Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.44942680C>A	CA426126873	SIX3	c.576C>A (p.Arg192=)	gnomAD v4
2	g.44942680C=	CA2494535355	SIX3	c.576C= (p.Arg192=)
2	g.44942680C>G	CA426126874	SIX3	c.576C>G (p.Arg192=)	dbSNP gnomAD v3 gnomAD v4
2	g.44942680C>T	CA344812	SIX3	c.576C>T (p.Arg192=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.44942681G>A	CA346799893	SIX3	c.577G>A (p.Val193Met)	dbSNP gnomAD v2 gnomAD v4
2	g.44942681G>C	CA346799894	SIX3	c.577G>C (p.Val193Leu)
2	g.44942681G=	CA2494535356	SIX3	c.577G= (p.Val193=)
2	g.44942681G>T	CA346799892	SIX3	c.577G>T (p.Val193Leu)	gnomAD v4
2	g.44942682T>A	CA346799895	SIX3	c.578T>A (p.Val193Glu)	gnomAD v4
2	g.44942682T>C	CA346799896	SIX3	c.578T>C (p.Val193Ala)
2	g.44942682T>G	CA346799897	SIX3	c.578T>G (p.Val193Gly)
2	g.44942683G>A	CA426126877	SIX3	c.579G>A (p.Val193=)	dbSNP gnomAD v2 gnomAD v4
2	g.44942683G>C	CA426126878	SIX3	c.579G>C (p.Val193=)
2	g.44942683G=	CA2494535357	SIX3	c.579G= (p.Val193=)
2	g.44942683G>T	CA426126879	SIX3	c.579G>T (p.Val193=)	gnomAD v4
2	g.44942684C>A	CA346799898	SIX3	c.580C>A (p.Arg194Ser)	gnomAD v4
2	g.44942684C>G	CA346799899	SIX3	c.580C>G (p.Arg194Gly)
2	g.44942684C>T	CA346799900	SIX3	c.580C>T (p.Arg194Cys)	gnomAD v4
2	g.44942685G>A	CA346799901	SIX3	c.581G>A (p.Arg194His)	gnomAD v4
2	g.44942685G>C	CA346799902	SIX3	c.581G>C (p.Arg194Pro)	ClinVar dbSNP
2	g.44942685G=	CA2494535358	SIX3	c.581G= (p.Arg194=)
2	g.44942685G>T	CA346799903	SIX3	c.581G>T (p.Arg194Leu)
2	g.44942686C>A	CA426126884	SIX3	c.582C>A (p.Arg194=)	gnomAD v4
2	g.44942686C>G	CA426126883	SIX3	c.582C>G (p.Arg194=)	gnomAD v4
2	g.44942686C>T	CA426126882	SIX3	c.582C>T (p.Arg194=)	ClinVar
2	g.44942686dup	CA2586969320	SIX3	c.582dup (p.Lys195GlnfsTer?)
2	g.44942687A>C	CA346799904	SIX3	c.583A>C (p.Lys195Gln)
2	g.44942687A>G	CA346799905	SIX3	c.583A>G (p.Lys195Glu)
2	g.44942687A>T	CA346799906	SIX3	c.583A>T (p.Lys195Ter)
2	g.44942688A>C	CA346799909	SIX3	c.584A>C (p.Lys195Thr)
2	g.44942688A>G	CA346799907	SIX3	c.584A>G (p.Lys195Arg)	gnomAD v4
2	g.44942688A>T	CA346799908	SIX3	c.584A>T (p.Lys195Met)
2	g.44942689G>A	CA426126887	SIX3	c.585G>A (p.Lys195=)	gnomAD v4
2	g.44942689G>C	CA346799910	SIX3	c.585G>C (p.Lys195Asn)
2	g.44942689G>T	CA346799911	SIX3	c.585G>T (p.Lys195Asn)	gnomAD v4
2	g.44942690A>C	CA346799912	SIX3	c.586A>C (p.Lys196Gln)
2	g.44942690A>G	CA346799913	SIX3	c.586A>G (p.Lys196Glu)
2	g.44942690A>T	CA346799914	SIX3	c.586A>T (p.Lys196Ter)
2	g.44942691A=	CA2494535359	SIX3	c.587A= (p.Lys196=)
2	g.44942691A>C	CA346799915	SIX3	c.587A>C (p.Lys196Thr)
2	g.44942691A>G	CA346799916	SIX3	c.587A>G (p.Lys196Arg)
2	g.44942691A>T	CA346799917	SIX3	c.587A>T (p.Lys196Met)	dbSNP
2	g.44942692G>A	CA47011058	SIX3	c.588G>A (p.Lys196=)	ClinVar dbSNP
2	g.44942692G>C	CA346799918	SIX3	c.588G>C (p.Lys196Asn)
2	g.44942692G=	CA2494535360	SIX3	c.588G= (p.Lys196=)
2	g.44942692G>T	CA346799919	SIX3	c.588G>T (p.Lys196Asn)
2	g.44942693T>A	CA346799920	SIX3	c.589T>A (p.Phe197Ile)
2	g.44942693T>C	CA346799921	SIX3	c.589T>C (p.Phe197Leu)
2	g.44942693T>G	CA346799922	SIX3	c.589T>G (p.Phe197Val)
2	g.44942694T>A	CA346799924	SIX3	c.590T>A (p.Phe197Tyr)

Number of alleles fetched