Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.116617082_116617090delinsTCAGCAACC	CA1657314795	RSPH4A	c.459_467delinsTCAGCAACC (p.Ser153=) n.3110_3118delinsTCAGCAACC
6	g.116617083C>A	CA365393498	RSPH4A	c.460C>A (p.Gln154Lys) n.3111C>A
6	g.116617083C=	CA1657314800	RSPH4A	c.460C= (p.Gln154=) n.3111C=
6	g.116617083C>G	CA365393504	RSPH4A	c.460C>G (p.Gln154Glu) n.3111C>G	gnomAD v4
6	g.116617083C>T	CA339817	RSPH4A	c.460C>T (p.Gln154Ter) n.3111C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617085_116617092del	CA817710095	RSPH4A	c.462_469del (p.Gln155ThrfsTer12) n.3113_3120del	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.116617084A=	CA1657314808	RSPH4A	c.461A= (p.Gln154=) n.3112A=
6	g.116617084A>C	CA365393514	RSPH4A	c.461A>C (p.Gln154Pro) n.3112A>C	gnomAD v4
6	g.116617084A>G	CA365393515	RSPH4A	c.461A>G (p.Gln154Arg) n.3112A>G	ClinVar dbSNP gnomAD v4
6	g.116617084A>T	CA365393516	RSPH4A	c.461A>T (p.Gln154Leu) n.3112A>T
6	g.116617085G>A	CA451903975	RSPH4A	c.462G>A (p.Gln154=) n.3113G>A
6	g.116617085G>C	CA365393517	RSPH4A	c.462G>C (p.Gln154His) n.3113G>C
6	g.116617085G>T	CA365393520	RSPH4A	c.462G>T (p.Gln154His) n.3113G>T
6	g.116617086C>A	CA365393526	RSPH4A	c.463C>A (p.Gln155Lys) n.3114C>A	dbSNP gnomAD v3 gnomAD v4
6	g.116617086C=	CA1657314814	RSPH4A	c.463C= (p.Gln155=) n.3114C=
6	g.116617086C>G	CA365393530	RSPH4A	c.463C>G (p.Gln155Glu) n.3114C>G
6	g.116617086C>T	CA365393523	RSPH4A	c.463C>T (p.Gln155Ter) n.3114C>T
6	g.116617087A>C	CA365393535	RSPH4A	c.464A>C (p.Gln155Pro) n.3115A>C
6	g.116617087A>G	CA365393539	RSPH4A	c.464A>G (p.Gln155Arg) n.3115A>G
6	g.116617087A>T	CA365393541	RSPH4A	c.464A>T (p.Gln155Leu) n.3115A>T
6	g.116617088A>C	CA365393548	RSPH4A	c.465A>C (p.Gln155His) n.3116A>C
6	g.116617088A>G	CA451903976	RSPH4A	c.465A>G (p.Gln155=) n.3116A>G	ClinVar
6	g.116617088A>T	CA365393551	RSPH4A	c.465A>T (p.Gln155His) n.3116A>T
6	g.116617089C>A	CA365393555	RSPH4A	c.466C>A (p.Pro156Thr) n.3117C>A
6	g.116617089C>G	CA365393558	RSPH4A	c.466C>G (p.Pro156Ala) n.3117C>G
6	g.116617089C>T	CA365393561	RSPH4A	c.466C>T (p.Pro156Ser) n.3117C>T	gnomAD v4
6	g.116617090C>A	CA365393570	RSPH4A	c.467C>A (p.Pro156His) n.3118C>A	dbSNP gnomAD v2 gnomAD v4
6	g.116617090C=	CA1657314816	RSPH4A	c.467C= (p.Pro156=) n.3118C=
6	g.116617090C>G	CA365393572	RSPH4A	c.467C>G (p.Pro156Arg) n.3118C>G
6	g.116617090C>T	CA365393577	RSPH4A	c.467C>T (p.Pro156Leu) n.3118C>T
6	g.116617091C>A	CA451903977	RSPH4A	c.468C>A (p.Pro156=) n.3119C>A
6	g.116617091C=	CA1657314819	RSPH4A	c.468C= (p.Pro156=) n.3119C=
6	g.116617091C>G	CA451903979	RSPH4A	c.468C>G (p.Pro156=) n.3119C>G
6	g.116617091C>T	CA451903978	RSPH4A	c.468C>T (p.Pro156=) n.3119C>T
6	g.116617092A>C	CA365393592	RSPH4A	c.469A>C (p.Lys157Gln) n.3120A>C
6	g.116617092A>G	CA365393587	RSPH4A	c.469A>G (p.Lys157Glu) n.3120A>G
6	g.116617092A>T	CA365393584	RSPH4A	c.469A>T (p.Lys157Ter) n.3120A>T
6	g.116617093_116617094dup	CA3970768	RSPH4A	c.470_471dup (p.Pro158AsnfsTer10) n.3121_3122dup	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617093A=	CA1657314821	RSPH4A	c.470A= (p.Lys157=) n.3121A=
6	g.116617093A>C	CA365393595	RSPH4A	c.470A>C (p.Lys157Thr) n.3121A>C
6	g.116617093A>G	CA3970769	RSPH4A	c.470A>G (p.Lys157Arg) n.3121A>G	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617093A>T	CA365393596	RSPH4A	c.470A>T (p.Lys157Ile) n.3121A>T
6	g.116617094A>C	CA365393600	RSPH4A	c.471A>C (p.Lys157Asn) n.3122A>C
6	g.116617094A>G	CA451903982	RSPH4A	c.471A>G (p.Lys157=) n.3122A>G
6	g.116617094A>T	CA365393604	RSPH4A	c.471A>T (p.Lys157Asn) n.3122A>T
6	g.116617095C>A	CA365393615	RSPH4A	c.472C>A (p.Pro158Thr) n.3123C>A
6	g.116617095C=	CA1657314828	RSPH4A	c.472C= (p.Pro158=) n.3123C=
6	g.116617095C>G	CA365393609	RSPH4A	c.472C>G (p.Pro158Ala) n.3123C>G
6	g.116617095C>T	CA365393612	RSPH4A	c.472C>T (p.Pro158Ser) n.3123C>T	dbSNP gnomAD v4
6	g.116617098dup	CA2680117679	RSPH4A	c.475dup (p.His159ProfsTer11) n.3126dup	gnomAD v4
6	g.116617098del	CA2772740999	RSPH4A	c.475del (p.His159ThrfsTer8) n.3126del
6	g.116617096C>A	CA365393621	RSPH4A	c.473C>A (p.Pro158His) n.3124C>A
6	g.116617096C>G	CA365393624	RSPH4A	c.473C>G (p.Pro158Arg) n.3124C>G
6	g.116617096C>T	CA365393628	RSPH4A	c.473C>T (p.Pro158Leu) n.3124C>T
6	g.116617097C>A	CA451903984	RSPH4A	c.474C>A (p.Pro158=) n.3125C>A	gnomAD v4
6	g.116617097C>G	CA451903985	RSPH4A	c.474C>G (p.Pro158=) n.3125C>G	gnomAD v4
6	g.116617097C>T	CA451903986	RSPH4A	c.474C>T (p.Pro158=) n.3125C>T
6	g.116617098C>A	CA365393635	RSPH4A	c.475C>A (p.His159Asn) n.3126C>A
6	g.116617098C>G	CA365393641	RSPH4A	c.475C>G (p.His159Asp) n.3126C>G
6	g.116617098C>T	CA365393645	RSPH4A	c.475C>T (p.His159Tyr) n.3126C>T
6	g.116617099_116617100insAACACACCCAACACA	CA2772741000	RSPH4A	c.476_477insAACACACCCAACACA (p.Pro158_His159insGlnThrHisProThr) n.3127_3128insAACACACCCAACACA
6	g.116617099A>C	CA365393654	RSPH4A	c.476A>C (p.His159Pro) n.3127A>C
6	g.116617099A>G	CA365393668	RSPH4A	c.476A>G (p.His159Arg) n.3127A>G
6	g.116617099A>T	CA365393650	RSPH4A	c.476A>T (p.His159Leu) n.3127A>T
6	g.116617100C>A	CA365393678	RSPH4A	c.477C>A (p.His159Gln) n.3128C>A	gnomAD v4
6	g.116617100C>G	CA365393681	RSPH4A	c.477C>G (p.His159Gln) n.3128C>G
6	g.116617100C>T	CA451903989	RSPH4A	c.477C>T (p.His159=) n.3128C>T	gnomAD v4
6	g.116617101C>A	CA365393692	RSPH4A	c.478C>A (p.Leu160Met) n.3129C>A	gnomAD v4
6	g.116617101C=	CA1657314830	RSPH4A	c.478C= (p.Leu160=) n.3129C=
6	g.116617101C>G	CA365393695	RSPH4A	c.478C>G (p.Leu160Val) n.3129C>G	gnomAD v4
6	g.116617101C>T	CA3970770	RSPH4A	c.478C>T (p.Leu160=) n.3129C>T	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617102del	CA2499218047	RSPH4A	c.479del (p.Leu160ArgfsTer7) n.3130del	ClinVar dbSNP
6	g.116617102T>A	CA365393705	RSPH4A	c.479T>A (p.Leu160Gln) n.3130T>A	dbSNP gnomAD v2 gnomAD v4
6	g.116617102T>C	CA365393711	RSPH4A	c.479T>C (p.Leu160Pro) n.3130T>C
6	g.116617102T>G	CA365393715	RSPH4A	c.479T>G (p.Leu160Arg) n.3130T>G
6	g.116617102T=	CA1657314833	RSPH4A	c.479T= (p.Leu160=) n.3130T=
6	g.116617103G>A	CA451903990	RSPH4A	c.480G>A (p.Leu160=) n.3131G>A	gnomAD v4
6	g.116617103G>C	CA451903991	RSPH4A	c.480G>C (p.Leu160=) n.3131G>C
6	g.116617103G>T	CA451903992	RSPH4A	c.480G>T (p.Leu160=) n.3131G>T
6	g.116617104T>A	CA365393716	RSPH4A	c.481T>A (p.Cys161Ser) n.3132T>A
6	g.116617104T>C	CA365393717	RSPH4A	c.481T>C (p.Cys161Arg) n.3132T>C
6	g.116617104T>G	CA365393719	RSPH4A	c.481T>G (p.Cys161Gly) n.3132T>G
6	g.116617105G>A	CA365393724	RSPH4A	c.482G>A (p.Cys161Tyr) n.3133G>A	gnomAD v4
6	g.116617105G>C	CA365393728	RSPH4A	c.482G>C (p.Cys161Ser) n.3133G>C
6	g.116617105G>T	CA365393729	RSPH4A	c.482G>T (p.Cys161Phe) n.3133G>T
6	g.116617106_116617123del	CA2680117680	RSPH4A	c.483_500del (p.Gly162_Ser167del) n.3134_3151del	gnomAD v4
6	g.116617106T>A	CA365393730	RSPH4A	c.483T>A (p.Cys161Ter) n.3134T>A
6	g.116617106T>C	CA451903994	RSPH4A	c.483T>C (p.Cys161=) n.3134T>C
6	g.116617106T>G	CA365393731	RSPH4A	c.483T>G (p.Cys161Trp) n.3134T>G
6	g.116617107G>A	CA365393733	RSPH4A	c.484G>A (p.Gly162Arg) n.3135G>A
6	g.116617107G>C	CA365393735	RSPH4A	c.484G>C (p.Gly162Arg) n.3135G>C
6	g.116617107G>T	CA365393736	RSPH4A	c.484G>T (p.Gly162Ter) n.3135G>T	gnomAD v4
6	g.116617108G>A	CA365393737	RSPH4A	c.485G>A (p.Gly162Glu) n.3136G>A
6	g.116617108G>C	CA365393746	RSPH4A	c.485G>C (p.Gly162Ala) n.3136G>C
6	g.116617108G>T	CA365393749	RSPH4A	c.485G>T (p.Gly162Val) n.3136G>T
6	g.116617109A>C	CA451903996	RSPH4A	c.486A>C (p.Gly162=) n.3137A>C
6	g.116617109A>G	CA451903998	RSPH4A	c.486A>G (p.Gly162=) n.3137A>G
6	g.116617109A>T	CA451903999	RSPH4A	c.486A>T (p.Gly162=) n.3137A>T
6	g.116617109_116617110insTCT	CA2560938940	RSPH4A	c.486_487insTCT (p.Gly162_Arg163insSer) n.3137_3138insTCT
6	g.116617110C>A	CA451904000	RSPH4A	c.487C>A (p.Arg163=) n.3138C>A
6	g.116617110C=	CA1657314835	RSPH4A	c.487C= (p.Arg163=) n.3138C=
6	g.116617110C>G	CA365393755	RSPH4A	c.487C>G (p.Arg163Gly) n.3138C>G	dbSNP gnomAD v3 gnomAD v4
6	g.116617110C>T	CA365393769	RSPH4A	c.487C>T (p.Arg163Ter) n.3138C>T	dbSNP
6	g.116617111G>A	CA365393776	RSPH4A	c.488G>A (p.Arg163Gln) n.3139G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617111G>C	CA365393780	RSPH4A	c.488G>C (p.Arg163Pro) n.3139G>C
6	g.116617111G=	CA1657314841	RSPH4A	c.488G= (p.Arg163=) n.3139G=
6	g.116617111G>T	CA365393786	RSPH4A	c.488G>T (p.Arg163Leu) n.3139G>T	COSMIC
6	g.116617112A>C	CA451904001	RSPH4A	c.489A>C (p.Arg163=) n.3140A>C
6	g.116617112A>G	CA451904002	RSPH4A	c.489A>G (p.Arg163=) n.3140A>G
6	g.116617112A>T	CA451904003	RSPH4A	c.489A>T (p.Arg163=) n.3140A>T
6	g.116617113A>C	CA451904004	RSPH4A	c.490A>C (p.Arg164=) n.3141A>C
6	g.116617113A>G	CA365393790	RSPH4A	c.490A>G (p.Arg164Gly) n.3141A>G	COSMIC
6	g.116617113A>T	CA365393791	RSPH4A	c.490A>T (p.Arg164Trp) n.3141A>T
6	g.116617114G>A	CA365393798	RSPH4A	c.491G>A (p.Arg164Lys) n.3142G>A
6	g.116617114G>C	CA365393792	RSPH4A	c.491G>C (p.Arg164Thr) n.3142G>C
6	g.116617114G>T	CA365393794	RSPH4A	c.491G>T (p.Arg164Met) n.3142G>T
6	g.116617115G>A	CA3970771	RSPH4A	c.492G>A (p.Arg164=) n.3143G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.116617115G>C	CA365393809	RSPH4A	c.492G>C (p.Arg164Ser) n.3143G>C
6	g.116617115G=	CA1657314845	RSPH4A	c.492G= (p.Arg164=) n.3143G=
6	g.116617115G>T	CA365393812	RSPH4A	c.492G>T (p.Arg164Ser) n.3143G>T	dbSNP gnomAD v2 gnomAD v4
6	g.116617115_116617116insTC	CA2517670977	RSPH4A	c.492_493insTC (p.Asp165SerfsTer3) n.3143_3144insTC
6	g.116617116G>A	CA365393817	RSPH4A	c.493G>A (p.Asp165Asn) n.3144G>A
6	g.116617116G>C	CA365393818	RSPH4A	c.493G>C (p.Asp165His) n.3144G>C	gnomAD v4
6	g.116617116G>T	CA365393820	RSPH4A	c.493G>T (p.Asp165Tyr) n.3144G>T
6	g.116617117A=	CA1657314851	RSPH4A	c.494A= (p.Asp165=) n.3145A=
6	g.116617117A>C	CA365393824	RSPH4A	c.494A>C (p.Asp165Ala) n.3145A>C
6	g.116617117A>G	CA3970772	RSPH4A	c.494A>G (p.Asp165Gly) n.3145A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617117A>T	CA3970773	RSPH4A	c.494A>T (p.Asp165Val) n.3145A>T	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617118C>A	CA365393833	RSPH4A	c.495C>A (p.Asp165Glu) n.3146C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617118C=	CA1657314855	RSPH4A	c.495C= (p.Asp165=) n.3146C=
6	g.116617118C>G	CA365393836	RSPH4A	c.495C>G (p.Asp165Glu) n.3146C>G
6	g.116617118C>T	CA3970774	RSPH4A	c.495C>T (p.Asp165=) n.3146C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.116617118_116617119insCCAAACCCCACCT	CA3970775	RSPH4A	c.495_496insCCAAACCCCACCT (p.Val166ProfsTer8) n.3146_3147insCCAAACCCCACCT	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617119G>A	CA365393864	RSPH4A	c.496G>A (p.Val166Met) n.3147G>A	dbSNP gnomAD v4
6	g.116617119G>C	CA145923873	RSPH4A	c.496G>C (p.Val166Leu) n.3147G>C	dbSNP
6	g.116617119G=	CA1657314866	RSPH4A	c.496G= (p.Val166=) n.3147G=
6	g.116617119G>T	CA145923876	RSPH4A	c.496G>T (p.Val166Leu) n.3147G>T	dbSNP
6	g.116617120T>A	CA365393896	RSPH4A	c.497T>A (p.Val166Glu) n.3148T>A
6	g.116617120T>C	CA365393900	RSPH4A	c.497T>C (p.Val166Ala) n.3148T>C	gnomAD v4
6	g.116617120T>G	CA365393904	RSPH4A	c.497T>G (p.Val166Gly) n.3148T>G
6	g.116617120dup	CA3970776	RSPH4A	c.497dup (p.Ser167GlufsTer3) n.3148dup	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617121del	CA2539215695	RSPH4A	c.498del (p.Ser167AlafsTer10) n.3149del
6	g.116617121G>A	CA451904011	RSPH4A	c.498G>A (p.Val166=) n.3149G>A
6	g.116617121G>C	CA451904012	RSPH4A	c.498G>C (p.Val166=) n.3149G>C
6	g.116617121G=	CA1657314877	RSPH4A	c.498G= (p.Val166=) n.3149G=
6	g.116617121G>T	CA3970777	RSPH4A	c.498G>T (p.Val166=) n.3149G>T	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617122A>C	CA365393907	RSPH4A	c.499A>C (p.Ser167Arg) n.3150A>C
6	g.116617122A>G	CA365393909	RSPH4A	c.499A>G (p.Ser167Gly) n.3150A>G
6	g.116617122A>T	CA365393914	RSPH4A	c.499A>T (p.Ser167Cys) n.3150A>T
6	g.116617123G>A	CA365393921	RSPH4A	c.500G>A (p.Ser167Asn) n.3151G>A
6	g.116617123G>C	CA365393925	RSPH4A	c.500G>C (p.Ser167Thr) n.3151G>C
6	g.116617123G>T	CA365393928	RSPH4A	c.500G>T (p.Ser167Ile) n.3151G>T
6	g.116617124C>A	CA365393929	RSPH4A	c.501C>A (p.Ser167Arg) n.3152C>A
6	g.116617124C>G	CA365393930	RSPH4A	c.501C>G (p.Ser167Arg) n.3152C>G
6	g.116617124C>T	CA451904014	RSPH4A	c.501C>T (p.Ser167=) n.3152C>T
6	g.116617125T>A	CA365393935	RSPH4A	c.502T>A (p.Tyr168Asn) n.3153T>A
6	g.116617125T>C	CA365393938	RSPH4A	c.502T>C (p.Tyr168His) n.3153T>C	dbSNP
6	g.116617125T>G	CA365393932	RSPH4A	c.502T>G (p.Tyr168Asp) n.3153T>G
6	g.116617125T=	CA1657314881	RSPH4A	c.502T= (p.Tyr168=) n.3153T=
6	g.116617126A=	CA1657314884	RSPH4A	c.503A= (p.Tyr168=) n.3154A=
6	g.116617126A>C	CA365393945	RSPH4A	c.503A>C (p.Tyr168Ser) n.3154A>C
6	g.116617126A>G	CA365393949	RSPH4A	c.503A>G (p.Tyr168Cys) n.3154A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617126A>T	CA365393955	RSPH4A	c.503A>T (p.Tyr168Phe) n.3154A>T
6	g.116617127T>A	CA365393958	RSPH4A	c.504T>A (p.Tyr168Ter) n.3155T>A
6	g.116617127T>C	CA451904016	RSPH4A	c.504T>C (p.Tyr168=) n.3155T>C
6	g.116617127T>G	CA365393960	RSPH4A	c.504T>G (p.Tyr168Ter) n.3155T>G
6	g.116617128A>C	CA365393962	RSPH4A	c.505A>C (p.Asn169His) n.3156A>C
6	g.116617128A>G	CA365393965	RSPH4A	c.505A>G (p.Asn169Asp) n.3156A>G	ClinVar
6	g.116617128A>T	CA365393970	RSPH4A	c.505A>T (p.Asn169Tyr) n.3156A>T
6	g.116617129A>C	CA365393975	RSPH4A	c.506A>C (p.Asn169Thr) n.3157A>C
6	g.116617129A>G	CA365393977	RSPH4A	c.506A>G (p.Asn169Ser) n.3157A>G
6	g.116617129A>T	CA365393978	RSPH4A	c.506A>T (p.Asn169Ile) n.3157A>T
6	g.116617130C>A	CA365393982	RSPH4A	c.507C>A (p.Asn169Lys) n.3158C>A
6	g.116617130C>G	CA365393985	RSPH4A	c.507C>G (p.Asn169Lys) n.3158C>G
6	g.116617130C>T	CA451904017	RSPH4A	c.507C>T (p.Asn169=) n.3158C>T
6	g.116617131A>C	CA365394006	RSPH4A	c.508A>C (p.Asn170His) n.3159A>C
6	g.116617131A>G	CA365393996	RSPH4A	c.508A>G (p.Asn170Asp) n.3159A>G
6	g.116617131A>T	CA365393990	RSPH4A	c.508A>T (p.Asn170Tyr) n.3159A>T
6	g.116617132A>C	CA365394013	RSPH4A	c.509A>C (p.Asn170Thr) n.3160A>C
6	g.116617132A>G	CA365394019	RSPH4A	c.509A>G (p.Asn170Ser) n.3160A>G
6	g.116617132A>T	CA365394027	RSPH4A	c.509A>T (p.Asn170Ile) n.3160A>T
6	g.116617133C>A	CA365394033	RSPH4A	c.510C>A (p.Asn170Lys) n.3161C>A	gnomAD v4
6	g.116617133C=	CA1657314886	RSPH4A	c.510C= (p.Asn170=) n.3161C=
6	g.116617133C>G	CA365394041	RSPH4A	c.510C>G (p.Asn170Lys) n.3161C>G
6	g.116617133C>T	CA451904021	RSPH4A	c.510C>T (p.Asn170=) n.3161C>T
6	g.116617133_116617136del	CA2566695768	RSPH4A	c.510_513del (p.Asn170LysfsTer6) n.3161_3164del
6	g.116617133_116617134insA	CA570038164	RSPH4A	c.510_511insA (p.Ala171SerfsTer2) n.3161_3162insA	dbSNP gnomAD v2 gnomAD v4
6	g.116617134G>A	CA145923881	RSPH4A	c.511G>A (p.Ala171Thr) n.3162G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617134G>C	CA3970778	RSPH4A	c.511G>C (p.Ala171Pro) n.3162G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617134G=	CA1657314889	RSPH4A	c.511G= (p.Ala171=) n.3162G=
6	g.116617134G>T	CA365394044	RSPH4A	c.511G>T (p.Ala171Ser) n.3162G>T
6	g.116617135C>A	CA365394049	RSPH4A	c.512C>A (p.Ala171Asp) n.3163C>A
6	g.116617135C>G	CA365394052	RSPH4A	c.512C>G (p.Ala171Gly) n.3163C>G
6	g.116617135C>T	CA365394057	RSPH4A	c.512C>T (p.Ala171Val) n.3163C>T	ClinVar gnomAD v4
6	g.116617135_116617136del	CA570038165	RSPH4A	c.512_513del (p.Ala171GlufsTer8) n.3163_3164del	gnomAD v2 gnomAD v4
6	g.116617136T>A	CA451904022	RSPH4A	c.513T>A (p.Ala171=) n.3164T>A
6	g.116617136T>C	CA451904024	RSPH4A	c.513T>C (p.Ala171=) n.3164T>C
6	g.116617136T>G	CA451904023	RSPH4A	c.513T>G (p.Ala171=) n.3164T>G
6	g.116617137A=	CA1657314895	RSPH4A	c.514A= (p.Lys172=) n.3165A=
6	g.116617137A>C	CA365394061	RSPH4A	c.514A>C (p.Lys172Gln) n.3165A>C	dbSNP gnomAD v3 gnomAD v4
6	g.116617137A>G	CA145923886	RSPH4A	c.514A>G (p.Lys172Glu) n.3165A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617137A>T	CA365394064	RSPH4A	c.514A>T (p.Lys172Ter) n.3165A>T	gnomAD v4
6	g.116617138A>C	CA365394079	RSPH4A	c.515A>C (p.Lys172Thr) n.3166A>C
6	g.116617138A>G	CA365394085	RSPH4A	c.515A>G (p.Lys172Arg) n.3166A>G
6	g.116617138A>T	CA365394075	RSPH4A	c.515A>T (p.Lys172Ile) n.3166A>T
6	g.116617139A>C	CA365394090	RSPH4A	c.516A>C (p.Lys172Asn) n.3167A>C
6	g.116617139A>G	CA451904027	RSPH4A	c.516A>G (p.Lys172=) n.3167A>G
6	g.116617139A>T	CA365394095	RSPH4A	c.516A>T (p.Lys172Asn) n.3167A>T
6	g.116617140C>A	CA365394100	RSPH4A	c.517C>A (p.Gln173Lys) n.3168C>A
6	g.116617140C=	CA1657314900	RSPH4A	c.517C= (p.Gln173=) n.3168C=
6	g.116617140C>G	CA365394107	RSPH4A	c.517C>G (p.Gln173Glu) n.3168C>G
6	g.116617140C>T	CA365394109	RSPH4A	c.517C>T (p.Gln173Ter) n.3168C>T	ClinVar dbSNP gnomAD v2
6	g.116617141A=	CA1657314904	RSPH4A	c.518A= (p.Gln173=) n.3169A=
6	g.116617141A>C	CA365394115	RSPH4A	c.518A>C (p.Gln173Pro) n.3169A>C
6	g.116617141A>G	CA365394118	RSPH4A	c.518A>G (p.Gln173Arg) n.3169A>G	dbSNP gnomAD v3 gnomAD v4
6	g.116617141A>T	CA365394121	RSPH4A	c.518A>T (p.Gln173Leu) n.3169A>T
6	g.116617142G>A	CA451904028	RSPH4A	c.519G>A (p.Gln173=) n.3170G>A
6	g.116617142G>C	CA365394126	RSPH4A	c.519G>C (p.Gln173His) n.3170G>C
6	g.116617142G>T	CA365394129	RSPH4A	c.519G>T (p.Gln173His) n.3170G>T
6	g.116617142_116617143delinsGA	CA1657314906	RSPH4A	c.519_520delinsGA (p.Gln173=) n.3170_3171delinsGA
6	g.116617143A=	CA1657314913	RSPH4A	c.520A= (p.Lys174=) n.3171A=
6	g.116617143A>C	CA365394137	RSPH4A	c.520A>C (p.Lys174Gln) n.3171A>C
6	g.116617143A>G	CA365394143	RSPH4A	c.520A>G (p.Lys174Glu) n.3171A>G	dbSNP gnomAD v3 gnomAD v4
6	g.116617143A>T	CA365394144	RSPH4A	c.520A>T (p.Lys174Ter) n.3171A>T
6	g.116617145dup	CA891842989	RSPH4A	c.522dup (p.Glu175ArgfsTer5) n.3173dup	ClinVar dbSNP
6	g.116617145del	CA570038166	RSPH4A	c.522del (p.Glu175SerfsTer2) n.3173del	dbSNP gnomAD v2 gnomAD v4
6	g.116617144A>C	CA365394149	RSPH4A	c.521A>C (p.Lys174Thr) n.3172A>C
6	g.116617144A>G	CA365394157	RSPH4A	c.521A>G (p.Lys174Arg) n.3172A>G
6	g.116617144A>T	CA365394154	RSPH4A	c.521A>T (p.Lys174Ile) n.3172A>T
6	g.116617144_116617146delinsAAG	CA1657314917	RSPH4A	c.521_523delinsAAG (p.Lys174=) n.3172_3174delinsAAG
6	g.116617145A>C	CA365394163	RSPH4A	c.522A>C (p.Lys174Asn) n.3173A>C
6	g.116617145A>G	CA451904030	RSPH4A	c.522A>G (p.Lys174=) n.3173A>G
6	g.116617145A>T	CA365394167	RSPH4A	c.522A>T (p.Lys174Asn) n.3173A>T
6	g.116617147_116617148del	CA3970779	RSPH4A	c.524_525del (p.Glu175AlafsTer4) n.3175_3176del	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617146G>A	CA365394182	RSPH4A	c.523G>A (p.Glu175Lys) n.3174G>A	gnomAD v4
6	g.116617146G>C	CA365394190	RSPH4A	c.523G>C (p.Glu175Gln) n.3174G>C
6	g.116617146G>T	CA365394192	RSPH4A	c.523G>T (p.Glu175Ter) n.3174G>T	COSMIC
6	g.116617147A>C	CA365394197	RSPH4A	c.524A>C (p.Glu175Ala) n.3175A>C
6	g.116617147A>G	CA365394205	RSPH4A	c.524A>G (p.Glu175Gly) n.3175A>G
6	g.116617147A>T	CA365394208	RSPH4A	c.524A>T (p.Glu175Val) n.3175A>T
6	g.116617148G>A	CA451904034	RSPH4A	c.525G>A (p.Glu175=) n.3176G>A
6	g.116617148G>C	CA365394212	RSPH4A	c.525G>C (p.Glu175Asp) n.3176G>C
6	g.116617148G>T	CA365394214	RSPH4A	c.525G>T (p.Glu175Asp) n.3176G>T
6	g.116617149C>A	CA365394219	RSPH4A	c.526C>A (p.Leu176Met) n.3177C>A
6	g.116617149C=	CA1657314918	RSPH4A	c.526C= (p.Leu176=) n.3177C=
6	g.116617149C>G	CA365394218	RSPH4A	c.526C>G (p.Leu176Val) n.3177C>G
6	g.116617149C>T	CA451904035	RSPH4A	c.526C>T (p.Leu176=) n.3177C>T	dbSNP gnomAD v4
6	g.116617150T>A	CA365394222	RSPH4A	c.527T>A (p.Leu176Gln) n.3178T>A
6	g.116617150T>C	CA365394231	RSPH4A	c.527T>C (p.Leu176Pro) n.3178T>C
6	g.116617150T>G	CA365394225	RSPH4A	c.527T>G (p.Leu176Arg) n.3178T>G
6	g.116617151G>A	CA451904037	RSPH4A	c.528G>A (p.Leu176=) n.3179G>A	COSMIC
6	g.116617151G>C	CA451904038	RSPH4A	c.528G>C (p.Leu176=) n.3179G>C
6	g.116617151G>T	CA451904036	RSPH4A	c.528G>T (p.Leu176=) n.3179G>T
6	g.116617152A>C	CA451904040	RSPH4A	c.529A>C (p.Arg177=) n.3180A>C
6	g.116617152A>G	CA365394242	RSPH4A	c.529A>G (p.Arg177Gly) n.3180A>G
6	g.116617152A>T	CA365394245	RSPH4A	c.529A>T (p.Arg177Ter) n.3180A>T
6	g.116617153G>A	CA365394249	RSPH4A	c.530G>A (p.Arg177Lys) n.3181G>A
6	g.116617153G>C	CA365394259	RSPH4A	c.530G>C (p.Arg177Thr) n.3181G>C
6	g.116617153G>T	CA365394253	RSPH4A	c.530G>T (p.Arg177Ile) n.3181G>T	COSMIC
6	g.116617154A=	CA1657314920	RSPH4A	c.531A= (p.Arg177=) n.3182A=
6	g.116617154A>C	CA365394270	RSPH4A	c.531A>C (p.Arg177Ser) n.3182A>C	gnomAD v4
6	g.116617154A>G	CA3970780	RSPH4A	c.531A>G (p.Arg177=) n.3182A>G	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617154A>T	CA365394273	RSPH4A	c.531A>T (p.Arg177Ser) n.3182A>T
6	g.116617155T>A	CA365394275	RSPH4A	c.532T>A (p.Phe178Ile) n.3183T>A
6	g.116617155T>C	CA365394278	RSPH4A	c.532T>C (p.Phe178Leu) n.3183T>C
6	g.116617155T>G	CA365394282	RSPH4A	c.532T>G (p.Phe178Val) n.3183T>G
6	g.116617156T>A	CA365394288	RSPH4A	c.533T>A (p.Phe178Tyr) n.3184T>A
6	g.116617156T>C	CA365394289	RSPH4A	c.533T>C (p.Phe178Ser) n.3184T>C	gnomAD v4
6	g.116617156T>G	CA365394291	RSPH4A	c.533T>G (p.Phe178Cys) n.3184T>G
6	g.116617157T>A	CA365394294	RSPH4A	c.534T>A (p.Phe178Leu) n.3185T>A
6	g.116617157T>C	CA451904044	RSPH4A	c.534T>C (p.Phe178=) n.3185T>C	gnomAD v4
6	g.116617157T>G	CA365394301	RSPH4A	c.534T>G (p.Phe178Leu) n.3185T>G
6	g.116617158G>A	CA365394308	RSPH4A	c.535G>A (p.Asp179Asn) n.3186G>A	COSMIC
6	g.116617158G>C	CA365394305	RSPH4A	c.535G>C (p.Asp179His) n.3186G>C
6	g.116617158G>T	CA365394307	RSPH4A	c.535G>T (p.Asp179Tyr) n.3186G>T	gnomAD v4
6	g.116617159A>C	CA365394313	RSPH4A	c.536A>C (p.Asp179Ala) n.3187A>C
6	g.116617159A>G	CA365394315	RSPH4A	c.536A>G (p.Asp179Gly) n.3187A>G
6	g.116617159A>T	CA365394320	RSPH4A	c.536A>T (p.Asp179Val) n.3187A>T
6	g.116617160C>A	CA365394324	RSPH4A	c.537C>A (p.Asp179Glu) n.3188C>A
6	g.116617160C=	CA1657314923	RSPH4A	c.537C= (p.Asp179=) n.3188C=
6	g.116617160C>G	CA365394325	RSPH4A	c.537C>G (p.Asp179Glu) n.3188C>G	gnomAD v4
6	g.116617160C>T	CA451904045	RSPH4A	c.537C>T (p.Asp179=) n.3188C>T	dbSNP
6	g.116617161G>A	CA365394326	RSPH4A	c.538G>A (p.Val180Ile) n.3189G>A
6	g.116617161G>C	CA365394329	RSPH4A	c.538G>C (p.Val180Leu) n.3189G>C
6	g.116617161G>T	CA365394332	RSPH4A	c.538G>T (p.Val180Phe) n.3189G>T
6	g.116617162T>A	CA365394333	RSPH4A	c.539T>A (p.Val180Asp) n.3190T>A
6	g.116617162T>C	CA365394334	RSPH4A	c.539T>C (p.Val180Ala) n.3190T>C
6	g.116617162T>G	CA365394335	RSPH4A	c.539T>G (p.Val180Gly) n.3190T>G
6	g.116617163T>A	CA451904048	RSPH4A	c.540T>A (p.Val180=) n.3191T>A
6	g.116617163T>C	CA3970781	RSPH4A	c.540T>C (p.Val180=) n.3191T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617163T>G	CA451904047	RSPH4A	c.540T>G (p.Val180=) n.3191T>G
6	g.116617163T=	CA1657314925	RSPH4A	c.540T= (p.Val180=) n.3191T=
6	g.116617164T>A	CA365394340	RSPH4A	c.541T>A (p.Phe181Ile) n.3192T>A
6	g.116617164T>C	CA365394338	RSPH4A	c.541T>C (p.Phe181Leu) n.3192T>C
6	g.116617164T>G	CA365394339	RSPH4A	c.541T>G (p.Phe181Val) n.3192T>G
6	g.116617165T>A	CA365394344	RSPH4A	c.542T>A (p.Phe181Tyr) n.3193T>A
6	g.116617165T>C	CA365394352	RSPH4A	c.542T>C (p.Phe181Ser) n.3193T>C
6	g.116617165T>G	CA365394355	RSPH4A	c.542T>G (p.Phe181Cys) n.3193T>G
6	g.116617166T>A	CA365394356	RSPH4A	c.543T>A (p.Phe181Leu) n.3194T>A
6	g.116617166T>C	CA451619496	RSPH4A	c.543T>C (p.Phe181=) n.3194T>C
6	g.116617166T>G	CA365394357	RSPH4A	c.543T>G (p.Phe181Leu) n.3194T>G
6	g.116617167C>A	CA365394358	RSPH4A	c.544C>A (p.Gln182Lys) n.3195C>A
6	g.116617167C>G	CA365394359	RSPH4A	c.544C>G (p.Gln182Glu) n.3195C>G
6	g.116617167C>T	CA365394363	RSPH4A	c.544C>T (p.Gln182Ter) n.3195C>T
6	g.116617168A=	CA1657314927	RSPH4A	c.545A= (p.Gln182=) n.3196A=
6	g.116617168A>C	CA365394365	RSPH4A	c.545A>C (p.Gln182Pro) n.3196A>C
6	g.116617168A>G	CA3970782	RSPH4A	c.545A>G (p.Gln182Arg) n.3196A>G	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6	g.116617168A>T	CA365394367	RSPH4A	c.545A>T (p.Gln182Leu) n.3196A>T
6	g.116617169G>A	CA3970783	RSPH4A	c.546G>A (p.Gln182=) n.3197G>A	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617169G>C	CA365394376	RSPH4A	c.546G>C (p.Gln182His) n.3197G>C
6	g.116617169G=	CA1657314929	RSPH4A	c.546G= (p.Gln182=) n.3197G=
6	g.116617169G>T	CA365394371	RSPH4A	c.546G>T (p.Gln182His) n.3197G>T
6	g.116617170G>A	CA365394382	RSPH4A	c.547G>A (p.Glu183Lys) n.3198G>A	gnomAD v4
6	g.116617170G>C	CA365394385	RSPH4A	c.547G>C (p.Glu183Gln) n.3198G>C
6	g.116617170G>T	CA365394388	RSPH4A	c.547G>T (p.Glu183Ter) n.3198G>T
6	g.116617171A>C	CA365394395	RSPH4A	c.548A>C (p.Glu183Ala) n.3199A>C
6	g.116617171A>G	CA365394397	RSPH4A	c.548A>G (p.Glu183Gly) n.3199A>G
6	g.116617171A>T	CA365394404	RSPH4A	c.548A>T (p.Glu183Val) n.3199A>T
6	g.116617172G>A	CA451619501	RSPH4A	c.549G>A (p.Glu183=) n.3200G>A
6	g.116617172G>C	CA365394407	RSPH4A	c.549G>C (p.Glu183Asp) n.3200G>C
6	g.116617172G>T	CA365394409	RSPH4A	c.549G>T (p.Glu183Asp) n.3200G>T
6	g.116617173G>A	CA3970784	RSPH4A	c.550G>A (p.Glu184Lys) n.3201G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617173G>C	CA365394415	RSPH4A	c.550G>C (p.Glu184Gln) n.3201G>C
6	g.116617173G=	CA1657314934	RSPH4A	c.550G= (p.Glu184=) n.3201G=
6	g.116617173G>T	CA365394419	RSPH4A	c.550G>T (p.Glu184Ter) n.3201G>T
6	g.116617174A=	CA1657314936	RSPH4A	c.551A= (p.Glu184=) n.3202A=
6	g.116617174A>C	CA365394438	RSPH4A	c.551A>C (p.Glu184Ala) n.3202A>C	dbSNP
6	g.116617174A>G	CA365394444	RSPH4A	c.551A>G (p.Glu184Gly) n.3202A>G
6	g.116617174A>T	CA365394433	RSPH4A	c.551A>T (p.Glu184Val) n.3202A>T
6	g.116617175A=	CA1657314937	RSPH4A	c.552A= (p.Glu184=) n.3203A=
6	g.116617175A>C	CA365394456	RSPH4A	c.552A>C (p.Glu184Asp) n.3203A>C
6	g.116617175A>G	CA451619505	RSPH4A	c.552A>G (p.Glu184=) n.3203A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617175A>T	CA365394452	RSPH4A	c.552A>T (p.Glu184Asp) n.3203A>T
6	g.116617176G>A	CA365394458	RSPH4A	c.553G>A (p.Asp185Asn) n.3204G>A	gnomAD v4
6	g.116617176G>C	CA365394459	RSPH4A	c.553G>C (p.Asp185His) n.3204G>C
6	g.116617176G>T	CA365394460	RSPH4A	c.553G>T (p.Asp185Tyr) n.3204G>T
6	g.116617177A=	CA1657314938	RSPH4A	c.554A= (p.Asp185=) n.3205A=
6	g.116617177A>C	CA365394464	RSPH4A	c.554A>C (p.Asp185Ala) n.3205A>C
6	g.116617177A>G	CA365394468	RSPH4A	c.554A>G (p.Asp185Gly) n.3205A>G	dbSNP gnomAD v3 gnomAD v4
6	g.116617177A>T	CA365394474	RSPH4A	c.554A>T (p.Asp185Val) n.3205A>T
6	g.116617178C>A	CA365394477	RSPH4A	c.555C>A (p.Asp185Glu) n.3206C>A
6	g.116617178C>G	CA365394486	RSPH4A	c.555C>G (p.Asp185Glu) n.3206C>G	gnomAD v4
6	g.116617178C>T	CA451619508	RSPH4A	c.555C>T (p.Asp185=) n.3206C>T
6	g.116617179T>A	CA365394489	RSPH4A	c.556T>A (p.Ser186Thr) n.3207T>A
6	g.116617179T>C	CA365394490	RSPH4A	c.556T>C (p.Ser186Pro) n.3207T>C
6	g.116617179T>G	CA365394491	RSPH4A	c.556T>G (p.Ser186Ala) n.3207T>G
6	g.116617180C>A	CA365394499	RSPH4A	c.557C>A (p.Ser186Ter) n.3208C>A
6	g.116617180C>G	CA365394502	RSPH4A	c.557C>G (p.Ser186Ter) n.3208C>G	COSMIC
6	g.116617180C>T	CA365394497	RSPH4A	c.557C>T (p.Ser186Leu) n.3208C>T
6	g.116617182_116617185del	CA2603208262	RSPH4A	c.559_562del (p.Asn187ValfsTer?) n.3210_3213del	gnomAD v3 gnomAD v4
6	g.116617181A>C	CA451619511	RSPH4A	c.558A>C (p.Ser186=) n.3209A>C
6	g.116617181A>G	CA451619512	RSPH4A	c.558A>G (p.Ser186=) n.3209A>G
6	g.116617181A>T	CA451619513	RSPH4A	c.558A>T (p.Ser186=) n.3209A>T
6	g.116617182A>C	CA365394514	RSPH4A	c.559A>C (p.Asn187His) n.3210A>C
6	g.116617182A>G	CA365394522	RSPH4A	c.559A>G (p.Asn187Asp) n.3210A>G
6	g.116617182A>T	CA365394526	RSPH4A	c.559A>T (p.Asn187Tyr) n.3210A>T
6	g.116617183A=	CA1657314939	RSPH4A	c.560A= (p.Asn187=) n.3211A=
6	g.116617183A>C	CA365394531	RSPH4A	c.560A>C (p.Asn187Thr) n.3211A>C
6	g.116617183A>G	CA365394535	RSPH4A	c.560A>G (p.Asn187Ser) n.3211A>G	dbSNP
6	g.116617183A>T	CA3970785	RSPH4A	c.560A>T (p.Asn187Ile) n.3211A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched