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.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.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

Number of alleles fetched