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.1610685_1610729del	CA2695205854	FOXC1	c.240_284del (p.Tyr81_Pro95del)
6	g.1610692T>A	CA362558393	FOXC1	c.247T>A (p.Tyr83Asn)
6	g.1610692T>C	CA362558394	FOXC1	c.247T>C (p.Tyr83His)
6	g.1610692T>G	CA362558395	FOXC1	c.247T>G (p.Tyr83Asp)
6	g.1610693A>C	CA362558398	FOXC1	c.248A>C (p.Tyr83Ser)
6	g.1610693A>G	CA362558397	FOXC1	c.248A>G (p.Tyr83Cys)
6	g.1610693A>T	CA362558396	FOXC1	c.248A>T (p.Tyr83Phe)
6	g.1610694C>A	CA362558399	FOXC1	c.249C>A (p.Tyr83Ter)	ClinVar
6	g.1610694C=	CA1605822452	FOXC1	c.249C= (p.Tyr83=)
6	g.1610694C>G	CA362558400	FOXC1	c.249C>G (p.Tyr83Ter)
6	g.1610694C>T	CA133389553	FOXC1	c.249C>T (p.Tyr83=)	dbSNP gnomAD v2 gnomAD v4
6	g.1610695A>C	CA362558401	FOXC1	c.250A>C (p.Ile84Leu)
6	g.1610695A>G	CA362558402	FOXC1	c.250A>G (p.Ile84Val)	gnomAD v4
6	g.1610695A>T	CA362558403	FOXC1	c.250A>T (p.Ile84Phe)
6	g.1610696T>A	CA362558404	FOXC1	c.251T>A (p.Ile84Asn)
6	g.1610696T>C	CA362558406	FOXC1	c.251T>C (p.Ile84Thr)
6	g.1610696T>G	CA362558405	FOXC1	c.251T>G (p.Ile84Ser)
6	g.1610697C>A	CA448393616	FOXC1	c.252C>A (p.Ile84=)
6	g.1610697C=	CA1605822453	FOXC1	c.252C= (p.Ile84=)
6	g.1610697C>G	CA362558407	FOXC1	c.252C>G (p.Ile84Met)
6	g.1610697C>T	CA3614727	FOXC1	c.252C>T (p.Ile84=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.1610698G>A	CA362558408	FOXC1	c.253G>A (p.Ala85Thr)	COSMIC
6	g.1610698G>C	CA362558409	FOXC1	c.253G>C (p.Ala85Pro)
6	g.1610698G=	CA1605822454	FOXC1	c.253G= (p.Ala85=)
6	g.1610698G>T	CA362558410	FOXC1	c.253G>T (p.Ala85Ser)	dbSNP gnomAD v2 gnomAD v4
6	g.1610699C>A	CA362558411	FOXC1	c.254C>A (p.Ala85Glu)
6	g.1610699C=	CA1605822455	FOXC1	c.254C= (p.Ala85=)
6	g.1610699C>G	CA362558412	FOXC1	c.254C>G (p.Ala85Gly)
6	g.1610699C>T	CA362558413	FOXC1	c.254C>T (p.Ala85Val)	ClinVar dbSNP
6	g.1610699dup	CA2695205856	FOXC1	c.254dup (p.Leu86AlafsTer?)
6	g.1610700G>A	CA448393240	FOXC1	c.255G>A (p.Ala85=)
6	g.1610700G>C	CA448393242	FOXC1	c.255G>C (p.Ala85=)
6	g.1610700G>T	CA448393244	FOXC1	c.255G>T (p.Ala85=)
6	g.1610700_1610701delinsTT	CA2695205857	FOXC1	c.255_256delinsTT (p.Leu86Phe)
6	g.1610701_1610712del	CA2573140134	FOXC1	c.256_267del (p.Leu86_Met89del)	ClinVar dbSNP
6	g.1610701C>A	CA362558414	FOXC1	c.256C>A (p.Leu86Ile)
6	g.1610701C=	CA1605822456	FOXC1	c.256C= (p.Leu86=)
6	g.1610701C>G	CA362558415	FOXC1	c.256C>G (p.Leu86Val)
6	g.1610701C>T	CA10588416	FOXC1	c.256C>T (p.Leu86Phe)	ClinVar dbSNP
6	g.1610702T>A	CA362558417	FOXC1	c.257T>A (p.Leu86His)
6	g.1610702T>C	CA362558418	FOXC1	c.257T>C (p.Leu86Pro)
6	g.1610702T>G	CA362558416	FOXC1	c.257T>G (p.Leu86Arg)	ClinVar
6	g.1610702_1610703insTA	CA645541563	FOXC1	c.257_258insTA (p.Ile87ThrfsTer16)	COSMIC
6	g.1610703C>A	CA448393251	FOXC1	c.258C>A (p.Leu86=)	COSMIC
6	g.1610703C=	CA1605822457	FOXC1	c.258C= (p.Leu86=)
6	g.1610703C>G	CA448393252	FOXC1	c.258C>G (p.Leu86=)
6	g.1610703C>T	CA448393253	FOXC1	c.258C>T (p.Leu86=)	dbSNP gnomAD v4
6	g.1610704A>C	CA362558419	FOXC1	c.259A>C (p.Ile87Leu)
6	g.1610704A>G	CA362558421	FOXC1	c.259A>G (p.Ile87Val)	gnomAD v4

Number of alleles fetched