Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.47351340_47351351delinsTGCCGTGTGCCC	CA1969342664	MYBPC3	c.180_191delinsGGGCACACGGCA (p.Glu60=)
11	g.47351341_47351351del	CA676993901	MYBPC3	c.180_190del (p.Gly61TyrfsTer?)	dbSNP
11	g.47351343_47351354delinsCGTGTGCCCTCT	CA1969342665	MYBPC3	c.177_188delinsAGAGGGCACACG (p.Thr59=)
11	g.47351347_47351357del	CA011058	MYBPC3	c.177_187del (p.Glu60AlafsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.47351347T>A	CA380341758	MYBPC3	c.184A>T (p.Thr62Ser)
11	g.47351347T>C	CA380341757	MYBPC3	c.184A>G (p.Thr62Ala)
11	g.47351347T>G	CA011327	MYBPC3	c.184A>C (p.Thr62Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47351347T=	CA1969342669	MYBPC3	c.184A= (p.Thr62=)
11	g.47351348G>A	CA474429695	MYBPC3	c.183C>T (p.Gly61=)	dbSNP gnomAD v2 gnomAD v4
11	g.47351348G>C	CA474429696	MYBPC3	c.183C>G (p.Gly61=)	dbSNP gnomAD v3 gnomAD v4
11	g.47351348G=	CA1969342671	MYBPC3	c.183C= (p.Gly61=)
11	g.47351348G>T	CA474429698	MYBPC3	c.183C>A (p.Gly61=)	gnomAD v4
11	g.47351348_47351349delinsGC	CA1969342670	MYBPC3	c.182_183delinsGC (p.Gly61=)
11	g.47351349C>A	CA380341759	MYBPC3	c.182G>T (p.Gly61Val)	gnomAD v4
11	g.47351349C=	CA1969342672	MYBPC3	c.182G= (p.Gly61=)
11	g.47351349C>G	CA380341760	MYBPC3	c.182G>C (p.Gly61Ala)	gnomAD v4
11	g.47351349C>T	CA221708760	MYBPC3	c.182G>A (p.Gly61Asp)	dbSNP gnomAD v4
11	g.47351351del	CA011301	MYBPC3	c.182del (p.Gly61AlafsTer6)	ClinVar dbSNP
11	g.47351350C>A	CA380341761	MYBPC3	c.181G>T (p.Gly61Cys)
11	g.47351350C=	CA1969342674	MYBPC3	c.181G= (p.Gly61=)
11	g.47351350C>G	CA380341762	MYBPC3	c.181G>C (p.Gly61Arg)	dbSNP
11	g.47351350C>T	CA380341763	MYBPC3	c.181G>A (p.Gly61Ser)
11	g.47351350_47351352delinsCCT	CA1969342673	MYBPC3	c.179_181delinsAGG (p.Glu60=)
11	g.47351351C>A	CA380341764	MYBPC3	c.180G>T (p.Glu60Asp)	gnomAD v4
11	g.47351351C=	CA1969342675	MYBPC3	c.180G= (p.Glu60=)
11	g.47351351C>G	CA380341765	MYBPC3	c.180G>C (p.Glu60Asp)	dbSNP gnomAD v2 gnomAD v4
11	g.47351351C>T	CA474429702	MYBPC3	c.180G>A (p.Glu60=)	ClinVar gnomAD v4
11	g.47351353_47351354del	CA011160	MYBPC3	c.179_180del (p.Glu60GlyfsTer?)	dbSNP
11	g.47351352T>A	CA380341766	MYBPC3	c.179A>T (p.Glu60Val)
11	g.47351352T>C	CA380341767	MYBPC3	c.179A>G (p.Glu60Gly)	gnomAD v4
11	g.47351352T>G	CA380341768	MYBPC3	c.179A>C (p.Glu60Ala)
11	g.47351353C>A	CA380341769	MYBPC3	c.178G>T (p.Glu60Ter)	ClinVar dbSNP gnomAD v4
11	g.47351353C=	CA1969342676	MYBPC3	c.178G= (p.Glu60=)
11	g.47351353C>G	CA380341771	MYBPC3	c.178G>C (p.Glu60Gln)
11	g.47351353C>T	CA380341770	MYBPC3	c.178G>A (p.Glu60Lys)	dbSNP gnomAD v2 COSMIC COSMIC
11	g.47351354T>A	CA474429708	MYBPC3	c.177A>T (p.Thr59=)
11	g.47351354T>C	CA474429709	MYBPC3	c.177A>G (p.Thr59=)	gnomAD v4
11	g.47351354T>G	CA474429710	MYBPC3	c.177A>C (p.Thr59=)
11	g.47351354dup	CA2695214007	MYBPC3	c.177dup (p.Glu60ArgfsTer?)
11	g.47351355G>A	CA380341772	MYBPC3	c.176C>T (p.Thr59Ile)
11	g.47351355G>C	CA380341774	MYBPC3	c.176C>G (p.Thr59Arg)
11	g.47351355G>T	CA380341773	MYBPC3	c.176C>A (p.Thr59Lys)
11	g.47351356T>A	CA380341775	MYBPC3	c.175A>T (p.Thr59Ser)
11	g.47351356T>C	CA011043	MYBPC3	c.175A>G (p.Thr59Ala)	ClinVar dbSNP
11	g.47351356T>G	CA380341776	MYBPC3	c.175A>C (p.Thr59Pro)
11	g.47351356T=	CA1969342677	MYBPC3	c.175A= (p.Thr59=)
11	g.47351357G>A	CA474429712	MYBPC3	c.174C>T (p.Ala58=)
11	g.47351357G>C	CA474429713	MYBPC3	c.174C>G (p.Ala58=)
11	g.47351357G>T	CA474429714	MYBPC3	c.174C>A (p.Ala58=)
11	g.47351361_47351365del	CA2695214008	MYBPC3	c.170_174del (p.Leu57HisfsTer?)

Number of alleles fetched