Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.50198433_50199305delinsA	CA2573131850	COL1A1	c.392_543delinsT
17	g.50199236_50199252del	CA2695226552	COL1A1	c.449_465del (p.Pro150ArgfsTer13)
17	g.50199244_50199315del	CA2638681625	COL1A1	c.392_463del (p.Arg131_Gly154del)	gnomAD v4
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.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

Number of alleles fetched