Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.53686452G>A	CA251691	RPGRIP1L	c.757C>T (p.Gln253Ter) n.800C>T n.789C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.53686452G>C	CA395923769	RPGRIP1L	c.757C>G (p.Gln253Glu) n.800C>G n.789C>G	gnomAD v4
16	g.53686452G=	CA2223270712	RPGRIP1L	c.757C= (p.Gln253=) n.800C= n.789C=
16	g.53686452G>T	CA395923770	RPGRIP1L	c.757C>A (p.Gln253Lys) n.800C>A n.789C>A
16	g.53686453T>A	CA395923771	RPGRIP1L	c.756A>T (p.Glu252Asp) n.799A>T n.788A>T	dbSNP
16	g.53686453T>C	CA495539001	RPGRIP1L	c.756A>G (p.Glu252=) n.799A>G n.788A>G
16	g.53686453T>G	CA395923772	RPGRIP1L	c.756A>C (p.Glu252Asp) n.799A>C n.788A>C
16	g.53686453T=	CA2223270715	RPGRIP1L	c.756A= (p.Glu252=) n.799A= n.788A=
16	g.53686454T>A	CA395923773	RPGRIP1L	c.755A>T (p.Glu252Val) n.798A>T n.787A>T
16	g.53686454T>C	CA395923774	RPGRIP1L	c.755A>G (p.Glu252Gly) n.798A>G n.787A>G
16	g.53686454T>G	CA395923775	RPGRIP1L	c.755A>C (p.Glu252Ala) n.798A>C n.787A>C
16	g.53686455C>A	CA395923776	RPGRIP1L	c.754G>T (p.Glu252Ter) n.797G>T n.786G>T
16	g.53686455C>G	CA395923777	RPGRIP1L	c.754G>C (p.Glu252Gln) n.797G>C n.786G>C
16	g.53686455C>T	CA395923778	RPGRIP1L	c.754G>A (p.Glu252Lys) n.797G>A n.786G>A
16	g.53686456T>A	CA495539002	RPGRIP1L	c.753A>T (p.Arg251=) n.796A>T n.785A>T
16	g.53686456T>C	CA495539003	RPGRIP1L	c.753A>G (p.Arg251=) n.796A>G n.785A>G
16	g.53686456T>G	CA495539004	RPGRIP1L	c.753A>C (p.Arg251=) n.796A>C n.785A>C
16	g.53686457C>A	CA395923779	RPGRIP1L	c.752G>T (p.Arg251Leu) n.795G>T n.784G>T
16	g.53686457C=	CA2223270718	RPGRIP1L	c.752G= (p.Arg251=) n.795G= n.784G=
16	g.53686457C>G	CA395923780	RPGRIP1L	c.752G>C (p.Arg251Pro) n.795G>C n.784G>C	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.53686457C>T	CA8058037	RPGRIP1L	c.752G>A (p.Arg251Gln) n.795G>A n.784G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.53686458G>A	CA281371218	RPGRIP1L	c.751C>T (p.Arg251Ter) n.794C>T n.783C>T	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16	g.53686458G>C	CA395923781	RPGRIP1L	c.751C>G (p.Arg251Gly) n.794C>G n.783C>G	gnomAD v4
16	g.53686458G=	CA2223270726	RPGRIP1L	c.751C= (p.Arg251=) n.794C= n.783C=
16	g.53686458G>T	CA495539005	RPGRIP1L	c.751C>A (p.Arg251=) n.794C>A n.783C>A
16	g.53686459A>C	CA495539006	RPGRIP1L	c.750T>G (p.Leu250=) n.793T>G n.782T>G
16	g.53686459A>G	CA495539007	RPGRIP1L	c.750T>C (p.Leu250=) n.793T>C n.782T>C
16	g.53686459A>T	CA495539008	RPGRIP1L	c.750T>A (p.Leu250=) n.793T>A n.782T>A	gnomAD v4
16	g.53686460A>C	CA395923782	RPGRIP1L	c.749T>G (p.Leu250Arg) n.792T>G n.781T>G
16	g.53686460A>G	CA395923783	RPGRIP1L	c.749T>C (p.Leu250Pro) n.792T>C n.781T>C
16	g.53686460A>T	CA395923784	RPGRIP1L	c.749T>A (p.Leu250His) n.792T>A n.781T>A
16	g.53686461G>A	CA8058038	RPGRIP1L	c.748C>T (p.Leu250Phe) n.791C>T n.780C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.53686461G>C	CA395923785	RPGRIP1L	c.748C>G (p.Leu250Val) n.791C>G n.780C>G
16	g.53686461G=	CA2223270731	RPGRIP1L	c.748C= (p.Leu250=) n.791C= n.780C=
16	g.53686461G>T	CA395923786	RPGRIP1L	c.748C>A (p.Leu250Ile) n.791C>A n.780C>A
16	g.53686462C>A	CA395923787	RPGRIP1L	c.747G>T (p.Gln249His) n.790G>T n.779G>T	gnomAD v4
16	g.53686462C=	CA2223270737	RPGRIP1L	c.747G= (p.Gln249=) n.790G= n.779G=
16	g.53686462C>G	CA395923788	RPGRIP1L	c.747G>C (p.Gln249His) n.790G>C n.779G>C	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.53686462C>T	CA495539009	RPGRIP1L	c.747G>A (p.Gln249=) n.790G>A n.779G>A	gnomAD v4
16	g.53686463T>A	CA395923789	RPGRIP1L	c.746A>T (p.Gln249Leu) n.789A>T n.778A>T	dbSNP
16	g.53686463T>C	CA395923790	RPGRIP1L	c.746A>G (p.Gln249Arg) n.789A>G n.778A>G	dbSNP gnomAD v2 gnomAD v4
16	g.53686463T>G	CA395923791	RPGRIP1L	c.746A>C (p.Gln249Pro) n.789A>C n.778A>C
16	g.53686463T=	CA2223270742	RPGRIP1L	c.746A= (p.Gln249=) n.789A= n.778A=
16	g.53686463_53686466delinsTGAA	CA2223270740	RPGRIP1L	c.743_746delinsTTCA (p.Leu248=) n.786_789delinsTTCA n.775_778delinsTTCA
16	g.53686464G>A	CA395923794	RPGRIP1L	c.745C>T (p.Gln249Ter) n.788C>T n.777C>T	ClinVar dbSNP
16	g.53686464G>C	CA395923793	RPGRIP1L	c.745C>G (p.Gln249Glu) n.788C>G n.777C>G	COSMIC
16	g.53686464G=	CA2223270752	RPGRIP1L	c.745C= (p.Gln249=) n.788C= n.777C=
16	g.53686464G>T	CA395923792	RPGRIP1L	c.745C>A (p.Gln249Lys) n.788C>A n.777C>A
16	g.53686469_53686471del	CA622268089	RPGRIP1L	c.743_745del (p.Leu248del) n.786_788del n.775_777del	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.53686465A>C	CA495539010	RPGRIP1L	c.744T>G (p.Leu248=) n.787T>G n.776T>G	ClinVar gnomAD v4

Number of alleles fetched