Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.50198433_50199305delinsA	CA2573131850	COL1A1	c.392_543delinsT
17	g.50199211G>A	CA2638681484	COL1A1	c.471+15C>T (n.471+15C>T)	gnomAD v4
17	g.50199211G>T	CA2638681486	COL1A1	c.471+15C>A (n.471+15C>A)	gnomAD v4
17	g.50199212G>A	CA626486263	COL1A1	c.471+14C>T (n.471+14C>T)	dbSNP gnomAD v2
17	g.50199212G>C	CA8645697	COL1A1	c.471+14C>G (n.471+14C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199212G=	CA2263920581	COL1A1	c.471+14C= (n.471+14C=)
17	g.50199213C>A	CA2638681504	COL1A1	c.471+13G>T (n.471+13G>T)	gnomAD v4
17	g.50199213C>T	CA2576317755	COL1A1	c.471+13G>A (n.471+13G>A)	gnomAD v4
17	g.50199214C>A	CA2638681512	COL1A1	c.471+12G>T (n.471+12G>T)	gnomAD v4
17	g.50199214C>T	CA2638681511	COL1A1	c.471+12G>A (n.471+12G>A)	gnomAD v4
17	g.50199215_50199218dup	CA2580612656	COL1A1	c.471+9_471+12dup (n.471+9_471+12dup)	ClinVar gnomAD v4
17	g.50199215T>G	CA2263920583	COL1A1	c.471+11A>C (n.471+11A>C)	dbSNP
17	g.50199215T=	CA2263920582	COL1A1	c.471+11A= (n.471+11A=)
17	g.50199216C>A	CA2638681519	COL1A1	c.471+10G>T (n.471+10G>T)	gnomAD v4
17	g.50199217T>C	CA2638681524	COL1A1	c.471+9A>G (n.471+9A>G)	gnomAD v4
17	g.50199219C>T	CA2638681527	COL1A1	c.471+7G>A (n.471+7G>A)	gnomAD v4
17	g.50199220A=	CA2263920584	COL1A1	c.471+6T= (n.471+6T=)
17	g.50199220A>G	CA772776383	COL1A1	c.471+6T>C (n.471+6T>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.50199220A>T	CA2809770995	COL1A1	c.471+6T>A (n.471+6T>A)
17	g.50199221C>A	CA658798906	COL1A1	c.471+5G>T (n.471+5G>T)	ClinVar dbSNP
17	g.50199221C=	CA2263920585	COL1A1	c.471+5G= (n.471+5G=)
17	g.50199221C>G	CA2573054490	COL1A1	c.471+5G>C (n.471+5G>C)	ClinVar dbSNP
17	g.50199221C>T	CA2573154234	COL1A1	c.471+5G>A (n.471+5G>A)	ClinVar dbSNP gnomAD v4
17	g.50199223T>C	CA2638681564	COL1A1	c.471+3A>G (n.471+3A>G)	gnomAD v4
17	g.50199224A>C	CA400227206	COL1A1	c.471+2T>G (n.471+2T>G)
17	g.50199224A>G	CA400227201	COL1A1	c.471+2T>C (n.471+2T>C)	gnomAD v4
17	g.50199224A>T	CA400227204	COL1A1	c.471+2T>A (n.471+2T>A)
17	g.50199225C>A	CA400227210	COL1A1	c.471+1G>T (n.471+1G>T)	gnomAD v4
17	g.50199225C=	CA2263920586	COL1A1	c.471+1G= (n.471+1G=)
17	g.50199225C>G	CA400227213	COL1A1	c.471+1G>C (n.471+1G>C)
17	g.50199225C>T	CA291550331	COL1A1	c.471+1G>A (n.471+1G>A)	dbSNP gnomAD v4
17	g.50199226T>A	CA500852131	COL1A1	c.471A>T (p.Gly157=)
17	g.50199226T>C	CA500852132	COL1A1	c.471A>G (p.Gly157=)	gnomAD v4
17	g.50199226T>G	CA500852130	COL1A1	c.471A>C (p.Gly157=)
17	g.50199227C>A	CA400227215	COL1A1	c.470G>T (p.Gly157Val)	gnomAD v4
17	g.50199227C>G	CA400227216	COL1A1	c.470G>C (p.Gly157Ala)
17	g.50199227C>T	CA400227217	COL1A1	c.470G>A (p.Gly157Glu)
17	g.50199228C>A	CA400227220	COL1A1	c.469G>T (p.Gly157Ter)
17	g.50199228C>G	CA400227221	COL1A1	c.469G>C (p.Gly157Arg)	gnomAD v4
17	g.50199228C>T	CA400227223	COL1A1	c.469G>A (p.Gly157Arg)
17	g.50199229T>A	CA500852133	COL1A1	c.468A>T (p.Gly156=)
17	g.50199229T>C	CA500852134	COL1A1	c.468A>G (p.Gly156=)	dbSNP
17	g.50199229T>G	CA500852135	COL1A1	c.468A>C (p.Gly156=)
17	g.50199229T=	CA2263920587	COL1A1	c.468A= (p.Gly156=)
17	g.50199230C>A	CA400227225	COL1A1	c.467G>T (p.Gly156Val)
17	g.50199230C>G	CA400227227	COL1A1	c.467G>C (p.Gly156Ala)
17	g.50199230C>T	CA400227230	COL1A1	c.467G>A (p.Gly156Glu)	gnomAD v4
17	g.50199231C>A	CA400227234	COL1A1	c.466G>T (p.Gly156Ter)	gnomAD v4
17	g.50199231C=	CA2263920588	COL1A1	c.466G= (p.Gly156=)
17	g.50199231C>G	CA400227236	COL1A1	c.466G>C (p.Gly156Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.50199231C>T	CA8645698	COL1A1	c.466G>A (p.Gly156Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199232G>A	CA500852136	COL1A1	c.465C>T (p.Leu155=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199232G>C	CA500852137	COL1A1	c.465C>G (p.Leu155=)
17	g.50199232G=	CA2263920589	COL1A1	c.465C= (p.Leu155=)
17	g.50199232G>T	CA500852138	COL1A1	c.465C>A (p.Leu155=)	gnomAD v4
17	g.50199236_50199252del	CA2695226552	COL1A1	c.449_465del (p.Pro150ArgfsTer13)
17	g.50199233A>C	CA400227240	COL1A1	c.464T>G (p.Leu155Arg)
17	g.50199233A>G	CA400227242	COL1A1	c.464T>C (p.Leu155Pro)
17	g.50199233A>T	CA400227245	COL1A1	c.464T>A (p.Leu155His)
17	g.50199234G>A	CA400227247	COL1A1	c.463C>T (p.Leu155Phe)
17	g.50199234G>C	CA400227249	COL1A1	c.463C>G (p.Leu155Val)	dbSNP gnomAD v3 gnomAD v4
17	g.50199234G=	CA2263920590	COL1A1	c.463C= (p.Leu155=)
17	g.50199234G>T	CA400227252	COL1A1	c.463C>A (p.Leu155Ile)
17	g.50199244_50199315del	CA2638681625	COL1A1	c.392_463del (p.Arg131_Gly154del)	gnomAD v4
17	g.50199235G>A	CA8645699	COL1A1	c.462C>T (p.Gly154=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199235G>C	CA500852139	COL1A1	c.462C>G (p.Gly154=)
17	g.50199235G=	CA2263920591	COL1A1	c.462C= (p.Gly154=)
17	g.50199235G>T	CA500852140	COL1A1	c.462C>A (p.Gly154=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199236C>A	CA400227255	COL1A1	c.461G>T (p.Gly154Val)
17	g.50199236C>G	CA400227258	COL1A1	c.461G>C (p.Gly154Ala)
17	g.50199236C>T	CA400227256	COL1A1	c.461G>A (p.Gly154Asp)
17	g.50199237C>A	CA400227260	COL1A1	c.460G>T (p.Gly154Cys)
17	g.50199237C>G	CA400227263	COL1A1	c.460G>C (p.Gly154Arg)
17	g.50199237C>T	CA400227266	COL1A1	c.460G>A (p.Gly154Ser)	gnomAD v4
17	g.50199237_50199238delinsCA	CA2263920592	COL1A1	c.459_460delinsTG (p.Pro153=)
17	g.50199238del	CA291550343	COL1A1	c.459del (p.Gly154AlafsTer?)	ClinVar dbSNP
17	g.50199238A=	CA2263920595	COL1A1	c.459T= (p.Pro153=)
17	g.50199238A>C	CA500852143	COL1A1	c.459T>G (p.Pro153=)	gnomAD v4
17	g.50199238A>G	CA500852141	COL1A1	c.459T>C (p.Pro153=)	ClinVar dbSNP gnomAD v4
17	g.50199238A>T	CA500852142	COL1A1	c.459T>A (p.Pro153=)	COSMIC
17	g.50199238_50199239delinsAG	CA2263920593	COL1A1	c.458_459delinsCT (p.Pro153=)
17	g.50199238_50199256delinsAGGGGGTCCGGGAGGTCCG	CA2263920594	COL1A1	c.441_459delinsCGGACCTCCCGGACCCCCT (p.Pro147=)
17	g.50199239G>A	CA400227274	COL1A1	c.458C>T (p.Pro153Leu)	gnomAD v4
17	g.50199239G>C	CA400227276	COL1A1	c.458C>G (p.Pro153Arg)
17	g.50199239G>T	CA400227275	COL1A1	c.458C>A (p.Pro153His)	gnomAD v4
17	g.50199243dup	CA645293910	COL1A1	c.458dup (p.Gly154TrpfsTer15)	ClinVar dbSNP
17	g.50199243del	CA915950624	COL1A1	c.458del (p.Pro153LeufsTer?)	ClinVar dbSNP gnomAD v4
17	g.50199241_50199249dup	CA2842164339	COL1A1	c.450_458dup (p.Pro153_Gly154insGlyProPro)
17	g.50199250_50199267dup	CA2638681687	COL1A1	c.441_458dup (p.Pro153_Gly154insGlyProProGlyProPro)	ClinVar gnomAD v4
17	g.50199250_50199267del	CA500852144	COL1A1	c.441_458del (p.Gly148_Pro153del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199251_50199277del	CA2573154235	COL1A1	c.432_458del (p.Gly145_Pro153del)	ClinVar dbSNP gnomAD v4
17	g.50199240G>A	CA400227277	COL1A1	c.457C>T (p.Pro153Ser)	ClinVar gnomAD v4
17	g.50199240G>C	CA400227278	COL1A1	c.457C>G (p.Pro153Ala)	gnomAD v4
17	g.50199240G>T	CA400227280	COL1A1	c.457C>A (p.Pro153Thr)	gnomAD v4
17	g.50199241G>A	CA500852145	COL1A1	c.456C>T (p.Pro152=)	gnomAD v4
17	g.50199241G>C	CA500852146	COL1A1	c.456C>G (p.Pro152=)
17	g.50199241G>T	CA500852147	COL1A1	c.456C>A (p.Pro152=)	gnomAD v4
17	g.50199241_50199250delinsGGGTCCGGGA	CA2263920596	COL1A1	c.447_456delinsTCCCGGACCC (p.Pro149=)
17	g.50199242G>A	CA400227281	COL1A1	c.455C>T (p.Pro152Leu)	gnomAD v4
17	g.50199242G>C	CA400227282	COL1A1	c.455C>G (p.Pro152Arg)	gnomAD v4
17	g.50199242G=	CA2263920597	COL1A1	c.455C= (p.Pro152=)
17	g.50199242G>T	CA400227283	COL1A1	c.455C>A (p.Pro152His)	dbSNP gnomAD v3 gnomAD v4
17	g.50199258_50199259insAGGTCCGGGAGGTCCGGG	CA626486269	COL1A1	c.455_456insTCCCGGACCTCCCGGACC (p.Pro152_Pro153insProGlyProProGlyPro)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.50199250_50199258dup	CA2576317756	COL1A1	c.447_455dup (p.Pro152_Pro153insProGlyPro)	gnomAD v4
17	g.50199250_50199258del	CA626486268	COL1A1	c.447_455del (p.Pro150_Pro152del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199243G>A	CA400227285	COL1A1	c.454C>T (p.Pro152Ser)
17	g.50199243G>C	CA400227286	COL1A1	c.454C>G (p.Pro152Ala)
17	g.50199243G=	CA2263920598	COL1A1	c.454C= (p.Pro152=)
17	g.50199243G>T	CA400227288	COL1A1	c.454C>A (p.Pro152Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.50199244T>A	CA500852148	COL1A1	c.453A>T (p.Gly151=)	dbSNP gnomAD v2 gnomAD v4
17	g.50199244T>C	CA500852149	COL1A1	c.453A>G (p.Gly151=)
17	g.50199244T>G	CA500852150	COL1A1	c.453A>C (p.Gly151=)
17	g.50199244T=	CA2263920599	COL1A1	c.453A= (p.Gly151=)
17	g.50199245C>A	CA400227289	COL1A1	c.452G>T (p.Gly151Val)	gnomAD v4
17	g.50199245C=	CA2263920600	COL1A1	c.452G= (p.Gly151=)
17	g.50199245C>G	CA400227291	COL1A1	c.452G>C (p.Gly151Ala)
17	g.50199245C>T	CA291550346	COL1A1	c.452G>A (p.Gly151Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199246dup	CA2573050781	COL1A1	c.452dup (p.Pro152ThrfsTer17)	ClinVar dbSNP
17	g.50199246C>A	CA400227294	COL1A1	c.451G>T (p.Gly151Ter)	gnomAD v4
17	g.50199246C>G	CA400227292	COL1A1	c.451G>C (p.Gly151Arg)
17	g.50199246C>T	CA400227293	COL1A1	c.451G>A (p.Gly151Arg)	ClinVar
17	g.50199247G>A	CA500852151	COL1A1	c.450C>T (p.Pro150=)	gnomAD v4
17	g.50199247G>C	CA500852152	COL1A1	c.450C>G (p.Pro150=)	gnomAD v4
17	g.50199247G>T	CA500852153	COL1A1	c.450C>A (p.Pro150=)	gnomAD v4
17	g.50199248G>A	CA400227295	COL1A1	c.449C>T (p.Pro150Leu)	ClinVar gnomAD v4
17	g.50199248G>C	CA400227297	COL1A1	c.449C>G (p.Pro150Arg)
17	g.50199248G>T	CA400227298	COL1A1	c.449C>A (p.Pro150His)	gnomAD v4
17	g.50199249G>A	CA400227300	COL1A1	c.448C>T (p.Pro150Ser)	gnomAD v4
17	g.50199249G>C	CA400227301	COL1A1	c.448C>G (p.Pro150Ala)	gnomAD v4
17	g.50199249G>T	CA400227302	COL1A1	c.448C>A (p.Pro150Thr)
17	g.50199250A=	CA2263920602	COL1A1	c.447T= (p.Pro149=)
17	g.50199250A>C	CA500852154	COL1A1	c.447T>G (p.Pro149=)
17	g.50199250A>G	CA500852155	COL1A1	c.447T>C (p.Pro149=)	dbSNP gnomAD v2 gnomAD v4
17	g.50199250A>T	CA500852156	COL1A1	c.447T>A (p.Pro149=)
17	g.50199250_50199259delinsAGGTCCGGGG	CA2263920601	COL1A1	c.438_447delinsCCCCGGACCT (p.Pro146=)
17	g.50199251G>A	CA400227307	COL1A1	c.446C>T (p.Pro149Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199251G>C	CA400227304	COL1A1	c.446C>G (p.Pro149Arg)
17	g.50199251G=	CA2263920603	COL1A1	c.446C= (p.Pro149=)
17	g.50199251G>T	CA400227305	COL1A1	c.446C>A (p.Pro149His)
17	g.50199268_50199276dup	CA8645700	COL1A1	c.438_446dup (p.Pro149_Pro150insProGlyPro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199268_50199276del	CA626486271	COL1A1	c.438_446del (p.Pro147_Pro149del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199259_50199276del	CA2638681844	COL1A1	c.429_446del (p.Pro144_Pro149del)	gnomAD v4
17	g.50199252G>A	CA400227309	COL1A1	c.445C>T (p.Pro149Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.50199252G>C	CA400227311	COL1A1	c.445C>G (p.Pro149Ala)
17	g.50199252G=	CA2263920604	COL1A1	c.445C= (p.Pro149=)
17	g.50199252G>T	CA400227312	COL1A1	c.445C>A (p.Pro149Thr)	gnomAD v4
17	g.50199253T>A	CA500852159	COL1A1	c.444A>T (p.Gly148=)
17	g.50199253T>C	CA500852158	COL1A1	c.444A>G (p.Gly148=)
17	g.50199253T>G	CA500852157	COL1A1	c.444A>C (p.Gly148=)
17	g.50199254C>A	CA400227313	COL1A1	c.443G>T (p.Gly148Val)
17	g.50199254C>G	CA400227315	COL1A1	c.443G>C (p.Gly148Ala)
17	g.50199254C>T	CA400227317	COL1A1	c.443G>A (p.Gly148Glu)
17	g.50199255dup	CA2739291025	COL1A1	c.443dup (p.Pro149ThrfsTer20)
17	g.50199255C>A	CA400227318	COL1A1	c.442G>T (p.Gly148Ter)	gnomAD v4
17	g.50199255C>G	CA400227321	COL1A1	c.442G>C (p.Gly148Arg)
17	g.50199255C>T	CA400227320	COL1A1	c.442G>A (p.Gly148Arg)	gnomAD v4
17	g.50199255_50199256delinsCG	CA2263920605	COL1A1	c.441_442delinsCG (p.Pro147=)
17	g.50199256G>A	CA500852160	COL1A1	c.441C>T (p.Pro147=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199256G>C	CA500852161	COL1A1	c.441C>G (p.Pro147=)	dbSNP gnomAD v2 gnomAD v4
17	g.50199256G=	CA2263920606	COL1A1	c.441C= (p.Pro147=)
17	g.50199256G>T	CA500852162	COL1A1	c.441C>A (p.Pro147=)	gnomAD v4
17	g.50199256delinsTGA	CA2695226553	COL1A1	c.441delinsTCA (p.Gly148GlnfsTer?)
17	g.50199261dup	CA2638681886	COL1A1	c.441dup (p.Gly148ArgfsTer21)	gnomAD v4
17	g.50199261del	CA626486275	COL1A1	c.441del (p.Gly148AspfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.50199257G>A	CA400227323	COL1A1	c.440C>T (p.Pro147Leu)
17	g.50199257G>C	CA400227324	COL1A1	c.440C>G (p.Pro147Arg)	dbSNP
17	g.50199257G=	CA2263920607	COL1A1	c.440C= (p.Pro147=)
17	g.50199257G>T	CA400227326	COL1A1	c.440C>A (p.Pro147His)	gnomAD v4
17	g.50199258G>A	CA400227327	COL1A1	c.439C>T (p.Pro147Ser)	ClinVar gnomAD v4
17	g.50199258G>C	CA400227329	COL1A1	c.439C>G (p.Pro147Ala)	gnomAD v4
17	g.50199258G>T	CA400227330	COL1A1	c.439C>A (p.Pro147Thr)
17	g.50199259G>A	CA291550373	COL1A1	c.438C>T (p.Pro146=)	dbSNP gnomAD v4
17	g.50199259G>C	CA500852163	COL1A1	c.438C>G (p.Pro146=)
17	g.50199259G=	CA2263920608	COL1A1	c.438C= (p.Pro146=)
17	g.50199259G>T	CA500852164	COL1A1	c.438C>A (p.Pro146=)	gnomAD v4
17	g.50199260G>A	CA400227332	COL1A1	c.437C>T (p.Pro146Leu)	gnomAD v4
17	g.50199260G>C	CA400227334	COL1A1	c.437C>G (p.Pro146Arg)
17	g.50199260G>T	CA400227335	COL1A1	c.437C>A (p.Pro146His)	gnomAD v4
17	g.50199261G>A	CA8645702	COL1A1	c.436C>T (p.Pro146Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199261G>C	CA400227337	COL1A1	c.436C>G (p.Pro146Ala)	ClinVar dbSNP gnomAD v4
17	g.50199261G=	CA2263920609	COL1A1	c.436C= (p.Pro146=)
17	g.50199261G>T	CA8645701	COL1A1	c.436C>A (p.Pro146Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199262T>A	CA500852165	COL1A1	c.435A>T (p.Gly145=)
17	g.50199262T>C	CA500852166	COL1A1	c.435A>G (p.Gly145=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199262T>G	CA500852167	COL1A1	c.435A>C (p.Gly145=)
17	g.50199262T=	CA2263920610	COL1A1	c.435A= (p.Gly145=)
17	g.50199263C>A	CA400227340	COL1A1	c.434G>T (p.Gly145Val)
17	g.50199263C>G	CA400227338	COL1A1	c.434G>C (p.Gly145Ala)
17	g.50199263C>T	CA400227339	COL1A1	c.434G>A (p.Gly145Glu)
17	g.50199263_50199264insG	CA2695226554	COL1A1	c.433_434insC (p.Gly145AlafsTer24)
17	g.50199264C>A	CA400227341	COL1A1	c.433G>T (p.Gly145Ter)	gnomAD v4
17	g.50199264C=	CA2263920612	COL1A1	c.433G= (p.Gly145=)
17	g.50199264C>G	CA400227342	COL1A1	c.433G>C (p.Gly145Arg)
17	g.50199264C>T	CA400227343	COL1A1	c.433G>A (p.Gly145Arg)	ClinVar dbSNP gnomAD v4
17	g.50199264_50199265delinsCG	CA2263920611	COL1A1	c.432_433delinsCG (p.Pro144=)
17	g.50199264_50199274delinsA	CA2739291026	COL1A1	c.423_433delinsT (p.Gly142AspfsTer?)
17	g.50199265G>A	CA500852170	COL1A1	c.432C>T (p.Pro144=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.50199265G>C	CA500852169	COL1A1	c.432C>G (p.Pro144=)	dbSNP gnomAD v4
17	g.50199265G=	CA2263920613	COL1A1	c.432C= (p.Pro144=)
17	g.50199265G>T	CA500852168	COL1A1	c.432C>A (p.Pro144=)	gnomAD v4
17	g.50199270dup	CA645293911	COL1A1	c.432dup (p.Gly145ArgfsTer24)	ClinVar dbSNP gnomAD v4
17	g.50199270del	CA291550378	COL1A1	c.432del (p.Gly145AspfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.50199266G>A	CA400227344	COL1A1	c.431C>T (p.Pro144Leu)	gnomAD v4
17	g.50199266G>C	CA400227345	COL1A1	c.431C>G (p.Pro144Arg)	gnomAD v4
17	g.50199266G>T	CA400227346	COL1A1	c.431C>A (p.Pro144His)	gnomAD v4
17	g.50199267G>A	CA291550395	COL1A1	c.430C>T (p.Pro144Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.50199267G>C	CA400227347	COL1A1	c.430C>G (p.Pro144Ala)	gnomAD v4
17	g.50199267G=	CA2263920614	COL1A1	c.430C= (p.Pro144=)
17	g.50199267G>T	CA400227348	COL1A1	c.430C>A (p.Pro144Thr)	gnomAD v4
17	g.50199268G>A	CA500852171	COL1A1	c.429C>T (p.Pro143=)	ClinVar gnomAD v4
17	g.50199268G>C	CA500852173	COL1A1	c.429C>G (p.Pro143=)
17	g.50199268G>T	CA500852172	COL1A1	c.429C>A (p.Pro143=)	gnomAD v4
17	g.50199269G>A	CA400227349	COL1A1	c.428C>T (p.Pro143Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.50199269G>C	CA400227350	COL1A1	c.428C>G (p.Pro143Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199269G=	CA2263920615	COL1A1	c.428C= (p.Pro143=)
17	g.50199269G>T	CA291550399	COL1A1	c.428C>A (p.Pro143His)	dbSNP gnomAD v4
17	g.50199270G>A	CA291550400	COL1A1	c.427C>T (p.Pro143Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199270G>C	CA400227351	COL1A1	c.427C>G (p.Pro143Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.50199270G=	CA2263920616	COL1A1	c.427C= (p.Pro143=)
17	g.50199270G>T	CA400227352	COL1A1	c.427C>A (p.Pro143Thr)	gnomAD v4
17	g.50199271T>A	CA500852176	COL1A1	c.426A>T (p.Gly142=)
17	g.50199271T>C	CA500852175	COL1A1	c.426A>G (p.Gly142=)	gnomAD v4
17	g.50199271T>G	CA500852174	COL1A1	c.426A>C (p.Gly142=)
17	g.50199272C>A	CA400227353	COL1A1	c.425G>T (p.Gly142Val)	gnomAD v4
17	g.50199272C>G	CA400227354	COL1A1	c.425G>C (p.Gly142Ala)
17	g.50199272C>T	CA400227355	COL1A1	c.425G>A (p.Gly142Glu)	gnomAD v4
17	g.50199273C>A	CA400227356	COL1A1	c.424G>T (p.Gly142Ter)	gnomAD v4
17	g.50199273C=	CA2263920617	COL1A1	c.424G= (p.Gly142=)
17	g.50199273C>G	CA400227357	COL1A1	c.424G>C (p.Gly142Arg)
17	g.50199273C>T	CA400227358	COL1A1	c.424G>A (p.Gly142Arg)	ClinVar dbSNP gnomAD v4
17	g.50199274G>A	CA500852177	COL1A1	c.423C>T (p.Pro141=)	dbSNP gnomAD v2 gnomAD v4
17	g.50199274G>C	CA500852179	COL1A1	c.423C>G (p.Pro141=)
17	g.50199274G=	CA2263920618	COL1A1	c.423C= (p.Pro141=)
17	g.50199274G>T	CA500852178	COL1A1	c.423C>A (p.Pro141=)
17	g.50199276del	CA2580094384	COL1A1	c.423del (p.Gly142AspfsTer?)	ClinVar
17	g.50199275G>A	CA400227360	COL1A1	c.422C>T (p.Pro141Leu)	gnomAD v4
17	g.50199275G>C	CA400227362	COL1A1	c.422C>G (p.Pro141Arg)
17	g.50199275G>T	CA400227363	COL1A1	c.422C>A (p.Pro141His)
17	g.50199276G>A	CA400227365	COL1A1	c.421C>T (p.Pro141Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.50199276G>C	CA400227366	COL1A1	c.421C>G (p.Pro141Ala)
17	g.50199276G=	CA2263920619	COL1A1	c.421C= (p.Pro141=)
17	g.50199276G>T	CA400227368	COL1A1	c.421C>A (p.Pro141Thr)
17	g.50199277A>C	CA500852180	COL1A1	c.420T>G (p.Leu140=)
17	g.50199277A>G	CA500852181	COL1A1	c.420T>C (p.Leu140=)
17	g.50199277A>T	CA500852182	COL1A1	c.420T>A (p.Leu140=)
17	g.50199277_50199278delinsAA	CA2263920620	COL1A1	c.419_420delinsTT (p.Leu140=)
17	g.50199277_50199278delinsGG	CA658656725	COL1A1	c.419_420delinsCC (p.Leu140Pro)	ClinVar dbSNP
17	g.50199278A>C	CA400227371	COL1A1	c.419T>G (p.Leu140Arg) n.640T>G
17	g.50199278A>G	CA400227374	COL1A1	c.419T>C (p.Leu140Pro) n.640T>C
17	g.50199278A>T	CA400227372	COL1A1	c.419T>A (p.Leu140His) n.640T>A
17	g.50199278_50199281del	CA2695226555	COL1A1	c.416_419del (p.Gly139ValfsTer?) n.637_640del
17	g.50199278_50199284dup	CA2831039644	COL1A1	c.413_419dup (p.Pro141TrpfsTer30)
17	g.50199279G>A	CA400227377	COL1A1	c.418C>T (p.Leu140Phe) n.639C>T	dbSNP gnomAD v2 gnomAD v4
17	g.50199279G>C	CA400227380	COL1A1	c.418C>G (p.Leu140Val) n.639C>G	dbSNP gnomAD v3 gnomAD v4
17	g.50199279G=	CA2263920621	COL1A1	c.418C= (p.Leu140=) n.639C=
17	g.50199279G>T	CA400227379	COL1A1	c.418C>A (p.Leu140Ile) n.639C>A	gnomAD v4
17	g.50199280T>A	CA500852183	COL1A1	c.417A>T (p.Gly139=) n.638A>T
17	g.50199280T>C	CA500852184	COL1A1	c.417A>G (p.Gly139=) n.638A>G
17	g.50199280T>G	CA500852185	COL1A1	c.417A>C (p.Gly139=) n.638A>C
17	g.50199281C>A	CA400227382	COL1A1	c.416G>T (p.Gly139Val) n.637G>T	gnomAD v4
17	g.50199281C>G	CA400227384	COL1A1	c.416G>C (p.Gly139Ala) n.637G>C
17	g.50199281C>T	CA400227386	COL1A1	c.416G>A (p.Gly139Glu) n.637G>A	gnomAD v4
17	g.50199282del	CA2576317757	COL1A1	c.416del (p.Gly139AspfsTer?) n.637del
17	g.50199282C>A	CA400227388	COL1A1	c.415G>T (p.Gly139Ter) n.636G>T	ClinVar gnomAD v4
17	g.50199282C>G	CA400227390	COL1A1	c.415G>C (p.Gly139Arg) n.636G>C
17	g.50199282C>T	CA400227392	COL1A1	c.415G>A (p.Gly139Arg) n.636G>A
17	g.50199283A>C	CA500852186	COL1A1	c.414T>G (p.Pro138=) n.635T>G	ClinVar dbSNP
17	g.50199283A>G	CA500852187	COL1A1	c.414T>C (p.Pro138=) n.635T>C	gnomAD v4
17	g.50199283A>T	CA500852188	COL1A1	c.414T>A (p.Pro138=) n.635T>A
17	g.50199284G>A	CA400227395	COL1A1	c.413C>T (p.Pro138Leu) n.634C>T	dbSNP
17	g.50199284G>C	CA400227396	COL1A1	c.413C>G (p.Pro138Arg) n.634C>G	gnomAD v4
17	g.50199284G=	CA2263920622	COL1A1	c.413C= (p.Pro138=) n.634C=
17	g.50199284G>T	CA400227397	COL1A1	c.413C>A (p.Pro138His) n.634C>A	gnomAD v4 COSMIC
17	g.50199285_50199288del	CA2695226556	COL1A1	c.410_413del (p.Gln137LeufsTer?) n.631_634del
17	g.50199285G>A	CA400227399	COL1A1	c.412C>T (p.Pro138Ser) n.633C>T
17	g.50199285G>C	CA400227400	COL1A1	c.412C>G (p.Pro138Ala) n.633C>G
17	g.50199285G>T	CA400227402	COL1A1	c.412C>A (p.Pro138Thr) n.633C>A	gnomAD v4
17	g.50199286C>A	CA400227404	COL1A1	c.411G>T (p.Gln137His) n.632G>T	gnomAD v4
17	g.50199286C>G	CA400227405	COL1A1	c.411G>C (p.Gln137His) n.632G>C	gnomAD v4
17	g.50199286C>T	CA500852189	COL1A1	c.411G>A (p.Gln137=) n.632G>A	ClinVar gnomAD v4
17	g.50199287T>A	CA400227407	COL1A1	c.410A>T (p.Gln137Leu) n.631A>T	gnomAD v4
17	g.50199287T>C	CA400227409	COL1A1	c.410A>G (p.Gln137Arg) n.631A>G	gnomAD v4
17	g.50199287T>G	CA400227411	COL1A1	c.410A>C (p.Gln137Pro) n.631A>C
17	g.50199288G>A	CA400227413	COL1A1	c.409C>T (p.Gln137Ter) n.630C>T	ClinVar gnomAD v4
17	g.50199288G>C	CA400227415	COL1A1	c.409C>G (p.Gln137Glu) n.630C>G
17	g.50199288G>T	CA400227417	COL1A1	c.409C>A (p.Gln137Lys) n.630C>A	gnomAD v4
17	g.50199289T>A	CA500852190	COL1A1	c.408A>T (p.Gly136=) n.629A>T c.462A>T (p.Gly154=)	gnomAD v4
17	g.50199289T>C	CA8645703	COL1A1	c.408A>G (p.Gly136=) n.629A>G c.462A>G (p.Gly154=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199289T>G	CA500852191	COL1A1	c.408A>C (p.Gly136=) n.629A>C c.462A>C (p.Gly154=)
17	g.50199289T=	CA2263920623	COL1A1	c.408A= (p.Gly136=) n.629A= c.462A= (p.Gly154=)
17	g.50199290C>A	CA400227421	COL1A1	c.407G>T (p.Gly136Val) n.628G>T c.461G>T (p.Gly154Val)	gnomAD v4
17	g.50199290C>G	CA400227422	COL1A1	c.407G>C (p.Gly136Ala) n.628G>C c.461G>C (p.Gly154Ala)
17	g.50199290C>T	CA400227423	COL1A1	c.407G>A (p.Gly136Glu) n.628G>A c.461G>A (p.Gly154Glu)	gnomAD v4 COSMIC
17	g.50199291dup	CA2695226557	COL1A1	c.407dup (p.Gln137ThrfsTer?) n.628dup c.461dup (p.Gly154=)
17	g.50199291C>A	CA400227426	COL1A1	c.406G>T (p.Gly136Ter) n.627G>T c.460G>T (p.Gly154Ter)	gnomAD v4
17	g.50199291C>G	CA400227428	COL1A1	c.406G>C (p.Gly136Arg) n.627G>C c.460G>C (p.Gly154Arg)
17	g.50199291C>T	CA400227429	COL1A1	c.406G>A (p.Gly136Arg) n.627G>A c.460G>A (p.Gly154Arg)
17	g.50199292A>C	CA500852192	COL1A1	c.405T>G (p.Pro135=) n.626T>G c.459T>G (p.Pro153=)
17	g.50199292A>G	CA500852193	COL1A1	c.405T>C (p.Pro135=) n.626T>C c.459T>C (p.Pro153=)	ClinVar gnomAD v4
17	g.50199292A>T	CA500852194	COL1A1	c.405T>A (p.Pro135=) n.626T>A c.459T>A (p.Pro153=)
17	g.50199293G>A	CA400227433	COL1A1	c.404C>T (p.Pro135Leu) n.625C>T c.458C>T (p.Pro153Leu)
17	g.50199293G>C	CA400227435	COL1A1	c.404C>G (p.Pro135Arg) n.625C>G c.458C>G (p.Pro153Arg)	ClinVar dbSNP
17	g.50199293G>T	CA400227434	COL1A1	c.404C>A (p.Pro135His) n.625C>A c.458C>A (p.Pro153His)	gnomAD v4
17	g.50199294G>A	CA400227437	COL1A1	c.403C>T (p.Pro135Ser) n.624C>T c.457C>T (p.Pro153Ser)
17	g.50199294G>C	CA400227439	COL1A1	c.403C>G (p.Pro135Ala) n.624C>G c.457C>G (p.Pro153Ala)
17	g.50199294G>T	CA400227440	COL1A1	c.403C>A (p.Pro135Thr) n.624C>A c.457C>A (p.Pro153Thr)
17	g.50199295G>A	CA500852195	COL1A1	c.402C>T (p.Ile134=) n.623C>T c.456C>T (p.Ile152=)	dbSNP gnomAD v3 gnomAD v4
17	g.50199295G>C	CA400227441	COL1A1	c.402C>G (p.Ile134Met) n.623C>G c.456C>G (p.Ile152Met)	dbSNP gnomAD v3 gnomAD v4
17	g.50199295G=	CA2263920624	COL1A1	c.402C= (p.Ile134=) n.623C= c.456C= (p.Ile152=)
17	g.50199295G>T	CA500852196	COL1A1	c.402C>A (p.Ile134=) n.623C>A c.456C>A (p.Ile152=)	gnomAD v4
17	g.50199296A=	CA2263920625	COL1A1	c.401T= (p.Ile134=) n.622T= c.455T= (p.Ile152=)
17	g.50199296A>C	CA400227442	COL1A1	c.401T>G (p.Ile134Ser) n.622T>G c.455T>G (p.Ile152Ser)
17	g.50199296A>G	CA400227443	COL1A1	c.401T>C (p.Ile134Thr) n.622T>C c.455T>C (p.Ile152Thr)	gnomAD v4
17	g.50199296A>T	CA8645704	COL1A1	c.401T>A (p.Ile134Asn) n.622T>A c.455T>A (p.Ile152Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199296dup	CA2580094386	COL1A1	c.401dup (p.Gly136TrpfsTer?) n.622dup c.455dup (p.Gly154TrpfsTer?)	ClinVar
17	g.50199297T>A	CA400227445	COL1A1	c.400A>T (p.Ile134Phe) n.621A>T c.454A>T (p.Ile152Phe)
17	g.50199297T>C	CA400227446	COL1A1	c.400A>G (p.Ile134Val) n.621A>G c.454A>G (p.Ile152Val)
17	g.50199297T>G	CA400227447	COL1A1	c.400A>C (p.Ile134Leu) n.621A>C c.454A>C (p.Ile152Leu)
17	g.50199297dup	CA1139665715	COL1A1	c.400dup (p.Ile134AsnfsTer?) n.621dup c.454dup (p.Ile152AsnfsTer?)
17	g.50199297_50199306delinsTGCCATCTCG	CA2263920626	COL1A1	c.391_400delinsCGAGATGGCA (p.Arg131=) n.612_621delinsCGAGATGGCA c.445_454delinsCGAGATGGCA (p.Arg149=)
17	g.50199298G>A	CA8645705	COL1A1	c.399C>T (p.Gly133=) n.620C>T c.453C>T (p.Gly151=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199298G>C	CA500852197	COL1A1	c.399C>G (p.Gly133=) n.620C>G c.453C>G (p.Gly151=)
17	g.50199298G=	CA2263920628	COL1A1	c.399C= (p.Gly133=) n.620C= c.453C= (p.Gly151=)
17	g.50199298G>T	CA500852198	COL1A1	c.399C>A (p.Gly133=) n.620C>A c.453C>A (p.Gly151=)	gnomAD v4
17	g.50199302_50199310del	CA2263920627	COL1A1	c.391_399del (p.Arg131_Gly133del) n.612_620del c.445_453del (p.Arg149_Gly151del)	dbSNP
17	g.50199299C>A	CA400227454	COL1A1	c.398G>T (p.Gly133Val) n.619G>T c.452G>T (p.Gly151Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199299C=	CA2263920629	COL1A1	c.398G= (p.Gly133=) n.619G= c.452G= (p.Gly151=)
17	g.50199299C>G	CA400227452	COL1A1	c.398G>C (p.Gly133Ala) n.619G>C c.452G>C (p.Gly151Ala)
17	g.50199299C>T	CA400227450	COL1A1	c.398G>A (p.Gly133Asp) n.619G>A c.452G>A (p.Gly151Asp)	gnomAD v4
17	g.50199300C>A	CA400227456	COL1A1	c.397G>T (p.Gly133Cys) n.618G>T c.451G>T (p.Gly151Cys)
17	g.50199300C>G	CA400227458	COL1A1	c.397G>C (p.Gly133Arg) n.618G>C c.451G>C (p.Gly151Arg)
17	g.50199300C>T	CA400227460	COL1A1	c.397G>A (p.Gly133Ser) n.618G>A c.451G>A (p.Gly151Ser)
17	g.50199301A>C	CA400227462	COL1A1	c.396T>G (p.Asp132Glu) n.617T>G c.450T>G (p.Asp150Glu)
17	g.50199301A>G	CA500852199	COL1A1	c.396T>C (p.Asp132=) n.617T>C c.450T>C (p.Asp150=)	ClinVar
17	g.50199301A>T	CA400227464	COL1A1	c.396T>A (p.Asp132Glu) n.617T>A c.450T>A (p.Asp150Glu)
17	g.50199302T>A	CA400227466	COL1A1	c.395A>T (p.Asp132Val) n.616A>T c.449A>T (p.Asp150Val)	gnomAD v4
17	g.50199302T>C	CA8645706	COL1A1	c.395A>G (p.Asp132Gly) n.616A>G c.449A>G (p.Asp150Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199302T>G	CA400227468	COL1A1	c.395A>C (p.Asp132Ala) n.616A>C c.449A>C (p.Asp150Ala)
17	g.50199302T=	CA2263920630	COL1A1	c.395A= (p.Asp132=) n.616A= c.449A= (p.Asp150=)
17	g.50199304_50199305del	CA2580612658	COL1A1	c.394_395del (p.Asp132TrpfsTer?) n.615_616del c.448_449del (p.Asp150TrpfsTer?)	ClinVar dbSNP
17	g.50199303C>A	CA400227471	COL1A1	c.394G>T (p.Asp132Tyr) n.615G>T c.448G>T (p.Asp150Tyr)	gnomAD v4
17	g.50199303C>G	CA400227473	COL1A1	c.394G>C (p.Asp132His) n.615G>C c.448G>C (p.Asp150His)	gnomAD v4
17	g.50199303C>T	CA400227474	COL1A1	c.394G>A (p.Asp132Asn) n.615G>A c.448G>A (p.Asp150Asn)	gnomAD v4
17	g.50199304T>A	CA8645707	COL1A1	c.393A>T (p.Arg131=) n.614A>T c.447A>T (p.Arg149=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199304T>C	CA500852200	COL1A1	c.393A>G (p.Arg131=) n.614A>G c.447A>G (p.Arg149=)	gnomAD v4
17	g.50199304T>G	CA500852201	COL1A1	c.393A>C (p.Arg131=) n.614A>C c.447A>C (p.Arg149=)
17	g.50199304T=	CA2263920631	COL1A1	c.393A= (p.Arg131=) n.614A= c.447A= (p.Arg149=)
17	g.50199305C>A	CA400227480	COL1A1	c.392G>T (p.Arg131Leu) n.613G>T c.446G>T (p.Arg149Leu)	gnomAD v4
17	g.50199305C=	CA2263920632	COL1A1	c.392G= (p.Arg131=) n.613G= c.446G= (p.Arg149=)
17	g.50199305C>G	CA400227477	COL1A1	c.392G>C (p.Arg131Pro) n.613G>C c.446G>C (p.Arg149Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.50199305C>T	CA400227479	COL1A1	c.392G>A (p.Arg131Gln) n.613G>A c.446G>A (p.Arg149Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199306G>A	CA400227482	COL1A1	c.391C>T (p.Arg131Ter) n.612C>T c.445C>T (p.Arg149Ter)	ClinVar dbSNP gnomAD v4
17	g.50199306G>C	CA400227483	COL1A1	c.391C>G (p.Arg131Gly) n.612C>G c.445C>G (p.Arg149Gly)	gnomAD v4
17	g.50199306G=	CA2263920633	COL1A1	c.391C= (p.Arg131=) n.612C= c.445C= (p.Arg149=)
17	g.50199306G>T	CA8645708	COL1A1	c.391C>A (p.Arg131=) n.612C>A c.445C>A (p.Arg149=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199306_50199307insT	CA2695226558	COL1A1	c.390_391insA (p.Arg131ThrfsTer?) n.611_612insA c.444_445insA (p.Arg149ThrfsTer?)
17	g.50199307G>A	CA500852202	COL1A1	c.390C>T (p.Gly130=) n.611C>T c.444C>T (p.Gly148=)	gnomAD v4
17	g.50199307G>C	CA500852203	COL1A1	c.390C>G (p.Gly130=) n.611C>G c.444C>G (p.Gly148=)
17	g.50199307G=	CA2263920634	COL1A1	c.390C= (p.Gly130=) n.611C= c.444C= (p.Gly148=)
17	g.50199307G>T	CA500852204	COL1A1	c.390C>A (p.Gly130=) n.611C>A c.444C>A (p.Gly148=)	dbSNP gnomAD v4
17	g.50199307_50199308insT	CA291550411	COL1A1	c.389_390insA (p.Arg131ProfsTer?) n.610_611insA c.443_444insA (p.Arg149ProfsTer?)	dbSNP
17	g.50199308C>A	CA400227487	COL1A1	c.389G>T (p.Gly130Val) n.610G>T c.443G>T (p.Gly148Val)	gnomAD v4
17	g.50199308C>G	CA400227489	COL1A1	c.389G>C (p.Gly130Ala) n.610G>C c.443G>C (p.Gly148Ala)
17	g.50199308C>T	CA400227485	COL1A1	c.389G>A (p.Gly130Asp) n.610G>A c.443G>A (p.Gly148Asp)
17	g.50199309C>A	CA400227495	COL1A1	c.388G>T (p.Gly130Cys) n.609G>T c.442G>T (p.Gly148Cys)	ClinVar dbSNP
17	g.50199309C=	CA2263920635	COL1A1	c.388G= (p.Gly130=) n.609G= c.442G= (p.Gly148=)
17	g.50199309C>G	CA400227492	COL1A1	c.388G>C (p.Gly130Arg) n.609G>C c.442G>C (p.Gly148Arg)
17	g.50199309C>T	CA400227493	COL1A1	c.388G>A (p.Gly130Ser) n.609G>A c.442G>A (p.Gly148Ser)
17	g.50199309_50199310delinsCA	CA2263920636	COL1A1	c.387_388delinsTG (p.Pro129=) n.608_609delinsTG c.441_442delinsTG (p.Pro147=)
17	g.50199310del	CA658656726	COL1A1	c.387del (p.Gly130AlafsTer?) n.608del c.441del (p.Gly148AlafsTer?)	ClinVar dbSNP
17	g.50199310A>C	CA500852206	COL1A1	c.387T>G (p.Pro129=) n.608T>G c.441T>G (p.Pro147=)
17	g.50199310A>G	CA500852205	COL1A1	c.387T>C (p.Pro129=) n.608T>C c.441T>C (p.Pro147=)	ClinVar gnomAD v4
17	g.50199310A>T	CA500852207	COL1A1	c.387T>A (p.Pro129=) n.608T>A c.441T>A (p.Pro147=)
17	g.50199310_50199311delinsAG	CA2263920637	COL1A1	c.386_387delinsCT (p.Pro129=) n.607_608delinsCT c.440_441delinsCT (p.Pro147=)
17	g.50199311G>A	CA400227497	COL1A1	c.386C>T (p.Pro129Leu) n.607C>T c.440C>T (p.Pro147Leu)
17	g.50199311G>C	CA400227499	COL1A1	c.386C>G (p.Pro129Arg) n.607C>G c.440C>G (p.Pro147Arg)
17	g.50199311G=	CA2263920638	COL1A1	c.386C= (p.Pro129=) n.607C= c.440C= (p.Pro147=)
17	g.50199311G>T	CA291550413	COL1A1	c.386C>A (p.Pro129His) n.607C>A c.440C>A (p.Pro147His)	dbSNP gnomAD v4
17	g.50199316dup	CA645509528	COL1A1	c.386dup (p.Gly130TrpfsTer?) n.607dup c.440dup (p.Gly148TrpfsTer?)	ClinVar dbSNP gnomAD v4
17	g.50199316del	CA8645709	COL1A1	c.386del (p.Pro129LeufsTer?) n.607del c.440del (p.Pro147LeufsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched