Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.23422254_23422286del	CA2580088204	MYH7	c.3145_3177del (p.Glu1049_Leu1059del) n.3251_3283del	ClinVar
14	g.23422257del	CA2697553842	MYH7	c.3170del (p.Gly1057AlafsTer3) n.3276del	ClinVar
14	g.23422256C>A	CA389045320	MYH7	c.3169G>T (p.Gly1057Cys) n.3275G>T
14	g.23422256C=	CA2123450671	MYH7	c.3169G= (p.Gly1057=) n.3275G=
14	g.23422256C>G	CA389045323	MYH7	c.3169G>C (p.Gly1057Arg) n.3275G>C
14	g.23422256C>T	CA013436	MYH7	c.3169G>A (p.Gly1057Ser) n.3275G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.23422256_23422257insTGGGTCAG	CA2624234399	MYH7	c.3168_3169insCTGACCCA (p.Gly1057LeufsTer6) n.3274_3275insCTGACCCA	gnomAD v4
14	g.23422257C>A	CA389045324	MYH7	c.3168G>T (p.Glu1056Asp) n.3274G>T
14	g.23422257C=	CA2123450679	MYH7	c.3168G= (p.Glu1056=) n.3274G=
14	g.23422257C>G	CA036012	MYH7	c.3168G>C (p.Glu1056Asp) n.3274G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.23422257C>T	CA485621837	MYH7	c.3168G>A (p.Glu1056=) n.3274G>A	ClinVar dbSNP gnomAD v4
14	g.23422258T>A	CA389045326	MYH7	c.3167A>T (p.Glu1056Val) n.3273A>T
14	g.23422258T>C	CA389045327	MYH7	c.3167A>G (p.Glu1056Gly) n.3273A>G
14	g.23422258T>G	CA389045328	MYH7	c.3167A>C (p.Glu1056Ala) n.3273A>C
14	g.23422259C>A	CA389045329	MYH7	c.3166G>T (p.Glu1056Ter) n.3272G>T
14	g.23422259C>G	CA389045330	MYH7	c.3166G>C (p.Glu1056Gln) n.3272G>C
14	g.23422259C>T	CA389045331	MYH7	c.3166G>A (p.Glu1056Lys) n.3272G>A	COSMIC
14	g.23422259_23422260insTTCAGGGT	CA2624234407	MYH7	c.3165_3166insACCCTGAA (p.Glu1056ThrfsTer7) n.3271_3272insACCCTGAA	gnomAD v4
14	g.23422260C>A	CA485621839	MYH7	c.3165G>T (p.Leu1055=) n.3271G>T
14	g.23422260C=	CA2123450687	MYH7	c.3165G= (p.Leu1055=) n.3271G=
14	g.23422260C>G	CA485621840	MYH7	c.3165G>C (p.Leu1055=) n.3271G>C
14	g.23422260C>T	CA485621841	MYH7	c.3165G>A (p.Leu1055=) n.3271G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
14	g.23422261A>C	CA389045332	MYH7	c.3164T>G (p.Leu1055Arg) n.3270T>G
14	g.23422261A>G	CA389045334	MYH7	c.3164T>C (p.Leu1055Pro) n.3270T>C
14	g.23422261A>T	CA389045335	MYH7	c.3164T>A (p.Leu1055Gln) n.3270T>A
14	g.23422262G>A	CA485621843	MYH7	c.3163C>T (p.Leu1055=) n.3269C>T
14	g.23422262G>C	CA389045337	MYH7	c.3163C>G (p.Leu1055Val) n.3269C>G
14	g.23422262G=	CA2123450694	MYH7	c.3163C= (p.Leu1055=) n.3269C=
14	g.23422262G>T	CA013428	MYH7	c.3163C>A (p.Leu1055Met) n.3269C>A	ClinVar dbSNP gnomAD v4
14	g.23422263C>A	CA389045340	MYH7	c.3162G>T (p.Lys1054Asn) n.3268G>T
14	g.23422263C=	CA2123450703	MYH7	c.3162G= (p.Lys1054=) n.3268G=
14	g.23422263C>G	CA389045338	MYH7	c.3162G>C (p.Lys1054Asn) n.3268G>C	dbSNP gnomAD v2 gnomAD v4
14	g.23422263C>T	CA485621846	MYH7	c.3162G>A (p.Lys1054=) n.3268G>A	ClinVar dbSNP gnomAD v4
14	g.23422264T>A	CA389045342	MYH7	c.3161A>T (p.Lys1054Met) n.3267A>T
14	g.23422264T>C	CA389045344	MYH7	c.3161A>G (p.Lys1054Arg) n.3267A>G
14	g.23422264T>G	CA389045345	MYH7	c.3161A>C (p.Lys1054Thr) n.3267A>C
14	g.23422265T>A	CA389045346	MYH7	c.3160A>T (p.Lys1054Ter) n.3266A>T
14	g.23422265T>C	CA013421	MYH7	c.3160A>G (p.Lys1054Glu) n.3266A>G	ClinVar dbSNP gnomAD v4
14	g.23422265T>G	CA389045347	MYH7	c.3160A>C (p.Lys1054Gln) n.3266A>C
14	g.23422265T=	CA2123450710	MYH7	c.3160A= (p.Lys1054=) n.3266A=
14	g.23422266C>A	CA485621854	MYH7	c.3159G>T (p.Arg1053=) n.3265G>T
14	g.23422266C=	CA2123450717	MYH7	c.3159G= (p.Arg1053=) n.3265G=
14	g.23422266C>G	CA485621855	MYH7	c.3159G>C (p.Arg1053=) n.3265G>C
14	g.23422266C>T	CA035997	MYH7	c.3159G>A (p.Arg1053=) n.3265G>A	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.23422267C>A	CA389045348	MYH7	c.3158G>T (p.Arg1053Leu) n.3264G>T
14	g.23422267C=	CA2123450725	MYH7	c.3158G= (p.Arg1053=) n.3264G=
14	g.23422267C>G	CA389045349	MYH7	c.3158G>C (p.Arg1053Pro) n.3264G>C
14	g.23422267C>T	CA013417	MYH7	c.3158G>A (p.Arg1053Gln) n.3264G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14	g.23422268G>A	CA013411	MYH7	c.3157C>T (p.Arg1053Trp) n.3263C>T	ClinVar dbSNP gnomAD v4
14	g.23422268G>C	CA389045350	MYH7	c.3157C>G (p.Arg1053Gly) n.3263C>G

Number of alleles fetched