Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.1610446_1613897del	CA891843163	FOXC1	c.1_1790del (n.[c.1_1790del;Met1=]) c.1_3452del (n.[c.1_3452del;Met1=])	ClinVar
6	g.1610544_1610553del	CA1147243049	FOXC1	c.99_108del (p.Gly34ThrfsTer8)	ClinVar dbSNP
6	g.1610544_1610554delinsCGGGGGCGGCT	CA1605822362	FOXC1	c.99_109delinsCGGGGGCGGCT (p.Ala33=)
6	g.1610545_1610554del	CA16044259	FOXC1	c.100_109del (p.Gly34ThrfsTer8)	ClinVar dbSNP
6	g.1610553C>A	CA448393359	FOXC1	c.108C>A (p.Gly36=)	gnomAD v4
6	g.1610553C>G	CA448393360	FOXC1	c.108C>G (p.Gly36=)	ClinVar dbSNP
6	g.1610553C>T	CA448393361	FOXC1	c.108C>T (p.Gly36=)
6	g.1610554_1610556dup	CA2677060448	FOXC1	c.109_111dup (p.Tyr37_Thr38insTyr)	gnomAD v4
6	g.1610554T>A	CA362558092	FOXC1	c.109T>A (p.Tyr37Asn)
6	g.1610554T>C	CA362558093	FOXC1	c.109T>C (p.Tyr37His)	dbSNP gnomAD v4
6	g.1610554T>G	CA362558094	FOXC1	c.109T>G (p.Tyr37Asp)
6	g.1610554T=	CA1605822369	FOXC1	c.109T= (p.Tyr37=)
6	g.1610555A=	CA1605822370	FOXC1	c.110A= (p.Tyr37=)
6	g.1610555A>C	CA362558097	FOXC1	c.110A>C (p.Tyr37Ser)
6	g.1610555A>G	CA362558095	FOXC1	c.110A>G (p.Tyr37Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.1610555A>T	CA362558096	FOXC1	c.110A>T (p.Tyr37Phe)
6	g.1610556C>A	CA362558098	FOXC1	c.111C>A (p.Tyr37Ter)
6	g.1610556C=	CA1605822371	FOXC1	c.111C= (p.Tyr37=)
6	g.1610556C>G	CA362558099	FOXC1	c.111C>G (p.Tyr37Ter)
6	g.1610556C>T	CA448393364	FOXC1	c.111C>T (p.Tyr37=)	dbSNP gnomAD v4
6	g.1610557A=	CA1605822373	FOXC1	c.112A= (p.Thr38=)
6	g.1610557A>C	CA362558100	FOXC1	c.112A>C (p.Thr38Pro)
6	g.1610557A>G	CA362558101	FOXC1	c.112A>G (p.Thr38Ala)	dbSNP gnomAD v3 gnomAD v4
6	g.1610557A>T	CA362558102	FOXC1	c.112A>T (p.Thr38Ser)	gnomAD v4
6	g.1610557_1610565delinsACCGCCATG	CA1605822372	FOXC1	c.112_120delinsACCGCCATG (p.Thr38=)
6	g.1610558C>A	CA362558104	FOXC1	c.113C>A (p.Thr38Asn)
6	g.1610558C>G	CA362558105	FOXC1	c.113C>G (p.Thr38Ser)
6	g.1610558C>T	CA362558103	FOXC1	c.113C>T (p.Thr38Ile)	gnomAD v4
6	g.1610561_1610568del	CA16044260	FOXC1	c.116_123del (p.Ala39GlyfsTer?)	ClinVar dbSNP
6	g.1610559C>A	CA448393367	FOXC1	c.114C>A (p.Thr38=)
6	g.1610559C=	CA1605822374	FOXC1	c.114C= (p.Thr38=)
6	g.1610559C>G	CA448393369	FOXC1	c.114C>G (p.Thr38=)
6	g.1610559C>T	CA3614697	FOXC1	c.114C>T (p.Thr38=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.1610560G>A	CA362558107	FOXC1	c.115G>A (p.Ala39Thr)	gnomAD v4
6	g.1610560G>C	CA362558106	FOXC1	c.115G>C (p.Ala39Pro)
6	g.1610560G=	CA1605822375	FOXC1	c.115G= (p.Ala39=)
6	g.1610560G>T	CA3614698	FOXC1	c.115G>T (p.Ala39Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.1610561C>A	CA362558108	FOXC1	c.116C>A (p.Ala39Asp)
6	g.1610561C>G	CA362558109	FOXC1	c.116C>G (p.Ala39Gly)
6	g.1610561C>T	CA362558110	FOXC1	c.116C>T (p.Ala39Val)	gnomAD v4
6	g.1610562C>A	CA448393372	FOXC1	c.117C>A (p.Ala39=)
6	g.1610562C=	CA1605822376	FOXC1	c.117C= (p.Ala39=)
6	g.1610562C>G	CA448393373	FOXC1	c.117C>G (p.Ala39=)
6	g.1610562C>T	CA448393374	FOXC1	c.117C>T (p.Ala39=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.1610563A=	CA1605822377	FOXC1	c.118A= (p.Met40=)
6	g.1610563A>C	CA362558111	FOXC1	c.118A>C (p.Met40Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.1610563A>G	CA362558112	FOXC1	c.118A>G (p.Met40Val)	gnomAD v4
6	g.1610563A>T	CA362558113	FOXC1	c.118A>T (p.Met40Leu)
6	g.1610564T>A	CA362558114	FOXC1	c.119T>A (p.Met40Lys)
6	g.1610564T>C	CA362558115	FOXC1	c.119T>C (p.Met40Thr)

Number of alleles fetched