Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.23433506_23433539delinsAGTC	CA2580088037	MYH7	c.194_201+26delinsGACT n.300_307+26delinsGACT	ClinVar
14	g.23433532del	CA2123455684	MYH7	c.201+1del n.307+1del	dbSNP gnomAD v4
14	g.23433532C>A	CA389053574	MYH7	c.201G>T (p.Lys67Asn) n.307G>T	COSMIC
14	g.23433532C>G	CA389053576	MYH7	c.201G>C (p.Lys67Asn) n.307G>C
14	g.23433532C>T	CA485627094	MYH7	c.201G>A (p.Lys67=) n.307G>A
14	g.23433533T>A	CA389053577	MYH7	c.200A>T (p.Lys67Met) n.306A>T
14	g.23433533T>C	CA389053578	MYH7	c.200A>G (p.Lys67Arg) n.306A>G	gnomAD v4
14	g.23433533T>G	CA389053579	MYH7	c.200A>C (p.Lys67Thr) n.306A>C	ClinVar dbSNP gnomAD v4
14	g.23433534T>A	CA389053581	MYH7	c.199A>T (p.Lys67Ter) n.305A>T
14	g.23433534T>C	CA389053584	MYH7	c.199A>G (p.Lys67Glu) n.305A>G
14	g.23433534T>G	CA389053583	MYH7	c.199A>C (p.Lys67Gln) n.305A>C
14	g.23433535G>A	CA485627095	MYH7	c.198C>T (p.Gly66=) n.304C>T	gnomAD v4
14	g.23433535G>C	CA485627096	MYH7	c.198C>G (p.Gly66=) n.304C>G	ClinVar dbSNP gnomAD v4
14	g.23433535G=	CA2123455690	MYH7	c.198C= (p.Gly66=) n.304C=
14	g.23433535G>T	CA485627097	MYH7	c.198C>A (p.Gly66=) n.304C>A	dbSNP
14	g.23433536C>A	CA389053587	MYH7	c.197G>T (p.Gly66Val) n.303G>T
14	g.23433536C=	CA2123455696	MYH7	c.197G= (p.Gly66=) n.303G=
14	g.23433536C>G	CA389053590	MYH7	c.197G>C (p.Gly66Ala) n.303G>C
14	g.23433536C>T	CA389053588	MYH7	c.197G>A (p.Gly66Asp) n.303G>A	ClinVar dbSNP gnomAD v4
14	g.23433537C>A	CA389053591	MYH7	c.196G>T (p.Gly66Cys) n.302G>T	gnomAD v4
14	g.23433537C>G	CA389053595	MYH7	c.196G>C (p.Gly66Arg) n.302G>C
14	g.23433537C>T	CA389053593	MYH7	c.196G>A (p.Gly66Ser) n.302G>A	ClinVar
14	g.23433538A=	CA2123455709	MYH7	c.195T= (p.Tyr65=) n.301T=
14	g.23433538A>C	CA389053596	MYH7	c.195T>G (p.Tyr65Ter) n.301T>G	ClinVar dbSNP
14	g.23433538A>G	CA257826864	MYH7	c.195T>C (p.Tyr65=) n.301T>C	ClinVar dbSNP gnomAD v2 gnomAD v4
14	g.23433538A>T	CA389053598	MYH7	c.195T>A (p.Tyr65Ter) n.301T>A
14	g.23433539T>A	CA389053600	MYH7	c.194A>T (p.Tyr65Phe) n.300A>T
14	g.23433539T>C	CA389053601	MYH7	c.194A>G (p.Tyr65Cys) n.300A>G	ClinVar gnomAD v4
14	g.23433539T>G	CA389053602	MYH7	c.194A>C (p.Tyr65Ser) n.300A>C
14	g.23433540A>C	CA389053604	MYH7	c.193T>G (p.Tyr65Asp) n.299T>G
14	g.23433540A>G	CA389053606	MYH7	c.193T>C (p.Tyr65His) n.299T>C	ClinVar dbSNP gnomAD v4
14	g.23433540A>T	CA389053607	MYH7	c.193T>A (p.Tyr65Asn) n.299T>A
14	g.23433541C>A	CA389053609	MYH7	c.192G>T (p.Glu64Asp) n.298G>T
14	g.23433541C>G	CA389053610	MYH7	c.192G>C (p.Glu64Asp) n.298G>C
14	g.23433541C>T	CA485627098	MYH7	c.192G>A (p.Glu64=) n.298G>A	ClinVar gnomAD v4
14	g.23433542T>A	CA389053612	MYH7	c.191A>T (p.Glu64Val) n.297A>T	gnomAD v4
14	g.23433542T>C	CA389053614	MYH7	c.191A>G (p.Glu64Gly) n.297A>G
14	g.23433542T>G	CA389053615	MYH7	c.191A>C (p.Glu64Ala) n.297A>C
14	g.23433543C>A	CA389053620	MYH7	c.190G>T (p.Glu64Ter) n.296G>T	gnomAD v4
14	g.23433543C=	CA2123455715	MYH7	c.190G= (p.Glu64=) n.296G=
14	g.23433543C>G	CA389053617	MYH7	c.190G>C (p.Glu64Gln) n.296G>C
14	g.23433543C>T	CA389053618	MYH7	c.190G>A (p.Glu64Lys) n.296G>A	ClinVar dbSNP gnomAD v4
14	g.23433543_23433544del	CA2624254157	MYH7	c.189_190del (p.Glu64ValfsTer?) n.295_296del	gnomAD v4
14	g.23433544G>A	CA011440	MYH7	c.189C>T (p.Thr63=) n.295C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.23433544G>C	CA485627099	MYH7	c.189C>G (p.Thr63=) n.295C>G
14	g.23433544G=	CA180572	MYH7	c.189C= (p.Thr63=) n.295C=
14	g.23433544G>T	CA485627100	MYH7	c.189C>A (p.Thr63=) n.295C>A
14	g.23433544_23433546del	CA2624254159	MYH7	c.187_189del (p.Thr63del) n.293_295del	gnomAD v4
14	g.23433545G>A	CA389053622	MYH7	c.188C>T (p.Thr63Ile) n.294C>T
14	g.23433545G>C	CA389053623	MYH7	c.188C>G (p.Thr63Ser) n.294C>G

Number of alleles fetched