Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94418886_94423301delCA257749COL1A2c.2025+334_2565+183del
c.2019+334_2559+183del
 ClinVar
7g.94423020G>ACA368223986COL1A2c.2467G>A (p.Gly823Ser)
n.550G>A
n.864G>A
c.2461G>A (p.Gly821Ser)
7g.94423020G>CCA368223987COL1A2c.2467G>C (p.Gly823Arg)
n.550G>C
n.864G>C
c.2461G>C (p.Gly821Arg)
7g.94423020G>TCA368223988COL1A2c.2467G>T (p.Gly823Cys)
n.550G>T
n.864G>T
c.2461G>T (p.Gly821Cys)
7g.94423021G>ACA368223991COL1A2c.2468G>A (p.Gly823Asp)
n.551G>A
n.865G>A
c.2462G>A (p.Gly821Asp)
7g.94423021G>CCA368223990COL1A2c.2468G>C (p.Gly823Ala)
n.551G>C
n.865G>C
c.2462G>C (p.Gly821Ala)
7g.94423021G>TCA368223989COL1A2c.2468G>T (p.Gly823Val)
n.551G>T
n.865G>T
c.2462G>T (p.Gly821Val)
7g.94423022T>ACA456489604COL1A2c.2469T>A (p.Gly823=)
n.552T>A
n.866T>A
c.2463T>A (p.Gly821=)
 ClinVar dbSNP
7g.94423022T>CCA456489606COL1A2c.2469T>C (p.Gly823=)
n.552T>C
n.866T>C
c.2463T>C (p.Gly821=)
7g.94423022T>GCA456489605COL1A2c.2469T>G (p.Gly823=)
n.552T>G
n.866T>G
c.2463T>G (p.Gly821=)
7g.94423022T=CA1726776650COL1A2c.2469T= (p.Gly823=)
n.552T=
n.866T=
c.2463T= (p.Gly821=)
7g.94423023G>ACA368223992COL1A2c.2470G>A (p.Asp824Asn)
n.553G>A
n.867G>A
c.2464G>A (p.Asp822Asn)
7g.94423023G>CCA368223993COL1A2c.2470G>C (p.Asp824His)
n.553G>C
n.867G>C
c.2464G>C (p.Asp822His)
7g.94423023G>TCA368223994COL1A2c.2470G>T (p.Asp824Tyr)
n.553G>T
n.867G>T
c.2464G>T (p.Asp822Tyr)
7g.94423024A=CA1726776656COL1A2c.2471A= (p.Asp824=)
n.554A=
n.868A=
c.2465A= (p.Asp822=)
7g.94423024A>CCA368223995COL1A2c.2471A>C (p.Asp824Ala)
n.554A>C
n.868A>C
c.2465A>C (p.Asp822Ala)
7g.94423024A>GCA368223996COL1A2c.2471A>G (p.Asp824Gly)
n.554A>G
n.868A>G
c.2465A>G (p.Asp822Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.94423024A>TCA368223997COL1A2c.2471A>T (p.Asp824Val)
n.554A>T
n.868A>T
c.2465A>T (p.Asp822Val)
7g.94423025C>ACA368223998COL1A2c.2472C>A (p.Asp824Glu)
n.555C>A
n.869C>A
c.2466C>A (p.Asp822Glu)
7g.94423025C=CA1726776661COL1A2c.2472C= (p.Asp824=)
n.555C=
n.869C=
c.2466C= (p.Asp822=)
7g.94423025C>GCA368223999COL1A2c.2472C>G (p.Asp824Glu)
n.555C>G
n.869C>G
c.2466C>G (p.Asp822Glu)
7g.94423025C>TCA456489607COL1A2c.2472C>T (p.Asp824=)
n.555C>T
n.869C>T
c.2466C>T (p.Asp822=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.94423026C>ACA162937962COL1A2c.2473C>A (p.Gln825Lys)
n.556C>A
n.870C>A
c.2467C>A (p.Gln823Lys)
 dbSNP
7g.94423026C=CA1726776671COL1A2c.2473C= (p.Gln825=)
n.556C=
n.870C=
c.2467C= (p.Gln823=)
7g.94423026C>GCA368224000COL1A2c.2473C>G (p.Gln825Glu)
n.556C>G
n.870C>G
c.2467C>G (p.Gln823Glu)
 gnomAD v4
7g.94423026C>TCA368224001COL1A2c.2473C>T (p.Gln825Ter)
n.556C>T
n.870C>T
c.2467C>T (p.Gln823Ter)
7g.94423027A=CA1726776675COL1A2c.2474A= (p.Gln825=)
n.557A=
n.871A=
c.2468A= (p.Gln823=)
7g.94423027A>CCA368224002COL1A2c.2474A>C (p.Gln825Pro)
n.557A>C
n.871A>C
c.2468A>C (p.Gln823Pro)
 ClinVar dbSNP gnomAD v4
7g.94423027A>GCA4347455COL1A2c.2474A>G (p.Gln825Arg)
n.557A>G
n.871A>G
c.2468A>G (p.Gln823Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423027A>TCA368224003COL1A2c.2474A>T (p.Gln825Leu)
n.557A>T
n.871A>T
c.2468A>T (p.Gln823Leu)
7g.94423028A>CCA368224004COL1A2c.2475A>C (p.Gln825His)
n.558A>C
n.872A>C
c.2469A>C (p.Gln823His)
7g.94423028A>GCA456489608COL1A2c.2475A>G (p.Gln825=)
n.558A>G
n.872A>G
c.2469A>G (p.Gln823=)
7g.94423028A>TCA368224005COL1A2c.2475A>T (p.Gln825His)
n.558A>T
n.872A>T
c.2469A>T (p.Gln823His)
7g.94423029G>ACA368224006COL1A2c.2476G>A (p.Gly826Ser)
n.559G>A
n.873G>A
c.2470G>A (p.Gly824Ser)
7g.94423029G>CCA368224007COL1A2c.2476G>C (p.Gly826Arg)
n.559G>C
n.873G>C
c.2470G>C (p.Gly824Arg)
7g.94423029G>TCA368224008COL1A2c.2476G>T (p.Gly826Cys)
n.559G>T
n.873G>T
c.2470G>T (p.Gly824Cys)
 COSMIC
7g.94423030G>ACA368224009COL1A2c.2477G>A (p.Gly826Asp)
n.560G>A
n.874G>A
c.2471G>A (p.Gly824Asp)
7g.94423030G>CCA368224010COL1A2c.2477G>C (p.Gly826Ala)
n.560G>C
n.874G>C
c.2471G>C (p.Gly824Ala)
7g.94423030G>TCA368224011COL1A2c.2477G>T (p.Gly826Val)
n.560G>T
n.874G>T
c.2471G>T (p.Gly824Val)
7g.94423031T>ACA456489609COL1A2c.2478T>A (p.Gly826=)
n.561T>A
n.875T>A
c.2472T>A (p.Gly824=)
7g.94423031T>CCA456489610COL1A2c.2478T>C (p.Gly826=)
n.561T>C
n.875T>C
c.2472T>C (p.Gly824=)
7g.94423031T>GCA456489611COL1A2c.2478T>G (p.Gly826=)
n.561T>G
n.875T>G
c.2472T>G (p.Gly824=)
7g.94423032C>ACA368224012COL1A2c.2479C>A (p.Pro827Thr)
n.562C>A
n.876C>A
c.2473C>A (p.Pro825Thr)
7g.94423032C=CA1726776679COL1A2c.2479C= (p.Pro827=)
n.562C=
n.876C=
c.2473C= (p.Pro825=)
7g.94423032C>GCA368224013COL1A2c.2479C>G (p.Pro827Ala)
n.562C>G
n.876C>G
c.2473C>G (p.Pro825Ala)
7g.94423032C>TCA4347456COL1A2c.2479C>T (p.Pro827Ser)
n.562C>T
n.876C>T
c.2473C>T (p.Pro825Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423033C>ACA368224014COL1A2c.2480C>A (p.Pro827Gln)
n.563C>A
n.877C>A
c.2474C>A (p.Pro825Gln)
7g.94423033C=CA1726776684COL1A2c.2480C= (p.Pro827=)
n.563C=
n.877C=
c.2474C= (p.Pro825=)
7g.94423033C>GCA368224015COL1A2c.2480C>G (p.Pro827Arg)
n.563C>G
n.877C>G
c.2474C>G (p.Pro825Arg)
7g.94423033C>TCA4347457COL1A2c.2480C>T (p.Pro827Leu)
n.563C>T
n.877C>T
c.2474C>T (p.Pro825Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94423034A=CA1726776689COL1A2c.2481A= (p.Pro827=)
n.564A=
n.878A=
c.2475A= (p.Pro825=)
7g.94423034A>CCA4347458COL1A2c.2481A>C (p.Pro827=)
n.564A>C
n.878A>C
c.2475A>C (p.Pro825=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423034A>GCA456489612COL1A2c.2481A>G (p.Pro827=)
n.564A>G
n.878A>G
c.2475A>G (p.Pro825=)
7g.94423034A>TCA456489613COL1A2c.2481A>T (p.Pro827=)
n.564A>T
n.878A>T
c.2475A>T (p.Pro825=)
 ClinVar
7g.94423035G>ACA368224017COL1A2c.2482G>A (p.Val828Ile)
n.565G>A
n.879G>A
c.2476G>A (p.Val826Ile)
7g.94423035G>CCA368224016COL1A2c.2482G>C (p.Val828Leu)
n.565G>C
n.879G>C
c.2476G>C (p.Val826Leu)
 gnomAD v4
7g.94423035G=CA1726776693COL1A2c.2482G= (p.Val828=)
n.565G=
n.879G=
c.2476G= (p.Val826=)
7g.94423035G>TCA4347459COL1A2c.2482G>T (p.Val828Phe)
n.565G>T
n.879G>T
c.2476G>T (p.Val826Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423036T>ACA368224018COL1A2c.2483T>A (p.Val828Asp)
n.566T>A
n.880T>A
c.2477T>A (p.Val826Asp)
7g.94423036T>CCA368224019COL1A2c.2483T>C (p.Val828Ala)
n.566T>C
n.880T>C
c.2477T>C (p.Val826Ala)
7g.94423036T>GCA368224020COL1A2c.2483T>G (p.Val828Gly)
n.566T>G
n.880T>G
c.2477T>G (p.Val826Gly)
7g.94423037T>ACA456489614COL1A2c.2484T>A (p.Val828=)
n.567T>A
n.881T>A
c.2478T>A (p.Val826=)
7g.94423037T>CCA456489616COL1A2c.2484T>C (p.Val828=)
n.567T>C
n.881T>C
c.2478T>C (p.Val826=)
7g.94423037T>GCA456489615COL1A2c.2484T>G (p.Val828=)
n.567T>G
n.881T>G
c.2478T>G (p.Val826=)
7g.94423038G>ACA162937984COL1A2c.2485G>A (p.Gly829Ser)
n.568G>A
n.882G>A
c.2479G>A (p.Gly827Ser)
 dbSNP
7g.94423038G>CCA368224021COL1A2c.2485G>C (p.Gly829Arg)
n.568G>C
n.882G>C
c.2479G>C (p.Gly827Arg)
7g.94423038G=CA1726776697COL1A2c.2485G= (p.Gly829=)
n.568G=
n.882G=
c.2479G= (p.Gly827=)
7g.94423038G>TCA368224022COL1A2c.2485G>T (p.Gly829Cys)
n.568G>T
n.882G>T
c.2479G>T (p.Gly827Cys)
7g.94423039G>ACA368224023COL1A2c.2486G>A (p.Gly829Asp)
n.569G>A
n.883G>A
c.2480G>A (p.Gly827Asp)
 ClinVar COSMIC
7g.94423039G>CCA368224024COL1A2c.2486G>C (p.Gly829Ala)
n.569G>C
n.883G>C
c.2480G>C (p.Gly827Ala)
7g.94423039G>TCA368224025COL1A2c.2486G>T (p.Gly829Val)
n.569G>T
n.883G>T
c.2480G>T (p.Gly827Val)
 COSMIC
7g.94423040C>ACA456489617COL1A2c.2487C>A (p.Gly829=)
n.570C>A
n.884C>A
c.2481C>A (p.Gly827=)
 COSMIC
7g.94423040C>GCA456489618COL1A2c.2487C>G (p.Gly829=)
n.570C>G
n.884C>G
c.2481C>G (p.Gly827=)
7g.94423040C>TCA456489619COL1A2c.2487C>T (p.Gly829=)
n.570C>T
n.884C>T
c.2481C>T (p.Gly827=)
 gnomAD v4 COSMIC
7g.94423041C>ACA456489620COL1A2c.2488C>A (p.Arg830=)
n.571C>A
n.885C>A
c.2482C>A (p.Arg828=)
7g.94423041C=CA1726776701COL1A2c.2488C= (p.Arg830=)
n.571C=
n.885C=
c.2482C= (p.Arg828=)
7g.94423041C>GCA162937990COL1A2c.2488C>G (p.Arg830Gly)
n.571C>G
n.885C>G
c.2482C>G (p.Arg828Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94423041C>TCA162937987COL1A2c.2488C>T (p.Arg830Ter)
n.571C>T
n.885C>T
c.2482C>T (p.Arg828Ter)
 ClinVar dbSNP gnomAD v4
7g.94423041_94423043delCA2776986519COL1A2c.2488_2490del (p.Arg830del)
n.571_573del
n.885_887del
c.2482_2484del (p.Arg828del)
7g.94423042G>ACA4347460COL1A2c.2489G>A (p.Arg830Gln)
n.572G>A
n.886G>A
c.2483G>A (p.Arg828Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94423042G>CCA368224027COL1A2c.2489G>C (p.Arg830Pro)
n.572G>C
n.886G>C
c.2483G>C (p.Arg828Pro)
7g.94423042G=CA1726776709COL1A2c.2489G= (p.Arg830=)
n.572G=
n.886G=
c.2483G= (p.Arg828=)
7g.94423042G>TCA368224026COL1A2c.2489G>T (p.Arg830Leu)
n.572G>T
n.886G>T
c.2483G>T (p.Arg828Leu)
 COSMIC
7g.94423043A>CCA456489621COL1A2c.2490A>C (p.Arg830=)
n.573A>C
n.887A>C
c.2484A>C (p.Arg828=)
7g.94423043A>GCA456489622COL1A2c.2490A>G (p.Arg830=)
n.573A>G
n.887A>G
c.2484A>G (p.Arg828=)
7g.94423043A>TCA456489623COL1A2c.2490A>T (p.Arg830=)
n.573A>T
n.887A>T
c.2484A>T (p.Arg828=)
7g.94423044A=CA1726776718COL1A2c.2491A= (p.Thr831=)
n.574A=
n.888A=
c.2485A= (p.Thr829=)
7g.94423044A>CCA4347461COL1A2c.2491A>C (p.Thr831Pro)
n.574A>C
n.888A>C
c.2485A>C (p.Thr829Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94423044A>GCA368224028COL1A2c.2491A>G (p.Thr831Ala)
n.574A>G
n.888A>G
c.2485A>G (p.Thr829Ala)
 gnomAD v4
7g.94423044A>TCA368224029COL1A2c.2491A>T (p.Thr831Ser)
n.574A>T
n.888A>T
c.2485A>T (p.Thr829Ser)
7g.94423045C>ACA368224030COL1A2c.2492C>A (p.Thr831Asn)
n.575C>A
n.889C>A
c.2486C>A (p.Thr829Asn)
 dbSNP
7g.94423045C=CA1726776722COL1A2c.2492C= (p.Thr831=)
n.575C=
n.889C=
c.2486C= (p.Thr829=)
7g.94423045C>GCA4347462COL1A2c.2492C>G (p.Thr831Ser)
n.575C>G
n.889C>G
c.2486C>G (p.Thr829Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94423045C>TCA368224031COL1A2c.2492C>T (p.Thr831Ile)
n.575C>T
n.889C>T
c.2486C>T (p.Thr829Ile)
7g.94423046delCA2683772111COL1A2c.2493del (p.Gly832GlufsTer3)
n.576del
n.890del
c.2487del (p.Gly830GlufsTer3)
 gnomAD v4
7g.94423046T>ACA456489624COL1A2c.2493T>A (p.Thr831=)
n.576T>A
n.890T>A
c.2487T>A (p.Thr829=)
7g.94423046T>CCA456489625COL1A2c.2493T>C (p.Thr831=)
n.576T>C
n.890T>C
c.2487T>C (p.Thr829=)
7g.94423046T>GCA456489626COL1A2c.2493T>G (p.Thr831=)
n.576T>G
n.890T>G
c.2487T>G (p.Thr829=)
7g.94423047G>ACA368224032COL1A2c.2494G>A (p.Gly832Arg)
n.577G>A
n.891G>A
c.2488G>A (p.Gly830Arg)
 dbSNP
7g.94423047G>CCA368224033COL1A2c.2494G>C (p.Gly832Arg)
n.577G>C
n.891G>C
c.2488G>C (p.Gly830Arg)
7g.94423047G=CA1726776733COL1A2c.2494G= (p.Gly832=)
n.577G=
n.891G=
c.2488G= (p.Gly830=)
7g.94423047G>TCA368224034COL1A2c.2494G>T (p.Gly832Ter)
n.577G>T
n.891G>T
c.2488G>T (p.Gly830Ter)
7g.94423047_94423048delCA2776986521COL1A2c.2494_2495del (p.Gly832ArgfsTer13)
n.577_578del
n.891_892del
c.2488_2489del (p.Gly830ArgfsTer13)
7g.94423048G>ACA368224035COL1A2c.2495G>A (p.Gly832Glu)
n.578G>A
n.892G>A
c.2489G>A (p.Gly830Glu)
 ClinVar
7g.94423048G>CCA368224036COL1A2c.2495G>C (p.Gly832Ala)
n.578G>C
n.892G>C
c.2489G>C (p.Gly830Ala)
 gnomAD v4
7g.94423048G>TCA368224037COL1A2c.2495G>T (p.Gly832Val)
n.578G>T
n.892G>T
c.2489G>T (p.Gly830Val)
7g.94423049A>CCA456489627COL1A2c.2496A>C (p.Gly832=)
n.579A>C
n.893A>C
c.2490A>C (p.Gly830=)
7g.94423049A>GCA456489628COL1A2c.2496A>G (p.Gly832=)
n.579A>G
n.893A>G
c.2490A>G (p.Gly830=)
7g.94423049A>TCA456489629COL1A2c.2496A>T (p.Gly832=)
n.579A>T
n.893A>T
c.2490A>T (p.Gly830=)
7g.94423050G>ACA368224039COL1A2c.2497G>A (p.Glu833Lys)
n.580G>A
n.894G>A
c.2491G>A (p.Glu831Lys)
7g.94423050G>CCA368224040COL1A2c.2497G>C (p.Glu833Gln)
n.580G>C
n.894G>C
c.2491G>C (p.Glu831Gln)
7g.94423050G>TCA368224038COL1A2c.2497G>T (p.Glu833Ter)
n.580G>T
n.894G>T
c.2491G>T (p.Glu831Ter)
7g.94423051A>CCA368224041COL1A2c.2498A>C (p.Glu833Ala)
n.581A>C
n.895A>C
c.2492A>C (p.Glu831Ala)
7g.94423051A>GCA368224042COL1A2c.2498A>G (p.Glu833Gly)
n.581A>G
n.895A>G
c.2492A>G (p.Glu831Gly)
7g.94423051A>TCA368224043COL1A2c.2498A>T (p.Glu833Val)
n.581A>T
n.895A>T
c.2492A>T (p.Glu831Val)
7g.94423052A>CCA368224044COL1A2c.2499A>C (p.Glu833Asp)
n.582A>C
n.896A>C
c.2493A>C (p.Glu831Asp)
7g.94423052A>GCA456489630COL1A2c.2499A>G (p.Glu833=)
n.582A>G
n.896A>G
c.2493A>G (p.Glu831=)
7g.94423052A>TCA368224045COL1A2c.2499A>T (p.Glu833Asp)
n.582A>T
n.896A>T
c.2493A>T (p.Glu831Asp)
7g.94423053G>ACA4347463COL1A2c.2500G>A (p.Val834Ile)
n.583G>A
n.897G>A
c.2494G>A (p.Val832Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423053G>CCA368224047COL1A2c.2500G>C (p.Val834Leu)
n.583G>C
n.897G>C
c.2494G>C (p.Val832Leu)
7g.94423053G=CA1726776740COL1A2c.2500G= (p.Val834=)
n.583G=
n.897G=
c.2494G= (p.Val832=)
7g.94423053G>TCA368224046COL1A2c.2500G>T (p.Val834Leu)
n.583G>T
n.897G>T
c.2494G>T (p.Val832Leu)
7g.94423054T>ACA368224048COL1A2c.2501T>A (p.Val834Glu)
n.584T>A
n.898T>A
c.2495T>A (p.Val832Glu)
7g.94423054T>CCA368224049COL1A2c.2501T>C (p.Val834Ala)
n.584T>C
n.898T>C
c.2495T>C (p.Val832Ala)
 gnomAD v4
7g.94423054T>GCA368224050COL1A2c.2501T>G (p.Val834Gly)
n.584T>G
n.898T>G
c.2495T>G (p.Val832Gly)
7g.94423055A>CCA456489631COL1A2c.2502A>C (p.Val834=)
n.585A>C
n.899A>C
c.2496A>C (p.Val832=)
7g.94423055A>GCA456489632COL1A2c.2502A>G (p.Val834=)
n.585A>G
n.899A>G
c.2496A>G (p.Val832=)
7g.94423055A>TCA456489633COL1A2c.2502A>T (p.Val834=)
n.585A>T
n.899A>T
c.2496A>T (p.Val832=)
7g.94423056G>ACA162938021COL1A2c.2503G>A (p.Gly835Ser)
n.586G>A
n.900G>A
c.2497G>A (p.Gly833Ser)
 ClinVar dbSNP COSMIC
7g.94423056G>CCA368224051COL1A2c.2503G>C (p.Gly835Arg)
n.586G>C
n.900G>C
c.2497G>C (p.Gly833Arg)
7g.94423056G=CA1726776749COL1A2c.2503G= (p.Gly835=)
n.586G=
n.900G=
c.2497G= (p.Gly833=)
7g.94423056G>TCA368224052COL1A2c.2503G>T (p.Gly835Cys)
n.586G>T
n.900G>T
c.2497G>T (p.Gly833Cys)
7g.94423057G>ACA368224053COL1A2c.2504G>A (p.Gly835Asp)
n.587G>A
n.901G>A
c.2498G>A (p.Gly833Asp)
 ClinVar dbSNP
7g.94423057G>CCA368224055COL1A2c.2504G>C (p.Gly835Ala)
n.587G>C
n.901G>C
c.2498G>C (p.Gly833Ala)
7g.94423057G>TCA368224054COL1A2c.2504G>T (p.Gly835Val)
n.587G>T
n.901G>T
c.2498G>T (p.Gly833Val)
 ClinVar
7g.94423058T>ACA4347464COL1A2c.2505T>A (p.Gly835=)
n.588T>A
n.902T>A
c.2499T>A (p.Gly833=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423058T>CCA456489635COL1A2c.2505T>C (p.Gly835=)
n.588T>C
n.902T>C
c.2499T>C (p.Gly833=)
7g.94423058T>GCA456489634COL1A2c.2505T>G (p.Gly835=)
n.588T>G
n.902T>G
c.2499T>G (p.Gly833=)
 gnomAD v4
7g.94423058T=CA1726776768COL1A2c.2505T= (p.Gly835=)
n.588T=
n.902T=
c.2499T= (p.Gly833=)
7g.94423059G>ACA4347465COL1A2c.2506G>A (p.Ala836Thr)
n.589G>A
n.903G>A
c.2500G>A (p.Ala834Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423059G>CCA368224056COL1A2c.2506G>C (p.Ala836Pro)
n.589G>C
n.903G>C
c.2500G>C (p.Ala834Pro)
7g.94423059G=CA1726776776COL1A2c.2506G= (p.Ala836=)
n.589G=
n.903G=
c.2500G= (p.Ala834=)
7g.94423059G>TCA368224057COL1A2c.2506G>T (p.Ala836Ser)
n.589G>T
n.903G>T
c.2500G>T (p.Ala834Ser)
7g.94423060C>ACA368224058COL1A2c.2507C>A (p.Ala836Glu)
n.590C>A
n.904C>A
c.2501C>A (p.Ala834Glu)
7g.94423060C>GCA368224059COL1A2c.2507C>G (p.Ala836Gly)
n.590C>G
n.904C>G
c.2501C>G (p.Ala834Gly)
7g.94423060C>TCA368224060COL1A2c.2507C>T (p.Ala836Val)
n.590C>T
n.904C>T
c.2501C>T (p.Ala834Val)
 COSMIC
7g.94423061A=CA1726776793COL1A2c.2508A= (p.Ala836=)
n.591A=
n.905A=
c.2502A= (p.Ala834=)
7g.94423061A>CCA4347466COL1A2c.2508A>C (p.Ala836=)
n.591A>C
n.905A>C
c.2502A>C (p.Ala834=)
 dbSNP ExAC gnomAD v2
7g.94423061A>GCA162938034COL1A2c.2508A>G (p.Ala836=)
n.591A>G
n.905A>G
c.2502A>G (p.Ala834=)
 ClinVar dbSNP gnomAD v4
7g.94423061A>TCA456489636COL1A2c.2508A>T (p.Ala836=)
n.591A>T
n.905A>T
c.2502A>T (p.Ala834=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94423062G>ACA368224061COL1A2c.2509G>A (p.Val837Ile)
n.592G>A
n.906G>A
c.2503G>A (p.Val835Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94423062G>CCA368224062COL1A2c.2509G>C (p.Val837Leu)
n.592G>C
n.906G>C
c.2503G>C (p.Val835Leu)
7g.94423062G=CA1726776802COL1A2c.2509G= (p.Val837=)
n.592G=
n.906G=
c.2503G= (p.Val835=)
7g.94423062G>TCA368224063COL1A2c.2509G>T (p.Val837Phe)
n.592G>T
n.906G>T
c.2503G>T (p.Val835Phe)
7g.94423063T>ACA368224066COL1A2c.2510T>A (p.Val837Asp)
n.593T>A
n.907T>A
c.2504T>A (p.Val835Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94423063T>CCA368224065COL1A2c.2510T>C (p.Val837Ala)
n.593T>C
n.907T>C
c.2504T>C (p.Val835Ala)
7g.94423063T>GCA368224064COL1A2c.2510T>G (p.Val837Gly)
n.593T>G
n.907T>G
c.2504T>G (p.Val835Gly)
7g.94423063T=CA1726776810COL1A2c.2510T= (p.Val837=)
n.593T=
n.907T=
c.2504T= (p.Val835=)
7g.94423064T>ACA456489637COL1A2c.2511T>A (p.Val837=)
n.594T>A
n.908T>A
c.2505T>A (p.Val835=)
7g.94423064T>CCA456489639COL1A2c.2511T>C (p.Val837=)
n.594T>C
n.908T>C
c.2505T>C (p.Val835=)
 gnomAD v4
7g.94423064T>GCA456489638COL1A2c.2511T>G (p.Val837=)
n.594T>G
n.908T>G
c.2505T>G (p.Val835=)
7g.94423065G>ACA10654759COL1A2c.2512G>A (p.Gly838Ser)
n.595G>A
n.909G>A
c.2506G>A (p.Gly836Ser)
 ClinVar dbSNP
7g.94423065G>CCA368224068COL1A2c.2512G>C (p.Gly838Arg)
n.595G>C
n.909G>C
c.2506G>C (p.Gly836Arg)
7g.94423065G=CA1726776824COL1A2c.2512G= (p.Gly838=)
n.595G=
n.909G=
c.2506G= (p.Gly836=)
7g.94423065G>TCA368224067COL1A2c.2512G>T (p.Gly838Cys)
n.595G>T
n.909G>T
c.2506G>T (p.Gly836Cys)
7g.94423066G>ACA368224069COL1A2c.2513G>A (p.Gly838Asp)
n.596G>A
n.910G>A
c.2507G>A (p.Gly836Asp)
7g.94423066G>CCA368224071COL1A2c.2513G>C (p.Gly838Ala)
n.596G>C
n.910G>C
c.2507G>C (p.Gly836Ala)
7g.94423066G>TCA368224070COL1A2c.2513G>T (p.Gly838Val)
n.596G>T
n.910G>T
c.2507G>T (p.Gly836Val)
7g.94423067T>ACA456489640COL1A2c.2514T>A (p.Gly838=)
n.597T>A
n.911T>A
c.2508T>A (p.Gly836=)
7g.94423067T>CCA456489641COL1A2c.2514T>C (p.Gly838=)
n.597T>C
n.911T>C
c.2508T>C (p.Gly836=)
7g.94423067T>GCA456489642COL1A2c.2514T>G (p.Gly838=)
n.597T>G
n.911T>G
c.2508T>G (p.Gly836=)
7g.94423068C>ACA368224072COL1A2c.2515C>A (p.Pro839Thr)
n.598C>A
n.912C>A
c.2509C>A (p.Pro837Thr)
7g.94423068C=CA1726776836COL1A2c.2515C= (p.Pro839=)
n.598C=
n.912C=
c.2509C= (p.Pro837=)
7g.94423068C>GCA368224073COL1A2c.2515C>G (p.Pro839Ala)
n.598C>G
n.912C>G
c.2509C>G (p.Pro837Ala)
7g.94423068C>TCA4347467COL1A2c.2515C>T (p.Pro839Ser)
n.598C>T
n.912C>T
c.2509C>T (p.Pro837Ser)
 ClinVar dbSNP ExAC gnomAD v2
7g.94423069C>ACA368224074COL1A2c.2516C>A (p.Pro839His)
n.599C>A
n.913C>A
c.2510C>A (p.Pro837His)
7g.94423069C=CA1726776843COL1A2c.2516C= (p.Pro839=)
n.599C=
n.913C=
c.2510C= (p.Pro837=)
7g.94423069C>GCA368224076COL1A2c.2516C>G (p.Pro839Arg)
n.599C>G
n.913C>G
c.2510C>G (p.Pro837Arg)
 dbSNP gnomAD v4
7g.94423069C>TCA368224075COL1A2c.2516C>T (p.Pro839Leu)
n.599C>T
n.913C>T
c.2510C>T (p.Pro837Leu)
7g.94423070C>ACA456489643COL1A2c.2517C>A (p.Pro839=)
n.600C>A
n.914C>A
c.2511C>A (p.Pro837=)
 dbSNP gnomAD v4
7g.94423070C=CA1726776850COL1A2c.2517C= (p.Pro839=)
n.600C=
n.914C=
c.2511C= (p.Pro837=)
7g.94423070C>GCA456489644COL1A2c.2517C>G (p.Pro839=)
n.600C>G
n.914C>G
c.2511C>G (p.Pro837=)
7g.94423070C>TCA456489645COL1A2c.2517C>T (p.Pro839=)
n.600C>T
n.914C>T
c.2511C>T (p.Pro837=)
 ClinVar gnomAD v4 COSMIC
7g.94423071C>ACA368224077COL1A2c.2518C>A (p.Pro840Thr)
n.601C>A
n.915C>A
c.2512C>A (p.Pro838Thr)
7g.94423071C>GCA368224078COL1A2c.2518C>G (p.Pro840Ala)
n.601C>G
n.915C>G
c.2512C>G (p.Pro838Ala)
7g.94423071C>TCA368224079COL1A2c.2518C>T (p.Pro840Ser)
n.601C>T
n.915C>T
c.2512C>T (p.Pro838Ser)
7g.94423072C>ACA368224080COL1A2c.2519C>A (p.Pro840His)
n.602C>A
n.916C>A
c.2513C>A (p.Pro838His)
7g.94423072C=CA1726776852COL1A2c.2519C= (p.Pro840=)
n.602C=
n.916C=
c.2513C= (p.Pro838=)
7g.94423072C>GCA368224081COL1A2c.2519C>G (p.Pro840Arg)
n.602C>G
n.916C>G
c.2513C>G (p.Pro838Arg)
7g.94423072C>TCA368224082COL1A2c.2519C>T (p.Pro840Leu)
n.602C>T
n.916C>T
c.2513C>T (p.Pro838Leu)
7g.94423073T>ACA456489646COL1A2c.2520T>A (p.Pro840=)
n.603T>A
n.917T>A
c.2514T>A (p.Pro838=)
 gnomAD v4
7g.94423073T>CCA456489647COL1A2c.2520T>C (p.Pro840=)
n.603T>C
n.917T>C
c.2514T>C (p.Pro838=)
 dbSNP gnomAD v3 gnomAD v4
7g.94423073T>GCA456489648COL1A2c.2520T>G (p.Pro840=)
n.603T>G
n.917T>G
c.2514T>G (p.Pro838=)
7g.94423073T=CA1726776857COL1A2c.2520T= (p.Pro840=)
n.603T=
n.917T=
c.2514T= (p.Pro838=)
7g.94423073_94423074delinsTGCA1726776859COL1A2c.2520_2521delinsTG (p.Pro840=)
n.603_604delinsTG
n.917_918delinsTG
c.2514_2515delinsTG (p.Pro838=)
7g.94423073_94423074dupCA918076055COL1A2c.2520_2521dup (p.Gly841ValfsTer?)
n.603_604dup
n.917_918dup
c.2514_2515dup (p.Gly839ValfsTer?)
 dbSNP
7g.94423073_94423075dupCA4347468COL1A2c.2520_2522dup (p.Gly841_Phe842insGly)
n.603_605dup
n.917_919dup
c.2514_2516dup (p.Gly839_Phe840insGly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423074G>ACA162938043COL1A2c.2521G>A (p.Gly841Ser)
n.604G>A
n.918G>A
c.2515G>A (p.Gly839Ser)
 ClinVar dbSNP COSMIC
7g.94423074G>CCA368224083COL1A2c.2521G>C (p.Gly841Arg)
n.604G>C
n.918G>C
c.2515G>C (p.Gly839Arg)
7g.94423074G=CA1726776877COL1A2c.2521G= (p.Gly841=)
n.604G=
n.918G=
c.2515G= (p.Gly839=)
7g.94423074G>TCA368224084COL1A2c.2521G>T (p.Gly841Cys)
n.604G>T
n.918G>T
c.2515G>T (p.Gly839Cys)
7g.94423075delCA918076057COL1A2c.2522del (p.Gly841AlafsTer?)
n.605del
n.919del
c.2516del (p.Gly839AlafsTer?)
 dbSNP
7g.94423075G>ACA368224085COL1A2c.2522G>A (p.Gly841Asp)
n.605G>A
n.919G>A
c.2516G>A (p.Gly839Asp)
7g.94423075G>CCA368224086COL1A2c.2522G>C (p.Gly841Ala)
n.605G>C
n.919G>C
c.2516G>C (p.Gly839Ala)
7g.94423075G>TCA368224087COL1A2c.2522G>T (p.Gly841Val)
n.605G>T
n.919G>T
c.2516G>T (p.Gly839Val)
7g.94423076C>ACA456489649COL1A2c.2523C>A (p.Gly841=)
n.606C>A
n.920C>A
c.2517C>A (p.Gly839=)
7g.94423076C>GCA456489650COL1A2c.2523C>G (p.Gly841=)
n.606C>G
n.920C>G
c.2517C>G (p.Gly839=)
7g.94423076C>TCA456489651COL1A2c.2523C>T (p.Gly841=)
n.606C>T
n.920C>T
c.2517C>T (p.Gly839=)
7g.94423077T>ACA368224090COL1A2c.2524T>A (p.Phe842Ile)
n.607T>A
n.921T>A
c.2518T>A (p.Phe840Ile)
7g.94423077T>CCA368224089COL1A2c.2524T>C (p.Phe842Leu)
n.607T>C
n.921T>C
c.2518T>C (p.Phe840Leu)
 ClinVar gnomAD v4
7g.94423077T>GCA368224088COL1A2c.2524T>G (p.Phe842Val)
n.607T>G
n.921T>G
c.2518T>G (p.Phe840Val)
 COSMIC
7g.94423078T>ACA368224091COL1A2c.2525T>A (p.Phe842Tyr)
n.608T>A
n.922T>A
c.2519T>A (p.Phe840Tyr)
7g.94423078T>CCA368224092COL1A2c.2525T>C (p.Phe842Ser)
n.608T>C
n.922T>C
c.2519T>C (p.Phe840Ser)
7g.94423078T>GCA368224093COL1A2c.2525T>G (p.Phe842Cys)
n.608T>G
n.922T>G
c.2519T>G (p.Phe840Cys)
7g.94423079C>ACA368224094COL1A2c.2526C>A (p.Phe842Leu)
n.609C>A
n.923C>A
c.2520C>A (p.Phe840Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.94423079C=CA1726776890COL1A2c.2526C= (p.Phe842=)
n.609C=
n.923C=
c.2520C= (p.Phe840=)
7g.94423079C>GCA368224095COL1A2c.2526C>G (p.Phe842Leu)
n.609C>G
n.923C>G
c.2520C>G (p.Phe840Leu)
7g.94423079C>TCA4347469COL1A2c.2526C>T (p.Phe842=)
n.609C>T
n.923C>T
c.2520C>T (p.Phe840=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94423080G>ACA4347470COL1A2c.2527G>A (p.Ala843Thr)
n.610G>A
n.924G>A
c.2521G>A (p.Ala841Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94423080G>CCA368224096COL1A2c.2527G>C (p.Ala843Pro)
n.610G>C
n.924G>C
c.2521G>C (p.Ala841Pro)
 dbSNP
7g.94423080G=CA1726776902COL1A2c.2527G= (p.Ala843=)
n.610G=
n.924G=
c.2521G= (p.Ala841=)
7g.94423080G>TCA368224097COL1A2c.2527G>T (p.Ala843Ser)
n.610G>T
n.924G>T
c.2521G>T (p.Ala841Ser)
7g.94423081C>ACA368224098COL1A2c.2528C>A (p.Ala843Asp)
n.611C>A
n.925C>A
c.2522C>A (p.Ala841Asp)
7g.94423081C>GCA368224099COL1A2c.2528C>G (p.Ala843Gly)
n.611C>G
n.925C>G
c.2522C>G (p.Ala841Gly)
7g.94423081C>TCA368224100COL1A2c.2528C>T (p.Ala843Val)
n.611C>T
n.925C>T
c.2522C>T (p.Ala841Val)
 gnomAD v4
7g.94423082T>ACA4347471COL1A2c.2529T>A (p.Ala843=)
n.612T>A
n.926T>A
c.2523T>A (p.Ala841=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423082T>CCA456489653COL1A2c.2529T>C (p.Ala843=)
n.612T>C
n.926T>C
c.2523T>C (p.Ala841=)
7g.94423082T>GCA456489652COL1A2c.2529T>G (p.Ala843=)
n.612T>G
n.926T>G
c.2523T>G (p.Ala841=)
7g.94423082T=CA1726776907COL1A2c.2529T= (p.Ala843=)
n.612T=
n.926T=
c.2523T= (p.Ala841=)
7g.94423083G>ACA368224103COL1A2c.2530G>A (p.Gly844Ser)
n.613G>A
n.927G>A
c.2524G>A (p.Gly842Ser)
7g.94423083G>CCA368224102COL1A2c.2530G>C (p.Gly844Arg)
n.613G>C
n.927G>C
c.2524G>C (p.Gly842Arg)
7g.94423083G>TCA368224101COL1A2c.2530G>T (p.Gly844Cys)
n.613G>T
n.927G>T
c.2524G>T (p.Gly842Cys)
7g.94423084G>ACA368224104COL1A2c.2531G>A (p.Gly844Asp)
n.614G>A
n.928G>A
c.2525G>A (p.Gly842Asp)
7g.94423084G>CCA16042607COL1A2c.2531G>C (p.Gly844Ala)
n.614G>C
n.928G>C
c.2525G>C (p.Gly842Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94423084G=CA1726776916COL1A2c.2531G= (p.Gly844=)
n.614G=
n.928G=
c.2525G= (p.Gly842=)
7g.94423084G>TCA368224105COL1A2c.2531G>T (p.Gly844Val)
n.614G>T
n.928G>T
c.2525G>T (p.Gly842Val)
7g.94423085T>ACA456489654COL1A2c.2532T>A (p.Gly844=)
n.615T>A
n.929T>A
c.2526T>A (p.Gly842=)
 gnomAD v4
7g.94423085T>CCA456489655COL1A2c.2532T>C (p.Gly844=)
n.615T>C
n.929T>C
c.2526T>C (p.Gly842=)
7g.94423085T>GCA456489656COL1A2c.2532T>G (p.Gly844=)
n.615T>G
n.929T>G
c.2526T>G (p.Gly842=)
 gnomAD v4
7g.94423085T=CA1726776932COL1A2c.2532T= (p.Gly844=)
n.615T=
n.929T=
c.2526T= (p.Gly842=)
7g.94423086G>ACA368224106COL1A2c.2533G>A (p.Glu845Lys)
n.616G>A
n.930G>A
c.2527G>A (p.Glu843Lys)
7g.94423086G>CCA368224107COL1A2c.2533G>C (p.Glu845Gln)
n.616G>C
n.930G>C
c.2527G>C (p.Glu843Gln)
7g.94423086G>TCA368224108COL1A2c.2533G>T (p.Glu845Ter)
n.616G>T
n.930G>T
c.2527G>T (p.Glu843Ter)
7g.94423086dupCA915945371COL1A2c.2533dup (p.Glu845GlyfsTer?)
n.616dup
n.930dup
c.2527dup (p.Glu843GlyfsTer?)
 ClinVar dbSNP
7g.94423087A>CCA368224111COL1A2c.2534A>C (p.Glu845Ala)
n.617A>C
n.931A>C
c.2528A>C (p.Glu843Ala)
7g.94423087A>GCA368224109COL1A2c.2534A>G (p.Glu845Gly)
n.617A>G
n.931A>G
c.2528A>G (p.Glu843Gly)
7g.94423087A>TCA368224110COL1A2c.2534A>T (p.Glu845Val)
n.617A>T
n.931A>T
c.2528A>T (p.Glu843Val)
7g.94423088G>ACA456489657COL1A2c.2535G>A (p.Glu845=)
n.618G>A
n.932G>A
c.2529G>A (p.Glu843=)
 dbSNP
7g.94423088G>CCA368224112COL1A2c.2535G>C (p.Glu845Asp)
n.618G>C
n.932G>C
c.2529G>C (p.Glu843Asp)
7g.94423088G=CA1726776947COL1A2c.2535G= (p.Glu845=)
n.618G=
n.932G=
c.2529G= (p.Glu843=)
7g.94423088G>TCA368224113COL1A2c.2535G>T (p.Glu845Asp)
n.618G>T
n.932G>T
c.2529G>T (p.Glu843Asp)
7g.94423089A=CA1726776952COL1A2c.2536A= (p.Lys846=)
n.619A=
n.933A=
c.2530A= (p.Lys844=)
7g.94423089A>CCA368224114COL1A2c.2536A>C (p.Lys846Gln)
n.619A>C
n.933A>C
c.2530A>C (p.Lys844Gln)
7g.94423089A>GCA368224115COL1A2c.2536A>G (p.Lys846Glu)
n.619A>G
n.933A>G
c.2530A>G (p.Lys844Glu)
7g.94423089A>TCA368224116COL1A2c.2536A>T (p.Lys846Ter)
n.619A>T
n.933A>T
c.2530A>T (p.Lys844Ter)
7g.94423089_94423090insGGACCA576707138COL1A2c.2536_2537insGGAC (p.Lys846ArgfsTer?)
n.619_620insGGAC
n.933_934insGGAC
c.2530_2531insGGAC (p.Lys844ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94423090A>CCA368224117COL1A2c.2537A>C (p.Lys846Thr)
n.620A>C
n.934A>C
c.2531A>C (p.Lys844Thr)
7g.94423090A>GCA368224119COL1A2c.2537A>G (p.Lys846Arg)
n.620A>G
n.934A>G
c.2531A>G (p.Lys844Arg)
 gnomAD v4
7g.94423090A>TCA368224118COL1A2c.2537A>T (p.Lys846Met)
n.620A>T
n.934A>T
c.2531A>T (p.Lys844Met)
7g.94423091G>ACA456489658COL1A2c.2538G>A (p.Lys846=)
n.621G>A
n.935G>A
c.2532G>A (p.Lys844=)
 gnomAD v4
7g.94423091G>CCA368224120COL1A2c.2538G>C (p.Lys846Asn)
n.621G>C
n.935G>C
c.2532G>C (p.Lys844Asn)
 COSMIC
7g.94423091G>TCA368224121COL1A2c.2538G>T (p.Lys846Asn)
n.621G>T
n.935G>T
c.2532G>T (p.Lys844Asn)
 gnomAD v4
7g.94423092G>ACA368224122COL1A2c.2539G>A (p.Gly847Ser)
n.622G>A
n.936G>A
c.2533G>A (p.Gly845Ser)
 ClinVar COSMIC
7g.94423092G>CCA162938065COL1A2c.2539G>C (p.Gly847Arg)
n.622G>C
n.936G>C
c.2533G>C (p.Gly845Arg)
 dbSNP
7g.94423092G=CA1726776956COL1A2c.2539G= (p.Gly847=)
n.622G=
n.936G=
c.2533G= (p.Gly845=)
7g.94423092G>TCA368224123COL1A2c.2539G>T (p.Gly847Cys)
n.622G>T
n.936G>T
c.2533G>T (p.Gly845Cys)
7g.94423093G>ACA368224124COL1A2c.2540G>A (p.Gly847Asp)
n.623G>A
n.937G>A
c.2534G>A (p.Gly845Asp)
7g.94423093G>CCA368224125COL1A2c.2540G>C (p.Gly847Ala)
n.623G>C
n.937G>C
c.2534G>C (p.Gly845Ala)
7g.94423093G>TCA368224126COL1A2c.2540G>T (p.Gly847Val)
n.623G>T
n.937G>T
c.2534G>T (p.Gly845Val)
7g.94423094T>ACA456489659COL1A2c.2541T>A (p.Gly847=)
n.624T>A
n.938T>A
c.2535T>A (p.Gly845=)
7g.94423094T>CCA456489660COL1A2c.2541T>C (p.Gly847=)
n.624T>C
n.938T>C
c.2535T>C (p.Gly845=)
7g.94423094T>GCA456489661COL1A2c.2541T>G (p.Gly847=)
n.624T>G
n.938T>G
c.2535T>G (p.Gly845=)
7g.94423094dupCA2578942135COL1A2c.2541dup (p.Pro848SerfsTer?)
n.624dup
n.938dup
c.2535dup (p.Pro846SerfsTer?)
7g.94423095C>ACA4347472COL1A2c.2542C>A (p.Pro848Thr)
n.625C>A
n.939C>A
c.2536C>A (p.Pro846Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423095C=CA1726776964COL1A2c.2542C= (p.Pro848=)
n.625C=
n.939C=
c.2536C= (p.Pro846=)
7g.94423095C>GCA368224127COL1A2c.2542C>G (p.Pro848Ala)
n.625C>G
n.939C>G
c.2536C>G (p.Pro846Ala)
7g.94423095C>TCA368224128COL1A2c.2542C>T (p.Pro848Ser)
n.625C>T
n.939C>T
c.2536C>T (p.Pro846Ser)
 gnomAD v4
7g.94423095_94423096delinsTTCA2695208041COL1A2c.2542_2543delinsTT (p.Pro848Phe)
n.625_626delinsTT
n.939_940delinsTT
c.2536_2537delinsTT (p.Pro846Phe)
7g.94423096C>ACA368224129COL1A2c.2543C>A (p.Pro848His)
n.626C>A
n.940C>A
c.2537C>A (p.Pro846His)
7g.94423096C>GCA368224131COL1A2c.2543C>G (p.Pro848Arg)
n.626C>G
n.940C>G
c.2537C>G (p.Pro846Arg)
7g.94423096C>TCA368224130COL1A2c.2543C>T (p.Pro848Leu)
n.626C>T
n.940C>T
c.2537C>T (p.Pro846Leu)
 gnomAD v4 COSMIC
7g.94423096_94423102delCA2776986529COL1A2c.2543_2549del (p.Pro848GlnfsTer?)
n.626_632del
n.940_946del
c.2537_2543del (p.Pro846GlnfsTer?)
7g.94423097C>ACA162938073COL1A2c.2544C>A (p.Pro848=)
n.627C>A
n.941C>A
c.2538C>A (p.Pro846=)
 dbSNP gnomAD v3 gnomAD v4
7g.94423097C=CA1726776968COL1A2c.2544C= (p.Pro848=)
n.627C=
n.941C=
c.2538C= (p.Pro846=)
7g.94423097C>GCA456489662COL1A2c.2544C>G (p.Pro848=)
n.627C>G
n.941C>G
c.2538C>G (p.Pro846=)
7g.94423097C>TCA456489663COL1A2c.2544C>T (p.Pro848=)
n.627C>T
n.941C>T
c.2538C>T (p.Pro846=)
7g.94423098T>ACA368224132COL1A2c.2545T>A (p.Ser849Thr)
n.628T>A
n.942T>A
c.2539T>A (p.Ser847Thr)
7g.94423098T>CCA368224133COL1A2c.2545T>C (p.Ser849Pro)
n.628T>C
n.942T>C
c.2539T>C (p.Ser847Pro)
 gnomAD v4
7g.94423098T>GCA368224134COL1A2c.2545T>G (p.Ser849Ala)
n.628T>G
n.942T>G
c.2539T>G (p.Ser847Ala)
 gnomAD v4
7g.94423099C>ACA368224135COL1A2c.2546C>A (p.Ser849Tyr)
n.629C>A
n.943C>A
c.2540C>A (p.Ser847Tyr)
7g.94423099C>GCA368224136COL1A2c.2546C>G (p.Ser849Cys)
n.629C>G
n.943C>G
c.2540C>G (p.Ser847Cys)
 COSMIC
7g.94423099C>TCA368224137COL1A2c.2546C>T (p.Ser849Phe)
n.629C>T
n.943C>T
c.2540C>T (p.Ser847Phe)
7g.94423100T>ACA456489664COL1A2c.2547T>A (p.Ser849=)
n.630T>A
n.944T>A
c.2541T>A (p.Ser847=)
7g.94423100T>CCA456489665COL1A2c.2547T>C (p.Ser849=)
n.630T>C
n.944T>C
c.2541T>C (p.Ser847=)
7g.94423100T>GCA456489666COL1A2c.2547T>G (p.Ser849=)
n.630T>G
n.944T>G
c.2541T>G (p.Ser847=)
7g.94423101G>ACA368224138COL1A2c.2548G>A (p.Gly850Arg)
n.631G>A
n.945G>A
c.2542G>A (p.Gly848Arg)
7g.94423101G>CCA368224140COL1A2c.2548G>C (p.Gly850Arg)
n.631G>C
n.945G>C
c.2542G>C (p.Gly848Arg)
7g.94423101G>TCA368224139COL1A2c.2548G>T (p.Gly850Ter)
n.631G>T
n.945G>T
c.2542G>T (p.Gly848Ter)
7g.94423102G>ACA16043430COL1A2c.2549G>A (p.Gly850Glu)
n.632G>A
n.946G>A
c.2543G>A (p.Gly848Glu)
 ClinVar dbSNP
7g.94423102G>CCA368224141COL1A2c.2549G>C (p.Gly850Ala)
n.632G>C
n.946G>C
c.2543G>C (p.Gly848Ala)
 dbSNP gnomAD v4
7g.94423102G=CA1726776973COL1A2c.2549G= (p.Gly850=)
n.632G=
n.946G=
c.2543G= (p.Gly848=)
7g.94423102G>TCA368224142COL1A2c.2549G>T (p.Gly850Val)
n.632G>T
n.946G>T
c.2543G>T (p.Gly848Val)
7g.94423103A=CA1726776977COL1A2c.2550A= (p.Gly850=)
n.633A=
n.947A=
c.2544A= (p.Gly848=)
7g.94423103A>CCA456489667COL1A2c.2550A>C (p.Gly850=)
n.633A>C
n.947A>C
c.2544A>C (p.Gly848=)
7g.94423103A>GCA456489668COL1A2c.2550A>G (p.Gly850=)
n.633A>G
n.947A>G
c.2544A>G (p.Gly848=)
 ClinVar
7g.94423103A>TCA4347473COL1A2c.2550A>T (p.Gly850=)
n.633A>T
n.947A>T
c.2544A>T (p.Gly848=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423104G>ACA368224143COL1A2c.2551G>A (p.Glu851Lys)
n.634G>A
n.948G>A
c.2545G>A (p.Glu849Lys)
7g.94423104G>CCA368224145COL1A2c.2551G>C (p.Glu851Gln)
n.634G>C
n.948G>C
c.2545G>C (p.Glu849Gln)
7g.94423104G>TCA368224144COL1A2c.2551G>T (p.Glu851Ter)
n.634G>T
n.948G>T
c.2545G>T (p.Glu849Ter)
7g.94423105A>CCA368224146COL1A2c.2552A>C (p.Glu851Ala)
n.635A>C
n.949A>C
c.2546A>C (p.Glu849Ala)
7g.94423105A>GCA368224147COL1A2c.2552A>G (p.Glu851Gly)
n.635A>G
n.949A>G
c.2546A>G (p.Glu849Gly)
7g.94423105A>TCA368224148COL1A2c.2552A>T (p.Glu851Val)
n.635A>T
n.949A>T
c.2546A>T (p.Glu849Val)
7g.94423106G>ACA456489669COL1A2c.2553G>A (p.Glu851=)
n.636G>A
n.950G>A
c.2547G>A (p.Glu849=)
 ClinVar dbSNP
7g.94423106G>CCA368224149COL1A2c.2553G>C (p.Glu851Asp)
n.636G>C
n.950G>C
c.2547G>C (p.Glu849Asp)
7g.94423106G=CA1726776982COL1A2c.2553G= (p.Glu851=)
n.636G=
n.950G=
c.2547G= (p.Glu849=)
7g.94423106G>TCA368224150COL1A2c.2553G>T (p.Glu851Asp)
n.636G>T
n.950G>T
c.2547G>T (p.Glu849Asp)
 dbSNP gnomAD v2 gnomAD v4
7g.94423107G>ACA4347475COL1A2c.2554G>A (p.Ala852Thr)
n.637G>A
n.951G>A
c.2548G>A (p.Ala850Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423107G>CCA368224151COL1A2c.2554G>C (p.Ala852Pro)
n.637G>C
n.951G>C
c.2548G>C (p.Ala850Pro)
7g.94423107G=CA1726776988COL1A2c.2554G= (p.Ala852=)
n.637G=
n.951G=
c.2548G= (p.Ala850=)
7g.94423107G>TCA4347474COL1A2c.2554G>T (p.Ala852Ser)
n.637G>T
n.951G>T
c.2548G>T (p.Ala850Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.94423108C>ACA368224152COL1A2c.2555C>A (p.Ala852Asp)
n.638C>A
n.952C>A
c.2549C>A (p.Ala850Asp)
7g.94423108C>GCA368224153COL1A2c.2555C>G (p.Ala852Gly)
n.638C>G
n.952C>G
c.2549C>G (p.Ala850Gly)
7g.94423108C>TCA368224154COL1A2c.2555C>T (p.Ala852Val)
n.638C>T
n.952C>T
c.2549C>T (p.Ala850Val)
7g.94423108_94423109insACATCA2776986536COL1A2c.2555_2556insACAT (p.Gly853HisfsTer30)
n.638_639insACAT
n.952_953insACAT
c.2549_2550insACAT (p.Gly851HisfsTer30)
7g.94423109T>ACA456489670COL1A2c.2556T>A (p.Ala852=)
n.639T>A
n.953T>A
c.2550T>A (p.Ala850=)
7g.94423109T>CCA456489671COL1A2c.2556T>C (p.Ala852=)
n.639T>C
n.953T>C
c.2550T>C (p.Ala850=)
7g.94423109T>GCA456489672COL1A2c.2556T>G (p.Ala852=)
n.639T>G
n.953T>G
c.2550T>G (p.Ala850=)
7g.94423110_94423120dupCA2683772112COL1A2c.2557_2565+2dup
n.640_650dup
c.2551_2559+2dup
 gnomAD v4
7g.94423110G>ACA368224155COL1A2c.2557G>A (p.Gly853Ser)
n.640G>A
n.954G>A
c.2551G>A (p.Gly851Ser)
 gnomAD v4
7g.94423110G>CCA368224157COL1A2c.2557G>C (p.Gly853Arg)
n.640G>C
n.954G>C
c.2551G>C (p.Gly851Arg)
7g.94423110G>TCA368224156COL1A2c.2557G>T (p.Gly853Cys)
n.640G>T
n.954G>T
c.2551G>T (p.Gly851Cys)
7g.94423111G>ACA368224158COL1A2c.2558G>A (p.Gly853Asp)
n.641G>A
n.955G>A
c.2552G>A (p.Gly851Asp)
7g.94423111G>CCA368224159COL1A2c.2558G>C (p.Gly853Ala)
n.641G>C
n.955G>C
c.2552G>C (p.Gly851Ala)
 ClinVar gnomAD v4
7g.94423111G=CA1726776994COL1A2c.2558G= (p.Gly853=)
n.641G=
n.955G=
c.2552G= (p.Gly851=)
7g.94423111G>TCA162938084COL1A2c.2558G>T (p.Gly853Val)
n.641G>T
n.955G>T
c.2552G>T (p.Gly851Val)
 dbSNP
7g.94423112T>ACA456489673COL1A2c.2559T>A (p.Gly853=)
n.642T>A
n.956T>A
c.2553T>A (p.Gly851=)
7g.94423112T>CCA456489674COL1A2c.2559T>C (p.Gly853=)
n.642T>C
n.956T>C
c.2553T>C (p.Gly851=)
7g.94423112T>GCA4347476COL1A2c.2559T>G (p.Gly853=)
n.642T>G
n.956T>G
c.2553T>G (p.Gly851=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94423112T=CA1726777001COL1A2c.2559T= (p.Gly853=)
n.642T=
n.956T=
c.2553T= (p.Gly851=)
7g.94423113A>CCA368224160COL1A2c.2560A>C (p.Thr854Pro)
n.643A>C
n.957A>C
c.2554A>C (p.Thr852Pro)
7g.94423113A>GCA368224161COL1A2c.2560A>G (p.Thr854Ala)
n.643A>G
n.957A>G
c.2554A>G (p.Thr852Ala)
7g.94423113A>TCA368224162COL1A2c.2560A>T (p.Thr854Ser)
n.643A>T
n.957A>T
c.2554A>T (p.Thr852Ser)
7g.94423114C>ACA368224163COL1A2c.2561C>A (p.Thr854Asn)
n.644C>A
n.958C>A
c.2555C>A (p.Thr852Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.94423114C=CA1726777006COL1A2c.2561C= (p.Thr854=)
n.644C=
n.958C=
c.2555C= (p.Thr852=)
7g.94423114C>GCA368224164COL1A2c.2561C>G (p.Thr854Ser)
n.644C>G
n.958C>G
c.2555C>G (p.Thr852Ser)
7g.94423114C>TCA368224165COL1A2c.2561C>T (p.Thr854Ile)
n.644C>T
n.958C>T
c.2555C>T (p.Thr852Ile)
7g.94423115T>ACA456489675COL1A2c.2562T>A (p.Thr854=)
n.645T>A
n.959T>A
c.2556T>A (p.Thr852=)
7g.94423115T>CCA456489676COL1A2c.2562T>C (p.Thr854=)
n.645T>C
n.959T>C
c.2556T>C (p.Thr852=)
 gnomAD v4
7g.94423115T>GCA456489677COL1A2c.2562T>G (p.Thr854=)
n.645T>G
n.959T>G
c.2556T>G (p.Thr852=)
7g.94423116G>ACA4347477COL1A2c.2563G>A (p.Ala855Thr)
n.646G>A
n.960G>A
c.2557G>A (p.Ala853Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423116G>CCA368224166COL1A2c.2563G>C (p.Ala855Pro)
n.646G>C
n.960G>C
c.2557G>C (p.Ala853Pro)
7g.94423116G=CA1726777014COL1A2c.2563G= (p.Ala855=)
n.646G=
n.960G=
c.2557G= (p.Ala853=)
7g.94423116G>TCA368224167COL1A2c.2563G>T (p.Ala855Ser)
n.646G>T
n.960G>T
c.2557G>T (p.Ala853Ser)
7g.94423117C>ACA368224168COL1A2c.2564C>A (p.Ala855Asp)
n.647C>A
n.961C>A
c.2558C>A (p.Ala853Asp)
7g.94423117C>GCA368224170COL1A2c.2564C>G (p.Ala855Gly)
n.647C>G
n.961C>G
c.2558C>G (p.Ala853Gly)
7g.94423117C>TCA368224169COL1A2c.2564C>T (p.Ala855Val)
n.647C>T
n.961C>T
c.2558C>T (p.Ala853Val)
7g.94423118T>ACA456489678COL1A2c.2565T>A (p.Ala855=)
n.648T>A
n.962T>A
c.2559T>A (p.Ala853=)
7g.94423118T>CCA456489679COL1A2c.2565T>C (p.Ala855=)
n.648T>C
n.962T>C
c.2559T>C (p.Ala853=)
7g.94423118T>GCA456489680COL1A2c.2565T>G (p.Ala855=)
n.648T>G
n.962T>G
c.2559T>G (p.Ala853=)
7g.94423118_94423122delinsTGTAACA1726777024COL1A2c.2565_2565+4delinsTGTAA
n.648_652delinsTGTAA
c.2559_2559+4delinsTGTAA
7g.94423119G>ACA162938093COL1A2c.2565+1G>A (n.2565+1G>A)
n.649G>A
c.2559+1G>A (n.2559+1G>A)
 ClinVar dbSNP
7g.94423119G>CCA368224171COL1A2c.2565+1G>C (n.2565+1G>C)
n.649G>C
c.2559+1G>C (n.2559+1G>C)
 ClinVar dbSNP
7g.94423119G=CA1726777034COL1A2c.2565+1G= (n.2565+1G=)
n.649G=
c.2559+1G= (n.2559+1G=)
7g.94423119G>TCA368224172COL1A2c.2565+1G>T (n.2565+1G>T)
n.649G>T
c.2559+1G>T (n.2559+1G>T)
7g.94423121_94423124delCA915945372COL1A2c.2565+3_2565+6del (n.2565+3_2565+6del)
n.651_654del
c.2559+3_2559+6del (n.2559+3_2559+6del)
 ClinVar dbSNP
7g.94423120T>ACA368224173COL1A2c.2565+2T>A (n.2565+2T>A)
n.650T>A
c.2559+2T>A (n.2559+2T>A)
 ClinVar dbSNP
7g.94423120T>CCA368224174COL1A2c.2565+2T>C (n.2565+2T>C)
n.650T>C
c.2559+2T>C (n.2559+2T>C)
7g.94423120T>GCA368224175COL1A2c.2565+2T>G (n.2565+2T>G)
n.650T>G
c.2559+2T>G (n.2559+2T>G)

Number of alleles fetched