Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.116617289_116617290delinsCA	CA1657315020	RSPH4A	c.666_667delinsCA (p.Ser222=) n.3317_3318delinsCA
6	g.116617290del	CA264803	RSPH4A	c.667del (p.Ser223AlafsTer15) n.3318del	ClinVar dbSNP
6	g.116617290A=	CA1657315030	RSPH4A	c.667A= (p.Ser223=) n.3318A=
6	g.116617290A>C	CA365395735	RSPH4A	c.667A>C (p.Ser223Arg) n.3318A>C	dbSNP
6	g.116617290A>G	CA365395731	RSPH4A	c.667A>G (p.Ser223Gly) n.3318A>G	ClinVar dbSNP
6	g.116617290A>T	CA365395728	RSPH4A	c.667A>T (p.Ser223Cys) n.3318A>T
6	g.116617291G>A	CA365395739	RSPH4A	c.668G>A (p.Ser223Asn) n.3319G>A
6	g.116617291G>C	CA365395740	RSPH4A	c.668G>C (p.Ser223Thr) n.3319G>C
6	g.116617291G>T	CA365395741	RSPH4A	c.668G>T (p.Ser223Ile) n.3319G>T
6	g.116617292C>A	CA365395744	RSPH4A	c.669C>A (p.Ser223Arg) n.3320C>A	dbSNP gnomAD v2 gnomAD v4
6	g.116617292C=	CA1657315034	RSPH4A	c.669C= (p.Ser223=) n.3320C=
6	g.116617292C>G	CA365395750	RSPH4A	c.669C>G (p.Ser223Arg) n.3320C>G
6	g.116617292C>T	CA451619642	RSPH4A	c.669C>T (p.Ser223=) n.3320C>T
6	g.116617293A=	CA1657315036	RSPH4A	c.670A= (p.Asn224=) n.3321A=
6	g.116617293A>C	CA365395754	RSPH4A	c.670A>C (p.Asn224His) n.3321A>C	gnomAD v4
6	g.116617293A>G	CA365395756	RSPH4A	c.670A>G (p.Asn224Asp) n.3321A>G	dbSNP gnomAD v4
6	g.116617293A>T	CA365395759	RSPH4A	c.670A>T (p.Asn224Tyr) n.3321A>T
6	g.116617294A>C	CA365395762	RSPH4A	c.671A>C (p.Asn224Thr) n.3322A>C
6	g.116617294A>G	CA365395766	RSPH4A	c.671A>G (p.Asn224Ser) n.3322A>G
6	g.116617294A>T	CA365395777	RSPH4A	c.671A>T (p.Asn224Ile) n.3322A>T
6	g.116617295T>A	CA365395782	RSPH4A	c.672T>A (p.Asn224Lys) n.3323T>A
6	g.116617295T>C	CA451619643	RSPH4A	c.672T>C (p.Asn224=) n.3323T>C
6	g.116617295T>G	CA365395784	RSPH4A	c.672T>G (p.Asn224Lys) n.3323T>G
6	g.116617296T>A	CA365395786	RSPH4A	c.673T>A (p.Ser225Thr) n.3324T>A
6	g.116617296T>C	CA365395787	RSPH4A	c.673T>C (p.Ser225Pro) n.3324T>C
6	g.116617296T>G	CA365395785	RSPH4A	c.673T>G (p.Ser225Ala) n.3324T>G
6	g.116617297C>A	CA365395790	RSPH4A	c.674C>A (p.Ser225Ter) n.3325C>A	dbSNP
6	g.116617297C=	CA1657315038	RSPH4A	c.674C= (p.Ser225=) n.3325C=
6	g.116617297C>G	CA365395793	RSPH4A	c.674C>G (p.Ser225Trp) n.3325C>G
6	g.116617297C>T	CA3970803	RSPH4A	c.674C>T (p.Ser225Leu) n.3325C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617298G>A	CA3970805	RSPH4A	c.675G>A (p.Ser225=) n.3326G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617298G>C	CA451619644	RSPH4A	c.675G>C (p.Ser225=) n.3326G>C
6	g.116617298G=	CA1657315045	RSPH4A	c.675G= (p.Ser225=) n.3326G=
6	g.116617298G>T	CA3970804	RSPH4A	c.675G>T (p.Ser225=) n.3326G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617299G>A	CA365395806	RSPH4A	c.676G>A (p.Gly226Ser) n.3327G>A	gnomAD v4
6	g.116617299G>C	CA365395808	RSPH4A	c.676G>C (p.Gly226Arg) n.3327G>C
6	g.116617299G>T	CA365395814	RSPH4A	c.676G>T (p.Gly226Cys) n.3327G>T
6	g.116617300G>A	CA365395816	RSPH4A	c.677G>A (p.Gly226Asp) n.3328G>A
6	g.116617300G>C	CA365395819	RSPH4A	c.677G>C (p.Gly226Ala) n.3328G>C
6	g.116617300G=	CA1657315052	RSPH4A	c.677G= (p.Gly226=) n.3328G=
6	g.116617300G>T	CA365395822	RSPH4A	c.677G>T (p.Gly226Val) n.3328G>T	dbSNP gnomAD v2 gnomAD v4
6	g.116617301C>A	CA451619645	RSPH4A	c.678C>A (p.Gly226=) n.3329C>A	gnomAD v4
6	g.116617301C>G	CA451619646	RSPH4A	c.678C>G (p.Gly226=) n.3329C>G
6	g.116617301C>T	CA451619647	RSPH4A	c.678C>T (p.Gly226=) n.3329C>T
6	g.116617302T>A	CA365395828	RSPH4A	c.679T>A (p.Phe227Ile) n.3330T>A
6	g.116617302T>C	CA365395826	RSPH4A	c.679T>C (p.Phe227Leu) n.3330T>C
6	g.116617302T>G	CA365395824	RSPH4A	c.679T>G (p.Phe227Val) n.3330T>G
6	g.116617303T>A	CA365395832	RSPH4A	c.680T>A (p.Phe227Tyr) n.3331T>A
6	g.116617303T>C	CA365395835	RSPH4A	c.680T>C (p.Phe227Ser) n.3331T>C
6	g.116617303T>G	CA365395837	RSPH4A	c.680T>G (p.Phe227Cys) n.3331T>G

Number of alleles fetched