Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.116616848G>A	CA451903792	RSPH4A	c.225G>A (p.Ala75=) n.2876G>A
6	g.116616848G>C	CA451903793	RSPH4A	c.225G>C (p.Ala75=) n.2876G>C
6	g.116616848G>T	CA451903794	RSPH4A	c.225G>T (p.Ala75=) n.2876G>T	dbSNP
6	g.116616849G>A	CA365390817	RSPH4A	c.226G>A (p.Gly76Arg) n.2877G>A	gnomAD v4
6	g.116616849G>C	CA365390812	RSPH4A	c.226G>C (p.Gly76Arg) n.2877G>C
6	g.116616849G>T	CA365390815	RSPH4A	c.226G>T (p.Gly76Ter) n.2877G>T	COSMIC
6	g.116616850G>A	CA365390820	RSPH4A	c.227G>A (p.Gly76Glu) n.2878G>A	gnomAD v4
6	g.116616850G>C	CA365390826	RSPH4A	c.227G>C (p.Gly76Ala) n.2878G>C
6	g.116616850G>T	CA365390822	RSPH4A	c.227G>T (p.Gly76Val) n.2878G>T
6	g.116616851A>C	CA451903800	RSPH4A	c.228A>C (p.Gly76=) n.2879A>C	COSMIC
6	g.116616851A>G	CA451903798	RSPH4A	c.228A>G (p.Gly76=) n.2879A>G
6	g.116616851A>T	CA451903799	RSPH4A	c.228A>T (p.Gly76=) n.2879A>T
6	g.116616852C>A	CA365390829	RSPH4A	c.229C>A (p.Pro77Thr) n.2880C>A
6	g.116616852C>G	CA365390836	RSPH4A	c.229C>G (p.Pro77Ala) n.2880C>G
6	g.116616852C>T	CA365390837	RSPH4A	c.229C>T (p.Pro77Ser) n.2880C>T	gnomAD v4
6	g.116616853C>A	CA365390839	RSPH4A	c.230C>A (p.Pro77Gln) n.2881C>A
6	g.116616853C>G	CA365390842	RSPH4A	c.230C>G (p.Pro77Arg) n.2881C>G
6	g.116616853C>T	CA365390850	RSPH4A	c.230C>T (p.Pro77Leu) n.2881C>T
6	g.116616854A=	CA1657314442	RSPH4A	c.231A= (p.Pro77=) n.2882A=
6	g.116616854A>C	CA451903804	RSPH4A	c.231A>C (p.Pro77=) n.2882A>C
6	g.116616854A>G	CA451903805	RSPH4A	c.231A>G (p.Pro77=) n.2882A>G	dbSNP gnomAD v4
6	g.116616854A>T	CA451903806	RSPH4A	c.231A>T (p.Pro77=) n.2882A>T
6	g.116616855G>A	CA365390853	RSPH4A	c.232G>A (p.Glu78Lys) n.2883G>A
6	g.116616855G>C	CA365390856	RSPH4A	c.232G>C (p.Glu78Gln) n.2883G>C
6	g.116616855G=	CA1657314444	RSPH4A	c.232G= (p.Glu78=) n.2883G=
6	g.116616855G>T	CA365390859	RSPH4A	c.232G>T (p.Glu78Ter) n.2883G>T
6	g.116616856A>C	CA365390864	RSPH4A	c.233A>C (p.Glu78Ala) n.2884A>C
6	g.116616856A>G	CA365390866	RSPH4A	c.233A>G (p.Glu78Gly) n.2884A>G
6	g.116616856A>T	CA365390869	RSPH4A	c.233A>T (p.Glu78Val) n.2884A>T
6	g.116616858dup	CA1093542360	RSPH4A	c.235dup (p.Thr79AsnfsTer?) n.2886dup	dbSNP gnomAD v3 gnomAD v4
6	g.116616858del	CA2680117674	RSPH4A	c.235del (p.Thr79HisfsTer?) n.2886del	ClinVar gnomAD v4
6	g.116616857A>C	CA365390871	RSPH4A	c.234A>C (p.Glu78Asp) n.2885A>C
6	g.116616857A>G	CA451903810	RSPH4A	c.234A>G (p.Glu78=) n.2885A>G
6	g.116616857A>T	CA365390870	RSPH4A	c.234A>T (p.Glu78Asp) n.2885A>T
6	g.116616858A>C	CA365390875	RSPH4A	c.235A>C (p.Thr79Pro) n.2886A>C
6	g.116616858A>G	CA365390877	RSPH4A	c.235A>G (p.Thr79Ala) n.2886A>G	gnomAD v4
6	g.116616858A>T	CA365390880	RSPH4A	c.235A>T (p.Thr79Ser) n.2886A>T
6	g.116616858_116616861delinsACAT	CA1657314446	RSPH4A	c.235_238delinsACAT (p.Thr79=) n.2886_2889delinsACAT
6	g.116616859C>A	CA365390888	RSPH4A	c.236C>A (p.Thr79Lys) n.2887C>A
6	g.116616859C=	CA1657314448	RSPH4A	c.236C= (p.Thr79=) n.2887C=
6	g.116616859C>G	CA365390894	RSPH4A	c.236C>G (p.Thr79Arg) n.2887C>G
6	g.116616859C>T	CA365390896	RSPH4A	c.236C>T (p.Thr79Ile) n.2887C>T	ClinVar dbSNP gnomAD v4
6	g.116616864_116616866del	CA3970724	RSPH4A	c.241_243del (p.Ser81del) n.2892_2894del	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616860A=	CA1657314451	RSPH4A	c.237A= (p.Thr79=) n.2888A=
6	g.116616860A>C	CA451903814	RSPH4A	c.237A>C (p.Thr79=) n.2888A>C
6	g.116616860A>G	CA3970725	RSPH4A	c.237A>G (p.Thr79=) n.2888A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616860A>T	CA451903815	RSPH4A	c.237A>T (p.Thr79=) n.2888A>T
6	g.116616861T>A	CA365390903	RSPH4A	c.238T>A (p.Ser80Thr) n.2889T>A	dbSNP gnomAD v3 gnomAD v4
6	g.116616861T>C	CA365390906	RSPH4A	c.238T>C (p.Ser80Pro) n.2889T>C	gnomAD v4
6	g.116616861T>G	CA365390913	RSPH4A	c.238T>G (p.Ser80Ala) n.2889T>G

Number of alleles fetched