Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94418886_94423301del | CA257749 | COL1A2 | c.2025+334_2565+183del c.2019+334_2559+183del | ClinVar |
7 | g.94423030G>A | CA368224009 | COL1A2 | c.2477G>A (p.Gly826Asp) n.560G>A n.874G>A c.2471G>A (p.Gly824Asp) | |
7 | g.94423030G>C | CA368224010 | COL1A2 | c.2477G>C (p.Gly826Ala) n.560G>C n.874G>C c.2471G>C (p.Gly824Ala) | |
7 | g.94423030G>T | CA368224011 | COL1A2 | c.2477G>T (p.Gly826Val) n.560G>T n.874G>T c.2471G>T (p.Gly824Val) | |
7 | g.94423031T>A | CA456489609 | COL1A2 | c.2478T>A (p.Gly826=) n.561T>A n.875T>A c.2472T>A (p.Gly824=) | |
7 | g.94423031T>C | CA456489610 | COL1A2 | c.2478T>C (p.Gly826=) n.561T>C n.875T>C c.2472T>C (p.Gly824=) | |
7 | g.94423031T>G | CA456489611 | COL1A2 | c.2478T>G (p.Gly826=) n.561T>G n.875T>G c.2472T>G (p.Gly824=) | |
7 | g.94423032C>A | CA368224012 | COL1A2 | c.2479C>A (p.Pro827Thr) n.562C>A n.876C>A c.2473C>A (p.Pro825Thr) | |
7 | g.94423032C= | CA1726776679 | COL1A2 | c.2479C= (p.Pro827=) n.562C= n.876C= c.2473C= (p.Pro825=) | |
7 | g.94423032C>G | CA368224013 | COL1A2 | c.2479C>G (p.Pro827Ala) n.562C>G n.876C>G c.2473C>G (p.Pro825Ala) | |
7 | g.94423032C>T | CA4347456 | COL1A2 | c.2479C>T (p.Pro827Ser) n.562C>T n.876C>T c.2473C>T (p.Pro825Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423033C>A | CA368224014 | COL1A2 | c.2480C>A (p.Pro827Gln) n.563C>A n.877C>A c.2474C>A (p.Pro825Gln) | |
7 | g.94423033C= | CA1726776684 | COL1A2 | c.2480C= (p.Pro827=) n.563C= n.877C= c.2474C= (p.Pro825=) | |
7 | g.94423033C>G | CA368224015 | COL1A2 | c.2480C>G (p.Pro827Arg) n.563C>G n.877C>G c.2474C>G (p.Pro825Arg) | |
7 | g.94423033C>T | CA4347457 | COL1A2 | c.2480C>T (p.Pro827Leu) n.563C>T n.877C>T c.2474C>T (p.Pro825Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94423034A= | CA1726776689 | COL1A2 | c.2481A= (p.Pro827=) n.564A= n.878A= c.2475A= (p.Pro825=) | |
7 | g.94423034A>C | CA4347458 | COL1A2 | c.2481A>C (p.Pro827=) n.564A>C n.878A>C c.2475A>C (p.Pro825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423034A>G | CA456489612 | COL1A2 | c.2481A>G (p.Pro827=) n.564A>G n.878A>G c.2475A>G (p.Pro825=) | |
7 | g.94423034A>T | CA456489613 | COL1A2 | c.2481A>T (p.Pro827=) n.564A>T n.878A>T c.2475A>T (p.Pro825=) | ClinVar |
7 | g.94423035G>A | CA368224017 | COL1A2 | c.2482G>A (p.Val828Ile) n.565G>A n.879G>A c.2476G>A (p.Val826Ile) | |
7 | g.94423035G>C | CA368224016 | COL1A2 | c.2482G>C (p.Val828Leu) n.565G>C n.879G>C c.2476G>C (p.Val826Leu) | gnomAD v4 |
7 | g.94423035G= | CA1726776693 | COL1A2 | c.2482G= (p.Val828=) n.565G= n.879G= c.2476G= (p.Val826=) | |
7 | g.94423035G>T | CA4347459 | COL1A2 | c.2482G>T (p.Val828Phe) n.565G>T n.879G>T c.2476G>T (p.Val826Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423036T>A | CA368224018 | COL1A2 | c.2483T>A (p.Val828Asp) n.566T>A n.880T>A c.2477T>A (p.Val826Asp) | |
7 | g.94423036T>C | CA368224019 | COL1A2 | c.2483T>C (p.Val828Ala) n.566T>C n.880T>C c.2477T>C (p.Val826Ala) | |
7 | g.94423036T>G | CA368224020 | COL1A2 | c.2483T>G (p.Val828Gly) n.566T>G n.880T>G c.2477T>G (p.Val826Gly) | |
7 | g.94423037T>A | CA456489614 | COL1A2 | c.2484T>A (p.Val828=) n.567T>A n.881T>A c.2478T>A (p.Val826=) | |
7 | g.94423037T>C | CA456489616 | COL1A2 | c.2484T>C (p.Val828=) n.567T>C n.881T>C c.2478T>C (p.Val826=) | |
7 | g.94423037T>G | CA456489615 | COL1A2 | c.2484T>G (p.Val828=) n.567T>G n.881T>G c.2478T>G (p.Val826=) | |
7 | g.94423038G>A | CA162937984 | COL1A2 | c.2485G>A (p.Gly829Ser) n.568G>A n.882G>A c.2479G>A (p.Gly827Ser) | dbSNP |
7 | g.94423038G>C | CA368224021 | COL1A2 | c.2485G>C (p.Gly829Arg) n.568G>C n.882G>C c.2479G>C (p.Gly827Arg) | |
7 | g.94423038G= | CA1726776697 | COL1A2 | c.2485G= (p.Gly829=) n.568G= n.882G= c.2479G= (p.Gly827=) | |
7 | g.94423038G>T | CA368224022 | COL1A2 | c.2485G>T (p.Gly829Cys) n.568G>T n.882G>T c.2479G>T (p.Gly827Cys) | |
7 | g.94423039G>A | CA368224023 | COL1A2 | c.2486G>A (p.Gly829Asp) n.569G>A n.883G>A c.2480G>A (p.Gly827Asp) | ClinVar COSMIC |
7 | g.94423039G>C | CA368224024 | COL1A2 | c.2486G>C (p.Gly829Ala) n.569G>C n.883G>C c.2480G>C (p.Gly827Ala) | |
7 | g.94423039G>T | CA368224025 | COL1A2 | c.2486G>T (p.Gly829Val) n.569G>T n.883G>T c.2480G>T (p.Gly827Val) | COSMIC |
7 | g.94423040C>A | CA456489617 | COL1A2 | c.2487C>A (p.Gly829=) n.570C>A n.884C>A c.2481C>A (p.Gly827=) | COSMIC |
7 | g.94423040C>G | CA456489618 | COL1A2 | c.2487C>G (p.Gly829=) n.570C>G n.884C>G c.2481C>G (p.Gly827=) | |
7 | g.94423040C>T | CA456489619 | COL1A2 | c.2487C>T (p.Gly829=) n.570C>T n.884C>T c.2481C>T (p.Gly827=) | gnomAD v4 COSMIC |
7 | g.94423041C>A | CA456489620 | COL1A2 | c.2488C>A (p.Arg830=) n.571C>A n.885C>A c.2482C>A (p.Arg828=) | |
7 | g.94423041C= | CA1726776701 | COL1A2 | c.2488C= (p.Arg830=) n.571C= n.885C= c.2482C= (p.Arg828=) | |
7 | g.94423041C>G | CA162937990 | COL1A2 | c.2488C>G (p.Arg830Gly) n.571C>G n.885C>G c.2482C>G (p.Arg828Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423041C>T | CA162937987 | COL1A2 | c.2488C>T (p.Arg830Ter) n.571C>T n.885C>T c.2482C>T (p.Arg828Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.94423041_94423043del | CA2776986519 | COL1A2 | c.2488_2490del (p.Arg830del) n.571_573del n.885_887del c.2482_2484del (p.Arg828del) | |
7 | g.94423042G>A | CA4347460 | COL1A2 | c.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 |
7 | g.94423042G>C | CA368224027 | COL1A2 | c.2489G>C (p.Arg830Pro) n.572G>C n.886G>C c.2483G>C (p.Arg828Pro) | |
7 | g.94423042G= | CA1726776709 | COL1A2 | c.2489G= (p.Arg830=) n.572G= n.886G= c.2483G= (p.Arg828=) | |
7 | g.94423042G>T | CA368224026 | COL1A2 | c.2489G>T (p.Arg830Leu) n.572G>T n.886G>T c.2483G>T (p.Arg828Leu) | COSMIC |
7 | g.94423043A>C | CA456489621 | COL1A2 | c.2490A>C (p.Arg830=) n.573A>C n.887A>C c.2484A>C (p.Arg828=) | |
7 | g.94423043A>G | CA456489622 | COL1A2 | c.2490A>G (p.Arg830=) n.573A>G n.887A>G c.2484A>G (p.Arg828=) | |
7 | g.94423043A>T | CA456489623 | COL1A2 | c.2490A>T (p.Arg830=) n.573A>T n.887A>T c.2484A>T (p.Arg828=) | |
7 | g.94423044A= | CA1726776718 | COL1A2 | c.2491A= (p.Thr831=) n.574A= n.888A= c.2485A= (p.Thr829=) | |
7 | g.94423044A>C | CA4347461 | COL1A2 | c.2491A>C (p.Thr831Pro) n.574A>C n.888A>C c.2485A>C (p.Thr829Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94423044A>G | CA368224028 | COL1A2 | c.2491A>G (p.Thr831Ala) n.574A>G n.888A>G c.2485A>G (p.Thr829Ala) | gnomAD v4 |
7 | g.94423044A>T | CA368224029 | COL1A2 | c.2491A>T (p.Thr831Ser) n.574A>T n.888A>T c.2485A>T (p.Thr829Ser) | |
7 | g.94423045C>A | CA368224030 | COL1A2 | c.2492C>A (p.Thr831Asn) n.575C>A n.889C>A c.2486C>A (p.Thr829Asn) | dbSNP |
7 | g.94423045C= | CA1726776722 | COL1A2 | c.2492C= (p.Thr831=) n.575C= n.889C= c.2486C= (p.Thr829=) | |
7 | g.94423045C>G | CA4347462 | COL1A2 | c.2492C>G (p.Thr831Ser) n.575C>G n.889C>G c.2486C>G (p.Thr829Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94423045C>T | CA368224031 | COL1A2 | c.2492C>T (p.Thr831Ile) n.575C>T n.889C>T c.2486C>T (p.Thr829Ile) | |
7 | g.94423046del | CA2683772111 | COL1A2 | c.2493del (p.Gly832GlufsTer3) n.576del n.890del c.2487del (p.Gly830GlufsTer3) | gnomAD v4 |
7 | g.94423046T>A | CA456489624 | COL1A2 | c.2493T>A (p.Thr831=) n.576T>A n.890T>A c.2487T>A (p.Thr829=) | |
7 | g.94423046T>C | CA456489625 | COL1A2 | c.2493T>C (p.Thr831=) n.576T>C n.890T>C c.2487T>C (p.Thr829=) | |
7 | g.94423046T>G | CA456489626 | COL1A2 | c.2493T>G (p.Thr831=) n.576T>G n.890T>G c.2487T>G (p.Thr829=) | |
7 | g.94423047G>A | CA368224032 | COL1A2 | c.2494G>A (p.Gly832Arg) n.577G>A n.891G>A c.2488G>A (p.Gly830Arg) | dbSNP |
7 | g.94423047G>C | CA368224033 | COL1A2 | c.2494G>C (p.Gly832Arg) n.577G>C n.891G>C c.2488G>C (p.Gly830Arg) | |
7 | g.94423047G= | CA1726776733 | COL1A2 | c.2494G= (p.Gly832=) n.577G= n.891G= c.2488G= (p.Gly830=) | |
7 | g.94423047G>T | CA368224034 | COL1A2 | c.2494G>T (p.Gly832Ter) n.577G>T n.891G>T c.2488G>T (p.Gly830Ter) | |
7 | g.94423047_94423048del | CA2776986521 | COL1A2 | c.2494_2495del (p.Gly832ArgfsTer13) n.577_578del n.891_892del c.2488_2489del (p.Gly830ArgfsTer13) | |
7 | g.94423048G>A | CA368224035 | COL1A2 | c.2495G>A (p.Gly832Glu) n.578G>A n.892G>A c.2489G>A (p.Gly830Glu) | ClinVar |
7 | g.94423048G>C | CA368224036 | COL1A2 | c.2495G>C (p.Gly832Ala) n.578G>C n.892G>C c.2489G>C (p.Gly830Ala) | gnomAD v4 |
7 | g.94423048G>T | CA368224037 | COL1A2 | c.2495G>T (p.Gly832Val) n.578G>T n.892G>T c.2489G>T (p.Gly830Val) | |
7 | g.94423049A>C | CA456489627 | COL1A2 | c.2496A>C (p.Gly832=) n.579A>C n.893A>C c.2490A>C (p.Gly830=) | |
7 | g.94423049A>G | CA456489628 | COL1A2 | c.2496A>G (p.Gly832=) n.579A>G n.893A>G c.2490A>G (p.Gly830=) | |
7 | g.94423049A>T | CA456489629 | COL1A2 | c.2496A>T (p.Gly832=) n.579A>T n.893A>T c.2490A>T (p.Gly830=) | |
7 | g.94423050G>A | CA368224039 | COL1A2 | c.2497G>A (p.Glu833Lys) n.580G>A n.894G>A c.2491G>A (p.Glu831Lys) | |
7 | g.94423050G>C | CA368224040 | COL1A2 | c.2497G>C (p.Glu833Gln) n.580G>C n.894G>C c.2491G>C (p.Glu831Gln) | |
7 | g.94423050G>T | CA368224038 | COL1A2 | c.2497G>T (p.Glu833Ter) n.580G>T n.894G>T c.2491G>T (p.Glu831Ter) | |
7 | g.94423051A>C | CA368224041 | COL1A2 | c.2498A>C (p.Glu833Ala) n.581A>C n.895A>C c.2492A>C (p.Glu831Ala) | |
7 | g.94423051A>G | CA368224042 | COL1A2 | c.2498A>G (p.Glu833Gly) n.581A>G n.895A>G c.2492A>G (p.Glu831Gly) | |
7 | g.94423051A>T | CA368224043 | COL1A2 | c.2498A>T (p.Glu833Val) n.581A>T n.895A>T c.2492A>T (p.Glu831Val) | |
7 | g.94423052A>C | CA368224044 | COL1A2 | c.2499A>C (p.Glu833Asp) n.582A>C n.896A>C c.2493A>C (p.Glu831Asp) | |
7 | g.94423052A>G | CA456489630 | COL1A2 | c.2499A>G (p.Glu833=) n.582A>G n.896A>G c.2493A>G (p.Glu831=) | |
7 | g.94423052A>T | CA368224045 | COL1A2 | c.2499A>T (p.Glu833Asp) n.582A>T n.896A>T c.2493A>T (p.Glu831Asp) | |
7 | g.94423053G>A | CA4347463 | COL1A2 | c.2500G>A (p.Val834Ile) n.583G>A n.897G>A c.2494G>A (p.Val832Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423053G>C | CA368224047 | COL1A2 | c.2500G>C (p.Val834Leu) n.583G>C n.897G>C c.2494G>C (p.Val832Leu) | |
7 | g.94423053G= | CA1726776740 | COL1A2 | c.2500G= (p.Val834=) n.583G= n.897G= c.2494G= (p.Val832=) | |
7 | g.94423053G>T | CA368224046 | COL1A2 | c.2500G>T (p.Val834Leu) n.583G>T n.897G>T c.2494G>T (p.Val832Leu) | |
7 | g.94423054T>A | CA368224048 | COL1A2 | c.2501T>A (p.Val834Glu) n.584T>A n.898T>A c.2495T>A (p.Val832Glu) | |
7 | g.94423054T>C | CA368224049 | COL1A2 | c.2501T>C (p.Val834Ala) n.584T>C n.898T>C c.2495T>C (p.Val832Ala) | gnomAD v4 |
7 | g.94423054T>G | CA368224050 | COL1A2 | c.2501T>G (p.Val834Gly) n.584T>G n.898T>G c.2495T>G (p.Val832Gly) | |
7 | g.94423055A>C | CA456489631 | COL1A2 | c.2502A>C (p.Val834=) n.585A>C n.899A>C c.2496A>C (p.Val832=) | |
7 | g.94423055A>G | CA456489632 | COL1A2 | c.2502A>G (p.Val834=) n.585A>G n.899A>G c.2496A>G (p.Val832=) | |
7 | g.94423055A>T | CA456489633 | COL1A2 | c.2502A>T (p.Val834=) n.585A>T n.899A>T c.2496A>T (p.Val832=) | |
7 | g.94423056G>A | CA162938021 | COL1A2 | c.2503G>A (p.Gly835Ser) n.586G>A n.900G>A c.2497G>A (p.Gly833Ser) | ClinVar dbSNP COSMIC |
7 | g.94423056G>C | CA368224051 | COL1A2 | c.2503G>C (p.Gly835Arg) n.586G>C n.900G>C c.2497G>C (p.Gly833Arg) | |
7 | g.94423056G= | CA1726776749 | COL1A2 | c.2503G= (p.Gly835=) n.586G= n.900G= c.2497G= (p.Gly833=) | |
7 | g.94423056G>T | CA368224052 | COL1A2 | c.2503G>T (p.Gly835Cys) n.586G>T n.900G>T c.2497G>T (p.Gly833Cys) | |
7 | g.94423057G>A | CA368224053 | COL1A2 | c.2504G>A (p.Gly835Asp) n.587G>A n.901G>A c.2498G>A (p.Gly833Asp) | ClinVar dbSNP |
7 | g.94423057G>C | CA368224055 | COL1A2 | c.2504G>C (p.Gly835Ala) n.587G>C n.901G>C c.2498G>C (p.Gly833Ala) | |
7 | g.94423057G>T | CA368224054 | COL1A2 | c.2504G>T (p.Gly835Val) n.587G>T n.901G>T c.2498G>T (p.Gly833Val) | ClinVar |
7 | g.94423058T>A | CA4347464 | COL1A2 | c.2505T>A (p.Gly835=) n.588T>A n.902T>A c.2499T>A (p.Gly833=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423058T>C | CA456489635 | COL1A2 | c.2505T>C (p.Gly835=) n.588T>C n.902T>C c.2499T>C (p.Gly833=) | |
7 | g.94423058T>G | CA456489634 | COL1A2 | c.2505T>G (p.Gly835=) n.588T>G n.902T>G c.2499T>G (p.Gly833=) | gnomAD v4 |
7 | g.94423058T= | CA1726776768 | COL1A2 | c.2505T= (p.Gly835=) n.588T= n.902T= c.2499T= (p.Gly833=) | |
7 | g.94423059G>A | CA4347465 | COL1A2 | c.2506G>A (p.Ala836Thr) n.589G>A n.903G>A c.2500G>A (p.Ala834Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423059G>C | CA368224056 | COL1A2 | c.2506G>C (p.Ala836Pro) n.589G>C n.903G>C c.2500G>C (p.Ala834Pro) | |
7 | g.94423059G= | CA1726776776 | COL1A2 | c.2506G= (p.Ala836=) n.589G= n.903G= c.2500G= (p.Ala834=) | |
7 | g.94423059G>T | CA368224057 | COL1A2 | c.2506G>T (p.Ala836Ser) n.589G>T n.903G>T c.2500G>T (p.Ala834Ser) | |
7 | g.94423060C>A | CA368224058 | COL1A2 | c.2507C>A (p.Ala836Glu) n.590C>A n.904C>A c.2501C>A (p.Ala834Glu) | |
7 | g.94423060C>G | CA368224059 | COL1A2 | c.2507C>G (p.Ala836Gly) n.590C>G n.904C>G c.2501C>G (p.Ala834Gly) | |
7 | g.94423060C>T | CA368224060 | COL1A2 | c.2507C>T (p.Ala836Val) n.590C>T n.904C>T c.2501C>T (p.Ala834Val) | COSMIC |
7 | g.94423061A= | CA1726776793 | COL1A2 | c.2508A= (p.Ala836=) n.591A= n.905A= c.2502A= (p.Ala834=) | |
7 | g.94423061A>C | CA4347466 | COL1A2 | c.2508A>C (p.Ala836=) n.591A>C n.905A>C c.2502A>C (p.Ala834=) | dbSNP ExAC gnomAD v2 |
7 | g.94423061A>G | CA162938034 | COL1A2 | c.2508A>G (p.Ala836=) n.591A>G n.905A>G c.2502A>G (p.Ala834=) | ClinVar dbSNP gnomAD v4 |
7 | g.94423061A>T | CA456489636 | COL1A2 | c.2508A>T (p.Ala836=) n.591A>T n.905A>T c.2502A>T (p.Ala834=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423062G>A | CA368224061 | COL1A2 | c.2509G>A (p.Val837Ile) n.592G>A n.906G>A c.2503G>A (p.Val835Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.94423062G>C | CA368224062 | COL1A2 | c.2509G>C (p.Val837Leu) n.592G>C n.906G>C c.2503G>C (p.Val835Leu) | |
7 | g.94423062G= | CA1726776802 | COL1A2 | c.2509G= (p.Val837=) n.592G= n.906G= c.2503G= (p.Val835=) | |
7 | g.94423062G>T | CA368224063 | COL1A2 | c.2509G>T (p.Val837Phe) n.592G>T n.906G>T c.2503G>T (p.Val835Phe) | |
7 | g.94423063T>A | CA368224066 | COL1A2 | c.2510T>A (p.Val837Asp) n.593T>A n.907T>A c.2504T>A (p.Val835Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423063T>C | CA368224065 | COL1A2 | c.2510T>C (p.Val837Ala) n.593T>C n.907T>C c.2504T>C (p.Val835Ala) | |
7 | g.94423063T>G | CA368224064 | COL1A2 | c.2510T>G (p.Val837Gly) n.593T>G n.907T>G c.2504T>G (p.Val835Gly) | |
7 | g.94423063T= | CA1726776810 | COL1A2 | c.2510T= (p.Val837=) n.593T= n.907T= c.2504T= (p.Val835=) | |
7 | g.94423064T>A | CA456489637 | COL1A2 | c.2511T>A (p.Val837=) n.594T>A n.908T>A c.2505T>A (p.Val835=) | |
7 | g.94423064T>C | CA456489639 | COL1A2 | c.2511T>C (p.Val837=) n.594T>C n.908T>C c.2505T>C (p.Val835=) | gnomAD v4 |
7 | g.94423064T>G | CA456489638 | COL1A2 | c.2511T>G (p.Val837=) n.594T>G n.908T>G c.2505T>G (p.Val835=) | |
7 | g.94423065G>A | CA10654759 | COL1A2 | c.2512G>A (p.Gly838Ser) n.595G>A n.909G>A c.2506G>A (p.Gly836Ser) | ClinVar dbSNP |
7 | g.94423065G>C | CA368224068 | COL1A2 | c.2512G>C (p.Gly838Arg) n.595G>C n.909G>C c.2506G>C (p.Gly836Arg) | |
7 | g.94423065G= | CA1726776824 | COL1A2 | c.2512G= (p.Gly838=) n.595G= n.909G= c.2506G= (p.Gly836=) | |
7 | g.94423065G>T | CA368224067 | COL1A2 | c.2512G>T (p.Gly838Cys) n.595G>T n.909G>T c.2506G>T (p.Gly836Cys) | |
7 | g.94423066G>A | CA368224069 | COL1A2 | c.2513G>A (p.Gly838Asp) n.596G>A n.910G>A c.2507G>A (p.Gly836Asp) | |
7 | g.94423066G>C | CA368224071 | COL1A2 | c.2513G>C (p.Gly838Ala) n.596G>C n.910G>C c.2507G>C (p.Gly836Ala) | |
7 | g.94423066G>T | CA368224070 | COL1A2 | c.2513G>T (p.Gly838Val) n.596G>T n.910G>T c.2507G>T (p.Gly836Val) | |
7 | g.94423067T>A | CA456489640 | COL1A2 | c.2514T>A (p.Gly838=) n.597T>A n.911T>A c.2508T>A (p.Gly836=) | |
7 | g.94423067T>C | CA456489641 | COL1A2 | c.2514T>C (p.Gly838=) n.597T>C n.911T>C c.2508T>C (p.Gly836=) | |
7 | g.94423067T>G | CA456489642 | COL1A2 | c.2514T>G (p.Gly838=) n.597T>G n.911T>G c.2508T>G (p.Gly836=) | |
7 | g.94423068C>A | CA368224072 | COL1A2 | c.2515C>A (p.Pro839Thr) n.598C>A n.912C>A c.2509C>A (p.Pro837Thr) | |
7 | g.94423068C= | CA1726776836 | COL1A2 | c.2515C= (p.Pro839=) n.598C= n.912C= c.2509C= (p.Pro837=) | |
7 | g.94423068C>G | CA368224073 | COL1A2 | c.2515C>G (p.Pro839Ala) n.598C>G n.912C>G c.2509C>G (p.Pro837Ala) | |
7 | g.94423068C>T | CA4347467 | COL1A2 | c.2515C>T (p.Pro839Ser) n.598C>T n.912C>T c.2509C>T (p.Pro837Ser) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.94423069C>A | CA368224074 | COL1A2 | c.2516C>A (p.Pro839His) n.599C>A n.913C>A c.2510C>A (p.Pro837His) | |
7 | g.94423069C= | CA1726776843 | COL1A2 | c.2516C= (p.Pro839=) n.599C= n.913C= c.2510C= (p.Pro837=) | |
7 | g.94423069C>G | CA368224076 | COL1A2 | c.2516C>G (p.Pro839Arg) n.599C>G n.913C>G c.2510C>G (p.Pro837Arg) | dbSNP gnomAD v4 |
7 | g.94423069C>T | CA368224075 | COL1A2 | c.2516C>T (p.Pro839Leu) n.599C>T n.913C>T c.2510C>T (p.Pro837Leu) | |
7 | g.94423070C>A | CA456489643 | COL1A2 | c.2517C>A (p.Pro839=) n.600C>A n.914C>A c.2511C>A (p.Pro837=) | dbSNP gnomAD v4 |
7 | g.94423070C= | CA1726776850 | COL1A2 | c.2517C= (p.Pro839=) n.600C= n.914C= c.2511C= (p.Pro837=) | |
7 | g.94423070C>G | CA456489644 | COL1A2 | c.2517C>G (p.Pro839=) n.600C>G n.914C>G c.2511C>G (p.Pro837=) | |
7 | g.94423070C>T | CA456489645 | COL1A2 | c.2517C>T (p.Pro839=) n.600C>T n.914C>T c.2511C>T (p.Pro837=) | ClinVar gnomAD v4 COSMIC |
7 | g.94423071C>A | CA368224077 | COL1A2 | c.2518C>A (p.Pro840Thr) n.601C>A n.915C>A c.2512C>A (p.Pro838Thr) | |
7 | g.94423071C>G | CA368224078 | COL1A2 | c.2518C>G (p.Pro840Ala) n.601C>G n.915C>G c.2512C>G (p.Pro838Ala) | |
7 | g.94423071C>T | CA368224079 | COL1A2 | c.2518C>T (p.Pro840Ser) n.601C>T n.915C>T c.2512C>T (p.Pro838Ser) | |
7 | g.94423072C>A | CA368224080 | COL1A2 | c.2519C>A (p.Pro840His) n.602C>A n.916C>A c.2513C>A (p.Pro838His) | |
7 | g.94423072C= | CA1726776852 | COL1A2 | c.2519C= (p.Pro840=) n.602C= n.916C= c.2513C= (p.Pro838=) | |
7 | g.94423072C>G | CA368224081 | COL1A2 | c.2519C>G (p.Pro840Arg) n.602C>G n.916C>G c.2513C>G (p.Pro838Arg) | |
7 | g.94423072C>T | CA368224082 | COL1A2 | c.2519C>T (p.Pro840Leu) n.602C>T n.916C>T c.2513C>T (p.Pro838Leu) | |
7 | g.94423073T>A | CA456489646 | COL1A2 | c.2520T>A (p.Pro840=) n.603T>A n.917T>A c.2514T>A (p.Pro838=) | gnomAD v4 |
7 | g.94423073T>C | CA456489647 | COL1A2 | c.2520T>C (p.Pro840=) n.603T>C n.917T>C c.2514T>C (p.Pro838=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94423073T>G | CA456489648 | COL1A2 | c.2520T>G (p.Pro840=) n.603T>G n.917T>G c.2514T>G (p.Pro838=) | |
7 | g.94423073T= | CA1726776857 | COL1A2 | c.2520T= (p.Pro840=) n.603T= n.917T= c.2514T= (p.Pro838=) | |
7 | g.94423073_94423074delinsTG | CA1726776859 | COL1A2 | c.2520_2521delinsTG (p.Pro840=) n.603_604delinsTG n.917_918delinsTG c.2514_2515delinsTG (p.Pro838=) | |
7 | g.94423073_94423074dup | CA918076055 | COL1A2 | c.2520_2521dup (p.Gly841ValfsTer?) n.603_604dup n.917_918dup c.2514_2515dup (p.Gly839ValfsTer?) | dbSNP |
7 | g.94423073_94423075dup | CA4347468 | COL1A2 | c.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 |
7 | g.94423074G>A | CA162938043 | COL1A2 | c.2521G>A (p.Gly841Ser) n.604G>A n.918G>A c.2515G>A (p.Gly839Ser) | ClinVar dbSNP COSMIC |
7 | g.94423074G>C | CA368224083 | COL1A2 | c.2521G>C (p.Gly841Arg) n.604G>C n.918G>C c.2515G>C (p.Gly839Arg) | |
7 | g.94423074G= | CA1726776877 | COL1A2 | c.2521G= (p.Gly841=) n.604G= n.918G= c.2515G= (p.Gly839=) | |
7 | g.94423074G>T | CA368224084 | COL1A2 | c.2521G>T (p.Gly841Cys) n.604G>T n.918G>T c.2515G>T (p.Gly839Cys) | |
7 | g.94423075del | CA918076057 | COL1A2 | c.2522del (p.Gly841AlafsTer?) n.605del n.919del c.2516del (p.Gly839AlafsTer?) | dbSNP |
7 | g.94423075G>A | CA368224085 | COL1A2 | c.2522G>A (p.Gly841Asp) n.605G>A n.919G>A c.2516G>A (p.Gly839Asp) | |
7 | g.94423075G>C | CA368224086 | COL1A2 | c.2522G>C (p.Gly841Ala) n.605G>C n.919G>C c.2516G>C (p.Gly839Ala) | |
7 | g.94423075G>T | CA368224087 | COL1A2 | c.2522G>T (p.Gly841Val) n.605G>T n.919G>T c.2516G>T (p.Gly839Val) | |
7 | g.94423076C>A | CA456489649 | COL1A2 | c.2523C>A (p.Gly841=) n.606C>A n.920C>A c.2517C>A (p.Gly839=) | |
7 | g.94423076C>G | CA456489650 | COL1A2 | c.2523C>G (p.Gly841=) n.606C>G n.920C>G c.2517C>G (p.Gly839=) | |
7 | g.94423076C>T | CA456489651 | COL1A2 | c.2523C>T (p.Gly841=) n.606C>T n.920C>T c.2517C>T (p.Gly839=) | |
7 | g.94423077T>A | CA368224090 | COL1A2 | c.2524T>A (p.Phe842Ile) n.607T>A n.921T>A c.2518T>A (p.Phe840Ile) | |
7 | g.94423077T>C | CA368224089 | COL1A2 | c.2524T>C (p.Phe842Leu) n.607T>C n.921T>C c.2518T>C (p.Phe840Leu) | ClinVar gnomAD v4 |
7 | g.94423077T>G | CA368224088 | COL1A2 | c.2524T>G (p.Phe842Val) n.607T>G n.921T>G c.2518T>G (p.Phe840Val) | COSMIC |
7 | g.94423078T>A | CA368224091 | COL1A2 | c.2525T>A (p.Phe842Tyr) n.608T>A n.922T>A c.2519T>A (p.Phe840Tyr) | |
7 | g.94423078T>C | CA368224092 | COL1A2 | c.2525T>C (p.Phe842Ser) n.608T>C n.922T>C c.2519T>C (p.Phe840Ser) | |
7 | g.94423078T>G | CA368224093 | COL1A2 | c.2525T>G (p.Phe842Cys) n.608T>G n.922T>G c.2519T>G (p.Phe840Cys) | |
7 | g.94423079C>A | CA368224094 | COL1A2 | c.2526C>A (p.Phe842Leu) n.609C>A n.923C>A c.2520C>A (p.Phe840Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94423079C= | CA1726776890 | COL1A2 | c.2526C= (p.Phe842=) n.609C= n.923C= c.2520C= (p.Phe840=) | |
7 | g.94423079C>G | CA368224095 | COL1A2 | c.2526C>G (p.Phe842Leu) n.609C>G n.923C>G c.2520C>G (p.Phe840Leu) | |
7 | g.94423079C>T | CA4347469 | COL1A2 | c.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 |
7 | g.94423080G>A | CA4347470 | COL1A2 | c.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 |
7 | g.94423080G>C | CA368224096 | COL1A2 | c.2527G>C (p.Ala843Pro) n.610G>C n.924G>C c.2521G>C (p.Ala841Pro) | dbSNP |
7 | g.94423080G= | CA1726776902 | COL1A2 | c.2527G= (p.Ala843=) n.610G= n.924G= c.2521G= (p.Ala841=) | |
7 | g.94423080G>T | CA368224097 | COL1A2 | c.2527G>T (p.Ala843Ser) n.610G>T n.924G>T c.2521G>T (p.Ala841Ser) | |
7 | g.94423081C>A | CA368224098 | COL1A2 | c.2528C>A (p.Ala843Asp) n.611C>A n.925C>A c.2522C>A (p.Ala841Asp) | |
7 | g.94423081C>G | CA368224099 | COL1A2 | c.2528C>G (p.Ala843Gly) n.611C>G n.925C>G c.2522C>G (p.Ala841Gly) | |
7 | g.94423081C>T | CA368224100 | COL1A2 | c.2528C>T (p.Ala843Val) n.611C>T n.925C>T c.2522C>T (p.Ala841Val) | gnomAD v4 |
7 | g.94423082T>A | CA4347471 | COL1A2 | c.2529T>A (p.Ala843=) n.612T>A n.926T>A c.2523T>A (p.Ala841=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423082T>C | CA456489653 | COL1A2 | c.2529T>C (p.Ala843=) n.612T>C n.926T>C c.2523T>C (p.Ala841=) | |
7 | g.94423082T>G | CA456489652 | COL1A2 | c.2529T>G (p.Ala843=) n.612T>G n.926T>G c.2523T>G (p.Ala841=) | |
7 | g.94423082T= | CA1726776907 | COL1A2 | c.2529T= (p.Ala843=) n.612T= n.926T= c.2523T= (p.Ala841=) | |
7 | g.94423083G>A | CA368224103 | COL1A2 | c.2530G>A (p.Gly844Ser) n.613G>A n.927G>A c.2524G>A (p.Gly842Ser) | |
7 | g.94423083G>C | CA368224102 | COL1A2 | c.2530G>C (p.Gly844Arg) n.613G>C n.927G>C c.2524G>C (p.Gly842Arg) | |
7 | g.94423083G>T | CA368224101 | COL1A2 | c.2530G>T (p.Gly844Cys) n.613G>T n.927G>T c.2524G>T (p.Gly842Cys) | |
7 | g.94423084G>A | CA368224104 | COL1A2 | c.2531G>A (p.Gly844Asp) n.614G>A n.928G>A c.2525G>A (p.Gly842Asp) | |
7 | g.94423084G>C | CA16042607 | COL1A2 | c.2531G>C (p.Gly844Ala) n.614G>C n.928G>C c.2525G>C (p.Gly842Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94423084G= | CA1726776916 | COL1A2 | c.2531G= (p.Gly844=) n.614G= n.928G= c.2525G= (p.Gly842=) | |
7 | g.94423084G>T | CA368224105 | COL1A2 | c.2531G>T (p.Gly844Val) n.614G>T n.928G>T c.2525G>T (p.Gly842Val) | |
7 | g.94423085T>A | CA456489654 | COL1A2 | c.2532T>A (p.Gly844=) n.615T>A n.929T>A c.2526T>A (p.Gly842=) | gnomAD v4 |
7 | g.94423085T>C | CA456489655 | COL1A2 | c.2532T>C (p.Gly844=) n.615T>C n.929T>C c.2526T>C (p.Gly842=) | |
7 | g.94423085T>G | CA456489656 | COL1A2 | c.2532T>G (p.Gly844=) n.615T>G n.929T>G c.2526T>G (p.Gly842=) | gnomAD v4 |
7 | g.94423085T= | CA1726776932 | COL1A2 | c.2532T= (p.Gly844=) n.615T= n.929T= c.2526T= (p.Gly842=) | |
7 | g.94423086G>A | CA368224106 | COL1A2 | c.2533G>A (p.Glu845Lys) n.616G>A n.930G>A c.2527G>A (p.Glu843Lys) | |
7 | g.94423086G>C | CA368224107 | COL1A2 | c.2533G>C (p.Glu845Gln) n.616G>C n.930G>C c.2527G>C (p.Glu843Gln) | |
7 | g.94423086G>T | CA368224108 | COL1A2 | c.2533G>T (p.Glu845Ter) n.616G>T n.930G>T c.2527G>T (p.Glu843Ter) | |
7 | g.94423086dup | CA915945371 | COL1A2 | c.2533dup (p.Glu845GlyfsTer?) n.616dup n.930dup c.2527dup (p.Glu843GlyfsTer?) | ClinVar dbSNP |
7 | g.94423087A>C | CA368224111 | COL1A2 | c.2534A>C (p.Glu845Ala) n.617A>C n.931A>C c.2528A>C (p.Glu843Ala) | |
7 | g.94423087A>G | CA368224109 | COL1A2 | c.2534A>G (p.Glu845Gly) n.617A>G n.931A>G c.2528A>G (p.Glu843Gly) | |
7 | g.94423087A>T | CA368224110 | COL1A2 | c.2534A>T (p.Glu845Val) n.617A>T n.931A>T c.2528A>T (p.Glu843Val) | |
7 | g.94423088G>A | CA456489657 | COL1A2 | c.2535G>A (p.Glu845=) n.618G>A n.932G>A c.2529G>A (p.Glu843=) | dbSNP |
7 | g.94423088G>C | CA368224112 | COL1A2 | c.2535G>C (p.Glu845Asp) n.618G>C n.932G>C c.2529G>C (p.Glu843Asp) | |
7 | g.94423088G= | CA1726776947 | COL1A2 | c.2535G= (p.Glu845=) n.618G= n.932G= c.2529G= (p.Glu843=) | |
7 | g.94423088G>T | CA368224113 | COL1A2 | c.2535G>T (p.Glu845Asp) n.618G>T n.932G>T c.2529G>T (p.Glu843Asp) | |
7 | g.94423089A= | CA1726776952 | COL1A2 | c.2536A= (p.Lys846=) n.619A= n.933A= c.2530A= (p.Lys844=) | |
7 | g.94423089A>C | CA368224114 | COL1A2 | c.2536A>C (p.Lys846Gln) n.619A>C n.933A>C c.2530A>C (p.Lys844Gln) | |
7 | g.94423089A>G | CA368224115 | COL1A2 | c.2536A>G (p.Lys846Glu) n.619A>G n.933A>G c.2530A>G (p.Lys844Glu) | |
7 | g.94423089A>T | CA368224116 | COL1A2 | c.2536A>T (p.Lys846Ter) n.619A>T n.933A>T c.2530A>T (p.Lys844Ter) | |
7 | g.94423089_94423090insGGAC | CA576707138 | COL1A2 | c.2536_2537insGGAC (p.Lys846ArgfsTer?) n.619_620insGGAC n.933_934insGGAC c.2530_2531insGGAC (p.Lys844ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423090A>C | CA368224117 | COL1A2 | c.2537A>C (p.Lys846Thr) n.620A>C n.934A>C c.2531A>C (p.Lys844Thr) | |
7 | g.94423090A>G | CA368224119 | COL1A2 | c.2537A>G (p.Lys846Arg) n.620A>G n.934A>G c.2531A>G (p.Lys844Arg) | gnomAD v4 |
7 | g.94423090A>T | CA368224118 | COL1A2 | c.2537A>T (p.Lys846Met) n.620A>T n.934A>T c.2531A>T (p.Lys844Met) | |
7 | g.94423091G>A | CA456489658 | COL1A2 | c.2538G>A (p.Lys846=) n.621G>A n.935G>A c.2532G>A (p.Lys844=) | gnomAD v4 |
7 | g.94423091G>C | CA368224120 | COL1A2 | c.2538G>C (p.Lys846Asn) n.621G>C n.935G>C c.2532G>C (p.Lys844Asn) | COSMIC |
7 | g.94423091G>T | CA368224121 | COL1A2 | c.2538G>T (p.Lys846Asn) n.621G>T n.935G>T c.2532G>T (p.Lys844Asn) | gnomAD v4 |
7 | g.94423092G>A | CA368224122 | COL1A2 | c.2539G>A (p.Gly847Ser) n.622G>A n.936G>A c.2533G>A (p.Gly845Ser) | ClinVar COSMIC |
7 | g.94423092G>C | CA162938065 | COL1A2 | c.2539G>C (p.Gly847Arg) n.622G>C n.936G>C c.2533G>C (p.Gly845Arg) | dbSNP |
7 | g.94423092G= | CA1726776956 | COL1A2 | c.2539G= (p.Gly847=) n.622G= n.936G= c.2533G= (p.Gly845=) | |
7 | g.94423092G>T | CA368224123 | COL1A2 | c.2539G>T (p.Gly847Cys) n.622G>T n.936G>T c.2533G>T (p.Gly845Cys) | |
7 | g.94423093G>A | CA368224124 | COL1A2 | c.2540G>A (p.Gly847Asp) n.623G>A n.937G>A c.2534G>A (p.Gly845Asp) | |
7 | g.94423093G>C | CA368224125 | COL1A2 | c.2540G>C (p.Gly847Ala) n.623G>C n.937G>C c.2534G>C (p.Gly845Ala) | |
7 | g.94423093G>T | CA368224126 | COL1A2 | c.2540G>T (p.Gly847Val) n.623G>T n.937G>T c.2534G>T (p.Gly845Val) | |
7 | g.94423094T>A | CA456489659 | COL1A2 | c.2541T>A (p.Gly847=) n.624T>A n.938T>A c.2535T>A (p.Gly845=) | |
7 | g.94423094T>C | CA456489660 | COL1A2 | c.2541T>C (p.Gly847=) n.624T>C n.938T>C c.2535T>C (p.Gly845=) | |
7 | g.94423094T>G | CA456489661 | COL1A2 | c.2541T>G (p.Gly847=) n.624T>G n.938T>G c.2535T>G (p.Gly845=) | |
7 | g.94423094dup | CA2578942135 | COL1A2 | c.2541dup (p.Pro848SerfsTer?) n.624dup n.938dup c.2535dup (p.Pro846SerfsTer?) | |
7 | g.94423095C>A | CA4347472 | COL1A2 | c.2542C>A (p.Pro848Thr) n.625C>A n.939C>A c.2536C>A (p.Pro846Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423095C= | CA1726776964 | COL1A2 | c.2542C= (p.Pro848=) n.625C= n.939C= c.2536C= (p.Pro846=) | |
7 | g.94423095C>G | CA368224127 | COL1A2 | c.2542C>G (p.Pro848Ala) n.625C>G n.939C>G c.2536C>G (p.Pro846Ala) | |
7 | g.94423095C>T | CA368224128 | COL1A2 | c.2542C>T (p.Pro848Ser) n.625C>T n.939C>T c.2536C>T (p.Pro846Ser) | gnomAD v4 |
7 | g.94423095_94423096delinsTT | CA2695208041 | COL1A2 | c.2542_2543delinsTT (p.Pro848Phe) n.625_626delinsTT n.939_940delinsTT c.2536_2537delinsTT (p.Pro846Phe) | |
7 | g.94423096C>A | CA368224129 | COL1A2 | c.2543C>A (p.Pro848His) n.626C>A n.940C>A c.2537C>A (p.Pro846His) | |
7 | g.94423096C>G | CA368224131 | COL1A2 | c.2543C>G (p.Pro848Arg) n.626C>G n.940C>G c.2537C>G (p.Pro846Arg) | |
7 | g.94423096C>T | CA368224130 | COL1A2 | c.2543C>T (p.Pro848Leu) n.626C>T n.940C>T c.2537C>T (p.Pro846Leu) | gnomAD v4 COSMIC |
7 | g.94423096_94423102del | CA2776986529 | COL1A2 | c.2543_2549del (p.Pro848GlnfsTer?) n.626_632del n.940_946del c.2537_2543del (p.Pro846GlnfsTer?) | |
7 | g.94423097C>A | CA162938073 | COL1A2 | c.2544C>A (p.Pro848=) n.627C>A n.941C>A c.2538C>A (p.Pro846=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94423097C= | CA1726776968 | COL1A2 | c.2544C= (p.Pro848=) n.627C= n.941C= c.2538C= (p.Pro846=) | |
7 | g.94423097C>G | CA456489662 | COL1A2 | c.2544C>G (p.Pro848=) n.627C>G n.941C>G c.2538C>G (p.Pro846=) | |
7 | g.94423097C>T | CA456489663 | COL1A2 | c.2544C>T (p.Pro848=) n.627C>T n.941C>T c.2538C>T (p.Pro846=) | |
7 | g.94423098T>A | CA368224132 | COL1A2 | c.2545T>A (p.Ser849Thr) n.628T>A n.942T>A c.2539T>A (p.Ser847Thr) | |
7 | g.94423098T>C | CA368224133 | COL1A2 | c.2545T>C (p.Ser849Pro) n.628T>C n.942T>C c.2539T>C (p.Ser847Pro) | gnomAD v4 |
7 | g.94423098T>G | CA368224134 | COL1A2 | c.2545T>G (p.Ser849Ala) n.628T>G n.942T>G c.2539T>G (p.Ser847Ala) | gnomAD v4 |
7 | g.94423099C>A | CA368224135 | COL1A2 | c.2546C>A (p.Ser849Tyr) n.629C>A n.943C>A c.2540C>A (p.Ser847Tyr) | |
7 | g.94423099C>G | CA368224136 | COL1A2 | c.2546C>G (p.Ser849Cys) n.629C>G n.943C>G c.2540C>G (p.Ser847Cys) | COSMIC |
7 | g.94423099C>T | CA368224137 | COL1A2 | c.2546C>T (p.Ser849Phe) n.629C>T n.943C>T c.2540C>T (p.Ser847Phe) | |
7 | g.94423100T>A | CA456489664 | COL1A2 | c.2547T>A (p.Ser849=) n.630T>A n.944T>A c.2541T>A (p.Ser847=) | |
7 | g.94423100T>C | CA456489665 | COL1A2 | c.2547T>C (p.Ser849=) n.630T>C n.944T>C c.2541T>C (p.Ser847=) | |
7 | g.94423100T>G | CA456489666 | COL1A2 | c.2547T>G (p.Ser849=) n.630T>G n.944T>G c.2541T>G (p.Ser847=) | |
7 | g.94423101G>A | CA368224138 | COL1A2 | c.2548G>A (p.Gly850Arg) n.631G>A n.945G>A c.2542G>A (p.Gly848Arg) | |
7 | g.94423101G>C | CA368224140 | COL1A2 | c.2548G>C (p.Gly850Arg) n.631G>C n.945G>C c.2542G>C (p.Gly848Arg) | |
7 | g.94423101G>T | CA368224139 | COL1A2 | c.2548G>T (p.Gly850Ter) n.631G>T n.945G>T c.2542G>T (p.Gly848Ter) | |
7 | g.94423102G>A | CA16043430 | COL1A2 | c.2549G>A (p.Gly850Glu) n.632G>A n.946G>A c.2543G>A (p.Gly848Glu) | ClinVar dbSNP |
7 | g.94423102G>C | CA368224141 | COL1A2 | c.2549G>C (p.Gly850Ala) n.632G>C n.946G>C c.2543G>C (p.Gly848Ala) | dbSNP gnomAD v4 |
7 | g.94423102G= | CA1726776973 | COL1A2 | c.2549G= (p.Gly850=) n.632G= n.946G= c.2543G= (p.Gly848=) | |
7 | g.94423102G>T | CA368224142 | COL1A2 | c.2549G>T (p.Gly850Val) n.632G>T n.946G>T c.2543G>T (p.Gly848Val) | |
7 | g.94423103A= | CA1726776977 | COL1A2 | c.2550A= (p.Gly850=) n.633A= n.947A= c.2544A= (p.Gly848=) | |
7 | g.94423103A>C | CA456489667 | COL1A2 | c.2550A>C (p.Gly850=) n.633A>C n.947A>C c.2544A>C (p.Gly848=) | |
7 | g.94423103A>G | CA456489668 | COL1A2 | c.2550A>G (p.Gly850=) n.633A>G n.947A>G c.2544A>G (p.Gly848=) | ClinVar |
7 | g.94423103A>T | CA4347473 | COL1A2 | c.2550A>T (p.Gly850=) n.633A>T n.947A>T c.2544A>T (p.Gly848=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423104G>A | CA368224143 | COL1A2 | c.2551G>A (p.Glu851Lys) n.634G>A n.948G>A c.2545G>A (p.Glu849Lys) | |
7 | g.94423104G>C | CA368224145 | COL1A2 | c.2551G>C (p.Glu851Gln) n.634G>C n.948G>C c.2545G>C (p.Glu849Gln) | |
7 | g.94423104G>T | CA368224144 | COL1A2 | c.2551G>T (p.Glu851Ter) n.634G>T n.948G>T c.2545G>T (p.Glu849Ter) | |
7 | g.94423105A>C | CA368224146 | COL1A2 | c.2552A>C (p.Glu851Ala) n.635A>C n.949A>C c.2546A>C (p.Glu849Ala) | |
7 | g.94423105A>G | CA368224147 | COL1A2 | c.2552A>G (p.Glu851Gly) n.635A>G n.949A>G c.2546A>G (p.Glu849Gly) | |
7 | g.94423105A>T | CA368224148 | COL1A2 | c.2552A>T (p.Glu851Val) n.635A>T n.949A>T c.2546A>T (p.Glu849Val) | |
7 | g.94423106G>A | CA456489669 | COL1A2 | c.2553G>A (p.Glu851=) n.636G>A n.950G>A c.2547G>A (p.Glu849=) | ClinVar dbSNP |
7 | g.94423106G>C | CA368224149 | COL1A2 | c.2553G>C (p.Glu851Asp) n.636G>C n.950G>C c.2547G>C (p.Glu849Asp) | |
7 | g.94423106G= | CA1726776982 | COL1A2 | c.2553G= (p.Glu851=) n.636G= n.950G= c.2547G= (p.Glu849=) | |
7 | g.94423106G>T | CA368224150 | COL1A2 | c.2553G>T (p.Glu851Asp) n.636G>T n.950G>T c.2547G>T (p.Glu849Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94423107G>A | CA4347475 | COL1A2 | c.2554G>A (p.Ala852Thr) n.637G>A n.951G>A c.2548G>A (p.Ala850Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423107G>C | CA368224151 | COL1A2 | c.2554G>C (p.Ala852Pro) n.637G>C n.951G>C c.2548G>C (p.Ala850Pro) | |
7 | g.94423107G= | CA1726776988 | COL1A2 | c.2554G= (p.Ala852=) n.637G= n.951G= c.2548G= (p.Ala850=) | |
7 | g.94423107G>T | CA4347474 | COL1A2 | c.2554G>T (p.Ala852Ser) n.637G>T n.951G>T c.2548G>T (p.Ala850Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94423108C>A | CA368224152 | COL1A2 | c.2555C>A (p.Ala852Asp) n.638C>A n.952C>A c.2549C>A (p.Ala850Asp) | |
7 | g.94423108C>G | CA368224153 | COL1A2 | c.2555C>G (p.Ala852Gly) n.638C>G n.952C>G c.2549C>G (p.Ala850Gly) | |
7 | g.94423108C>T | CA368224154 | COL1A2 | c.2555C>T (p.Ala852Val) n.638C>T n.952C>T c.2549C>T (p.Ala850Val) | |
7 | g.94423108_94423109insACAT | CA2776986536 | COL1A2 | c.2555_2556insACAT (p.Gly853HisfsTer30) n.638_639insACAT n.952_953insACAT c.2549_2550insACAT (p.Gly851HisfsTer30) | |
7 | g.94423109T>A | CA456489670 | COL1A2 | c.2556T>A (p.Ala852=) n.639T>A n.953T>A c.2550T>A (p.Ala850=) | |
7 | g.94423109T>C | CA456489671 | COL1A2 | c.2556T>C (p.Ala852=) n.639T>C n.953T>C c.2550T>C (p.Ala850=) | |
7 | g.94423109T>G | CA456489672 | COL1A2 | c.2556T>G (p.Ala852=) n.639T>G n.953T>G c.2550T>G (p.Ala850=) | |
7 | g.94423110_94423120dup | CA2683772112 | COL1A2 | c.2557_2565+2dup n.640_650dup c.2551_2559+2dup | gnomAD v4 |
7 | g.94423110G>A | CA368224155 | COL1A2 | c.2557G>A (p.Gly853Ser) n.640G>A n.954G>A c.2551G>A (p.Gly851Ser) | gnomAD v4 |
7 | g.94423110G>C | CA368224157 | COL1A2 | c.2557G>C (p.Gly853Arg) n.640G>C n.954G>C c.2551G>C (p.Gly851Arg) | |
7 | g.94423110G>T | CA368224156 | COL1A2 | c.2557G>T (p.Gly853Cys) n.640G>T n.954G>T c.2551G>T (p.Gly851Cys) | |
7 | g.94423111G>A | CA368224158 | COL1A2 | c.2558G>A (p.Gly853Asp) n.641G>A n.955G>A c.2552G>A (p.Gly851Asp) | |
7 | g.94423111G>C | CA368224159 | COL1A2 | c.2558G>C (p.Gly853Ala) n.641G>C n.955G>C c.2552G>C (p.Gly851Ala) | ClinVar gnomAD v4 |
7 | g.94423111G= | CA1726776994 | COL1A2 | c.2558G= (p.Gly853=) n.641G= n.955G= c.2552G= (p.Gly851=) | |
7 | g.94423111G>T | CA162938084 | COL1A2 | c.2558G>T (p.Gly853Val) n.641G>T n.955G>T c.2552G>T (p.Gly851Val) | dbSNP |
7 | g.94423112T>A | CA456489673 | COL1A2 | c.2559T>A (p.Gly853=) n.642T>A n.956T>A c.2553T>A (p.Gly851=) | |
7 | g.94423112T>C | CA456489674 | COL1A2 | c.2559T>C (p.Gly853=) n.642T>C n.956T>C c.2553T>C (p.Gly851=) | |
7 | g.94423112T>G | CA4347476 | COL1A2 | c.2559T>G (p.Gly853=) n.642T>G n.956T>G c.2553T>G (p.Gly851=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94423112T= | CA1726777001 | COL1A2 | c.2559T= (p.Gly853=) n.642T= n.956T= c.2553T= (p.Gly851=) | |
7 | g.94423113A>C | CA368224160 | COL1A2 | c.2560A>C (p.Thr854Pro) n.643A>C n.957A>C c.2554A>C (p.Thr852Pro) | |
7 | g.94423113A>G | CA368224161 | COL1A2 | c.2560A>G (p.Thr854Ala) n.643A>G n.957A>G c.2554A>G (p.Thr852Ala) | |
7 | g.94423113A>T | CA368224162 | COL1A2 | c.2560A>T (p.Thr854Ser) n.643A>T n.957A>T c.2554A>T (p.Thr852Ser) | |
7 | g.94423114C>A | CA368224163 | COL1A2 | c.2561C>A (p.Thr854Asn) n.644C>A n.958C>A c.2555C>A (p.Thr852Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94423114C= | CA1726777006 | COL1A2 | c.2561C= (p.Thr854=) n.644C= n.958C= c.2555C= (p.Thr852=) | |
7 | g.94423114C>G | CA368224164 | COL1A2 | c.2561C>G (p.Thr854Ser) n.644C>G n.958C>G c.2555C>G (p.Thr852Ser) | |
7 | g.94423114C>T | CA368224165 | COL1A2 | c.2561C>T (p.Thr854Ile) n.644C>T n.958C>T c.2555C>T (p.Thr852Ile) | |
7 | g.94423115T>A | CA456489675 | COL1A2 | c.2562T>A (p.Thr854=) n.645T>A n.959T>A c.2556T>A (p.Thr852=) | |
7 | g.94423115T>C | CA456489676 | COL1A2 | c.2562T>C (p.Thr854=) n.645T>C n.959T>C c.2556T>C (p.Thr852=) | gnomAD v4 |
7 | g.94423115T>G | CA456489677 | COL1A2 | c.2562T>G (p.Thr854=) n.645T>G n.959T>G c.2556T>G (p.Thr852=) | |
7 | g.94423116G>A | CA4347477 | COL1A2 | c.2563G>A (p.Ala855Thr) n.646G>A n.960G>A c.2557G>A (p.Ala853Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423116G>C | CA368224166 | COL1A2 | c.2563G>C (p.Ala855Pro) n.646G>C n.960G>C c.2557G>C (p.Ala853Pro) | |
7 | g.94423116G= | CA1726777014 | COL1A2 | c.2563G= (p.Ala855=) n.646G= n.960G= c.2557G= (p.Ala853=) | |
7 | g.94423116G>T | CA368224167 | COL1A2 | c.2563G>T (p.Ala855Ser) n.646G>T n.960G>T c.2557G>T (p.Ala853Ser) | |
7 | g.94423117C>A | CA368224168 | COL1A2 | c.2564C>A (p.Ala855Asp) n.647C>A n.961C>A c.2558C>A (p.Ala853Asp) | |
7 | g.94423117C>G | CA368224170 | COL1A2 | c.2564C>G (p.Ala855Gly) n.647C>G n.961C>G c.2558C>G (p.Ala853Gly) | |
7 | g.94423117C>T | CA368224169 | COL1A2 | c.2564C>T (p.Ala855Val) n.647C>T n.961C>T c.2558C>T (p.Ala853Val) | |
7 | g.94423118T>A | CA456489678 | COL1A2 | c.2565T>A (p.Ala855=) n.648T>A n.962T>A c.2559T>A (p.Ala853=) | |
7 | g.94423118T>C | CA456489679 | COL1A2 | c.2565T>C (p.Ala855=) n.648T>C n.962T>C c.2559T>C (p.Ala853=) | |
7 | g.94423118T>G | CA456489680 | COL1A2 | c.2565T>G (p.Ala855=) n.648T>G n.962T>G c.2559T>G (p.Ala853=) | |
7 | g.94423118_94423122delinsTGTAA | CA1726777024 | COL1A2 | c.2565_2565+4delinsTGTAA n.648_652delinsTGTAA c.2559_2559+4delinsTGTAA | |
7 | g.94423119G>A | CA162938093 | COL1A2 | c.2565+1G>A (n.2565+1G>A) n.649G>A c.2559+1G>A (n.2559+1G>A) | ClinVar dbSNP |
7 | g.94423119G>C | CA368224171 | COL1A2 | c.2565+1G>C (n.2565+1G>C) n.649G>C c.2559+1G>C (n.2559+1G>C) | ClinVar dbSNP |
7 | g.94423119G= | CA1726777034 | COL1A2 | c.2565+1G= (n.2565+1G=) n.649G= c.2559+1G= (n.2559+1G=) | |
7 | g.94423119G>T | CA368224172 | COL1A2 | c.2565+1G>T (n.2565+1G>T) n.649G>T c.2559+1G>T (n.2559+1G>T) | |
7 | g.94423121_94423124del | CA915945372 | COL1A2 | c.2565+3_2565+6del (n.2565+3_2565+6del) n.651_654del c.2559+3_2559+6del (n.2559+3_2559+6del) | ClinVar dbSNP |
7 | g.94423120T>A | CA368224173 | COL1A2 | c.2565+2T>A (n.2565+2T>A) n.650T>A c.2559+2T>A (n.2559+2T>A) | ClinVar dbSNP |
7 | g.94423120T>C | CA368224174 | COL1A2 | c.2565+2T>C (n.2565+2T>C) n.650T>C c.2559+2T>C (n.2559+2T>C) | |
7 | g.94423120T>G | CA368224175 | COL1A2 | c.2565+2T>G (n.2565+2T>G) n.650T>G c.2559+2T>G (n.2559+2T>G) | |
7 | g.94423123G>A | CA162938095 | COL1A2 | c.2565+5G>A (n.2565+5G>A) n.653G>A c.2559+5G>A (n.2559+5G>A) | dbSNP |
7 | g.94423123G= | CA1726777043 | COL1A2 | c.2565+5G= (n.2565+5G=) n.653G= c.2559+5G= (n.2559+5G=) | |
7 | g.94423125G>A | CA162938098 | COL1A2 | c.2565+7G>A (n.2565+7G>A) n.655G>A c.2559+7G>A (n.2559+7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94423125G>C | CA4347478 | COL1A2 | c.2565+7G>C (n.2565+7G>C) n.655G>C c.2559+7G>C (n.2559+7G>C) | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.94423125G= | CA1726777045 | COL1A2 | c.2565+7G= (n.2565+7G=) n.655G= c.2559+7G= (n.2559+7G=) | |
7 | g.94423130C>A | CA2578942136 | COL1A2 | c.2565+12C>A (n.2565+12C>A) n.660C>A c.2559+12C>A (n.2559+12C>A) | ClinVar gnomAD v4 |
7 | g.94423130C= | CA1726777048 | COL1A2 | c.2565+12C= (n.2565+12C=) n.660C= c.2559+12C= (n.2559+12C=) | |
7 | g.94423130C>T | CA576707139 | COL1A2 | c.2565+12C>T (n.2565+12C>T) n.660C>T c.2559+12C>T (n.2559+12C>T) | dbSNP gnomAD v2 |