Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.50196531_50196618del	CA2809757407	COL1A1	c.858+2_859del n.585+2_586del
17	g.50196610C=	CA2263919342	COL1A1	c.858+7G= (n.858+7G=) n.585+7G=
17	g.50196610C>T	CA626689644	COL1A1	c.858+7G>A (n.858+7G>A) n.585+7G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.50196616_50196620del	CA2695226523	COL1A1	c.858+1_858+5del n.585+1_585+5del
17	g.50196613T>C	CA2576317471	COL1A1	c.858+4A>G (n.858+4A>G) n.585+4A>G	ClinVar dbSNP
17	g.50196613_50196614del	CA2638677325	COL1A1	c.858+3_858+4del (n.858+3_858+4del) n.585+3_585+4del	gnomAD v4
17	g.50196615A>C	CA400222372	COL1A1	c.858+2T>G (n.858+2T>G) n.585+2T>G
17	g.50196615A>G	CA400222376	COL1A1	c.858+2T>C (n.858+2T>C) n.585+2T>C
17	g.50196615A>T	CA400222378	COL1A1	c.858+2T>A (n.858+2T>A) n.585+2T>A
17	g.50196616C>A	CA291547378	COL1A1	c.858+1G>T (n.858+1G>T) n.585+1G>T	dbSNP
17	g.50196616C=	CA2263919343	COL1A1	c.858+1G= (n.858+1G=) n.585+1G=
17	g.50196616C>G	CA400222383	COL1A1	c.858+1G>C (n.858+1G>C) n.585+1G>C
17	g.50196616C>T	CA291547379	COL1A1	c.858+1G>A (n.858+1G>A) n.585+1G>A	ClinVar dbSNP
17	g.50196617C>A	CA400222388	COL1A1	c.858G>T (p.Lys286Asn) n.585G>T
17	g.50196617C=	CA2263919344	COL1A1	c.858G= (p.Lys286=) n.585G=
17	g.50196617C>G	CA400222391	COL1A1	c.858G>C (p.Lys286Asn) n.585G>C
17	g.50196617C>T	CA500851406	COL1A1	c.858G>A (p.Lys286=) n.585G>A	dbSNP gnomAD v2 gnomAD v4
17	g.50196618T>A	CA400222396	COL1A1	c.857A>T (p.Lys286Met) n.584A>T
17	g.50196618T>C	CA400222398	COL1A1	c.857A>G (p.Lys286Arg) n.584A>G	gnomAD v4
17	g.50196618T>G	CA400222401	COL1A1	c.857A>C (p.Lys286Thr) n.584A>C
17	g.50196619T>A	CA400222406	COL1A1	c.856A>T (p.Lys286Ter) n.583A>T
17	g.50196619T>C	CA400222409	COL1A1	c.856A>G (p.Lys286Glu) n.583A>G
17	g.50196619T>G	CA400222404	COL1A1	c.856A>C (p.Lys286Gln) n.583A>C
17	g.50196620A=	CA2263919345	COL1A1	c.855T= (p.Pro285=) n.582T=
17	g.50196620A>C	CA500851408	COL1A1	c.855T>G (p.Pro285=) n.582T>G
17	g.50196620A>G	CA500851410	COL1A1	c.855T>C (p.Pro285=) n.582T>C	ClinVar dbSNP
17	g.50196620A>T	CA500851411	COL1A1	c.855T>A (p.Pro285=) n.582T>A
17	g.50196630_50196638del	CA2739291028	COL1A1	c.847_855del (p.Ala283_Pro285del) n.574_582del
17	g.50196621G>A	CA400222418	COL1A1	c.854C>T (p.Pro285Leu) n.581C>T	dbSNP gnomAD v3 gnomAD v4
17	g.50196621G>C	CA400222423	COL1A1	c.854C>G (p.Pro285Arg) n.581C>G
17	g.50196621G=	CA2263919346	COL1A1	c.854C= (p.Pro285=) n.581C=
17	g.50196621G>T	CA400222421	COL1A1	c.854C>A (p.Pro285His) n.581C>A
17	g.50196622G>A	CA400222426	COL1A1	c.853C>T (p.Pro285Ser) n.580C>T
17	g.50196622G>C	CA400222429	COL1A1	c.853C>G (p.Pro285Ala) n.580C>G	ClinVar dbSNP
17	g.50196622G=	CA2263919347	COL1A1	c.853C= (p.Pro285=) n.580C=
17	g.50196622G>T	CA400222432	COL1A1	c.853C>A (p.Pro285Thr) n.580C>A
17	g.50196623A>C	CA500851412	COL1A1	c.852T>G (p.Gly284=) n.579T>G
17	g.50196623A>G	CA500851413	COL1A1	c.852T>C (p.Gly284=) n.579T>C
17	g.50196623A>T	CA500851414	COL1A1	c.852T>A (p.Gly284=) n.579T>A
17	g.50196624C>A	CA400222437	COL1A1	c.851G>T (p.Gly284Val) n.578G>T
17	g.50196624C=	CA2263919348	COL1A1	c.851G= (p.Gly284=) n.578G=
17	g.50196624C>G	CA291547382	COL1A1	c.851G>C (p.Gly284Ala) n.578G>C	ClinVar dbSNP gnomAD v4
17	g.50196624C>T	CA400222444	COL1A1	c.851G>A (p.Gly284Asp) n.578G>A	ClinVar
17	g.50196625C>A	CA400222448	COL1A1	c.850G>T (p.Gly284Cys) n.577G>T
17	g.50196625C=	CA2263919349	COL1A1	c.850G= (p.Gly284=) n.577G=
17	g.50196625C>G	CA400222450	COL1A1	c.850G>C (p.Gly284Arg) n.577G>C
17	g.50196625C>T	CA291547387	COL1A1	c.850G>A (p.Gly284Ser) n.577G>A	dbSNP
17	g.50196626A>C	CA500851416	COL1A1	c.849T>G (p.Ala283=) n.576T>G
17	g.50196626A>G	CA500851417	COL1A1	c.849T>C (p.Ala283=) n.576T>C
17	g.50196626A>T	CA500851418	COL1A1	c.849T>A (p.Ala283=) n.576T>A
17	g.50196626dup	CA2733839881	COL1A1	c.849dup (p.Gly284TrpfsTer3) n.576dup	dbSNP
17	g.50196626_50196634delinsAGCAGGACC	CA2263919350	COL1A1	c.841_849delinsGGTCCTGCT (p.Gly281=) n.568_576delinsGGTCCTGCT
17	g.50196627G>A	CA400222454	COL1A1	c.848C>T (p.Ala283Val) n.575C>T	gnomAD v4
17	g.50196627G>C	CA400222457	COL1A1	c.848C>G (p.Ala283Gly) n.575C>G
17	g.50196627G>T	CA400222459	COL1A1	c.848C>A (p.Ala283Asp) n.575C>A
17	g.50196627_50196634del	CA891843716	COL1A1	c.841_848del (p.Gly281TrpfsTer3) n.568_575del	ClinVar dbSNP
17	g.50196628C>A	CA400222462	COL1A1	c.847G>T (p.Ala283Ser) n.574G>T	dbSNP gnomAD v2 gnomAD v4
17	g.50196628C=	CA2263919351	COL1A1	c.847G= (p.Ala283=) n.574G=
17	g.50196628C>G	CA400222468	COL1A1	c.847G>C (p.Ala283Pro) n.574G>C
17	g.50196628C>T	CA400222464	COL1A1	c.847G>A (p.Ala283Thr) n.574G>A
17	g.50196629A>C	CA500851419	COL1A1	c.846T>G (p.Pro282=) n.573T>G
17	g.50196629A>G	CA500851420	COL1A1	c.846T>C (p.Pro282=) n.573T>C
17	g.50196629A>T	CA500851421	COL1A1	c.846T>A (p.Pro282=) n.573T>A
17	g.50196630G>A	CA400222471	COL1A1	c.845C>T (p.Pro282Leu) n.572C>T
17	g.50196630G>C	CA400222473	COL1A1	c.845C>G (p.Pro282Arg) n.572C>G
17	g.50196630G>T	CA400222476	COL1A1	c.845C>A (p.Pro282His) n.572C>A
17	g.50196631G>A	CA400222479	COL1A1	c.844C>T (p.Pro282Ser) n.571C>T	gnomAD v4
17	g.50196631G>C	CA400222482	COL1A1	c.844C>G (p.Pro282Ala) n.571C>G
17	g.50196631G=	CA2263919352	COL1A1	c.844C= (p.Pro282=) n.571C=
17	g.50196631G>T	CA400222485	COL1A1	c.844C>A (p.Pro282Thr) n.571C>A	dbSNP
17	g.50196632A>C	CA500851422	COL1A1	c.843T>G (p.Gly281=) n.570T>G
17	g.50196632A>G	CA500851423	COL1A1	c.843T>C (p.Gly281=) n.570T>C
17	g.50196632A>T	CA500851424	COL1A1	c.843T>A (p.Gly281=) n.570T>A
17	g.50196633C>A	CA400222488	COL1A1	c.842G>T (p.Gly281Val) n.569G>T
17	g.50196633C=	CA2263919353	COL1A1	c.842G= (p.Gly281=) n.569G=
17	g.50196633C>G	CA400222490	COL1A1	c.842G>C (p.Gly281Ala) n.569G>C
17	g.50196633C>T	CA291547389	COL1A1	c.842G>A (p.Gly281Asp) n.569G>A	dbSNP COSMIC
17	g.50196634C>A	CA400222491	COL1A1	c.841G>T (p.Gly281Cys) n.568G>T
17	g.50196634C=	CA2263919354	COL1A1	c.841G= (p.Gly281=) n.568G=
17	g.50196634C>G	CA400222492	COL1A1	c.841G>C (p.Gly281Arg) n.568G>C
17	g.50196634C>T	CA291547390	COL1A1	c.841G>A (p.Gly281Ser) n.568G>A	ClinVar dbSNP
17	g.50196635A>C	CA500851425	COL1A1	c.840T>G (p.Ala280=) n.567T>G
17	g.50196635A>G	CA500851426	COL1A1	c.840T>C (p.Ala280=) n.567T>C
17	g.50196635A>T	CA500851427	COL1A1	c.840T>A (p.Ala280=) n.567T>A
17	g.50196636G>A	CA400222493	COL1A1	c.839C>T (p.Ala280Val) n.566C>T	dbSNP gnomAD v2 gnomAD v4
17	g.50196636G>C	CA400222502	COL1A1	c.839C>G (p.Ala280Gly) n.566C>G
17	g.50196636G=	CA2263919355	COL1A1	c.839C= (p.Ala280=) n.566C=
17	g.50196636G>T	CA400222505	COL1A1	c.839C>A (p.Ala280Asp) n.566C>A	ClinVar dbSNP
17	g.50196637C>A	CA400222509	COL1A1	c.838G>T (p.Ala280Ser) n.565G>T
17	g.50196637C>G	CA400222511	COL1A1	c.838G>C (p.Ala280Pro) n.565G>C
17	g.50196637C>T	CA400222514	COL1A1	c.838G>A (p.Ala280Thr) n.565G>A
17	g.50196638A>C	CA400222520	COL1A1	c.837T>G (p.Asp279Glu) n.564T>G
17	g.50196638A>G	CA500851431	COL1A1	c.837T>C (p.Asp279=) n.564T>C
17	g.50196638A>T	CA400222517	COL1A1	c.837T>A (p.Asp279Glu) n.564T>A
17	g.50196639T>A	CA400222524	COL1A1	c.836A>T (p.Asp279Val) n.563A>T
17	g.50196639T>C	CA400222527	COL1A1	c.836A>G (p.Asp279Gly) n.563A>G
17	g.50196639T>G	CA400222529	COL1A1	c.836A>C (p.Asp279Ala) n.563A>C
17	g.50196639_50196640delinsGGACCAGCAGGA	CA2499306899	COL1A1	c.835_836delinsTCCTGCTGGTCC (p.Asp279SerfsTer11) n.562_563delinsTCCTGCTGGTCC	ClinVar dbSNP
17	g.50196640C>A	CA400222532	COL1A1	c.835G>T (p.Asp279Tyr) n.562G>T
17	g.50196640C=	CA2263919356	COL1A1	c.835G= (p.Asp279=) n.562G=
17	g.50196640C>G	CA400222535	COL1A1	c.835G>C (p.Asp279His) n.562G>C	gnomAD v4
17	g.50196640C>T	CA8645528	COL1A1	c.835G>A (p.Asp279Asn) n.562G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.50196641T>A	CA500851432	COL1A1	c.834A>T (p.Gly278=) n.561A>T
17	g.50196641T>C	CA500851433	COL1A1	c.834A>G (p.Gly278=) n.561A>G
17	g.50196641T>G	CA500851434	COL1A1	c.834A>C (p.Gly278=) n.561A>C
17	g.50196641_50196642delinsAA	CA916081210	COL1A1	c.833_834delinsTT (p.Gly278Val) n.560_561delinsTT	ClinVar dbSNP
17	g.50196641_50196642delinsTC	CA2263919357	COL1A1	c.833_834delinsGA (p.Gly278=) n.560_561delinsGA
17	g.50196642C>A	CA400222540	COL1A1	c.833G>T (p.Gly278Val) n.560G>T
17	g.50196642C>G	CA400222545	COL1A1	c.833G>C (p.Gly278Ala) n.560G>C
17	g.50196642C>T	CA400222542	COL1A1	c.833G>A (p.Gly278Glu) n.560G>A
17	g.50196643C>A	CA400222549	COL1A1	c.832G>T (p.Gly278Ter) n.559G>T
17	g.50196643C>G	CA400222551	COL1A1	c.832G>C (p.Gly278Arg) n.559G>C
17	g.50196643C>T	CA400222552	COL1A1	c.832G>A (p.Gly278Arg) n.559G>A
17	g.50196644C>A	CA400222556	COL1A1	c.831G>T (p.Lys277Asn) n.558G>T
17	g.50196644C=	CA2263919358	COL1A1	c.831G= (p.Lys277=) n.558G=
17	g.50196644C>G	CA400222558	COL1A1	c.831G>C (p.Lys277Asn) n.558G>C
17	g.50196644C>T	CA500851436	COL1A1	c.831G>A (p.Lys277=) n.558G>A	dbSNP gnomAD v4
17	g.50196645T>A	CA400222562	COL1A1	c.830A>T (p.Lys277Met) n.557A>T
17	g.50196645T>C	CA400222565	COL1A1	c.830A>G (p.Lys277Arg) n.557A>G
17	g.50196645T>G	CA400222567	COL1A1	c.830A>C (p.Lys277Thr) n.557A>C	gnomAD v4
17	g.50196646T>A	CA400222569	COL1A1	c.829A>T (p.Lys277Ter) n.556A>T
17	g.50196646T>C	CA400222572	COL1A1	c.829A>G (p.Lys277Glu) n.556A>G
17	g.50196646T>G	CA400222576	COL1A1	c.829A>C (p.Lys277Gln) n.556A>C
17	g.50196647G>A	CA500851437	COL1A1	c.828C>T (p.Ala276=) n.555C>T
17	g.50196647G>C	CA500851438	COL1A1	c.828C>G (p.Ala276=) n.555C>G
17	g.50196647G>T	CA500851440	COL1A1	c.828C>A (p.Ala276=) n.555C>A
17	g.50196648G>A	CA400222586	COL1A1	c.827C>T (p.Ala276Val) n.554C>T
17	g.50196648G>C	CA400222583	COL1A1	c.827C>G (p.Ala276Gly) n.554C>G
17	g.50196648G>T	CA400222580	COL1A1	c.827C>A (p.Ala276Asp) n.554C>A
17	g.50196649C>A	CA400222589	COL1A1	c.826G>T (p.Ala276Ser) n.553G>T
17	g.50196649C>G	CA400222600	COL1A1	c.826G>C (p.Ala276Pro) n.553G>C
17	g.50196649C>T	CA400222592	COL1A1	c.826G>A (p.Ala276Thr) n.553G>A	gnomAD v4
17	g.50196650A>C	CA500851441	COL1A1	c.825T>G (p.Gly275=) n.552T>G
17	g.50196650A>G	CA500851443	COL1A1	c.825T>C (p.Gly275=) n.552T>C
17	g.50196650A>T	CA500851442	COL1A1	c.825T>A (p.Gly275=) n.552T>A
17	g.50196651C>A	CA400222603	COL1A1	c.824G>T (p.Gly275Val) n.551G>T
17	g.50196651C=	CA2263919359	COL1A1	c.824G= (p.Gly275=) n.551G=
17	g.50196651C>G	CA400222608	COL1A1	c.824G>C (p.Gly275Ala) n.551G>C
17	g.50196651C>T	CA257809	COL1A1	c.824G>A (p.Gly275Asp) n.551G>A	ClinVar dbSNP
17	g.50196652C>A	CA400222611	COL1A1	c.823G>T (p.Gly275Cys) n.550G>T	ClinVar dbSNP
17	g.50196652C=	CA2263919360	COL1A1	c.823G= (p.Gly275=) n.550G=
17	g.50196652C>G	CA291547396	COL1A1	c.823G>C (p.Gly275Arg) n.550G>C	dbSNP
17	g.50196652C>T	CA400222618	COL1A1	c.823G>A (p.Gly275Ser) n.550G>A
17	g.50196653A=	CA2263919361	COL1A1	c.822T= (p.Asp274=) n.549T=
17	g.50196653A>C	CA400222622	COL1A1	c.822T>G (p.Asp274Glu) n.549T>G
17	g.50196653A>G	CA500851446	COL1A1	c.822T>C (p.Asp274=) n.549T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50196653A>T	CA400222624	COL1A1	c.822T>A (p.Asp274Glu) n.549T>A
17	g.50196654T>A	CA8645530	COL1A1	c.821A>T (p.Asp274Val) n.548A>T	dbSNP ExAC gnomAD v4
17	g.50196654T>C	CA8645529	COL1A1	c.821A>G (p.Asp274Gly) n.548A>G	dbSNP ExAC gnomAD v2
17	g.50196654T>G	CA400222632	COL1A1	c.821A>C (p.Asp274Ala) n.548A>C
17	g.50196654T=	CA2263919362	COL1A1	c.821A= (p.Asp274=) n.548A=
17	g.50196655C>A	CA400222636	COL1A1	c.820G>T (p.Asp274Tyr) n.547G>T
17	g.50196655C>G	CA400222639	COL1A1	c.820G>C (p.Asp274His) n.547G>C
17	g.50196655C>T	CA400222640	COL1A1	c.820G>A (p.Asp274Asn) n.547G>A
17	g.50196656C>A	CA400222644	COL1A1	c.819G>T (p.Leu273Phe) n.546G>T
17	g.50196656C>G	CA400222647	COL1A1	c.819G>C (p.Leu273Phe) n.546G>C
17	g.50196656C>T	CA500851448	COL1A1	c.819G>A (p.Leu273=) n.546G>A
17	g.50196657A>C	CA400222650	COL1A1	c.818T>G (p.Leu273Trp) n.545T>G
17	g.50196657A>G	CA400222653	COL1A1	c.818T>C (p.Leu273Ser) n.545T>C
17	g.50196657A>T	CA400222654	COL1A1	c.818T>A (p.Leu273Ter) n.545T>A
17	g.50196658A>C	CA400222659	COL1A1	c.817T>G (p.Leu273Val) n.544T>G
17	g.50196658A>G	CA500851451	COL1A1	c.817T>C (p.Leu273=) n.544T>C	gnomAD v4
17	g.50196658A>T	CA400222662	COL1A1	c.817T>A (p.Leu273Met) n.544T>A
17	g.50196659A=	CA2263919363	COL1A1	c.816T= (p.Gly272=) n.543T=
17	g.50196659A>C	CA500851454	COL1A1	c.816T>G (p.Gly272=) n.543T>G
17	g.50196659A>G	CA500851452	COL1A1	c.816T>C (p.Gly272=) n.543T>C	dbSNP
17	g.50196659A>T	CA500851453	COL1A1	c.816T>A (p.Gly272=) n.543T>A
17	g.50196660C>A	CA400222663	COL1A1	c.815G>T (p.Gly272Val) n.542G>T
17	g.50196660C>G	CA400222665	COL1A1	c.815G>C (p.Gly272Ala) n.542G>C
17	g.50196660C>T	CA400222664	COL1A1	c.815G>A (p.Gly272Asp) n.542G>A
17	g.50196661C>A	CA281082	COL1A1	c.814G>T (p.Gly272Cys) n.541G>T	ClinVar dbSNP gnomAD v4
17	g.50196661C=	CA2263919364	COL1A1	c.814G= (p.Gly272=) n.541G=
17	g.50196661C>G	CA400222666	COL1A1	c.814G>C (p.Gly272Arg) n.541G>C
17	g.50196661C>T	CA400222668	COL1A1	c.814G>A (p.Gly272Ser) n.541G>A	ClinVar dbSNP
17	g.50196662_50196663del	CA2695226524	COL1A1	c.813_814del (p.Ser271ArgfsTer15) n.540_541del
17	g.50196662A>C	CA400222669	COL1A1	c.813T>G (p.Ser271Arg) n.540T>G
17	g.50196662A>G	CA500851455	COL1A1	c.813T>C (p.Ser271=) n.540T>C
17	g.50196662A>T	CA400222670	COL1A1	c.813T>A (p.Ser271Arg) n.540T>A	COSMIC
17	g.50196664_50196669del	CA2809757458	COL1A1	c.808_813del (p.Phe270_Ser271del) n.535_540del
17	g.50196663C>A	CA400222672	COL1A1	c.812G>T (p.Ser271Ile) n.539G>T
17	g.50196663C>G	CA400222674	COL1A1	c.812G>C (p.Ser271Thr) n.539G>C
17	g.50196663C>T	CA400222676	COL1A1	c.812G>A (p.Ser271Asn) n.539G>A
17	g.50196664T>A	CA400222678	COL1A1	c.811A>T (p.Ser271Cys) n.538A>T
17	g.50196664T>C	CA400222680	COL1A1	c.811A>G (p.Ser271Gly) n.538A>G	gnomAD v4
17	g.50196664T>G	CA400222682	COL1A1	c.811A>C (p.Ser271Arg) n.538A>C
17	g.50196664_50196706delinsTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTG	CA2263919365	COL1A1	c.805-36_811delinsCACAGGTTCTTACCTTCTACCTCTTTCCTGCTTTAGGGTTTCA n.532-36_538delinsCACAGGTTCTTACCTTCTACCTCTTTCCTGCTTTAGGGTTTCA
17	g.50196665G>A	CA500851459	COL1A1	c.810C>T (p.Phe270=) n.537C>T
17	g.50196665G>C	CA400222687	COL1A1	c.810C>G (p.Phe270Leu) n.537C>G
17	g.50196665G>T	CA400222684	COL1A1	c.810C>A (p.Phe270Leu) n.537C>A
17	g.50196665_50196666delinsGA	CA2263919366	COL1A1	c.809_810delinsTC (p.Phe270=) n.536_537delinsTC
17	g.50196667_50196708del	CA658656720	COL1A1	c.805-36_810del n.532-36_537del	ClinVar dbSNP
17	g.50196666A=	CA2263919367	COL1A1	c.809T= (p.Phe270=) n.536T=
17	g.50196666A>C	CA400222691	COL1A1	c.809T>G (p.Phe270Cys) n.536T>G
17	g.50196666A>G	CA400222693	COL1A1	c.809T>C (p.Phe270Ser) n.536T>C
17	g.50196666A>T	CA400222696	COL1A1	c.809T>A (p.Phe270Tyr) n.536T>A	dbSNP
17	g.50196668dup	CA2695226525	COL1A1	c.809dup (p.Ser271GlnfsTer16) n.536dup
17	g.50196668del	CA291547405	COL1A1	c.809del (p.Phe270SerfsTer?) n.536del	dbSNP
17	g.50196667A>C	CA400222699	COL1A1	c.808T>G (p.Phe270Val) n.535T>G
17	g.50196667A>G	CA400222702	COL1A1	c.808T>C (p.Phe270Leu) n.535T>C
17	g.50196667A>T	CA400222703	COL1A1	c.808T>A (p.Phe270Ile) n.535T>A
17	g.50196668A>C	CA500851461	COL1A1	c.807T>G (p.Gly269=) n.534T>G
17	g.50196668A>G	CA500851462	COL1A1	c.807T>C (p.Gly269=) n.534T>C
17	g.50196668A>T	CA500851463	COL1A1	c.807T>A (p.Gly269=) n.534T>A
17	g.50196669C>A	CA291547408	COL1A1	c.806G>T (p.Gly269Val) n.533G>T	dbSNP
17	g.50196669C=	CA2263919368	COL1A1	c.806G= (p.Gly269=) n.533G=
17	g.50196669C>G	CA400222707	COL1A1	c.806G>C (p.Gly269Ala) n.533G>C	ClinVar
17	g.50196669C>T	CA400222709	COL1A1	c.806G>A (p.Gly269Asp) n.533G>A	ClinVar
17	g.50196670C>A	CA400222711	COL1A1	c.805G>T (p.Gly269Cys) n.532G>T
17	g.50196670C=	CA2263919369	COL1A1	c.805G= (p.Gly269=) n.532G=
17	g.50196670C>G	CA400222713	COL1A1	c.805G>C (p.Gly269Arg) n.532G>C	ClinVar dbSNP
17	g.50196670C>T	CA260326	COL1A1	c.805G>A (p.Gly269Ser) n.532G>A	ClinVar dbSNP
17	g.50196670_50196671insT	CA2809757460	COL1A1	c.805-1_805insA (n.805-1_805insA) n.532-1_532insA
17	g.50196670_50196671insTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGAGGCCCAGGAGGCCCACGCTCA	CA2809757462	COL1A1	c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA (n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA) n.532-1_532insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA
17	g.50196670_50196671insTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCATCAT	CA2809757461	COL1A1	c.805-1_805insATGATGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA (n.805-1_805insATGATGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA) n.532-1_532insATGATGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA
17	g.50196671C>A	CA400222721	COL1A1	c.805-1G>T (n.805-1G>T) n.532-1G>T
17	g.50196671C=	CA2263919370	COL1A1	c.805-1G= (n.805-1G=) n.532-1G=
17	g.50196671C>G	CA400222722	COL1A1	c.805-1G>C (n.805-1G>C) n.532-1G>C	ClinVar dbSNP
17	g.50196671C>T	CA400222719	COL1A1	c.805-1G>A (n.805-1G>A) n.532-1G>A	ClinVar dbSNP
17	g.50196672T>A	CA400222726	COL1A1	c.805-2A>T (n.805-2A>T) n.532-2A>T
17	g.50196672T>C	CA400222727	COL1A1	c.805-2A>G (n.805-2A>G) n.532-2A>G
17	g.50196672T>G	CA400222729	COL1A1	c.805-2A>C (n.805-2A>C) n.532-2A>C
17	g.50196672_50196673insGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGC	CA2809757464	COL1A1	c.805-3_805-2insGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACAC (n.805-3_805-2insGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACAC) n.532-3_532-2insGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACAC
17	g.50196672_50196673insGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCC	CA2809757465	COL1A1	c.805-3_805-2insGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACAC (n.805-3_805-2insGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACAC) n.532-3_532-2insGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACAC
17	g.50196674A>C	CA2638677377	COL1A1	c.805-4T>G (n.805-4T>G) n.532-4T>G	gnomAD v4
17	g.50196674_50196675insTCCTCG	CA2809757467	COL1A1	c.805-5_805-4insCGAGGA (n.805-5_805-4insCGAGGA) n.532-5_532-4insCGAGGA
17	g.50196676G>A	CA2263919372	COL1A1	c.805-6C>T (n.805-6C>T) n.532-6C>T	dbSNP
17	g.50196676G=	CA2263919371	COL1A1	c.805-6C= (n.805-6C=) n.532-6C=
17	g.50196679G>A	CA626689645	COL1A1	c.805-9C>T (n.805-9C>T) n.532-9C>T	dbSNP gnomAD v2
17	g.50196679G=	CA2263919373	COL1A1	c.805-9C= (n.805-9C=) n.532-9C=
17	g.50196679G>T	CA2638677380	COL1A1	c.805-9C>A (n.805-9C>A) n.532-9C>A	gnomAD v4
17	g.50196680G>A	CA8645531	COL1A1	c.805-10C>T (n.805-10C>T) n.532-10C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.50196680G=	CA2263919374	COL1A1	c.805-10C= (n.805-10C=) n.532-10C=
17	g.50196681A>G	CA2576317476	COL1A1	c.805-11T>C (n.805-11T>C) n.532-11T>C
17	g.50196682_50196683del	CA2576317475	COL1A1	c.805-12_805-11del (n.805-12_805-11del) n.532-12_532-11del
17	g.50196683A=	CA2263919375	COL1A1	c.805-13T= (n.805-13T=) n.532-13T=
17	g.50196683A>G	CA626689646	COL1A1	c.805-13T>C (n.805-13T>C) n.532-13T>C	dbSNP gnomAD v2 gnomAD v4
17	g.50196684G>A	CA2638677396	COL1A1	c.805-14C>T (n.805-14C>T) n.532-14C>T	gnomAD v4
17	g.50196684G>C	CA772794433	COL1A1	c.805-14C>G (n.805-14C>G) n.532-14C>G	ClinVar dbSNP gnomAD v4
17	g.50196684G=	CA2263919376	COL1A1	c.805-14C= (n.805-14C=) n.532-14C=
17	g.50196687_50196690dup	CA919856722	COL1A1	c.805-18_805-15dup (n.805-18_805-15dup) n.532-18_532-15dup	dbSNP
17	g.50196686G>C	CA626689647	COL1A1	c.805-16C>G (n.805-16C>G) n.532-16C>G	dbSNP gnomAD v2 gnomAD v4
17	g.50196686G=	CA2263919377	COL1A1	c.805-16C= (n.805-16C=) n.532-16C=
17	g.50196686G>T	CA2733666733	COL1A1	c.805-16C>A (n.805-16C>A) n.532-16C>A	dbSNP
17	g.50196689A=	CA2263919378	COL1A1	c.805-19T= (n.805-19T=) n.532-19T=
17	g.50196689A>G	CA8645532	COL1A1	c.805-19T>C (n.805-19T>C) n.532-19T>C	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.50196690_50196691del	CA2733839955	COL1A1	c.805-20_805-19del (n.805-20_805-19del) n.532-20_532-19del	dbSNP
17	g.50196691A=	CA2263919379	COL1A1	c.805-21T= (n.805-21T=) n.532-21T=
17	g.50196691A>G	CA626689648	COL1A1	c.805-21T>C (n.805-21T>C) n.532-21T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50196691_50196700dup	CA2638677401	COL1A1	c.805-30_805-21dup (n.805-30_805-21dup) n.532-30_532-21dup	gnomAD v4
17	g.50196693G>A	CA8645533	COL1A1	c.805-23C>T (n.805-23C>T) n.532-23C>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.50196693G=	CA2263919380	COL1A1	c.805-23C= (n.805-23C=) n.532-23C=
17	g.50196694G>A	CA626689649	COL1A1	c.805-24C>T (n.805-24C>T) n.532-24C>T	dbSNP gnomAD v2 gnomAD v4
17	g.50196694G=	CA2263919381	COL1A1	c.805-24C= (n.805-24C=) n.532-24C=
17	g.50196695T>C	CA8645534	COL1A1	c.805-25A>G (n.805-25A>G) n.532-25A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50196695T=	CA2263919382	COL1A1	c.805-25A= (n.805-25A=) n.532-25A=
17	g.50196696A>G	CA2809757471	COL1A1	c.805-26T>C (n.805-26T>C) n.532-26T>C
17	g.50196697A=	CA2263919383	COL1A1	c.805-27T= (n.805-27T=) n.532-27T=
17	g.50196697A>C	CA8645535	COL1A1	c.805-27T>G (n.805-27T>G) n.532-27T>G	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.50196700A=	CA2263919384	COL1A1	c.805-30T= (n.805-30T=) n.532-30T=
17	g.50196700A>G	CA984451916	COL1A1	c.805-30T>C (n.805-30T>C) n.532-30T>C	dbSNP gnomAD v3 gnomAD v4
17	g.50196701C=	CA2263919385	COL1A1	c.805-31G= (n.805-31G=) n.532-31G=
17	g.50196701C>T	CA8645536	COL1A1	c.805-31G>A (n.805-31G>A) n.532-31G>A	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.50196702C>A	CA2741540612	COL1A1	c.805-32G>T (n.805-32G>T) n.532-32G>T
17	g.50196703T>C	CA8645537	COL1A1	c.805-33A>G (n.805-33A>G) n.532-33A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50196703T=	CA2263919386	COL1A1	c.805-33A= (n.805-33A=) n.532-33A=
17	g.50196704G>A	CA291547427	COL1A1	c.805-34C>T (n.805-34C>T) n.532-34C>T	dbSNP gnomAD v2 gnomAD v4
17	g.50196704G=	CA2263919387	COL1A1	c.805-34C= (n.805-34C=) n.532-34C=
17	g.50196706G>A	CA2576317480	COL1A1	c.805-36C>T (n.805-36C>T) n.532-36C>T
17	g.50196707G>T	CA2638677411	COL1A1	c.805-37C>A (n.805-37C>A) n.532-37C>A	gnomAD v4
17	g.50196708A>G	CA2638677413	COL1A1	c.805-38T>C (n.805-38T>C) n.532-38T>C	gnomAD v4
17	g.50196709G>A	CA8645538	COL1A1	c.805-39C>T (n.805-39C>T) n.532-39C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50196709G=	CA2263919388	COL1A1	c.805-39C= (n.805-39C=) n.532-39C=
17	g.50196709G>T	CA2638677417	COL1A1	c.805-39C>A (n.805-39C>A) n.532-39C>A	gnomAD v4
17	g.50196713dup	CA2576317481	COL1A1	c.805-39dup (n.805-39dup) n.532-39dup	gnomAD v4
17	g.50196710G>C	CA8645539	COL1A1	c.805-40C>G (n.805-40C>G) n.532-40C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50196710G=	CA2263919389	COL1A1	c.805-40C= (n.805-40C=) n.532-40C=
17	g.50196710G>T	CA2638677419	COL1A1	c.805-40C>A (n.805-40C>A) n.532-40C>A	gnomAD v4

Number of alleles fetched