Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.44942113C>A	CA346798693	SIX3	c.9C>A (p.Phe3Leu)
2	g.44942113C=	CA2494534855	SIX3	c.9C= (p.Phe3=)
2	g.44942113C>G	CA346798694	SIX3	c.9C>G (p.Phe3Leu)
2	g.44942113C>T	CA426045566	SIX3	c.9C>T (p.Phe3=)	dbSNP gnomAD v4
2	g.44942114C>A	CA346798696	SIX3	c.10C>A (p.Arg4Ser)
2	g.44942114C>G	CA346798697	SIX3	c.10C>G (p.Arg4Gly)
2	g.44942114C>T	CA346798695	SIX3	c.10C>T (p.Arg4Cys)
2	g.44942115G>A	CA346798698	SIX3	c.11G>A (p.Arg4His)	gnomAD v4
2	g.44942115G>C	CA346798699	SIX3	c.11G>C (p.Arg4Pro)
2	g.44942115G>T	CA346798700	SIX3	c.11G>T (p.Arg4Leu)
2	g.44942116C>A	CA426045567	SIX3	c.12C>A (p.Arg4=)	gnomAD v4
2	g.44942116C=	CA2494534856	SIX3	c.12C= (p.Arg4=)
2	g.44942116C>G	CA426045568	SIX3	c.12C>G (p.Arg4=)
2	g.44942116C>T	CA426045569	SIX3	c.12C>T (p.Arg4=)	dbSNP
2	g.44942117T>A	CA346798701	SIX3	c.13T>A (p.Ser5Thr)
2	g.44942117T>C	CA346798702	SIX3	c.13T>C (p.Ser5Pro)	dbSNP gnomAD v4
2	g.44942117T>G	CA346798703	SIX3	c.13T>G (p.Ser5Ala)
2	g.44942117T=	CA2494534857	SIX3	c.13T= (p.Ser5=)
2	g.44942118C>A	CA1642231	SIX3	c.14C>A (p.Ser5Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942118C=	CA2494534858	SIX3	c.14C= (p.Ser5=)
2	g.44942118C>G	CA1642232	SIX3	c.14C>G (p.Ser5Cys)	dbSNP ExAC
2	g.44942118C>T	CA346798704	SIX3	c.14C>T (p.Ser5Phe)	dbSNP gnomAD v2 gnomAD v4
2	g.44942123dup	CA2658869169	SIX3	c.19dup (p.Leu7ProfsTer26)	gnomAD v4
2	g.44942123del	CA2658869170	SIX3	c.19del (p.Leu7Ter)	gnomAD v4
2	g.44942119C>A	CA426045570	SIX3	c.15C>A (p.Ser5=)	gnomAD v4
2	g.44942119C=	CA2494534859	SIX3	c.15C= (p.Ser5=)
2	g.44942119C>G	CA426045571	SIX3	c.15C>G (p.Ser5=)
2	g.44942119C>T	CA1642233	SIX3	c.15C>T (p.Ser5=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942120C>A	CA346798705	SIX3	c.16C>A (p.Pro6Thr)
2	g.44942120C>G	CA346798706	SIX3	c.16C>G (p.Pro6Ala)
2	g.44942120C>T	CA346798707	SIX3	c.16C>T (p.Pro6Ser)
2	g.44942121C>A	CA346798709	SIX3	c.17C>A (p.Pro6His)
2	g.44942121C=	CA2494534860	SIX3	c.17C= (p.Pro6=)
2	g.44942121C>G	CA346798708	SIX3	c.17C>G (p.Pro6Arg)	dbSNP
2	g.44942121C>T	CA1642234	SIX3	c.17C>T (p.Pro6Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942122C>A	CA1642235	SIX3	c.18C>A (p.Pro6=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942122C=	CA2494534861	SIX3	c.18C= (p.Pro6=)
2	g.44942122C>G	CA1642236	SIX3	c.18C>G (p.Pro6=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942122C>T	CA1642237	SIX3	c.18C>T (p.Pro6=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942123C>A	CA346798710	SIX3	c.19C>A (p.Leu7Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.44942123C=	CA2494534863	SIX3	c.19C= (p.Leu7=)
2	g.44942123C>G	CA346798711	SIX3	c.19C>G (p.Leu7Val)	gnomAD v4
2	g.44942123C>T	CA426045572	SIX3	c.19C>T (p.Leu7=)
2	g.44942123_44942124delinsCT	CA2494534862	SIX3	c.19_20delinsCT (p.Leu7=)
2	g.44942124del	CA769176718	SIX3	c.20del (p.Leu7GlnfsTer?)	ClinVar dbSNP gnomAD v4
2	g.44942124T>A	CA346798712	SIX3	c.20T>A (p.Leu7Gln)	dbSNP
2	g.44942124T>C	CA346798713	SIX3	c.20T>C (p.Leu7Pro)	gnomAD v4
2	g.44942124T>G	CA346798714	SIX3	c.20T>G (p.Leu7Arg)
2	g.44942124T=	CA2494534864	SIX3	c.20T= (p.Leu7=)
2	g.44942125A>C	CA426045573	SIX3	c.21A>C (p.Leu7=)

Number of alleles fetched