Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.47448932C>A	CA380337251	RAPSN	c.33G>T (p.Glu11Asp)
11	g.47448932C=	CA1969379599	RAPSN	c.33G= (p.Glu11=)
11	g.47448932C>G	CA221723561	RAPSN	c.33G>C (p.Glu11Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448932C>T	CA474220551	RAPSN	c.33G>A (p.Glu11=)
11	g.47448933T>A	CA380337255	RAPSN	c.32A>T (p.Glu11Val)
11	g.47448933T>C	CA380337258	RAPSN	c.32A>G (p.Glu11Gly)
11	g.47448933T>G	CA380337260	RAPSN	c.32A>C (p.Glu11Ala)
11	g.47448934C>A	CA380337269	RAPSN	c.31G>T (p.Glu11Ter)
11	g.47448934C=	CA1969379602	RAPSN	c.31G= (p.Glu11=)
11	g.47448934C>G	CA380337266	RAPSN	c.31G>C (p.Glu11Gln)
11	g.47448934C>T	CA5976852	RAPSN	c.31G>A (p.Glu11Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448935G>A	CA5976853	RAPSN	c.30C>T (p.Ile10=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448935G>C	CA380337281	RAPSN	c.30C>G (p.Ile10Met)	gnomAD v4
11	g.47448935G=	CA1969379603	RAPSN	c.30C= (p.Ile10=)
11	g.47448935G>T	CA474220557	RAPSN	c.30C>A (p.Ile10=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448936A=	CA1969379606	RAPSN	c.29T= (p.Ile10=)
11	g.47448936A>C	CA380337284	RAPSN	c.29T>G (p.Ile10Ser)
11	g.47448936A>G	CA380337285	RAPSN	c.29T>C (p.Ile10Thr)	ClinVar dbSNP
11	g.47448936A>T	CA380337286	RAPSN	c.29T>A (p.Ile10Asn)
11	g.47448937T>A	CA380337287	RAPSN	c.28A>T (p.Ile10Phe)	gnomAD v4
11	g.47448937T>C	CA380337288	RAPSN	c.28A>G (p.Ile10Val)
11	g.47448937T>G	CA380337289	RAPSN	c.28A>C (p.Ile10Leu)
11	g.47448938C>A	CA380337292	RAPSN	c.27G>T (p.Gln9His)
11	g.47448938C=	CA1969379608	RAPSN	c.27G= (p.Gln9=)
11	g.47448938C>G	CA380337295	RAPSN	c.27G>C (p.Gln9His)
11	g.47448938C>T	CA474220561	RAPSN	c.27G>A (p.Gln9=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.47448939T>A	CA380337299	RAPSN	c.26A>T (p.Gln9Leu)
11	g.47448939T>C	CA380337304	RAPSN	c.26A>G (p.Gln9Arg)
11	g.47448939T>G	CA380337305	RAPSN	c.26A>C (p.Gln9Pro)
11	g.47448940G>A	CA380337310	RAPSN	c.25C>T (p.Gln9Ter)
11	g.47448940G>C	CA380337319	RAPSN	c.25C>G (p.Gln9Glu)
11	g.47448940G>T	CA380337307	RAPSN	c.25C>A (p.Gln9Lys)
11	g.47448941C>A	CA380337322	RAPSN	c.24G>T (p.Gln8His)
11	g.47448941C=	CA1969379610	RAPSN	c.24G= (p.Gln8=)
11	g.47448941C>G	CA380337325	RAPSN	c.24G>C (p.Gln8His)
11	g.47448941C>T	CA474220564	RAPSN	c.24G>A (p.Gln8=)	dbSNP gnomAD v2 gnomAD v4
11	g.47448942T>A	CA380337328	RAPSN	c.23A>T (p.Gln8Leu)
11	g.47448942T>C	CA380337329	RAPSN	c.23A>G (p.Gln8Arg)
11	g.47448942T>G	CA380337330	RAPSN	c.23A>C (p.Gln8Pro)
11	g.47448943G>A	CA380337332	RAPSN	c.22C>T (p.Gln8Ter)	ClinVar
11	g.47448943G>C	CA380337334	RAPSN	c.22C>G (p.Gln8Glu)	gnomAD v4
11	g.47448943G=	CA1969379612	RAPSN	c.22C= (p.Gln8=)
11	g.47448943G>T	CA5976854	RAPSN	c.22C>A (p.Gln8Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.47448944C>A	CA380337337	RAPSN	c.21G>T (p.Lys7Asn)
11	g.47448944C>G	CA380337338	RAPSN	c.21G>C (p.Lys7Asn)
11	g.47448944C>T	CA474220570	RAPSN	c.21G>A (p.Lys7=)
11	g.47448945T>A	CA380337341	RAPSN	c.20A>T (p.Lys7Met)
11	g.47448945T>C	CA380337344	RAPSN	c.20A>G (p.Lys7Arg)
11	g.47448945T>G	CA380337347	RAPSN	c.20A>C (p.Lys7Thr)
11	g.47448946T>A	CA380337348	RAPSN	c.19A>T (p.Lys7Ter)

Number of alleles fetched