= (p.Ala796=)
c.2487T= (p.Ala829=)
2g.189002997C>ACA349842784COL3A1c.2389C>A (p.Pro797Thr)
c.2488C>A (p.Pro830Thr)
 gnomAD v4
2g.189002997C=CA1315402530COL3A1c.2389C= (p.Pro797=)
c.2488C= (p.Pro830=)
2g.189002997C>GCA349842782COL3A1c.2389C>G (p.Pro797Ala)
c.2488C>G (p.Pro830Ala)
 gnomAD v4
2g.189002997C>TCA349842783COL3A1c.2389C>T (p.Pro797Ser)
c.2488C>T (p.Pro830Ser)
 dbSNP gnomAD v4
2g.189002998delCA2662309701COL3A1c.2390del (p.Pro797ArgfsTer?)
c.2489del (p.Pro830ArgfsTer?)
 gnomAD v4
2g.189002998C>ACA349842785COL3A1c.2390C>A (p.Pro797Gln)
c.2489C>A (p.Pro830Gln)
 gnomAD v4
2g.189002998C=CA1315402531COL3A1c.2390C= (p.Pro797=)
c.2489C= (p.Pro830=)
2g.189002998C>GCA349842786COL3A1c.2390C>G (p.Pro797Arg)
c.2489C>G (p.Pro830Arg)
 ClinVar gnomAD v4
2g.189002998C>TCA10587532COL3A1c.2390C>T (p.Pro797Leu)
c.2489C>T (p.Pro830Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002999G>ACA075363COL3A1c.2391G>A (p.Pro797=)
c.2490G>A (p.Pro830=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002999G>CCA16604063COL3A1c.2391G>C (p.Pro797=)
c.2490G>C (p.Pro830=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002999G=CA1315402532COL3A1c.2391G= (p.Pro797=)
c.2490G= (p.Pro830=)
2g.189002999G>TCA430311344COL3A1c.2391G>T (p.Pro797=)
c.2490G>T (p.Pro830=)
 gnomAD v4
2g.189003001delCA2662309702COL3A1c.2393del (p.Gly798ValfsTer?)
c.2492del (p.Gly831ValfsTer?)
 gnomAD v4
2g.189003000G>ACA349842787COL3A1c.2392G>A (p.Gly798Ser)
c.2491G>A (p.Gly831Ser)
 gnomAD v4
2g.189003000G>CCA349842788COL3A1c.2392G>C (p.Gly798Arg)
c.2491G>C (p.Gly831Arg)
 ClinVar dbSNP
2g.189003000G>TCA349842789COL3A1c.2392G>T (p.Gly798Cys)
c.2491G>T (p.Gly831Cys)
 gnomAD v4
2g.189003001G>ACA349842790COL3A1c.2393G>A (p.Gly798Asp)
c.2492G>A (p.Gly831Asp)
 gnomAD v4
2g.189003001G>CCA349842791COL3A1c.2393G>C (p.Gly798Ala)
c.2492G>C (p.Gly831Ala)
2g.189003001G>TCA349842792COL3A1c.2393G>T (p.Gly798Val)
c.2492G>T (p.Gly831Val)
2g.189003002T>ACA430311345COL3A1c.2394T>A (p.Gly798=)
c.2493T>A (p.Gly831=)
2g.189003002T>CCA075366COL3A1c.2394T>C (p.Gly798=)
c.2493T>C (p.Gly831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189003002T>GCA430311346COL3A1c.2394T>G (p.Gly798=)
c.2493T>G (p.Gly831=)
2g.189003002T=CA1315402533COL3A1c.2394T= (p.Gly798=)
c.2493T= (p.Gly831=)
2g.189003003G>ACA349842793COL3A1c.2395G>A (p.Glu799Lys)
c.2494G>A (p.Glu832Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.189003003G>CCA349842795COL3A1c.2395G>C (p.Glu799Gln)
c.2494G>C (p.Glu832Gln)
2g.189003003G=CA1315402534COL3A1c.2395G= (p.Glu799=)
c.2494G= (p.Glu832=)
2g.189003003G>TCA349842794COL3A1c.2395G>T (p.Glu799Ter)
c.2494G>T (p.Glu832Ter)
 ClinVar dbSNP gnomAD v4
2g.189003004A>CCA349842796COL3A1c.2396A>C (p.Glu799Ala)
c.2495A>C (p.Glu832Ala)
2g.189003004A>GCA349842797COL3A1c.2396A>G (p.Glu799Gly)
c.2495A>G (p.Glu832Gly)
2g.189003004A>TCA349842798COL3A1c.2396A>T (p.Glu799Val)
c.2495A>T (p.Glu832Val)
2g.189003005G>ACA430311347COL3A1c.2397G>A (p.Glu799=)
c.2496G>A (p.Glu832=)
2g.189003005G>CCA349842799COL3A1c.2397G>C (p.Glu799Asp)
c.2496G>C (p.Glu832Asp)
2g.189003005G>TCA349842800COL3A1c.2397G>T (p.Glu799Asp)
c.2496G>T (p.Glu832Asp)
 gnomAD v4 COSMIC COSMIC
2g.189003006A>CCA349842801COL3A1c.2398A>C (p.Lys800Gln)
c.2497A>C (p.Lys833Gln)
2g.189003006A>GCA077826COL3A1c.2398A>G (p.Lys800Glu)
c.2497A>G (p.Lys833Glu)
 gnomAD v4
2g.189003006A>TCA349842802COL3A1c.2398A>T (p.Lys800Ter)
c.2497A>T (p.Lys833Ter)
2g.189003008dupCA077825COL3A1c.2400dup (p.Gly801ArgfsTer2)
c.2499dup (p.Gly834ArgfsTer2)
2g.189003007A=CA1315402535COL3A1c.2399A= (p.Lys800=)
c.2498A= (p.Lys833=)
2g.189003007A>CCA349842803COL3A1c.2399A>C (p.Lys800Thr)
c.2498A>C (p.Lys833Thr)
2g.189003007A>GCA005427COL3A1c.2399A>G (p.Lys800Arg)
c.2498A>G (p.Lys833Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189003007A>TCA349842804COL3A1c.2399A>T (p.Lys800Ile)
c.2498A>T (p.Lys833Ile)
2g.189003008A=CA1315402536COL3A1c.2400A= (p.Lys800=)
c.2499A= (p.Lys833=)
2g.189003008A>CCA349842805COL3A1c.2400A>C (p.Lys800Asn)
c.2499A>C (p.Lys833Asn)
2g.189003008A>GCA430311349COL3A1c.2400A>G (p.Lys800=)
c.2499A>G (p.Lys833=)
 ClinVar gnomAD v4
2g.189003008A>TCA349842806COL3A1c.2400A>T (p.Lys800Asn)
c.2499A>T (p.Lys833Asn)
 ClinVar dbSNP
2g.189003009G>ACA349842809COL3A1c.2401G>A (p.Gly801Ser)
c.2500G>A (p.Gly834Ser)
 ClinVar
2g.189003009G>CCA349842808COL3A1c.2401G>C (p.Gly801Arg)
c.2500G>C (p.Gly834Arg)
 ClinVar dbSNP
2g.189003009G>TCA349842807COL3A1c.2401G>T (p.Gly801Cys)
c.2500G>T (p.Gly834Cys)
 gnomAD v4
2g.189003010G>ACA005435COL3A1c.2402G>A (p.Gly801Asp)
c.2501G>A (p.Gly834Asp)
 ClinVar dbSNP
2g.189003010G>CCA349842810COL3A1c.2402G>C (p.Gly801Ala)
c.2501G>C (p.Gly834Ala)
 ClinVar dbSNP
2g.189003010G=CA1315402537COL3A1c.2402G= (p.Gly801=)
c.2501G= (p.Gly834=)
2g.189003010G>TCA349842811COL3A1c.2402G>T (p.Gly801Val)
c.2501G>T (p.Gly834Val)
2g.189003011T>ACA430311353COL3A1c.2403T>A (p.Gly801=)
c.2502T>A (p.Gly834=)
2g.189003011T>CCA430311354COL3A1c.2403T>C (p.Gly801=)
c.2502T>C (p.Gly834=)
2g.189003011T>GCA430311355COL3A1c.2403T>G (p.Gly801=)
c.2502T>G (p.Gly834=)
2g.189003012G>ACA349842812COL3A1c.2404G>A (p.Glu802Lys)
c.2503G>A (p.Glu835Lys)
2g.189003012G>CCA349842813COL3A1c.2404G>C (p.Glu802Gln)
c.2503G>C (p.Glu835Gln)
2g.189003012G>TCA349842814COL3A1c.2404G>T (p.Glu802Ter)
c.2503G>T (p.Glu835Ter)
2g.189003013A>CCA349842815COL3A1c.2405A>C (p.Glu802Ala)
c.2504A>C (p.Glu835Ala)
2g.189003013A>GCA349842816COL3A1c.2405A>G (p.Glu802Gly)
c.2504A>G (p.Glu835Gly)
 gnomAD v4
2g.189003013A>TCA349842817COL3A1c.2405A>T (p.Glu802Val)
c.2504A>T (p.Glu835Val)
2g.189003014A=CA1315402538COL3A1c.2406A= (p.Glu802=)
c.2505A= (p.Glu835=)
2g.189003014A>CCA349842818COL3A1c.2406A>C (p.Glu802Asp)
c.2505A>C (p.Glu835Asp)
2g.189003014A>GCA077678COL3A1c.2406A>G (p.Glu802=)
c.2505A>G (p.Glu835=)
 dbSNP gnomAD v2 gnomAD v4
2g.189003014A>TCA349842819COL3A1c.2406A>T (p.Glu802Asp)
c.2505A>T (p.Glu835Asp)
2g.189003015G>ACA077675COL3A1c.2407G>A (p.Gly803Arg)
c.2506G>A (p.Gly836Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.189003015G>CCA349842820COL3A1c.2407G>C (p.Gly803Arg)
c.2506G>C (p.Gly836Arg)
2g.189003015G=CA1315402539COL3A1c.2407G= (p.Gly803=)
c.2506G= (p.Gly836=)
2g.189003015G>TCA349842821COL3A1c.2407G>T (p.Gly803Ter)
c.2506G>T (p.Gly836Ter)
2g.189003016G>ACA349842823COL3A1c.2408G>A (p.Gly803Glu)
c.2507G>A (p.Gly836Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.189003016G>CCA349842824COL3A1c.2408G>C (p.Gly803Ala)
c.2507G>C (p.Gly836Ala)
2g.189003016G=CA1315402540COL3A1c.2408G= (p.Gly803=)
c.2507G= (p.Gly836=)
2g.189003016G>TCA349842822COL3A1c.2408G>T (p.Gly803Val)
c.2507G>T (p.Gly836Val)
2g.189003017A=CA1315402541COL3A1c.2409A= (p.Gly803=)
c.2508A= (p.Gly836=)
2g.189003017A>CCA430311356COL3A1c.2409A>C (p.Gly803=)
c.2508A>C (p.Gly836=)
2g.189003017A>GCA430311357COL3A1c.2409A>G (p.Gly803=)
c.2508A>G (p.Gly836=)
 dbSNP gnomAD v4
2g.189003017A>TCA430311358COL3A1c.2409A>T (p.Gly803=)
c.2508A>T (p.Gly836=)
2g.189003018G>ACA349842825COL3A1c.2410G>A (p.Gly804Ser)
c.2509G>A (p.Gly837Ser)
 gnomAD v4
2g.189003018G>CCA349842826COL3A1c.2410G>C (p.Gly804Arg)
c.2509G>C (p.Gly837Arg)
2g.189003018G>TCA349842827COL3A1c.2410G>T (p.Gly804Cys)
c.2509G>T (p.Gly837Cys)
2g.189003019G>ACA005443COL3A1c.2411G>A (p.Gly804Asp)
c.2510G>A (p.Gly837Asp)
 ClinVar dbSNP gnomAD v4
2g.189003019G>CCA349842828COL3A1c.2411G>C (p.Gly804Ala)
c.2510G>C (p.Gly837Ala)
2g.189003019G=CA1315402542COL3A1c.2411G= (p.Gly804=)
c.2510G= (p.Gly837=)
2g.189003019G>TCA349842829COL3A1c.2411G>T (p.Gly804Val)
c.2510G>T (p.Gly837Val)
 gnomAD v4
2g.189003020C>ACA430311360COL3A1c.2412C>A (p.Gly804=)
c.2511C>A (p.Gly837=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003020C=CA1315402543COL3A1c.2412C= (p.Gly804=)
c.2511C= (p.Gly837=)
2g.189003020C>GCA430311361COL3A1c.2412C>G (p.Gly804=)
c.2511C>G (p.Gly837=)
 gnomAD v4
2g.189003020C>TCA430311362COL3A1c.2412C>T (p.Gly804=)
c.2511C>T (p.Gly837=)
 dbSNP gnomAD v3 gnomAD v4
2g.189003021C>ACA349842830COL3A1c.2413C>A (p.Pro805Thr)
c.2512C>A (p.Pro838Thr)
2g.189003021C=CA1315402545COL3A1c.2413C= (p.Pro805=)
c.2512C= (p.Pro838=)
2g.189003021C>GCA349842831COL3A1c.2413C>G (p.Pro805Ala)
c.2512C>G (p.Pro838Ala)
2g.189003021C>TCA077814COL3A1c.2413C>T (p.Pro805Ser)
c.2512C>T (p.Pro838Ser)
 dbSNP gnomAD v4
2g.189003021_189003022insGCCA1315402544COL3A1c.2413_2414insGC (p.Pro805ArgfsTer?)
c.2512_2513insGC (p.Pro838ArgfsTer?)
 dbSNP
2g.189003022C>ACA349842832COL3A1c.2414C>A (p.Pro805His)
c.2513C>A (p.Pro838His)
2g.189003022C=CA1315402546COL3A1c.2414C= (p.Pro805=)
c.2513C= (p.Pro838=)
2g.189003022C>GCA349842833COL3A1c.2414C>G (p.Pro805Arg)
c.2513C>G (p.Pro838Arg)
2g.189003022C>TCA349842834COL3A1c.2414C>T (p.Pro805Leu)
c.2513C>T (p.Pro838Leu)
 dbSNP gnomAD v4
2g.189003023T>ACA430311366COL3A1c.2415T>A (p.Pro805=)
c.2514T>A (p.Pro838=)
2g.189003023T>CCA430311367COL3A1c.2415T>C (p.Pro805=)
c.2514T>C (p.Pro838=)
 gnomAD v4
2g.189003023T>GCA430311368COL3A1c.2415T>G (p.Pro805=)
c.2514T>G (p.Pro838=)
2g.189003024C>ACA349842837COL3A1c.2416C>A (p.Pro806Thr)
c.2515C>A (p.Pro839Thr)
 gnomAD v4
2g.189003024C>GCA349842836COL3A1c.2416C>G (p.Pro806Ala)
c.2515C>G (p.Pro839Ala)
2g.189003024C>TCA349842835COL3A1c.2416C>T (p.Pro806Ser)
c.2515C>T (p.Pro839Ser)
2g.189003031_189003048delCA2522405491COL3A1c.2423_2440del (p.Val808_Gly813del)
c.2522_2539del (p.Val841_Gly846del)
c.2522_2527+12del
2g.189003025C>ACA349842838COL3A1c.2417C>A (p.Pro806His)
c.2516C>A (p.Pro839His)
 dbSNP gnomAD v2 gnomAD v4
2g.189003025C=CA1315402547COL3A1c.2417C= (p.Pro806=)
c.2516C= (p.Pro839=)
2g.189003025C>GCA349842839COL3A1c.2417C>G (p.Pro806Arg)
c.2516C>G (p.Pro839Arg)
 gnomAD v4
2g.189003025C>TCA349842840COL3A1c.2417C>T (p.Pro806Leu)
c.2516C>T (p.Pro839Leu)
2g.189003026T>ACA430311371COL3A1c.2418T>A (p.Pro806=)
c.2517T>A (p.Pro839=)
 gnomAD v4
2g.189003026T>CCA430311369COL3A1c.2418T>C (p.Pro806=)
c.2517T>C (p.Pro839=)
2g.189003026T>GCA430311370COL3A1c.2418T>G (p.Pro806=)
c.2517T>G (p.Pro839=)
2g.189003027G>ACA349842841COL3A1c.2419G>A (p.Gly807Arg)
c.2518G>A (p.Gly840Arg)
2g.189003027G>CCA349842842COL3A1c.2419G>C (p.Gly807Arg)
c.2518G>C (p.Gly840Arg)
2g.189003027G>TCA349842843COL3A1c.2419G>T (p.Gly807Ter)
c.2518G>T (p.Gly840Ter)
2g.189003028G>ACA349842844COL3A1c.2420G>A (p.Gly807Glu)
c.2519G>A (p.Gly840Glu)
2g.189003028G>CCA349842845COL3A1c.2420G>C (p.Gly807Ala)
c.2519G>C (p.Gly840Ala)
2g.189003028G=CA1315402548COL3A1c.2420G= (p.Gly807=)
c.2519G= (p.Gly840=)
2g.189003028G>TCA10587538COL3A1c.2420G>T (p.Gly807Val)
c.2519G>T (p.Gly840Val)
 ClinVar dbSNP
2g.189003029_189003030delCA2662309703COL3A1c.2421_2422del (p.Val808CysfsTer21)
c.2520_2521del (p.Val841CysfsTer21)
c.2520_2521del (p.Val841CysfsTer24)
 gnomAD v4
2g.189003029A>CCA430311373COL3A1c.2421A>C (p.Gly807=)
c.2520A>C (p.Gly840=)
2g.189003029A>GCA430311374COL3A1c.2421A>G (p.Gly807=)
c.2520A>G (p.Gly840=)
 gnomAD v4
2g.189003029A>TCA430311375COL3A1c.2421A>T (p.Gly807=)
c.2520A>T (p.Gly840=)
2g.189003030G>ACA349842846COL3A1c.2422G>A (p.Val808Ile)
c.2521G>A (p.Val841Ile)
2g.189003030G>CCA349842847COL3A1c.2422G>C (p.Val808Leu)
c.2521G>C (p.Val841Leu)
2g.189003030G=CA1315402549COL3A1c.2422G= (p.Val808=)
c.2521G= (p.Val841=)
2g.189003030G>TCA349842848COL3A1c.2422G>T (p.Val808Phe)
c.2521G>T (p.Val841Phe)
 ClinVar dbSNP gnomAD v4
2g.189003031T>ACA349842849COL3A1c.2423T>A (p.Val808Asp)
c.2522T>A (p.Val841Asp)
2g.189003031T>CCA349842851COL3A1c.2423T>C (p.Val808Ala)
c.2522T>C (p.Val841Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003031T>GCA349842850COL3A1c.2423T>G (p.Val808Gly)
c.2522T>G (p.Val841Gly)
2g.189003031T=CA1315402550COL3A1c.2423T= (p.Val808=)
c.2522T= (p.Val841=)
2g.189003032T>ACA430311380COL3A1c.2424T>A (p.Val808=)
c.2523T>A (p.Val841=)
2g.189003032T>CCA430311379COL3A1c.2424T>C (p.Val808=)
c.2523T>C (p.Val841=)
2g.189003032T>GCA430311381COL3A1c.2424T>G (p.Val808=)
c.2523T>G (p.Val841=)
2g.189003033G>ACA349842852COL3A1c.2425G>A (p.Ala809Thr)
c.2524G>A (p.Ala842Thr)
 ClinVar gnomAD v4
2g.189003033G>CCA349842854COL3A1c.2425G>C (p.Ala809Pro)
c.2524G>C (p.Ala842Pro)
2g.189003033G>TCA349842853COL3A1c.2425G>T (p.Ala809Ser)
c.2524G>T (p.Ala842Ser)
 gnomAD v4
2g.189003034C>ACA349842855COL3A1c.2426C>A (p.Ala809Glu)
c.2525C>A (p.Ala842Glu)
 gnomAD v4
2g.189003034C=CA1315402551COL3A1c.2426C= (p.Ala809=)
c.2525C= (p.Ala842=)
2g.189003034C>GCA349842857COL3A1c.2426C>G (p.Ala809Gly)
c.2525C>G (p.Ala842Gly)
2g.189003034C>TCA349842856COL3A1c.2426C>T (p.Ala809Val)
c.2525C>T (p.Ala842Val)
 ClinVar dbSNP gnomAD v4
2g.189003035A>CCA430311382COL3A1c.2427A>C (p.Ala809=)
c.2526A>C (p.Ala842=)
2g.189003035A>GCA430311384COL3A1c.2427A>G (p.Ala809=)
c.2526A>G (p.Ala842=)
2g.189003035A>TCA430311383COL3A1c.2427A>T (p.Ala809=)
c.2526A>T (p.Ala842=)
 gnomAD v4
2g.189003036G>ACA349842858COL3A1c.2428G>A (p.Gly810Arg)
c.2527G>A (p.Gly843Arg)
2g.189003036G>CCA349842860COL3A1c.2428G>C (p.Gly810Arg)
c.2527G>C (p.Gly843Arg)
2g.189003036G>TCA349842859COL3A1c.2428G>T (p.Gly810Ter)
c.2527G>T (p.Gly843Ter)
2g.189003037G>ACA349842861COL3A1c.2429G>A (p.Gly810Glu)
c.2528G>A (p.Gly843Glu)
c.2527+1G>A (n.2527+1G>A)
2g.189003037G>CCA349842863COL3A1c.2429G>C (p.Gly810Ala)
c.2528G>C (p.Gly843Ala)
c.2527+1G>C (n.2527+1G>C)
2g.189003037G>TCA349842862COL3A1c.2429G>T (p.Gly810Val)
c.2528G>T (p.Gly843Val)
c.2527+1G>T (n.2527+1G>T)
2g.189003038A=CA1315402552COL3A1c.2430A= (p.Gly810=)
c.2529A= (p.Gly843=)
c.2527+2A= (n.2527+2A=)
2g.189003038A>CCA349842864COL3A1c.2430A>C (p.Gly810=)
c.2529A>C (p.Gly843=)
c.2527+2A>C (n.2527+2A>C)
2g.189003038A>GCA349842866COL3A1c.2430A>G (p.Gly810=)
c.2529A>G (p.Gly843=)
c.2527+2A>G (n.2527+2A>G)
 gnomAD v4
2g.189003038A>TCA349842865COL3A1c.2430A>T (p.Gly810=)
c.2529A>T (p.Gly843=)
c.2527+2A>T (n.2527+2A>T)
2g.189003039C>ACA349842867COL3A1c.2431C>A (p.Pro811Thr)
c.2530C>A (p.Pro844Thr)
c.2527+3C>A (n.2527+3C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189003039C=CA1315402553COL3A1c.2431C= (p.Pro811=)
c.2530C= (p.Pro844=)
c.2527+3C= (n.2527+3C=)
2g.189003039C>GCA075379COL3A1c.2431C>G (p.Pro811Ala)
c.2530C>G (p.Pro844Ala)
c.2527+3C>G (n.2527+3C>G)
 ClinVar dbSNP ExAC gnomAD v4
2g.189003039C>TCA349842868COL3A1c.2431C>T (p.Pro811Ser)
c.2530C>T (p.Pro844Ser)
c.2527+3C>T (n.2527+3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189003043dupCA286343COL3A1c.2435dup (p.Gly813TrpfsTer17)
c.2534dup (p.Gly846TrpfsTer17)
c.2527+7dup (n.2527+7dup)
 ClinVar dbSNP
2g.189003043delCA2753571847COL3A1c.2435del (p.Pro812LeufsTer?)
c.2534del (p.Pro845LeufsTer?)
c.2527+7del (n.2527+7del)
2g.189003040C>ACA349842869COL3A1c.2432C>A (p.Pro811His)
c.2531C>A (p.Pro844His)
c.2527+4C>A (n.2527+4C>A)
 gnomAD v4
2g.189003040C=CA1315402554COL3A1c.2432C= (p.Pro811=)
c.2531C= (p.Pro844=)
c.2527+4C= (n.2527+4C=)
2g.189003040C>GCA349842870COL3A1c.2432C>G (p.Pro811Arg)
c.2531C>G (p.Pro844Arg)
c.2527+4C>G (n.2527+4C>G)
2g.189003040C>TCA62556378COL3A1c.2432C>T (p.Pro811Leu)
c.2531C>T (p.Pro844Leu)
c.2527+4C>T (n.2527+4C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189003041C>ACA430311387COL3A1c.2433C>A (p.Pro811=)
c.2532C>A (p.Pro844=)
c.2527+5C>A (n.2527+5C>A)
 gnomAD v4
2g.189003041C=CA1315402555COL3A1c.2433C= (p.Pro811=)
c.2532C= (p.Pro844=)
c.2527+5C= (n.2527+5C=)
2g.189003041C>GCA430311388COL3A1c.2433C>G (p.Pro811=)
c.2532C>G (p.Pro844=)
c.2527+5C>G (n.2527+5C>G)
 dbSNP
2g.189003041C>TCA430311389COL3A1c.2433C>T (p.Pro811=)
c.2532C>T (p.Pro844=)
c.2527+5C>T (n.2527+5C>T)
 COSMIC
2g.189003042C>ACA349842871COL3A1c.2434C>A (p.Pro812Thr)
c.2533C>A (p.Pro845Thr)
c.2527+6C>A (n.2527+6C>A)
 gnomAD v4
2g.189003042C>GCA349842873COL3A1c.2434C>G (p.Pro812Ala)
c.2533C>G (p.Pro845Ala)
c.2527+6C>G (n.2527+6C>G)
 gnomAD v4
2g.189003042C>TCA349842872COL3A1c.2434C>T (p.Pro812Ser)
c.2533C>T (p.Pro845Ser)
c.2527+6C>T (n.2527+6C>T)
2g.189003043C>ACA349842874COL3A1c.2435C>A (p.Pro812His)
c.2534C>A (p.Pro845His)
c.2527+7C>A (n.2527+7C>A)
2g.189003043C>GCA349842875COL3A1c.2435C>G (p.Pro812Arg)
c.2534C>G (p.Pro845Arg)
c.2527+7C>G (n.2527+7C>G)
2g.189003043C>TCA349842876COL3A1c.2435C>T (p.Pro812Leu)
c.2534C>T (p.Pro845Leu)
c.2527+7C>T (n.2527+7C>T)
 gnomAD v4
2g.189003044T>ACA430311390COL3A1c.2436T>A (p.Pro812=)
c.2535T>A (p.Pro845=)
c.2527+8T>A (n.2527+8T>A)
2g.189003044T>CCA430311391COL3A1c.2436T>C (p.Pro812=)
c.2535T>C (p.Pro845=)
c.2527+8T>C (n.2527+8T>C)
2g.189003044T>GCA430311392COL3A1c.2436T>G (p.Pro812=)
c.2535T>G (p.Pro845=)
c.2527+8T>G (n.2527+8T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189003044T=CA1315402556COL3A1c.2436T= (p.Pro812=)
c.2535T= (p.Pro845=)
c.2527+8T= (n.2527+8T=)
2g.189003045G>ACA349842877COL3A1c.2437G>A (p.Gly813Arg)
c.2536G>A (p.Gly846Arg)
c.2527+9G>A (n.2527+9G>A)
 ClinVar dbSNP
2g.189003045G>CCA349842878COL3A1c.2437G>C (p.Gly813Arg)
c.2536G>C (p.Gly846Arg)
c.2527+9G>C (n.2527+9G>C)
2g.189003045G=CA1315402557COL3A1c.2437G= (p.Gly813=)
c.2536G= (p.Gly846=)
c.2527+9G= (n.2527+9G=)
2g.189003045G>TCA349842879COL3A1c.2437G>T (p.Gly813Ter)
c.2536G>T (p.Gly846Ter)
c.2527+9G>T (n.2527+9G>T)
2g.189003046G>ACA349842880COL3A1c.2438G>A (p.Gly813Glu)
c.2537G>A (p.Gly846Glu)
c.2527+10G>A (n.2527+10G>A)
2g.189003046G>CCA349842881COL3A1c.2438G>C (p.Gly813Ala)
c.2537G>C (p.Gly846Ala)
c.2527+10G>C (n.2527+10G>C)
2g.189003046G>TCA349842882COL3A1c.2438G>T (p.Gly813Val)
c.2537G>T (p.Gly846Val)
c.2527+10G>T (n.2527+10G>T)
2g.189003047A>CCA430311395COL3A1c.2439A>C (p.Gly813=)
c.2538A>C (p.Gly846=)
c.2527+11A>C (n.2527+11A>C)
 gnomAD v4
2g.189003047A>GCA430311396COL3A1c.2439A>G (p.Gly813=)
c.2538A>G (p.Gly846=)
c.2527+11A>G (n.2527+11A>G)
2g.189003047A>TCA430311397COL3A1c.2439A>T (p.Gly813=)
c.2538A>T (p.Gly846=)
c.2527+11A>T (n.2527+11A>T)
2g.189003048G>ACA349842883COL3A1c.2440G>A (p.Gly814Ser)
c.2539G>A (p.Gly847Ser)
c.2527+12G>A (n.2527+12G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189003048G>CCA349842884COL3A1c.2440G>C (p.Gly814Arg)
c.2539G>C (p.Gly847Arg)
c.2527+12G>C (n.2527+12G>C)
 gnomAD v4
2g.189003048G=CA1315402558COL3A1c.2440G= (p.Gly814=)
c.2539G= (p.Gly847=)
c.2527+12G= (n.2527+12G=)
2g.189003048G>TCA349842885COL3A1c.2440G>T (p.Gly814Cys)
c.2539G>T (p.Gly847Cys)
c.2527+12G>T (n.2527+12G>T)
2g.189003049G>ACA349842888COL3A1c.2441G>A (p.Gly814Asp)
c.2540G>A (p.Gly847Asp)
c.2527+13G>A (n.2527+13G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189003049G>CCA349842887COL3A1c.2441G>C (p.Gly814Ala)
c.2540G>C (p.Gly847Ala)
c.2527+13G>C (n.2527+13G>C)
2g.189003049G=CA1315402559COL3A1c.2441G= (p.Gly814=)
c.2540G= (p.Gly847=)
c.2527+13G= (n.2527+13G=)
2g.189003049G>TCA349842886COL3A1c.2441G>T (p.Gly814Val)
c.2540G>T (p.Gly847Val)
c.2527+13G>T (n.2527+13G>T)
 ClinVar dbSNP gnomAD v4
2g.189003050T>ACA430311399COL3A1c.2442T>A (p.Gly814=)
c.2541T>A (p.Gly847=)
c.2527+14T>A (n.2527+14T>A)
2g.189003050T>CCA430311400COL3A1c.2442T>C (p.Gly814=)
c.2541T>C (p.Gly847=)
c.2527+14T>C (n.2527+14T>C)
 ClinVar
2g.189003050T>GCA430311401COL3A1c.2442T>G (p.Gly814=)
c.2541T>G (p.Gly847=)
c.2527+14T>G (n.2527+14T>G)
2g.189003051T>ACA349842889COL3A1c.2443T>A (p.Ser815Thr)
c.2542T>A (p.Ser848Thr)
c.2527+15T>A (n.2527+15T>A)
 gnomAD v4
2g.189003051T>CCA349842890COL3A1c.2443T>C (p.Ser815Pro)
c.2542T>C (p.Ser848Pro)
c.2527+15T>C (n.2527+15T>C)
 COSMIC
2g.189003051T>GCA349842891COL3A1c.2443T>G (p.Ser815Ala)
c.2542T>G (p.Ser848Ala)
c.2527+15T>G (n.2527+15T>G)
2g.189003051T=CA1315402560COL3A1c.2443T= (p.Ser815=)
c.2542T= (p.Ser848=)
c.2527+15T= (n.2527+15T=)
2g.189003051_189003052insACA62556380COL3A1c.2443_2444insA (p.Ser815TyrfsTer15)
c.2542_2543insA (p.Ser848TyrfsTer15)
c.2527+15_2527+16insA (n.2527+15_2527+16insA)
 dbSNP
2g.189003052C>ACA349842892COL3A1c.2444C>A (p.Ser815Tyr)
c.2543C>A (p.Ser848Tyr)
c.2527+16C>A (n.2527+16C>A)
 gnomAD v4
2g.189003052C>GCA349842893COL3A1c.2444C>G (p.Ser815Cys)
c.2543C>G (p.Ser848Cys)
c.2527+16C>G (n.2527+16C>G)
2g.189003052C>TCA349842894COL3A1c.2444C>T (p.Ser815Phe)
c.2543C>T (p.Ser848Phe)
c.2527+16C>T (n.2527+16C>T)
 gnomAD v4
2g.189003053T>ACA430311405COL3A1c.2445T>A (p.Ser815=)
c.2544T>A (p.Ser848=)
c.2527+17T>A (n.2527+17T>A)
2g.189003053T>CCA430311406COL3A1c.2445T>C (p.Ser815=)
c.2544T>C (p.Ser848=)
c.2527+17T>C (n.2527+17T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189003053T>GCA430311408COL3A1c.2445T>G (p.Ser815=)
c.2544T>G (p.Ser848=)
c.2527+17T>G (n.2527+17T>G)
2g.189003053T=CA1315402561COL3A1c.2445T= (p.Ser815=)
c.2544T= (p.Ser848=)
c.2527+17T= (n.2527+17T=)
2g.189003054G>ACA349842895COL3A1c.2446G>A (p.Gly816Arg)
c.2545G>A (p.Gly849Arg)
c.2527+18G>A (n.2527+18G>A)
2g.189003054G>CCA349842896COL3A1c.2446G>C (p.Gly816Arg)
c.2545G>C (p.Gly849Arg)
c.2527+18G>C (n.2527+18G>C)
2g.189003054G>TCA349842897COL3A1c.2446G>T (p.Gly816Ter)
c.2545G>T (p.Gly849Ter)
c.2527+18G>T (n.2527+18G>T)
 gnomAD v4
2g.189003055G>ACA349842898COL3A1c.2447G>A (p.Gly816Glu)
c.2546G>A (p.Gly849Glu)
c.2527+19G>A (n.2527+19G>A)
2g.189003055G>CCA349842899COL3A1c.2447G>C (p.Gly816Ala)
c.2546G>C (p.Gly849Ala)
c.2527+19G>C (n.2527+19G>C)
2g.189003055G>TCA349842900COL3A1c.2447G>T (p.Gly816Val)
c.2546G>T (p.Gly849Val)
c.2527+19G>T (n.2527+19G>T)
2g.189003056A>CCA430311410COL3A1c.2448A>C (p.Gly816=)
c.2547A>C (p.Gly849=)
c.2527+20A>C (n.2527+20A>C)
2g.189003056A>GCA430311412COL3A1c.2448A>G (p.Gly816=)
c.2547A>G (p.Gly849=)
c.2527+20A>G (n.2527+20A>G)
 ClinVar dbSNP
2g.189003056A>TCA430311411COL3A1c.2448A>T (p.Gly816=)
c.2547A>T (p.Gly849=)
c.2527+20A>T (n.2527+20A>T)
2g.189003057C>ACA075382COL3A1c.2449C>A (p.Pro817Thr)
c.2548C>A (p.Pro850Thr)
c.2527+21C>A (n.2527+21C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189003057C=CA1315402562COL3A1c.2449C= (p.Pro817=)
c.2548C= (p.Pro850=)
c.2527+21C= (n.2527+21C=)
2g.189003057C>GCA349842902COL3A1c.2449C>G (p.Pro817Ala)
c.2548C>G (p.Pro850Ala)
c.2527+21C>G (n.2527+21C>G)
2g.189003057C>TCA349842901COL3A1c.2449C>T (p.Pro817Ser)
c.2548C>T (p.Pro850Ser)
c.2527+21C>T (n.2527+21C>T)
 gnomAD v4
2g.189003058C>ACA349842903COL3A1c.2450C>A (p.Pro817His)
c.2549C>A (p.Pro850His)
c.2527+22C>A (n.2527+22C>A)
 gnomAD v4
2g.189003058C>GCA349842904COL3A1c.2450C>G (p.Pro817Arg)
c.2549C>G (p.Pro850Arg)
c.2527+22C>G (n.2527+22C>G)
 gnomAD v4
2g.189003058C>TCA349842905COL3A1c.2450C>T (p.Pro817Leu)
c.2549C>T (p.Pro850Leu)
c.2527+22C>T (n.2527+22C>T)
2g.189003059T>ACA430311414COL3A1c.2451T>A (p.Pro817=)
c.2550T>A (p.Pro850=)
c.2527+23T>A (n.2527+23T>A)
2g.189003059T>CCA005448COL3A1c.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
2g.189003059T>GCA430311415COL3A1c.2451T>G (p.Pro817=)
c.2550T>G (p.Pro850=)
c.2527+23T>G (n.2527+23T>G)
2g.189003059T=CA1315402563COL3A1c.2451T= (p.Pro817=)
c.2550T= (p.Pro850=)
c.2527+23T= (n.2527+23T=)
2g.189003060G>ACA349842906COL3A1c.2452G>A (p.Ala818Thr)
c.2551G>A (p.Ala851Thr)
c.2527+24G>A (n.2527+24G>A)
 gnomAD v4
2g.189003060G>CCA349842907COL3A1c.2452G>C (p.Ala818Pro)
c.2551G>C (p.Ala851Pro)
c.2527+24G>C (n.2527+24G>C)
2g.189003060G>TCA349842908COL3A1c.2452G>T (p.Ala818Ser)
c.2551G>T (p.Ala851Ser)
c.2527+24G>T (n.2527+24G>T)
2g.189003061C>ACA349842909COL3A1c.2453C>A (p.Ala818Asp)
c.2552C>A (p.Ala851Asp)
c.2527+25C>A (n.2527+25C>A)
2g.189003061C>GCA349842910COL3A1c.2453C>G (p.Ala818Gly)
c.2552C>G (p.Ala851Gly)
c.2527+25C>G (n.2527+25C>G)
2g.189003061C>TCA349842911COL3A1c.2453C>T (p.Ala818Val)
c.2552C>T (p.Ala851Val)
c.2527+25C>T (n.2527+25C>T)
2g.189003062T>ACA430311419COL3A1c.2454T>A (p.Ala818=)
c.2553T>A (p.Ala851=)
c.2527+26T>A (n.2527+26T>A)
 ClinVar dbSNP
2g.189003062T>CCA430311421COL3A1c.2454T>C (p.Ala818=)
c.2553T>C (p.Ala851=)
c.2527+26T>C (n.2527+26T>C)
2g.189003062T>GCA430311422COL3A1c.2454T>G (p.Ala818=)
c.2553T>G (p.Ala851=)
c.2527+26T>G (n.2527+26T>G)
 gnomAD v4
2g.189003062T=CA1315402565COL3A1c.2454T= (p.Ala818=)
c.2553T= (p.Ala851=)
c.2527+26T= (n.2527+26T=)
2g.189003062_189003063delinsTGCA1315402564COL3A1c.2454_2454+1delinsTG
c.2553_2553+1delinsTG
c.2527+26_2527+27delinsTG (n.2527+26_2527+27delinsTG)
2g.189003063delCA005456COL3A1c.2454+1del (n.2454+1del)
c.2553+1del (n.2553+1del)
c.2527+27del (n.2527+27del)
 ClinVar dbSNP
2g.189003063G>ACA005463COL3A1c.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
2g.189003063G>CCA005469COL3A1c.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
2g.189003063G=CA1315402566COL3A1c.2454+1G= (n.2454+1G=)
c.2553+1G= (n.2553+1G=)
c.2527+27G= (n.2527+27G=)
2g.189003063G>TCA349842912COL3A1c.2454+1G>T (n.2454+1G>T)
c.2553+1G>T (n.2553+1G>T)
c.2527+27G>T (n.2527+27G>T)
2g.189003064T>ACA349842913COL3A1c.2454+2T>A (n.2454+2T>A)
c.2553+2T>A (n.2553+2T>A)
c.2527+28T>A (n.2527+28T>A)
2g.189003064T>CCA005474COL3A1c.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
2g.189003064T>GCA349842914COL3A1c.2454+2T>G (n.2454+2T>G)
c.2553+2T>G (n.2553+2T>G)
c.2527+28T>G (n.2527+28T>G)
2g.189003064T=CA1315402567COL3A1c.2454+2T= (n.2454+2T=)
c.2553+2T= (n.2553+2T=)
c.2527+28T= (n.2527+28T=)
2g.189003064_189003065insTTCA2586965499COL3A1c.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)
2g.189003064_189003066delCA2662309704COL3A1c.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
2g.189003065A=CA1315402568COL3A1c.2454+3A= (n.2454+3A=)
c.2553+3A= (n.2553+3A=)
c.2527+29A= (n.2527+29A=)
2g.189003065A>GCA62556403COL3A1c.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
2g.189003065A>TCA005480COL3A1c.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
2g.189003067G=CA1315402569COL3A1c.2454+5G= (n.2454+5G=)
c.2553+5G= (n.2553+5G=)
c.2527+31G= (n.2527+31G=)
2g.189003067G>TCA005487COL3A1c.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
2g.189003069T>CCA62556418COL3A1c.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
2g.189003069T=CA1315402570COL3A1c.2454+7T= (n.2454+7T=)
c.2553+7T= (n.2553+7T=)
c.2527+33T= (n.2527+33T=)
2g.189003070C>TCA2662309705COL3A1c.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
2g.189003071C>ACA2662309706COL3A1c.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
2g.189003071C=CA1315402571COL3A1c.2454+9C= (n.2454+9C=)
c.2553+9C= (n.2553+9C=)
c.2527+35C= (n.2527+35C=)
2g.189003071C>GCA2662309707COL3A1c.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
2g.189003071C>TCA10603952COL3A1c.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
2g.189003072T>CCA2701315593COL3A1c.2454+10T>C (n.2454+10T>C)
c.2553+10T>C (n.2553+10T>C)
c.2527+36T>C (n.2527+36T>C)
 dbSNP
2g.189003073T>CCA538448855COL3A1c.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
2g.189003073T=CA1315402572COL3A1c.2454+11T= (n.2454+11T=)
c.2553+11T= (n.2553+11T=)
c.2527+37T= (n.2527+37T=)

Number of alleles fetched