Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.50198433_50199305delinsA	CA2573131850	COL1A1	c.392_543delinsT
17	g.50198923C=	CA2263920473	COL1A1	c.471+303G= (n.471+303G=)
17	g.50198923C>T	CA984451709	COL1A1	c.471+303G>A (n.471+303G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.50198927G>A	CA2809770986	COL1A1	c.471+299C>T (n.471+299C>T)
17	g.50198930T>C	CA984451711	COL1A1	c.471+296A>G (n.471+296A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.50198930T=	CA2263920474	COL1A1	c.471+296A= (n.471+296A=)
17	g.50198932G>A	CA984451714	COL1A1	c.471+294C>T (n.471+294C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.50198932G=	CA2263920475	COL1A1	c.471+294C= (n.471+294C=)
17	g.50198933G>A	CA984451716	COL1A1	c.471+293C>T (n.471+293C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.50198933G=	CA2263920476	COL1A1	c.471+293C= (n.471+293C=)
17	g.50198936A=	CA2263920477	COL1A1	c.471+290T= (n.471+290T=)
17	g.50198936A>C	CA291550148	COL1A1	c.471+290T>G (n.471+290T>G)	dbSNP gnomAD v3 gnomAD v4
17	g.50198946A=	CA2263920478	COL1A1	c.471+280T= (n.471+280T=)
17	g.50198946A>C	CA626486238	COL1A1	c.471+280T>G (n.471+280T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50198949C=	CA2263920479	COL1A1	c.471+277G= (n.471+277G=)
17	g.50198949C>T	CA291550152	COL1A1	c.471+277G>A (n.471+277G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.50198951_50198953delinsCTT	CA2263920480	COL1A1	c.471+273_471+275delinsAAG (n.471+273_471+275delinsAAG)
17	g.50198952T>C	CA984451720	COL1A1	c.471+274A>G (n.471+274A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.50198952T=	CA2263920481	COL1A1	c.471+274A= (n.471+274A=)
17	g.50198952_50198953del	CA919856729	COL1A1	c.471+273_471+274del (n.471+273_471+274del)	dbSNP
17	g.50198953T>C	CA2263920483	COL1A1	c.471+273A>G (n.471+273A>G)	dbSNP
17	g.50198953T=	CA2263920482	COL1A1	c.471+273A= (n.471+273A=)
17	g.50198965A>C	CA2733839745	COL1A1	c.471+261T>G (n.471+261T>G)	dbSNP
17	g.50198968C=	CA2263920484	COL1A1	c.471+258G= (n.471+258G=)
17	g.50198968C>T	CA2263920485	COL1A1	c.471+258G>A (n.471+258G>A)	dbSNP
17	g.50198971A=	CA2263920486	COL1A1	c.471+255T= (n.471+255T=)
17	g.50198971A>C	CA2263920487	COL1A1	c.471+255T>G (n.471+255T>G)	dbSNP
17	g.50198972C=	CA2263920488	COL1A1	c.471+254G= (n.471+254G=)
17	g.50198972C>T	CA2263920489	COL1A1	c.471+254G>A (n.471+254G>A)	dbSNP
17	g.50198973C=	CA2263920490	COL1A1	c.471+253G= (n.471+253G=)
17	g.50198973C>T	CA291550157	COL1A1	c.471+253G>A (n.471+253G>A)	dbSNP
17	g.50198974_50198990delinsTAAGTATTTAGGCGCAA	CA2263920491	COL1A1	c.471+236_471+252delinsTTGCGCCTAAATACTTA (n.471+236_471+252delinsTTGCGCCTAAATACTTA)
17	g.50198978_50198993del	CA772776240	COL1A1	c.471+236_471+251del (n.471+236_471+251del)	dbSNP
17	g.50198977G>A	CA772776243	COL1A1	c.471+249C>T (n.471+249C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.50198977G=	CA2263920493	COL1A1	c.471+249C= (n.471+249C=)
17	g.50198977_50198981delinsGTATT	CA2263920492	COL1A1	c.471+245_471+249delinsAATAC (n.471+245_471+249delinsAATAC)
17	g.50198980_50198983del	CA772776247	COL1A1	c.471+245_471+248del (n.471+245_471+248del)	dbSNP gnomAD v3 gnomAD v4
17	g.50198982T>C	CA291550160	COL1A1	c.471+244A>G (n.471+244A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50198982T=	CA2263920494	COL1A1	c.471+244A= (n.471+244A=)
17	g.50198986C=	CA2263920495	COL1A1	c.471+240G= (n.471+240G=)
17	g.50198986C>T	CA2263920496	COL1A1	c.471+240G>A (n.471+240G>A)	dbSNP
17	g.50198987G>A	CA291550175	COL1A1	c.471+239C>T (n.471+239C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50198987G=	CA2263920497	COL1A1	c.471+239C= (n.471+239C=)
17	g.50198987G>T	CA291550170	COL1A1	c.471+239C>A (n.471+239C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50198989A=	CA2263920498	COL1A1	c.471+237T= (n.471+237T=)
17	g.50198989A>G	CA291550178	COL1A1	c.471+237T>C (n.471+237T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50198989A>T	CA984451724	COL1A1	c.471+237T>A (n.471+237T>A)	dbSNP gnomAD v3 gnomAD v4
17	g.50198990A=	CA2263920499	COL1A1	c.471+236T= (n.471+236T=)
17	g.50198990A>G	CA2263920500	COL1A1	c.471+236T>C (n.471+236T>C)	dbSNP
17	g.50198996C=	CA2263920501	COL1A1	c.471+230G= (n.471+230G=)
17	g.50198996C>T	CA626486242	COL1A1	c.471+230G>A (n.471+230G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50198998T>C	CA291550181	COL1A1	c.471+228A>G (n.471+228A>G)	dbSNP
17	g.50198998T>G	CA626486243	COL1A1	c.471+228A>C (n.471+228A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50198998T=	CA2263920502	COL1A1	c.471+228A= (n.471+228A=)
17	g.50199003T>C	CA291550183	COL1A1	c.471+223A>G (n.471+223A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199003T=	CA2263920503	COL1A1	c.471+223A= (n.471+223A=)
17	g.50199005A=	CA2263920504	COL1A1	c.471+221T= (n.471+221T=)
17	g.50199005A>G	CA291550185	COL1A1	c.471+221T>C (n.471+221T>C)	dbSNP
17	g.50199008A=	CA2263920505	COL1A1	c.471+218T= (n.471+218T=)
17	g.50199008A>G	CA772776259	COL1A1	c.471+218T>C (n.471+218T>C)	dbSNP
17	g.50199013G>A	CA772776260	COL1A1	c.471+213C>T (n.471+213C>T)	dbSNP
17	g.50199013G=	CA2263920506	COL1A1	c.471+213C= (n.471+213C=)
17	g.50199015T>C	CA2263920508	COL1A1	c.471+211A>G (n.471+211A>G)	dbSNP
17	g.50199015T=	CA2263920507	COL1A1	c.471+211A= (n.471+211A=)
17	g.50199019A=	CA2263920509	COL1A1	c.471+207T= (n.471+207T=)
17	g.50199019A>G	CA772776262	COL1A1	c.471+207T>C (n.471+207T>C)	dbSNP gnomAD v3 gnomAD v4
17	g.50199020C>A	CA626486244	COL1A1	c.471+206G>T (n.471+206G>T)	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199021A=	CA2263920510	COL1A1	c.471+205T= (n.471+205T=)
17	g.50199021A>C	CA772776272	COL1A1	c.471+205T>G (n.471+205T>G)	dbSNP gnomAD v3 gnomAD v4
17	g.50199021A>G	CA291550189	COL1A1	c.471+205T>C (n.471+205T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199022G>A	CA626486248	COL1A1	c.471+204C>T (n.471+204C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50199022G=	CA2263920511	COL1A1	c.471+204C= (n.471+204C=)
17	g.50199022_50199025del	CA626486245	COL1A1	c.471+201_471+204del (n.471+201_471+204del)	gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched