Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.47351299_47351306delinsATCCCTGG	CA1969342635	MYBPC3	c.225_232delinsCCAGGGAT (p.Asp75=)
11	g.47351302_47351308del	CA676993760	MYBPC3	c.225_231del (p.Gln76LeufsTer18)	dbSNP
11	g.47351303del	CA2580084274	MYBPC3	c.230del (p.Gly77AspfsTer19)	ClinVar
11	g.47351302C>A	CA351921	MYBPC3	c.229G>T (p.Gly77Ter)	ClinVar dbSNP gnomAD v4
11	g.47351302C=	CA1969342638	MYBPC3	c.229G= (p.Gly77=)
11	g.47351302C>G	CA380341670	MYBPC3	c.229G>C (p.Gly77Arg)
11	g.47351302C>T	CA380341671	MYBPC3	c.229G>A (p.Gly77Arg)
11	g.47351303C>A	CA380341672	MYBPC3	c.228G>T (p.Gln76His)	gnomAD v4
11	g.47351303C=	CA1969342639	MYBPC3	c.228G= (p.Gln76=)
11	g.47351303C>G	CA380341673	MYBPC3	c.228G>C (p.Gln76His)
11	g.47351303C>T	CA049031	MYBPC3	c.228G>A (p.Gln76=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.47351304_47351308dup	CA2695214004	MYBPC3	c.224_228dup (p.Gly77ThrfsTer21)
11	g.47351309_47351310insCAGATCTGGTCG	CA2613402097	MYBPC3	c.228_229insATCTGCGACCAG (p.Gln76_Gly77insIleCysAspGln)	gnomAD v4
11	g.47351304T>A	CA380341676	MYBPC3	c.227A>T (p.Gln76Leu)
11	g.47351304T>C	CA380341674	MYBPC3	c.227A>G (p.Gln76Arg)	ClinVar gnomAD v4
11	g.47351304T>G	CA380341675	MYBPC3	c.227A>C (p.Gln76Pro)
11	g.47351304dup	CA279311	MYBPC3	c.227dup (p.Ser78IlefsTer?)	ClinVar dbSNP
11	g.47351305G>A	CA380341677	MYBPC3	c.226C>T (p.Gln76Ter)	ClinVar dbSNP
11	g.47351305G>C	CA380341678	MYBPC3	c.226C>G (p.Gln76Glu)
11	g.47351305G=	CA1969342640	MYBPC3	c.226C= (p.Gln76=)
11	g.47351305G>T	CA380341679	MYBPC3	c.226C>A (p.Gln76Lys)
11	g.47351306G>A	CA474429630	MYBPC3	c.225C>T (p.Asp75=)	gnomAD v4
11	g.47351306G>C	CA380341680	MYBPC3	c.225C>G (p.Asp75Glu)	ClinVar dbSNP
11	g.47351306G=	CA1969342641	MYBPC3	c.225C= (p.Asp75=)
11	g.47351306G>T	CA380341681	MYBPC3	c.225C>A (p.Asp75Glu)	dbSNP gnomAD v2 gnomAD v4
11	g.47351307T>A	CA380341682	MYBPC3	c.224A>T (p.Asp75Val)	gnomAD v4
11	g.47351307T>C	CA380341683	MYBPC3	c.224A>G (p.Asp75Gly)	gnomAD v4
11	g.47351307T>G	CA380341684	MYBPC3	c.224A>C (p.Asp75Ala)
11	g.47351307T=	CA1969342642	MYBPC3	c.224A= (p.Asp75=)
11	g.47351308C>A	CA380341685	MYBPC3	c.223G>T (p.Asp75Tyr)	dbSNP gnomAD v2 gnomAD v4
11	g.47351308C=	CA1969342643	MYBPC3	c.223G= (p.Asp75=)
11	g.47351308C>G	CA380341686	MYBPC3	c.223G>C (p.Asp75His)
11	g.47351308C>T	CA011926	MYBPC3	c.223G>A (p.Asp75Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47351308dup	CA1139661949	MYBPC3	c.223dup (p.Asp75GlyfsTer?)	ClinVar dbSNP
11	g.47351309G>A	CA221708686	MYBPC3	c.222C>T (p.Ala74=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47351309G>C	CA474429632	MYBPC3	c.222C>G (p.Ala74=)
11	g.47351309G=	CA1969342644	MYBPC3	c.222C= (p.Ala74=)
11	g.47351309G>T	CA474429633	MYBPC3	c.222C>A (p.Ala74=)	gnomAD v4
11	g.47351309_47351310delinsGG	CA1969342645	MYBPC3	c.221_222delinsCC (p.Ala74=)
11	g.47351310G>A	CA380341688	MYBPC3	c.221C>T (p.Ala74Val)	gnomAD v4
11	g.47351310G>C	CA380341689	MYBPC3	c.221C>G (p.Ala74Gly)
11	g.47351310G=	CA1969342646	MYBPC3	c.221C= (p.Ala74=)
11	g.47351310G>T	CA380341687	MYBPC3	c.221C>A (p.Ala74Asp)	dbSNP gnomAD v3 gnomAD v4
11	g.47351310delinsAA	CA658797648	MYBPC3	c.221delinsTT (p.Ala74ValfsTer?)	ClinVar dbSNP
11	g.47351311C>A	CA380341690	MYBPC3	c.220G>T (p.Ala74Ser)	gnomAD v4
11	g.47351311C=	CA1969342647	MYBPC3	c.220G= (p.Ala74=)
11	g.47351311C>G	CA380341691	MYBPC3	c.220G>C (p.Ala74Pro)
11	g.47351311C>T	CA380341692	MYBPC3	c.220G>A (p.Ala74Thr)	ClinVar dbSNP gnomAD v4
11	g.47351312A>C	CA474429634	MYBPC3	c.219T>G (p.Pro73=)
11	g.47351312A>G	CA474429635	MYBPC3	c.219T>C (p.Pro73=)

Number of alleles fetched