Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
6	g.116616861T=	CA1657314454	RSPH4A	c.238T= (p.Ser80=) n.2889T=
6	g.116616862C>A	CA365390918	RSPH4A	c.239C>A (p.Ser80Ter) n.2890C>A
6	g.116616862C>G	CA365390921	RSPH4A	c.239C>G (p.Ser80Ter) n.2890C>G
6	g.116616862C>T	CA365390924	RSPH4A	c.239C>T (p.Ser80Leu) n.2890C>T
6	g.116616863A>C	CA451903817	RSPH4A	c.240A>C (p.Ser80=) n.2891A>C
6	g.116616863A>G	CA451903818	RSPH4A	c.240A>G (p.Ser80=) n.2891A>G
6	g.116616863A>T	CA451903819	RSPH4A	c.240A>T (p.Ser80=) n.2891A>T
6	g.116616864T>A	CA365390950	RSPH4A	c.241T>A (p.Ser81Thr) n.2892T>A
6	g.116616864T>C	CA365390961	RSPH4A	c.241T>C (p.Ser81Pro) n.2892T>C	gnomAD v4
6	g.116616864T>G	CA365390953	RSPH4A	c.241T>G (p.Ser81Ala) n.2892T>G
6	g.116616865C>A	CA365390970	RSPH4A	c.242C>A (p.Ser81Ter) n.2893C>A
6	g.116616865C=	CA1657314457	RSPH4A	c.242C= (p.Ser81=) n.2893C=
6	g.116616865C>G	CA365390983	RSPH4A	c.242C>G (p.Ser81Ter) n.2893C>G
6	g.116616865C>T	CA3970726	RSPH4A	c.242C>T (p.Ser81Leu) n.2893C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616866A=	CA1657314460	RSPH4A	c.243A= (p.Ser81=) n.2894A=
6	g.116616866A>C	CA451903825	RSPH4A	c.243A>C (p.Ser81=) n.2894A>C	dbSNP
6	g.116616866A>G	CA451903824	RSPH4A	c.243A>G (p.Ser81=) n.2894A>G
6	g.116616866A>T	CA451903823	RSPH4A	c.243A>T (p.Ser81=) n.2894A>T
6	g.116616867C>A	CA365390993	RSPH4A	c.244C>A (p.Pro82Thr) n.2895C>A
6	g.116616867C=	CA1657314463	RSPH4A	c.244C= (p.Pro82=) n.2895C=
6	g.116616867C>G	CA365390998	RSPH4A	c.244C>G (p.Pro82Ala) n.2895C>G
6	g.116616867C>T	CA145923747	RSPH4A	c.244C>T (p.Pro82Ser) n.2895C>T	dbSNP gnomAD v3 gnomAD v4
6	g.116616868C>A	CA365391009	RSPH4A	c.245C>A (p.Pro82His) n.2896C>A	COSMIC
6	g.116616868C>G	CA365391013	RSPH4A	c.245C>G (p.Pro82Arg) n.2896C>G
6	g.116616868C>T	CA365391016	RSPH4A	c.245C>T (p.Pro82Leu) n.2896C>T
6	g.116616869T>A	CA451903830	RSPH4A	c.246T>A (p.Pro82=) n.2897T>A
6	g.116616869T>C	CA451903829	RSPH4A	c.246T>C (p.Pro82=) n.2897T>C
6	g.116616869T>G	CA451903828	RSPH4A	c.246T>G (p.Pro82=) n.2897T>G
6	g.116616870G>A	CA365391020	RSPH4A	c.247G>A (p.Ala83Thr) n.2898G>A	gnomAD v4
6	g.116616870G>C	CA365391021	RSPH4A	c.247G>C (p.Ala83Pro) n.2898G>C
6	g.116616870G=	CA1657314465	RSPH4A	c.247G= (p.Ala83=) n.2898G=
6	g.116616870G>T	CA3970727	RSPH4A	c.247G>T (p.Ala83Ser) n.2898G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.116616870dup	CA2578721810	RSPH4A	c.247dup (p.Ala83GlyfsTer?) n.2898dup
6	g.116616871C>A	CA365391034	RSPH4A	c.248C>A (p.Ala83Asp) n.2899C>A
6	g.116616871C>G	CA365391035	RSPH4A	c.248C>G (p.Ala83Gly) n.2899C>G
6	g.116616871C>T	CA365391025	RSPH4A	c.248C>T (p.Ala83Val) n.2899C>T
6	g.116616872T>A	CA451903832	RSPH4A	c.249T>A (p.Ala83=) n.2900T>A
6	g.116616872T>C	CA451903834	RSPH4A	c.249T>C (p.Ala83=) n.2900T>C	dbSNP gnomAD v2 gnomAD v4
6	g.116616872T>G	CA451903833	RSPH4A	c.249T>G (p.Ala83=) n.2900T>G
6	g.116616872T=	CA1657314467	RSPH4A	c.249T= (p.Ala83=) n.2900T=
6	g.116616873C>A	CA365391036	RSPH4A	c.250C>A (p.Pro84Thr) n.2901C>A
6	g.116616873C>G	CA365391037	RSPH4A	c.250C>G (p.Pro84Ala) n.2901C>G	gnomAD v4
6	g.116616873C>T	CA365391042	RSPH4A	c.250C>T (p.Pro84Ser) n.2901C>T
6	g.116616874C>A	CA365391045	RSPH4A	c.251C>A (p.Pro84His) n.2902C>A
6	g.116616874C>G	CA365391048	RSPH4A	c.251C>G (p.Pro84Arg) n.2902C>G
6	g.116616874C>T	CA365391049	RSPH4A	c.251C>T (p.Pro84Leu) n.2902C>T
6	g.116616875T>A	CA451903838	RSPH4A	c.252T>A (p.Pro84=) n.2903T>A	gnomAD v4
6	g.116616875T>C	CA451903839	RSPH4A	c.252T>C (p.Pro84=) n.2903T>C
6	g.116616875T>G	CA451903840	RSPH4A	c.252T>G (p.Pro84=) n.2903T>G
6	g.116616876G>A	CA365391050	RSPH4A	c.253G>A (p.Val85Ile) n.2904G>A
6	g.116616876G>C	CA365391059	RSPH4A	c.253G>C (p.Val85Leu) n.2904G>C
6	g.116616876G=	CA1657314469	RSPH4A	c.253G= (p.Val85=) n.2904G=
6	g.116616876G>T	CA145923755	RSPH4A	c.253G>T (p.Val85Phe) n.2904G>T	dbSNP
6	g.116616877T>A	CA365391063	RSPH4A	c.254T>A (p.Val85Asp) n.2905T>A
6	g.116616877T>C	CA365391064	RSPH4A	c.254T>C (p.Val85Ala) n.2905T>C
6	g.116616877T>G	CA365391072	RSPH4A	c.254T>G (p.Val85Gly) n.2905T>G
6	g.116616878C>A	CA451903843	RSPH4A	c.255C>A (p.Val85=) n.2906C>A
6	g.116616878C=	CA1657314472	RSPH4A	c.255C= (p.Val85=) n.2906C=
6	g.116616878C>G	CA451903844	RSPH4A	c.255C>G (p.Val85=) n.2906C>G
6	g.116616878C>T	CA3970728	RSPH4A	c.255C>T (p.Val85=) n.2906C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616879T>A	CA365391083	RSPH4A	c.256T>A (p.Ser86Thr) n.2907T>A
6	g.116616879T>C	CA365391095	RSPH4A	c.256T>C (p.Ser86Pro) n.2907T>C
6	g.116616879T>G	CA365391087	RSPH4A	c.256T>G (p.Ser86Ala) n.2907T>G
6	g.116616880C>A	CA365391098	RSPH4A	c.257C>A (p.Ser86Tyr) n.2908C>A
6	g.116616880C>G	CA365391100	RSPH4A	c.257C>G (p.Ser86Cys) n.2908C>G	gnomAD v4
6	g.116616880C>T	CA365391099	RSPH4A	c.257C>T (p.Ser86Phe) n.2908C>T
6	g.116616881T>A	CA451903846	RSPH4A	c.258T>A (p.Ser86=) n.2909T>A
6	g.116616881T>C	CA451903847	RSPH4A	c.258T>C (p.Ser86=) n.2909T>C
6	g.116616881T>G	CA451903848	RSPH4A	c.258T>G (p.Ser86=) n.2909T>G
6	g.116616882C>A	CA365391105	RSPH4A	c.259C>A (p.Pro87Thr) n.2910C>A
6	g.116616882C=	CA1657314475	RSPH4A	c.259C= (p.Pro87=) n.2910C=
6	g.116616882C>G	CA365391109	RSPH4A	c.259C>G (p.Pro87Ala) n.2910C>G
6	g.116616882C>T	CA3970729	RSPH4A	c.259C>T (p.Pro87Ser) n.2910C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616883C>A	CA365391113	RSPH4A	c.260C>A (p.Pro87Gln) n.2911C>A
6	g.116616883C=	CA1657314479	RSPH4A	c.260C= (p.Pro87=) n.2911C=
6	g.116616883C>G	CA365391114	RSPH4A	c.260C>G (p.Pro87Arg) n.2911C>G
6	g.116616883C>T	CA3970730	RSPH4A	c.260C>T (p.Pro87Leu) n.2911C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616884G>A	CA16612003	RSPH4A	c.261G>A (p.Pro87=) n.2912G>A	ClinVar dbSNP COSMIC
6	g.116616884G>C	CA451903852	RSPH4A	c.261G>C (p.Pro87=) n.2912G>C
6	g.116616884G=	CA1657314482	RSPH4A	c.261G= (p.Pro87=) n.2912G=
6	g.116616884G>T	CA451903853	RSPH4A	c.261G>T (p.Pro87=) n.2912G>T
6	g.116616885C>A	CA451903854	RSPH4A	c.262C>A (p.Arg88=) n.2913C>A
6	g.116616885C=	CA1657314484	RSPH4A	c.262C= (p.Arg88=) n.2913C=
6	g.116616885C>G	CA365391117	RSPH4A	c.262C>G (p.Arg88Gly) n.2913C>G
6	g.116616885C>T	CA3970731	RSPH4A	c.262C>T (p.Arg88Trp) n.2913C>T	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616886G>A	CA365391121	RSPH4A	c.263G>A (p.Arg88Gln) n.2914G>A	COSMIC
6	g.116616886G>C	CA365391124	RSPH4A	c.263G>C (p.Arg88Pro) n.2914G>C
6	g.116616886G>T	CA365391129	RSPH4A	c.263G>T (p.Arg88Leu) n.2914G>T
6	g.116616887G>A	CA451903857	RSPH4A	c.264G>A (p.Arg88=) n.2915G>A
6	g.116616887G>C	CA451903858	RSPH4A	c.264G>C (p.Arg88=) n.2915G>C
6	g.116616887G>T	CA451903859	RSPH4A	c.264G>T (p.Arg88=) n.2915G>T
6	g.116616888G>A	CA3970732	RSPH4A	c.265G>A (p.Glu89Lys) n.2916G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616888G>C	CA365391133	RSPH4A	c.265G>C (p.Glu89Gln) n.2916G>C
6	g.116616888G=	CA1657314486	RSPH4A	c.265G= (p.Glu89=) n.2916G=
6	g.116616888G>T	CA365391134	RSPH4A	c.265G>T (p.Glu89Ter) n.2916G>T	COSMIC
6	g.116616889A=	CA1657314488	RSPH4A	c.266A= (p.Glu89=) n.2917A=
6	g.116616889A>C	CA365391138	RSPH4A	c.266A>C (p.Glu89Ala) n.2917A>C
6	g.116616889A>G	CA3970733	RSPH4A	c.266A>G (p.Glu89Gly) n.2917A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616889A>T	CA365391139	RSPH4A	c.266A>T (p.Glu89Val) n.2917A>T
6	g.116616890G>A	CA451903863	RSPH4A	c.267G>A (p.Glu89=) n.2918G>A
6	g.116616890G>C	CA365391142	RSPH4A	c.267G>C (p.Glu89Asp) n.2918G>C
6	g.116616890G>T	CA365391144	RSPH4A	c.267G>T (p.Glu89Asp) n.2918G>T
6	g.116616890_116616891delinsGC	CA1657314490	RSPH4A	c.267_268delinsGC (p.Glu89=) n.2918_2919delinsGC
6	g.116616891C>A	CA3970734	RSPH4A	c.268C>A (p.Pro90Thr) n.2919C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616891C=	CA1657314493	RSPH4A	c.268C= (p.Pro90=) n.2919C=
6	g.116616891C>G	CA365391149	RSPH4A	c.268C>G (p.Pro90Ala) n.2919C>G	gnomAD v4
6	g.116616891C>T	CA145923769	RSPH4A	c.268C>T (p.Pro90Ser) n.2919C>T	dbSNP
6	g.116616893del	CA570038170	RSPH4A	c.270del (p.Ser91LeufsTer26) n.2921del	dbSNP gnomAD v2 gnomAD v4
6	g.116616892C>A	CA365391160	RSPH4A	c.269C>A (p.Pro90His) n.2920C>A	dbSNP gnomAD v2 gnomAD v4
6	g.116616892C=	CA1657314495	RSPH4A	c.269C= (p.Pro90=) n.2920C=
6	g.116616892C>G	CA365391161	RSPH4A	c.269C>G (p.Pro90Arg) n.2920C>G
6	g.116616892C>T	CA365391162	RSPH4A	c.269C>T (p.Pro90Leu) n.2920C>T
6	g.116616892_116616894delinsCCT	CA1657314496	RSPH4A	c.269_271delinsCCT (p.Pro90=) n.2920_2922delinsCCT
6	g.116616893C>A	CA451903867	RSPH4A	c.270C>A (p.Pro90=) n.2921C>A
6	g.116616893C=	CA1657314498	RSPH4A	c.270C= (p.Pro90=) n.2921C=
6	g.116616893C>G	CA3970735	RSPH4A	c.270C>G (p.Pro90=) n.2921C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616893C>T	CA451903865	RSPH4A	c.270C>T (p.Pro90=) n.2921C>T
6	g.116616895_116616896del	CA1093542386	RSPH4A	c.272_273del (p.Ser91PhefsTer28) n.2923_2924del	dbSNP gnomAD v3 gnomAD v4
6	g.116616894T>A	CA365391184	RSPH4A	c.271T>A (p.Ser91Thr) n.2922T>A
6	g.116616894T>C	CA365391187	RSPH4A	c.271T>C (p.Ser91Pro) n.2922T>C
6	g.116616894T>G	CA365391180	RSPH4A	c.271T>G (p.Ser91Ala) n.2922T>G
6	g.116616895C>A	CA365391213	RSPH4A	c.272C>A (p.Ser91Tyr) n.2923C>A
6	g.116616895C=	CA1657314500	RSPH4A	c.272C= (p.Ser91=) n.2923C=
6	g.116616895C>G	CA3970736	RSPH4A	c.272C>G (p.Ser91Cys) n.2923C>G	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616895C>T	CA365391225	RSPH4A	c.272C>T (p.Ser91Phe) n.2923C>T
6	g.116616896T>A	CA451903870	RSPH4A	c.273T>A (p.Ser91=) n.2924T>A
6	g.116616896T>C	CA451903871	RSPH4A	c.273T>C (p.Ser91=) n.2924T>C
6	g.116616896T>G	CA451903873	RSPH4A	c.273T>G (p.Ser91=) n.2924T>G
6	g.116616897T>A	CA365391243	RSPH4A	c.274T>A (p.Ser92Thr) n.2925T>A
6	g.116616897T>C	CA365391246	RSPH4A	c.274T>C (p.Ser92Pro) n.2925T>C
6	g.116616897T>G	CA365391248	RSPH4A	c.274T>G (p.Ser92Ala) n.2925T>G
6	g.116616898C>A	CA365391252	RSPH4A	c.275C>A (p.Ser92Tyr) n.2926C>A
6	g.116616898C=	CA1657314502	RSPH4A	c.275C= (p.Ser92=) n.2926C=
6	g.116616898C>G	CA365391256	RSPH4A	c.275C>G (p.Ser92Cys) n.2926C>G	dbSNP
6	g.116616898C>T	CA365391270	RSPH4A	c.275C>T (p.Ser92Phe) n.2926C>T	COSMIC
6	g.116616899C>A	CA451903876	RSPH4A	c.276C>A (p.Ser92=) n.2927C>A
6	g.116616899C=	CA1657314504	RSPH4A	c.276C= (p.Ser92=) n.2927C=
6	g.116616899C>G	CA451903877	RSPH4A	c.276C>G (p.Ser92=) n.2927C>G
6	g.116616899C>T	CA451903879	RSPH4A	c.276C>T (p.Ser92=) n.2927C>T	dbSNP gnomAD v2 gnomAD v4
6	g.116616902_116616903del	CA2695206905	RSPH4A	c.279_280del (p.Pro94PhefsTer25) n.2930_2931del
6	g.116616900T>A	CA365391282	RSPH4A	c.277T>A (p.Ser93Thr) n.2928T>A
6	g.116616900T>C	CA365391286	RSPH4A	c.277T>C (p.Ser93Pro) n.2928T>C
6	g.116616900T>G	CA365391294	RSPH4A	c.277T>G (p.Ser93Ala) n.2928T>G
6	g.116616901C>A	CA365391314	RSPH4A	c.278C>A (p.Ser93Tyr) n.2929C>A
6	g.116616901C>G	CA365391312	RSPH4A	c.278C>G (p.Ser93Cys) n.2929C>G	COSMIC
6	g.116616901C>T	CA365391313	RSPH4A	c.278C>T (p.Ser93Phe) n.2929C>T
6	g.116616902T>A	CA451903882	RSPH4A	c.279T>A (p.Ser93=) n.2930T>A
6	g.116616902T>C	CA3970737	RSPH4A	c.279T>C (p.Ser93=) n.2930T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616902T>G	CA451903885	RSPH4A	c.279T>G (p.Ser93=) n.2930T>G
6	g.116616902T=	CA1657314506	RSPH4A	c.279T= (p.Ser93=) n.2930T=
6	g.116616903C>A	CA365391326	RSPH4A	c.280C>A (p.Pro94Thr) n.2931C>A
6	g.116616903C>G	CA365391329	RSPH4A	c.280C>G (p.Pro94Ala) n.2931C>G
6	g.116616903C>T	CA365391338	RSPH4A	c.280C>T (p.Pro94Ser) n.2931C>T
6	g.116616903_116616906delinsCCTT	CA1657314508	RSPH4A	c.280_283delinsCCTT (p.Pro94=) n.2931_2934delinsCCTT
6	g.116616904C>A	CA365391344	RSPH4A	c.281C>A (p.Pro94His) n.2932C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616904C=	CA1657314512	RSPH4A	c.281C= (p.Pro94=) n.2932C=
6	g.116616904C>G	CA365391359	RSPH4A	c.281C>G (p.Pro94Arg) n.2932C>G
6	g.116616904C>T	CA365391361	RSPH4A	c.281C>T (p.Pro94Leu) n.2932C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.116616906_116616908del	CA570038171	RSPH4A	c.283_285del (p.Ser95del) n.2934_2936del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616905T>A	CA451903887	RSPH4A	c.282T>A (p.Pro94=) n.2933T>A
6	g.116616905T>C	CA451903888	RSPH4A	c.282T>C (p.Pro94=) n.2933T>C
6	g.116616905T>G	CA451903889	RSPH4A	c.282T>G (p.Pro94=) n.2933T>G
6	g.116616906T>A	CA365391371	RSPH4A	c.283T>A (p.Ser95Thr) n.2934T>A
6	g.116616906T>C	CA365391379	RSPH4A	c.283T>C (p.Ser95Pro) n.2934T>C	dbSNP
6	g.116616906T>G	CA365391380	RSPH4A	c.283T>G (p.Ser95Ala) n.2934T>G
6	g.116616906T=	CA1657314514	RSPH4A	c.283T= (p.Ser95=) n.2934T=
6	g.116616907C>A	CA365391388	RSPH4A	c.284C>A (p.Ser95Tyr) n.2935C>A
6	g.116616907C>G	CA365391392	RSPH4A	c.284C>G (p.Ser95Cys) n.2935C>G
6	g.116616907C>T	CA365391395	RSPH4A	c.284C>T (p.Ser95Phe) n.2935C>T
6	g.116616908T>A	CA451903738	RSPH4A	c.285T>A (p.Ser95=) n.2936T>A
6	g.116616908T>C	CA451903739	RSPH4A	c.285T>C (p.Ser95=) n.2936T>C
6	g.116616908T>G	CA451903740	RSPH4A	c.285T>G (p.Ser95=) n.2936T>G
6	g.116616909C>A	CA365391404	RSPH4A	c.286C>A (p.Pro96Thr) n.2937C>A
6	g.116616909C=	CA1657314517	RSPH4A	c.286C= (p.Pro96=) n.2937C=
6	g.116616909C>G	CA365391405	RSPH4A	c.286C>G (p.Pro96Ala) n.2937C>G	dbSNP gnomAD v3 gnomAD v4 COSMIC
6	g.116616909C>T	CA3970738	RSPH4A	c.286C>T (p.Pro96Ser) n.2937C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616910C>A	CA365391411	RSPH4A	c.287C>A (p.Pro96His) n.2938C>A
6	g.116616910C=	CA1657314519	RSPH4A	c.287C= (p.Pro96=) n.2938C=
6	g.116616910C>G	CA365391406	RSPH4A	c.287C>G (p.Pro96Arg) n.2938C>G
6	g.116616910C>T	CA3970739	RSPH4A	c.287C>T (p.Pro96Leu) n.2938C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.116616911C>A	CA451903745	RSPH4A	c.288C>A (p.Pro96=) n.2939C>A
6	g.116616911C>G	CA451903747	RSPH4A	c.288C>G (p.Pro96=) n.2939C>G
6	g.116616911C>T	CA451903748	RSPH4A	c.288C>T (p.Pro96=) n.2939C>T
6	g.116616912C>A	CA365391415	RSPH4A	c.289C>A (p.Leu97Met) n.2940C>A
6	g.116616912C>G	CA365391425	RSPH4A	c.289C>G (p.Leu97Val) n.2940C>G	gnomAD v4
6	g.116616912C>T	CA451903750	RSPH4A	c.289C>T (p.Leu97=) n.2940C>T
6	g.116616913del	CA2680117675	RSPH4A	c.290del (p.Leu97ArgfsTer20) n.2941del	gnomAD v4
6	g.116616913T>A	CA365391436	RSPH4A	c.290T>A (p.Leu97Gln) n.2941T>A
6	g.116616913T>C	CA365391447	RSPH4A	c.290T>C (p.Leu97Pro) n.2941T>C	dbSNP gnomAD v2 gnomAD v4
6	g.116616913T>G	CA365391455	RSPH4A	c.290T>G (p.Leu97Arg) n.2941T>G
6	g.116616913T=	CA1657314522	RSPH4A	c.290T= (p.Leu97=) n.2941T=
6	g.116616914G>A	CA451903753	RSPH4A	c.291G>A (p.Leu97=) n.2942G>A
6	g.116616914G>C	CA451903754	RSPH4A	c.291G>C (p.Leu97=) n.2942G>C
6	g.116616914G>T	CA451903755	RSPH4A	c.291G>T (p.Leu97=) n.2942G>T
6	g.116616915G>A	CA365391467	RSPH4A	c.292G>A (p.Ala98Thr) n.2943G>A	dbSNP gnomAD v2
6	g.116616915G>C	CA365391475	RSPH4A	c.292G>C (p.Ala98Pro) n.2943G>C
6	g.116616915G=	CA1657314524	RSPH4A	c.292G= (p.Ala98=) n.2943G=
6	g.116616915G>T	CA365391476	RSPH4A	c.292G>T (p.Ala98Ser) n.2943G>T	dbSNP
6	g.116616916C>A	CA365391477	RSPH4A	c.293C>A (p.Ala98Asp) n.2944C>A
6	g.116616916C=	CA1657314526	RSPH4A	c.293C= (p.Ala98=) n.2944C=
6	g.116616916C>G	CA365391478	RSPH4A	c.293C>G (p.Ala98Gly) n.2944C>G
6	g.116616916C>T	CA365391483	RSPH4A	c.293C>T (p.Ala98Val) n.2944C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616917T>A	CA451903757	RSPH4A	c.294T>A (p.Ala98=) n.2945T>A
6	g.116616917T>C	CA451903758	RSPH4A	c.294T>C (p.Ala98=) n.2945T>C
6	g.116616917T>G	CA451903759	RSPH4A	c.294T>G (p.Ala98=) n.2945T>G
6	g.116616918C>A	CA365391491	RSPH4A	c.295C>A (p.Pro99Thr) n.2946C>A
6	g.116616918C=	CA1657314528	RSPH4A	c.295C= (p.Pro99=) n.2946C=
6	g.116616918C>G	CA365391528	RSPH4A	c.295C>G (p.Pro99Ala) n.2946C>G	dbSNP gnomAD v2 gnomAD v4
6	g.116616918C>T	CA365391502	RSPH4A	c.295C>T (p.Pro99Ser) n.2946C>T
6	g.116616919C>A	CA365391532	RSPH4A	c.296C>A (p.Pro99Gln) n.2947C>A
6	g.116616919C=	CA1657314531	RSPH4A	c.296C= (p.Pro99=) n.2947C=
6	g.116616919C>G	CA365391545	RSPH4A	c.296C>G (p.Pro99Arg) n.2947C>G
6	g.116616919C>T	CA365391550	RSPH4A	c.296C>T (p.Pro99Leu) n.2947C>T	ClinVar dbSNP
6	g.116616920G>A	CA451903763	RSPH4A	c.297G>A (p.Pro99=) n.2948G>A	dbSNP gnomAD v4
6	g.116616920G>C	CA451903765	RSPH4A	c.297G>C (p.Pro99=) n.2948G>C
6	g.116616920G=	CA1657314533	RSPH4A	c.297G= (p.Pro99=) n.2948G=
6	g.116616920G>T	CA451903764	RSPH4A	c.297G>T (p.Pro99=) n.2948G>T	dbSNP gnomAD v2 gnomAD v4
6	g.116616921G>A	CA365391555	RSPH4A	c.298G>A (p.Ala100Thr) n.2949G>A	gnomAD v4
6	g.116616921G>C	CA365391557	RSPH4A	c.298G>C (p.Ala100Pro) n.2949G>C
6	g.116616921G>T	CA365391559	RSPH4A	c.298G>T (p.Ala100Ser) n.2949G>T	gnomAD v4
6	g.116616922C>A	CA365391561	RSPH4A	c.299C>A (p.Ala100Asp) n.2950C>A	gnomAD v4
6	g.116616922C>G	CA365391567	RSPH4A	c.299C>G (p.Ala100Gly) n.2950C>G
6	g.116616922C>T	CA365391571	RSPH4A	c.299C>T (p.Ala100Val) n.2950C>T
6	g.116616923C>A	CA451903772	RSPH4A	c.300C>A (p.Ala100=) n.2951C>A
6	g.116616923C>G	CA451903770	RSPH4A	c.300C>G (p.Ala100=) n.2951C>G
6	g.116616923C>T	CA451903769	RSPH4A	c.300C>T (p.Ala100=) n.2951C>T
6	g.116616924A=	CA1657314536	RSPH4A	c.301A= (p.Arg101=) n.2952A=
6	g.116616924A>C	CA451903773	RSPH4A	c.301A>C (p.Arg101=) n.2952A>C
6	g.116616924A>G	CA3970740	RSPH4A	c.301A>G (p.Arg101Gly) n.2952A>G	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616924A>T	CA365391576	RSPH4A	c.301A>T (p.Arg101Ter) n.2952A>T
6	g.116616925G>A	CA365391579	RSPH4A	c.302G>A (p.Arg101Lys) n.2953G>A
6	g.116616925G>C	CA365391584	RSPH4A	c.302G>C (p.Arg101Thr) n.2953G>C
6	g.116616925G>T	CA365391577	RSPH4A	c.302G>T (p.Arg101Ile) n.2953G>T
6	g.116616926A>C	CA365391590	RSPH4A	c.303A>C (p.Arg101Ser) n.2954A>C
6	g.116616926A>G	CA451903777	RSPH4A	c.303A>G (p.Arg101=) n.2954A>G
6	g.116616926A>T	CA365391593	RSPH4A	c.303A>T (p.Arg101Ser) n.2954A>T
6	g.116616927C>A	CA365391594	RSPH4A	c.304C>A (p.Gln102Lys) n.2955C>A	dbSNP
6	g.116616927C=	CA1657314539	RSPH4A	c.304C= (p.Gln102=) n.2955C=
6	g.116616927C>G	CA365391595	RSPH4A	c.304C>G (p.Gln102Glu) n.2955C>G
6	g.116616927C>T	CA365391596	RSPH4A	c.304C>T (p.Gln102Ter) n.2955C>T
6	g.116616928A>C	CA365391600	RSPH4A	c.305A>C (p.Gln102Pro) n.2956A>C
6	g.116616928A>G	CA365391606	RSPH4A	c.305A>G (p.Gln102Arg) n.2956A>G
6	g.116616928A>T	CA365391609	RSPH4A	c.305A>T (p.Gln102Leu) n.2956A>T
6	g.116616929A=	CA1657314541	RSPH4A	c.306A= (p.Gln102=) n.2957A=
6	g.116616929A>C	CA365391613	RSPH4A	c.306A>C (p.Gln102His) n.2957A>C
6	g.116616929A>G	CA451903781	RSPH4A	c.306A>G (p.Gln102=) n.2957A>G
6	g.116616929A>T	CA365391618	RSPH4A	c.306A>T (p.Gln102His) n.2957A>T	dbSNP gnomAD v3 gnomAD v4
6	g.116616930G>A	CA365391627	RSPH4A	c.307G>A (p.Asp103Asn) n.2958G>A
6	g.116616930G>C	CA365391650	RSPH4A	c.307G>C (p.Asp103His) n.2958G>C
6	g.116616930G=	CA1657314544	RSPH4A	c.307G= (p.Asp103=) n.2958G=
6	g.116616930G>T	CA3970741	RSPH4A	c.307G>T (p.Asp103Tyr) n.2958G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616931A=	CA1657314548	RSPH4A	c.308A= (p.Asp103=) n.2959A=
6	g.116616931A>C	CA365391660	RSPH4A	c.308A>C (p.Asp103Ala) n.2959A>C
6	g.116616931A>G	CA365391664	RSPH4A	c.308A>G (p.Asp103Gly) n.2959A>G	gnomAD v4
6	g.116616931A>T	CA365391659	RSPH4A	c.308A>T (p.Asp103Val) n.2959A>T	dbSNP gnomAD v2 gnomAD v4
6	g.116616932C>A	CA365391667	RSPH4A	c.309C>A (p.Asp103Glu) n.2960C>A
6	g.116616932C>G	CA365391677	RSPH4A	c.309C>G (p.Asp103Glu) n.2960C>G
6	g.116616932C>T	CA451903785	RSPH4A	c.309C>T (p.Asp103=) n.2960C>T
6	g.116616933del	CA2569864898	RSPH4A	c.310del (p.Leu104SerfsTer13) n.2961del
6	g.116616933C>A	CA365391694	RSPH4A	c.310C>A (p.Leu104Ile) n.2961C>A
6	g.116616933C>G	CA365391703	RSPH4A	c.310C>G (p.Leu104Val) n.2961C>G	gnomAD v4
6	g.116616933C>T	CA365391709	RSPH4A	c.310C>T (p.Leu104Phe) n.2961C>T
6	g.116616934T>A	CA365391718	RSPH4A	c.311T>A (p.Leu104His) n.2962T>A
6	g.116616934T>C	CA365391717	RSPH4A	c.311T>C (p.Leu104Pro) n.2962T>C
6	g.116616934T>G	CA365391716	RSPH4A	c.311T>G (p.Leu104Arg) n.2962T>G
6	g.116616935C>A	CA451903789	RSPH4A	c.312C>A (p.Leu104=) n.2963C>A	gnomAD v4
6	g.116616935C>G	CA451903790	RSPH4A	c.312C>G (p.Leu104=) n.2963C>G
6	g.116616935C>T	CA451903791	RSPH4A	c.312C>T (p.Leu104=) n.2963C>T	gnomAD v4
6	g.116616936G>A	CA145923784	RSPH4A	c.313G>A (p.Ala105Thr) n.2964G>A	dbSNP gnomAD v4
6	g.116616936G>C	CA365391738	RSPH4A	c.313G>C (p.Ala105Pro) n.2964G>C
6	g.116616936G=	CA1657314550	RSPH4A	c.313G= (p.Ala105=) n.2964G=
6	g.116616936G>T	CA365391742	RSPH4A	c.313G>T (p.Ala105Ser) n.2964G>T
6	g.116616937C>A	CA365391747	RSPH4A	c.314C>A (p.Ala105Glu) n.2965C>A	dbSNP gnomAD v2 gnomAD v4
6	g.116616937C=	CA1657314554	RSPH4A	c.314C= (p.Ala105=) n.2965C=
6	g.116616937C>G	CA365391751	RSPH4A	c.314C>G (p.Ala105Gly) n.2965C>G
6	g.116616937C>T	CA365391770	RSPH4A	c.314C>T (p.Ala105Val) n.2965C>T
6	g.116616938G>A	CA451903795	RSPH4A	c.315G>A (p.Ala105=) n.2966G>A	gnomAD v4
6	g.116616938G>C	CA451903796	RSPH4A	c.315G>C (p.Ala105=) n.2966G>C
6	g.116616938G>T	CA451903797	RSPH4A	c.315G>T (p.Ala105=) n.2966G>T
6	g.116616939G>A	CA365391776	RSPH4A	c.316G>A (p.Ala106Thr) n.2967G>A
6	g.116616939G>C	CA365391778	RSPH4A	c.316G>C (p.Ala106Pro) n.2967G>C
6	g.116616939G>T	CA365391777	RSPH4A	c.316G>T (p.Ala106Ser) n.2967G>T
6	g.116616940C>A	CA365391785	RSPH4A	c.317C>A (p.Ala106Glu) n.2968C>A
6	g.116616940C=	CA1657314556	RSPH4A	c.317C= (p.Ala106=) n.2968C=
6	g.116616940C>G	CA365391802	RSPH4A	c.317C>G (p.Ala106Gly) n.2968C>G
6	g.116616940C>T	CA3970742	RSPH4A	c.317C>T (p.Ala106Val) n.2968C>T	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616941A>C	CA451903801	RSPH4A	c.318A>C (p.Ala106=) n.2969A>C
6	g.116616941A>G	CA451903803	RSPH4A	c.318A>G (p.Ala106=) n.2969A>G	gnomAD v4
6	g.116616941A>T	CA451903802	RSPH4A	c.318A>T (p.Ala106=) n.2969A>T
6	g.116616942C>A	CA365391804	RSPH4A	c.319C>A (p.Pro107Thr) n.2970C>A
6	g.116616942C=	CA1657314561	RSPH4A	c.319C= (p.Pro107=) n.2970C=
6	g.116616942C>G	CA365391810	RSPH4A	c.319C>G (p.Pro107Ala) n.2970C>G
6	g.116616942C>T	CA365391806	RSPH4A	c.319C>T (p.Pro107Ser) n.2970C>T	dbSNP
6	g.116616943C>A	CA365391816	RSPH4A	c.320C>A (p.Pro107Gln) n.2971C>A
6	g.116616943C>G	CA365391863	RSPH4A	c.320C>G (p.Pro107Arg) n.2971C>G
6	g.116616943C>T	CA365391839	RSPH4A	c.320C>T (p.Pro107Leu) n.2971C>T
6	g.116616944A=	CA1657314563	RSPH4A	c.321A= (p.Pro107=) n.2972A=
6	g.116616944A>C	CA451903807	RSPH4A	c.321A>C (p.Pro107=) n.2972A>C
6	g.116616944A>G	CA451903808	RSPH4A	c.321A>G (p.Pro107=) n.2972A>G	dbSNP gnomAD v4
6	g.116616944A>T	CA451903809	RSPH4A	c.321A>T (p.Pro107=) n.2972A>T
6	g.116616945C>A	CA365391870	RSPH4A	c.322C>A (p.Pro108Thr) n.2973C>A
6	g.116616945C=	CA1657314567	RSPH4A	c.322C= (p.Pro108=) n.2973C=
6	g.116616945C>G	CA365391871	RSPH4A	c.322C>G (p.Pro108Ala) n.2973C>G
6	g.116616945C>T	CA365391872	RSPH4A	c.322C>T (p.Pro108Ser) n.2973C>T	dbSNP
6	g.116616946C>A	CA365391875	RSPH4A	c.323C>A (p.Pro108His) n.2974C>A	dbSNP gnomAD v3 gnomAD v4
6	g.116616946C=	CA1657314569	RSPH4A	c.323C= (p.Pro108=) n.2974C=
6	g.116616946C>G	CA365391876	RSPH4A	c.323C>G (p.Pro108Arg) n.2974C>G
6	g.116616946C>T	CA365391877	RSPH4A	c.323C>T (p.Pro108Leu) n.2974C>T
6	g.116616947T>A	CA451903811	RSPH4A	c.324T>A (p.Pro108=) n.2975T>A
6	g.116616947T>C	CA451903812	RSPH4A	c.324T>C (p.Pro108=) n.2975T>C
6	g.116616947T>G	CA451903813	RSPH4A	c.324T>G (p.Pro108=) n.2975T>G
6	g.116616948C>A	CA365391879	RSPH4A	c.325C>A (p.Gln109Lys) n.2976C>A
6	g.116616948C=	CA1657314570	RSPH4A	c.325C= (p.Gln109=) n.2976C=
6	g.116616948C>G	CA365391881	RSPH4A	c.325C>G (p.Gln109Glu) n.2976C>G
6	g.116616948C>T	CA339819	RSPH4A	c.325C>T (p.Gln109Ter) n.2976C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616949A>C	CA365391900	RSPH4A	c.326A>C (p.Gln109Pro) n.2977A>C
6	g.116616949A>G	CA365391901	RSPH4A	c.326A>G (p.Gln109Arg) n.2977A>G
6	g.116616949A>T	CA365391902	RSPH4A	c.326A>T (p.Gln109Leu) n.2977A>T

Number of alleles fetched