Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.116616983T>A	CA451903866	RSPH4A	c.360T>A (p.Ala120=) n.3011T>A
6	g.116616983T>C	CA451903869	RSPH4A	c.360T>C (p.Ala120=) n.3011T>C
6	g.116616983T>G	CA451903868	RSPH4A	c.360T>G (p.Ala120=) n.3011T>G
6	g.116616984G>A	CA365392254	RSPH4A	c.361G>A (p.Gly121Arg) n.3012G>A	dbSNP gnomAD v3 gnomAD v4
6	g.116616984G>C	CA365392260	RSPH4A	c.361G>C (p.Gly121Arg) n.3012G>C
6	g.116616984G=	CA1657314621	RSPH4A	c.361G= (p.Gly121=) n.3012G=
6	g.116616984G>T	CA365392266	RSPH4A	c.361G>T (p.Gly121Trp) n.3012G>T
6	g.116616985G>A	CA365392270	RSPH4A	c.362G>A (p.Gly121Glu) n.3013G>A
6	g.116616985G>C	CA365392271	RSPH4A	c.362G>C (p.Gly121Ala) n.3013G>C
6	g.116616985G>T	CA365392272	RSPH4A	c.362G>T (p.Gly121Val) n.3013G>T
6	g.116616986G>A	CA451903872	RSPH4A	c.363G>A (p.Gly121=) n.3014G>A
6	g.116616986G>C	CA451903875	RSPH4A	c.363G>C (p.Gly121=) n.3014G>C
6	g.116616986G>T	CA451903874	RSPH4A	c.363G>T (p.Gly121=) n.3014G>T
6	g.116616987A>C	CA365392274	RSPH4A	c.364A>C (p.Thr122Pro) n.3015A>C
6	g.116616987A>G	CA365392277	RSPH4A	c.364A>G (p.Thr122Ala) n.3015A>G
6	g.116616987A>T	CA365392284	RSPH4A	c.364A>T (p.Thr122Ser) n.3015A>T
6	g.116616988C>A	CA365392287	RSPH4A	c.365C>A (p.Thr122Lys) n.3016C>A
6	g.116616988C=	CA1657314623	RSPH4A	c.365C= (p.Thr122=) n.3016C=
6	g.116616988C>G	CA365392291	RSPH4A	c.365C>G (p.Thr122Arg) n.3016C>G
6	g.116616988C>T	CA365392294	RSPH4A	c.365C>T (p.Thr122Ile) n.3016C>T	dbSNP
6	g.116616989A>C	CA451903878	RSPH4A	c.366A>C (p.Thr122=) n.3017A>C
6	g.116616989A>G	CA451903880	RSPH4A	c.366A>G (p.Thr122=) n.3017A>G
6	g.116616989A>T	CA451903881	RSPH4A	c.366A>T (p.Thr122=) n.3017A>T
6	g.116616990C>A	CA365392304	RSPH4A	c.367C>A (p.Pro123Thr) n.3018C>A
6	g.116616990C>G	CA365392300	RSPH4A	c.367C>G (p.Pro123Ala) n.3018C>G
6	g.116616990C>T	CA365392302	RSPH4A	c.367C>T (p.Pro123Ser) n.3018C>T	COSMIC
6	g.116616991C>A	CA365392310	RSPH4A	c.368C>A (p.Pro123His) n.3019C>A
6	g.116616991C>G	CA365392313	RSPH4A	c.368C>G (p.Pro123Arg) n.3019C>G
6	g.116616991C>T	CA365392319	RSPH4A	c.368C>T (p.Pro123Leu) n.3019C>T	gnomAD v4
6	g.116616992T>A	CA451903883	RSPH4A	c.369T>A (p.Pro123=) n.3020T>A
6	g.116616992T>C	CA451903884	RSPH4A	c.369T>C (p.Pro123=) n.3020T>C
6	g.116616992T>G	CA451903886	RSPH4A	c.369T>G (p.Pro123=) n.3020T>G
6	g.116616993T>A	CA365392328	RSPH4A	c.370T>A (p.Tyr124Asn) n.3021T>A
6	g.116616993T>C	CA365392332	RSPH4A	c.370T>C (p.Tyr124His) n.3021T>C
6	g.116616993T>G	CA145923799	RSPH4A	c.370T>G (p.Tyr124Asp) n.3021T>G	dbSNP
6	g.116616993T=	CA1657314626	RSPH4A	c.370T= (p.Tyr124=) n.3021T=
6	g.116616994A>C	CA365392343	RSPH4A	c.371A>C (p.Tyr124Ser) n.3022A>C
6	g.116616994A>G	CA365392345	RSPH4A	c.371A>G (p.Tyr124Cys) n.3022A>G	gnomAD v4
6	g.116616994A>T	CA365392348	RSPH4A	c.371A>T (p.Tyr124Phe) n.3022A>T	gnomAD v4
6	g.116616995T>A	CA365392351	RSPH4A	c.372T>A (p.Tyr124Ter) n.3023T>A
6	g.116616995T>C	CA451903890	RSPH4A	c.372T>C (p.Tyr124=) n.3023T>C
6	g.116616995T>G	CA365392358	RSPH4A	c.372T>G (p.Tyr124Ter) n.3023T>G
6	g.116616995_116616996delinsTC	CA1657314630	RSPH4A	c.372_373delinsTC (p.Tyr124=) n.3023_3024delinsTC
6	g.116616996C>A	CA365392371	RSPH4A	c.373C>A (p.Pro125Thr) n.3024C>A
6	g.116616996C>G	CA365392382	RSPH4A	c.373C>G (p.Pro125Ala) n.3024C>G
6	g.116616996C>T	CA365392365	RSPH4A	c.373C>T (p.Pro125Ser) n.3024C>T	COSMIC
6	g.116616997dup	CA3970748	RSPH4A	c.374dup (p.Asp126Ter) n.3025dup	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616997del	CA570038162	RSPH4A	c.374del (p.Pro125LeufsTer?) n.3025del	dbSNP gnomAD v2 gnomAD v4
6	g.116616997C>A	CA365392397	RSPH4A	c.374C>A (p.Pro125His) n.3025C>A
6	g.116616997C>G	CA365392390	RSPH4A	c.374C>G (p.Pro125Arg) n.3025C>G
6	g.116616997C>T	CA365392400	RSPH4A	c.374C>T (p.Pro125Leu) n.3025C>T
6	g.116616998T>A	CA451903891	RSPH4A	c.375T>A (p.Pro125=) n.3026T>A
6	g.116616998T>C	CA451903892	RSPH4A	c.375T>C (p.Pro125=) n.3026T>C	ClinVar
6	g.116616998T>G	CA451903893	RSPH4A	c.375T>G (p.Pro125=) n.3026T>G
6	g.116616999del	CA2680117676	RSPH4A	c.376del (p.Asp126IlefsTer?) n.3027del	gnomAD v4
6	g.116616999G>A	CA365392413	RSPH4A	c.376G>A (p.Asp126Asn) n.3027G>A
6	g.116616999G>C	CA365392419	RSPH4A	c.376G>C (p.Asp126His) n.3027G>C
6	g.116616999G>T	CA365392443	RSPH4A	c.376G>T (p.Asp126Tyr) n.3027G>T
6	g.116617000A>C	CA365392449	RSPH4A	c.377A>C (p.Asp126Ala) n.3028A>C
6	g.116617000A>G	CA365392457	RSPH4A	c.377A>G (p.Asp126Gly) n.3028A>G
6	g.116617000A>T	CA365392461	RSPH4A	c.377A>T (p.Asp126Val) n.3028A>T
6	g.116617001T>A	CA365392478	RSPH4A	c.378T>A (p.Asp126Glu) n.3029T>A
6	g.116617001T>C	CA451903894	RSPH4A	c.378T>C (p.Asp126=) n.3029T>C	dbSNP gnomAD v4
6	g.116617001T>G	CA365392507	RSPH4A	c.378T>G (p.Asp126Glu) n.3029T>G
6	g.116617001T=	CA1657314639	RSPH4A	c.378T= (p.Asp126=) n.3029T=
6	g.116617002C>A	CA365392511	RSPH4A	c.379C>A (p.Pro127Thr) n.3030C>A	gnomAD v4
6	g.116617002C=	CA1657314642	RSPH4A	c.379C= (p.Pro127=) n.3030C=
6	g.116617002C>G	CA365392513	RSPH4A	c.379C>G (p.Pro127Ala) n.3030C>G
6	g.116617002C>T	CA365392516	RSPH4A	c.379C>T (p.Pro127Ser) n.3030C>T	dbSNP gnomAD v2 gnomAD v4
6	g.116617003C>A	CA365392534	RSPH4A	c.380C>A (p.Pro127His) n.3031C>A
6	g.116617003C=	CA1657314644	RSPH4A	c.380C= (p.Pro127=) n.3031C=
6	g.116617003C>G	CA365392524	RSPH4A	c.380C>G (p.Pro127Arg) n.3031C>G
6	g.116617003C>T	CA365392520	RSPH4A	c.380C>T (p.Pro127Leu) n.3031C>T	dbSNP gnomAD v3 gnomAD v4
6	g.116617004T>A	CA451903898	RSPH4A	c.381T>A (p.Pro127=) n.3032T>A
6	g.116617004T>C	CA451903899	RSPH4A	c.381T>C (p.Pro127=) n.3032T>C
6	g.116617004T>G	CA451903900	RSPH4A	c.381T>G (p.Pro127=) n.3032T>G
6	g.116617005T>A	CA365392540	RSPH4A	c.382T>A (p.Leu128Met) n.3033T>A
6	g.116617005T>C	CA451903901	RSPH4A	c.382T>C (p.Leu128=) n.3033T>C
6	g.116617005T>G	CA365392541	RSPH4A	c.382T>G (p.Leu128Val) n.3033T>G
6	g.116617006T>A	CA365392545	RSPH4A	c.383T>A (p.Leu128Ter) n.3034T>A
6	g.116617006T>C	CA365392554	RSPH4A	c.383T>C (p.Leu128Ser) n.3034T>C	dbSNP gnomAD v4
6	g.116617006T>G	CA365392556	RSPH4A	c.383T>G (p.Leu128Trp) n.3034T>G
6	g.116617006T=	CA1657314648	RSPH4A	c.383T= (p.Leu128=) n.3034T=
6	g.116617007G>A	CA451903904	RSPH4A	c.384G>A (p.Leu128=) n.3035G>A
6	g.116617007G>C	CA365392559	RSPH4A	c.384G>C (p.Leu128Phe) n.3035G>C
6	g.116617007G>T	CA365392561	RSPH4A	c.384G>T (p.Leu128Phe) n.3035G>T
6	g.116617008G>A	CA365392565	RSPH4A	c.385G>A (p.Glu129Lys) n.3036G>A	dbSNP
6	g.116617008G>C	CA365392566	RSPH4A	c.385G>C (p.Glu129Gln) n.3036G>C
6	g.116617008G>T	CA365392567	RSPH4A	c.385G>T (p.Glu129Ter) n.3036G>T
6	g.116617009A>C	CA365392569	RSPH4A	c.386A>C (p.Glu129Ala) n.3037A>C
6	g.116617009A>G	CA365392571	RSPH4A	c.386A>G (p.Glu129Gly) n.3037A>G
6	g.116617009A>T	CA365392593	RSPH4A	c.386A>T (p.Glu129Val) n.3037A>T
6	g.116617010A=	CA1657314653	RSPH4A	c.387A= (p.Glu129=) n.3038A=
6	g.116617010A>C	CA365392597	RSPH4A	c.387A>C (p.Glu129Asp) n.3038A>C
6	g.116617010A>G	CA451903906	RSPH4A	c.387A>G (p.Glu129=) n.3038A>G
6	g.116617010A>T	CA3970749	RSPH4A	c.387A>T (p.Glu129Asp) n.3038A>T	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617011C>A	CA365392603	RSPH4A	c.388C>A (p.Gln130Lys) n.3039C>A
6	g.116617011C>G	CA365392614	RSPH4A	c.388C>G (p.Gln130Glu) n.3039C>G
6	g.116617011C>T	CA365392617	RSPH4A	c.388C>T (p.Gln130Ter) n.3039C>T	gnomAD v4
6	g.116617012A>C	CA365392626	RSPH4A	c.389A>C (p.Gln130Pro) n.3040A>C
6	g.116617012A>G	CA365392627	RSPH4A	c.389A>G (p.Gln130Arg) n.3040A>G	ClinVar
6	g.116617012A>T	CA365392628	RSPH4A	c.389A>T (p.Gln130Leu) n.3040A>T
6	g.116617013A>C	CA365392631	RSPH4A	c.390A>C (p.Gln130His) n.3041A>C
6	g.116617013A>G	CA451903908	RSPH4A	c.390A>G (p.Gln130=) n.3041A>G
6	g.116617013A>T	CA365392638	RSPH4A	c.390A>T (p.Gln130His) n.3041A>T
6	g.116617014T>A	CA365392663	RSPH4A	c.391T>A (p.Ser131Thr) n.3042T>A
6	g.116617014T>C	CA365392671	RSPH4A	c.391T>C (p.Ser131Pro) n.3042T>C
6	g.116617014T>G	CA365392676	RSPH4A	c.391T>G (p.Ser131Ala) n.3042T>G
6	g.116617015C>A	CA365392680	RSPH4A	c.392C>A (p.Ser131Ter) n.3043C>A
6	g.116617015C>G	CA365392681	RSPH4A	c.392C>G (p.Ser131Ter) n.3043C>G
6	g.116617015C>T	CA365392682	RSPH4A	c.392C>T (p.Ser131Leu) n.3043C>T	gnomAD v4
6	g.116617016A=	CA1657314657	RSPH4A	c.393A= (p.Ser131=) n.3044A=
6	g.116617016A>C	CA451903909	RSPH4A	c.393A>C (p.Ser131=) n.3044A>C
6	g.116617016A>G	CA3970750	RSPH4A	c.393A>G (p.Ser131=) n.3044A>G	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617016A>T	CA451903910	RSPH4A	c.393A>T (p.Ser131=) n.3044A>T	dbSNP gnomAD v3 gnomAD v4
6	g.116617017T>A	CA3970751	RSPH4A	c.394T>A (p.Ser132Thr) n.3045T>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617017T>C	CA145923809	RSPH4A	c.394T>C (p.Ser132Pro) n.3045T>C	dbSNP
6	g.116617017T>G	CA365392698	RSPH4A	c.394T>G (p.Ser132Ala) n.3045T>G
6	g.116617017T=	CA1657314663	RSPH4A	c.394T= (p.Ser132=) n.3045T=
6	g.116617018C>A	CA3970752	RSPH4A	c.395C>A (p.Ser132Tyr) n.3046C>A	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617018C=	CA1657314665	RSPH4A	c.395C= (p.Ser132=) n.3046C=
6	g.116617018C>G	CA365392712	RSPH4A	c.395C>G (p.Ser132Cys) n.3046C>G
6	g.116617018C>T	CA365392724	RSPH4A	c.395C>T (p.Ser132Phe) n.3046C>T	dbSNP
6	g.116617019T>A	CA451903912	RSPH4A	c.396T>A (p.Ser132=) n.3047T>A
6	g.116617019T>C	CA3970753	RSPH4A	c.396T>C (p.Ser132=) n.3047T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617019T>G	CA451903913	RSPH4A	c.396T>G (p.Ser132=) n.3047T>G
6	g.116617019T=	CA1657314668	RSPH4A	c.396T= (p.Ser132=) n.3047T=
6	g.116617020G>A	CA145923816	RSPH4A	c.397G>A (p.Asp133Asn) n.3048G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617020G>C	CA365392740	RSPH4A	c.397G>C (p.Asp133His) n.3048G>C
6	g.116617020G=	CA1657314672	RSPH4A	c.397G= (p.Asp133=) n.3048G=
6	g.116617020G>T	CA365392741	RSPH4A	c.397G>T (p.Asp133Tyr) n.3048G>T
6	g.116617021A=	CA1657314677	RSPH4A	c.398A= (p.Asp133=) n.3049A=
6	g.116617021A>C	CA365392746	RSPH4A	c.398A>C (p.Asp133Ala) n.3049A>C
6	g.116617021A>G	CA365392755	RSPH4A	c.398A>G (p.Asp133Gly) n.3049A>G
6	g.116617021A>T	CA365392764	RSPH4A	c.398A>T (p.Asp133Val) n.3049A>T	dbSNP gnomAD v2 gnomAD v4
6	g.116617022T>A	CA365392776	RSPH4A	c.399T>A (p.Asp133Glu) n.3050T>A
6	g.116617022T>C	CA451903915	RSPH4A	c.399T>C (p.Asp133=) n.3050T>C	dbSNP
6	g.116617022T>G	CA365392774	RSPH4A	c.399T>G (p.Asp133Glu) n.3050T>G
6	g.116617022T=	CA1657314681	RSPH4A	c.399T= (p.Asp133=) n.3050T=
6	g.116617023A=	CA1657314683	RSPH4A	c.400A= (p.Lys134=) n.3051A=
6	g.116617023A>C	CA365392780	RSPH4A	c.400A>C (p.Lys134Gln) n.3051A>C
6	g.116617023A>G	CA365392795	RSPH4A	c.400A>G (p.Lys134Glu) n.3051A>G	dbSNP gnomAD v2 gnomAD v4
6	g.116617023A>T	CA365392785	RSPH4A	c.400A>T (p.Lys134Ter) n.3051A>T
6	g.116617025_116617026del	CA2772740994	RSPH4A	c.402_403del (p.Glu136IlefsTer?) n.3053_3054del
6	g.116617024A>C	CA365392815	RSPH4A	c.401A>C (p.Lys134Thr) n.3052A>C	gnomAD v4
6	g.116617024A>G	CA365392817	RSPH4A	c.401A>G (p.Lys134Arg) n.3052A>G
6	g.116617024A>T	CA365392820	RSPH4A	c.401A>T (p.Lys134Ile) n.3052A>T
6	g.116617025A>C	CA365392825	RSPH4A	c.402A>C (p.Lys134Asn) n.3053A>C
6	g.116617025A>G	CA451903916	RSPH4A	c.402A>G (p.Lys134=) n.3053A>G
6	g.116617025A>T	CA365392830	RSPH4A	c.402A>T (p.Lys134Asn) n.3053A>T
6	g.116617026A=	CA1657314685	RSPH4A	c.403A= (p.Arg135=) n.3054A=
6	g.116617026A>C	CA451903918	RSPH4A	c.403A>C (p.Arg135=) n.3054A>C
6	g.116617026A>G	CA365392834	RSPH4A	c.403A>G (p.Arg135Gly) n.3054A>G	dbSNP gnomAD v2 gnomAD v4
6	g.116617026A>T	CA365392841	RSPH4A	c.403A>T (p.Arg135Ter) n.3054A>T
6	g.116617027G>A	CA365392848	RSPH4A	c.404G>A (p.Arg135Lys) n.3055G>A
6	g.116617027G>C	CA365392861	RSPH4A	c.404G>C (p.Arg135Thr) n.3055G>C
6	g.116617027G>T	CA365392867	RSPH4A	c.404G>T (p.Arg135Ile) n.3055G>T
6	g.116617028A>C	CA365392870	RSPH4A	c.405A>C (p.Arg135Ser) n.3056A>C
6	g.116617028A>G	CA451903919	RSPH4A	c.405A>G (p.Arg135=) n.3056A>G
6	g.116617028A>T	CA365392881	RSPH4A	c.405A>T (p.Arg135Ser) n.3056A>T
6	g.116617029G>A	CA365392888	RSPH4A	c.406G>A (p.Glu136Lys) n.3057G>A	dbSNP
6	g.116617029G>C	CA365392886	RSPH4A	c.406G>C (p.Glu136Gln) n.3057G>C
6	g.116617029G=	CA1657314687	RSPH4A	c.406G= (p.Glu136=) n.3057G=
6	g.116617029G>T	CA365392887	RSPH4A	c.406G>T (p.Glu136Ter) n.3057G>T	COSMIC
6	g.116617030A>C	CA365392889	RSPH4A	c.407A>C (p.Glu136Ala) n.3058A>C
6	g.116617030A>G	CA365392897	RSPH4A	c.407A>G (p.Glu136Gly) n.3058A>G
6	g.116617030A>T	CA365392898	RSPH4A	c.407A>T (p.Glu136Val) n.3058A>T
6	g.116617031A>C	CA365392899	RSPH4A	c.408A>C (p.Glu136Asp) n.3059A>C
6	g.116617031A>G	CA451903921	RSPH4A	c.408A>G (p.Glu136=) n.3059A>G	COSMIC
6	g.116617031A>T	CA365392900	RSPH4A	c.408A>T (p.Glu136Asp) n.3059A>T	gnomAD v4
6	g.116617032T>A	CA365392904	RSPH4A	c.409T>A (p.Ser137Thr) n.3060T>A
6	g.116617032T>C	CA365392913	RSPH4A	c.409T>C (p.Ser137Pro) n.3060T>C
6	g.116617032T>G	CA365392917	RSPH4A	c.409T>G (p.Ser137Ala) n.3060T>G
6	g.116617033C>A	CA365392922	RSPH4A	c.410C>A (p.Ser137Ter) n.3061C>A
6	g.116617033C>G	CA365392929	RSPH4A	c.410C>G (p.Ser137Ter) n.3061C>G	gnomAD v4
6	g.116617033C>T	CA365392931	RSPH4A	c.410C>T (p.Ser137Leu) n.3061C>T
6	g.116617034A>C	CA451903922	RSPH4A	c.411A>C (p.Ser137=) n.3062A>C
6	g.116617034A>G	CA451903923	RSPH4A	c.411A>G (p.Ser137=) n.3062A>G
6	g.116617034A>T	CA451903924	RSPH4A	c.411A>T (p.Ser137=) n.3062A>T
6	g.116617035A=	CA1657314689	RSPH4A	c.412A= (p.Thr138=) n.3063A=
6	g.116617035A>C	CA365392942	RSPH4A	c.412A>C (p.Thr138Pro) n.3063A>C	dbSNP
6	g.116617035A>G	CA365392937	RSPH4A	c.412A>G (p.Thr138Ala) n.3063A>G	gnomAD v4
6	g.116617035A>T	CA3970754	RSPH4A	c.412A>T (p.Thr138Ser) n.3063A>T	dbSNP ExAC
6	g.116617036C>A	CA3970755	RSPH4A	c.413C>A (p.Thr138Asn) n.3064C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617036C=	CA1657314694	RSPH4A	c.413C= (p.Thr138=) n.3064C=
6	g.116617036C>G	CA365392956	RSPH4A	c.413C>G (p.Thr138Ser) n.3064C>G	gnomAD v4
6	g.116617036C>T	CA365392968	RSPH4A	c.413C>T (p.Thr138Ile) n.3064C>T
6	g.116617039_116617041del	CA2680117677	RSPH4A	c.416_418del (p.Pro139del) n.3067_3069del	gnomAD v4
6	g.116617037T>A	CA451903929	RSPH4A	c.414T>A (p.Thr138=) n.3065T>A	gnomAD v4
6	g.116617037T>C	CA451903930	RSPH4A	c.414T>C (p.Thr138=) n.3065T>C	dbSNP
6	g.116617037T>G	CA451903928	RSPH4A	c.414T>G (p.Thr138=) n.3065T>G
6	g.116617037T=	CA1657314698	RSPH4A	c.414T= (p.Thr138=) n.3065T=
6	g.116617038C>A	CA365392976	RSPH4A	c.415C>A (p.Pro139Thr) n.3066C>A
6	g.116617038C>G	CA365392980	RSPH4A	c.415C>G (p.Pro139Ala) n.3066C>G
6	g.116617038C>T	CA365392982	RSPH4A	c.415C>T (p.Pro139Ser) n.3066C>T
6	g.116617039C>A	CA365392990	RSPH4A	c.416C>A (p.Pro139His) n.3067C>A
6	g.116617039C>G	CA365392996	RSPH4A	c.416C>G (p.Pro139Arg) n.3067C>G
6	g.116617039C>T	CA365392998	RSPH4A	c.416C>T (p.Pro139Leu) n.3067C>T	gnomAD v4
6	g.116617039_116617040insAAACACAC	CA2772740998	RSPH4A	c.416_417insAAACACAC (p.His140AsnfsTer30) n.3067_3068insAAACACAC
6	g.116617040T>A	CA451903931	RSPH4A	c.417T>A (p.Pro139=) n.3068T>A	gnomAD v4
6	g.116617040T>C	CA3970756	RSPH4A	c.417T>C (p.Pro139=) n.3068T>C	dbSNP ExAC
6	g.116617040T>G	CA451903933	RSPH4A	c.417T>G (p.Pro139=) n.3068T>G
6	g.116617040T=	CA1657314700	RSPH4A	c.417T= (p.Pro139=) n.3068T=
6	g.116617041C>A	CA3970757	RSPH4A	c.418C>A (p.His140Asn) n.3069C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617041C=	CA1657314703	RSPH4A	c.418C= (p.His140=) n.3069C=
6	g.116617041C>G	CA365393006	RSPH4A	c.418C>G (p.His140Asp) n.3069C>G
6	g.116617041C>T	CA365393008	RSPH4A	c.418C>T (p.His140Tyr) n.3069C>T	gnomAD v4
6	g.116617042A=	CA1657314705	RSPH4A	c.419A= (p.His140=) n.3070A=
6	g.116617042A>C	CA365393023	RSPH4A	c.419A>C (p.His140Pro) n.3070A>C
6	g.116617042A>G	CA365393011	RSPH4A	c.419A>G (p.His140Arg) n.3070A>G
6	g.116617042A>T	CA365393019	RSPH4A	c.419A>T (p.His140Leu) n.3070A>T
6	g.116617043T>A	CA365393029	RSPH4A	c.420T>A (p.His140Gln) n.3071T>A
6	g.116617043T>C	CA451903936	RSPH4A	c.420T>C (p.His140=) n.3071T>C	dbSNP
6	g.116617043T>G	CA365393030	RSPH4A	c.420T>G (p.His140Gln) n.3071T>G
6	g.116617043T=	CA1657314712	RSPH4A	c.420T= (p.His140=) n.3071T=
6	g.116617043_116617044dup	CA3970758	RSPH4A	c.420_421dup (p.His141LeufsTer27) n.3071_3072dup	dbSNP ExAC
6	g.116617044C>A	CA365393034	RSPH4A	c.421C>A (p.His141Asn) n.3072C>A
6	g.116617044C>G	CA365393038	RSPH4A	c.421C>G (p.His141Asp) n.3072C>G
6	g.116617044C>T	CA365393042	RSPH4A	c.421C>T (p.His141Tyr) n.3072C>T
6	g.116617048_116617049del	CA2680117678	RSPH4A	c.425_426del (p.Thr142LysfsTer27) n.3076_3077del	gnomAD v4
6	g.116617045A>C	CA365393055	RSPH4A	c.422A>C (p.His141Pro) n.3073A>C
6	g.116617045A>G	CA365393059	RSPH4A	c.422A>G (p.His141Arg) n.3073A>G
6	g.116617045A>T	CA365393069	RSPH4A	c.422A>T (p.His141Leu) n.3073A>T
6	g.116617046C>A	CA365393073	RSPH4A	c.423C>A (p.His141Gln) n.3074C>A
6	g.116617046C=	CA1657314716	RSPH4A	c.423C= (p.His141=) n.3074C=
6	g.116617046C>G	CA365393091	RSPH4A	c.423C>G (p.His141Gln) n.3074C>G
6	g.116617046C>T	CA145923827	RSPH4A	c.423C>T (p.His141=) n.3074C>T	dbSNP gnomAD v4
6	g.116617047A>C	CA365393103	RSPH4A	c.424A>C (p.Thr142Pro) n.3075A>C
6	g.116617047A>G	CA365393117	RSPH4A	c.424A>G (p.Thr142Ala) n.3075A>G
6	g.116617047A>T	CA365393116	RSPH4A	c.424A>T (p.Thr142Ser) n.3075A>T
6	g.116617048C>A	CA3970759	RSPH4A	c.425C>A (p.Thr142Lys) n.3076C>A	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617048C=	CA1657314718	RSPH4A	c.425C= (p.Thr142=) n.3076C=
6	g.116617048C>G	CA365393124	RSPH4A	c.425C>G (p.Thr142Arg) n.3076C>G
6	g.116617048C>T	CA365393120	RSPH4A	c.425C>T (p.Thr142Ile) n.3076C>T
6	g.116617049A=	CA1657314722	RSPH4A	c.426A= (p.Thr142=) n.3077A=
6	g.116617049A>C	CA451903940	RSPH4A	c.426A>C (p.Thr142=) n.3077A>C
6	g.116617049A>G	CA451903941	RSPH4A	c.426A>G (p.Thr142=) n.3077A>G
6	g.116617049A>T	CA451903942	RSPH4A	c.426A>T (p.Thr142=) n.3077A>T	dbSNP gnomAD v3 gnomAD v4
6	g.116617049_116617050insCAGTAAA	CA3970760	RSPH4A	c.426_427insCAGTAAA (p.Ser143GlnfsTer2) n.3077_3078insCAGTAAA	dbSNP ExAC
6	g.116617050A>C	CA365393137	RSPH4A	c.427A>C (p.Ser143Arg) n.3078A>C
6	g.116617050A>G	CA365393133	RSPH4A	c.427A>G (p.Ser143Gly) n.3078A>G
6	g.116617050A>T	CA365393141	RSPH4A	c.427A>T (p.Ser143Cys) n.3078A>T
6	g.116617051G>A	CA3970761	RSPH4A	c.428G>A (p.Ser143Asn) n.3079G>A	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617051G>C	CA365393146	RSPH4A	c.428G>C (p.Ser143Thr) n.3079G>C
6	g.116617051G=	CA1657314731	RSPH4A	c.428G= (p.Ser143=) n.3079G=
6	g.116617051G>T	CA365393143	RSPH4A	c.428G>T (p.Ser143Ile) n.3079G>T
6	g.116617052C>A	CA365393151	RSPH4A	c.429C>A (p.Ser143Arg) n.3080C>A
6	g.116617052C=	CA1657314734	RSPH4A	c.429C= (p.Ser143=) n.3080C=
6	g.116617052C>G	CA3970762	RSPH4A	c.429C>G (p.Ser143Arg) n.3080C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617052C>T	CA145923834	RSPH4A	c.429C>T (p.Ser143=) n.3080C>T	dbSNP
6	g.116617053C>A	CA365393156	RSPH4A	c.430C>A (p.Gln144Lys) n.3081C>A
6	g.116617053C=	CA1657314740	RSPH4A	c.430C= (p.Gln144=) n.3081C=
6	g.116617053C>G	CA365393161	RSPH4A	c.430C>G (p.Gln144Glu) n.3081C>G
6	g.116617053C>T	CA3970763	RSPH4A	c.430C>T (p.Gln144Ter) n.3081C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617054A>C	CA365393167	RSPH4A	c.431A>C (p.Gln144Pro) n.3082A>C
6	g.116617054A>G	CA365393179	RSPH4A	c.431A>G (p.Gln144Arg) n.3082A>G
6	g.116617054A>T	CA365393184	RSPH4A	c.431A>T (p.Gln144Leu) n.3082A>T
6	g.116617055G>A	CA451903948	RSPH4A	c.432G>A (p.Gln144=) n.3083G>A	dbSNP gnomAD v2 gnomAD v4
6	g.116617055G>C	CA365393189	RSPH4A	c.432G>C (p.Gln144His) n.3083G>C
6	g.116617055G=	CA1657314744	RSPH4A	c.432G= (p.Gln144=) n.3083G=
6	g.116617055G>T	CA365393194	RSPH4A	c.432G>T (p.Gln144His) n.3083G>T
6	g.116617056T>A	CA365393216	RSPH4A	c.433T>A (p.Ser145Thr) n.3084T>A
6	g.116617056T>C	CA365393214	RSPH4A	c.433T>C (p.Ser145Pro) n.3084T>C
6	g.116617056T>G	CA365393212	RSPH4A	c.433T>G (p.Ser145Ala) n.3084T>G
6	g.116617057C>A	CA365393219	RSPH4A	c.434C>A (p.Ser145Ter) n.3085C>A
6	g.116617057C>G	CA365393223	RSPH4A	c.434C>G (p.Ser145Ter) n.3085C>G
6	g.116617057C>T	CA365393227	RSPH4A	c.434C>T (p.Ser145Leu) n.3085C>T	COSMIC
6	g.116617058A>C	CA451903949	RSPH4A	c.435A>C (p.Ser145=) n.3086A>C
6	g.116617058A>G	CA451903950	RSPH4A	c.435A>G (p.Ser145=) n.3086A>G
6	g.116617058A>T	CA451903951	RSPH4A	c.435A>T (p.Ser145=) n.3086A>T
6	g.116617059G>A	CA145923838	RSPH4A	c.436G>A (p.Glu146Lys) n.3087G>A	dbSNP gnomAD v3 gnomAD v4
6	g.116617059G>C	CA365393245	RSPH4A	c.436G>C (p.Glu146Gln) n.3087G>C
6	g.116617059G=	CA1657314748	RSPH4A	c.436G= (p.Glu146=) n.3087G=
6	g.116617059G>T	CA365393246	RSPH4A	c.436G>T (p.Glu146Ter) n.3087G>T
6	g.116617060A=	CA1657314752	RSPH4A	c.437A= (p.Glu146=) n.3088A=
6	g.116617060A>C	CA365393248	RSPH4A	c.437A>C (p.Glu146Ala) n.3088A>C
6	g.116617060A>G	CA3970764	RSPH4A	c.437A>G (p.Glu146Gly) n.3088A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617060A>T	CA365393252	RSPH4A	c.437A>T (p.Glu146Val) n.3088A>T
6	g.116617061A>C	CA365393253	RSPH4A	c.438A>C (p.Glu146Asp) n.3089A>C
6	g.116617061A>G	CA451903954	RSPH4A	c.438A>G (p.Glu146=) n.3089A>G	dbSNP
6	g.116617061A>T	CA365393254	RSPH4A	c.438A>T (p.Glu146Asp) n.3089A>T
6	g.116617062G>A	CA365393261	RSPH4A	c.439G>A (p.Gly147Arg) n.3090G>A	gnomAD v4
6	g.116617062G>C	CA365393258	RSPH4A	c.439G>C (p.Gly147Arg) n.3090G>C
6	g.116617062G>T	CA365393255	RSPH4A	c.439G>T (p.Gly147Ter) n.3090G>T
6	g.116617063G>A	CA365393271	RSPH4A	c.440G>A (p.Gly147Glu) n.3091G>A	dbSNP
6	g.116617063G>C	CA365393292	RSPH4A	c.440G>C (p.Gly147Ala) n.3091G>C
6	g.116617063G>T	CA365393296	RSPH4A	c.440G>T (p.Gly147Val) n.3091G>T
6	g.116617064A=	CA1657314759	RSPH4A	c.441A= (p.Gly147=) n.3092A=
6	g.116617064A>C	CA3970765	RSPH4A	c.441A>C (p.Gly147=) n.3092A>C	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617064A>G	CA451903955	RSPH4A	c.441A>G (p.Gly147=) n.3092A>G	gnomAD v4 COSMIC
6	g.116617064A>T	CA451903956	RSPH4A	c.441A>T (p.Gly147=) n.3092A>T
6	g.116617066del	CA2578721812	RSPH4A	c.443del (p.Asn148ThrfsTer19) n.3094del
6	g.116617065A=	CA1657314762	RSPH4A	c.442A= (p.Asn148=) n.3093A=
6	g.116617065A>C	CA365393316	RSPH4A	c.442A>C (p.Asn148His) n.3093A>C
6	g.116617065A>G	CA365393321	RSPH4A	c.442A>G (p.Asn148Asp) n.3093A>G
6	g.116617065A>T	CA365393324	RSPH4A	c.442A>T (p.Asn148Tyr) n.3093A>T	dbSNP gnomAD v3 gnomAD v4
6	g.116617066A=	CA1657314764	RSPH4A	c.443A= (p.Asn148=) n.3094A=
6	g.116617066A>C	CA365393325	RSPH4A	c.443A>C (p.Asn148Thr) n.3094A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617066A>G	CA365393329	RSPH4A	c.443A>G (p.Asn148Ser) n.3094A>G
6	g.116617066A>T	CA365393332	RSPH4A	c.443A>T (p.Asn148Ile) n.3094A>T
6	g.116617067C>A	CA3970766	RSPH4A	c.444C>A (p.Asn148Lys) n.3095C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617067C=	CA1657314767	RSPH4A	c.444C= (p.Asn148=) n.3095C=
6	g.116617067C>G	CA365393339	RSPH4A	c.444C>G (p.Asn148Lys) n.3095C>G
6	g.116617067C>T	CA451903960	RSPH4A	c.444C>T (p.Asn148=) n.3095C>T
6	g.116617068A=	CA1657314771	RSPH4A	c.445A= (p.Thr149=) n.3096A=
6	g.116617068A>C	CA145923844	RSPH4A	c.445A>C (p.Thr149Pro) n.3096A>C	dbSNP gnomAD v3 gnomAD v4
6	g.116617068A>G	CA365393344	RSPH4A	c.445A>G (p.Thr149Ala) n.3096A>G	gnomAD v4
6	g.116617068A>T	CA365393349	RSPH4A	c.445A>T (p.Thr149Ser) n.3096A>T
6	g.116617069C>A	CA3970767	RSPH4A	c.446C>A (p.Thr149Asn) n.3097C>A	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116617069C=	CA1657314777	RSPH4A	c.446C= (p.Thr149=) n.3097C=
6	g.116617069C>G	CA183058	RSPH4A	c.446C>G (p.Thr149Ser) n.3097C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116617069C>T	CA365393368	RSPH4A	c.446C>T (p.Thr149Ile) n.3097C>T	gnomAD v4
6	g.116617070C>A	CA451903961	RSPH4A	c.447C>A (p.Thr149=) n.3098C>A
6	g.116617070C=	CA1657314785	RSPH4A	c.447C= (p.Thr149=) n.3098C=
6	g.116617070C>G	CA451903963	RSPH4A	c.447C>G (p.Thr149=) n.3098C>G
6	g.116617070C>T	CA451903962	RSPH4A	c.447C>T (p.Thr149=) n.3098C>T	dbSNP gnomAD v2 gnomAD v4
6	g.116617071T>A	CA365393373	RSPH4A	c.448T>A (p.Phe150Ile) n.3099T>A
6	g.116617071T>C	CA365393374	RSPH4A	c.448T>C (p.Phe150Leu) n.3099T>C
6	g.116617071T>G	CA365393376	RSPH4A	c.448T>G (p.Phe150Val) n.3099T>G
6	g.116617072T>A	CA365393378	RSPH4A	c.449T>A (p.Phe150Tyr) n.3100T>A
6	g.116617072T>C	CA365393380	RSPH4A	c.449T>C (p.Phe150Ser) n.3100T>C
6	g.116617072T>G	CA365393383	RSPH4A	c.449T>G (p.Phe150Cys) n.3100T>G
6	g.116617073T>A	CA365393386	RSPH4A	c.450T>A (p.Phe150Leu) n.3101T>A
6	g.116617073T>C	CA451903965	RSPH4A	c.450T>C (p.Phe150=) n.3101T>C
6	g.116617073T>G	CA365393388	RSPH4A	c.450T>G (p.Phe150Leu) n.3101T>G
6	g.116617074C>A	CA365393398	RSPH4A	c.451C>A (p.Gln151Lys) n.3102C>A
6	g.116617074C>G	CA365393404	RSPH4A	c.451C>G (p.Gln151Glu) n.3102C>G
6	g.116617074C>T	CA365393395	RSPH4A	c.451C>T (p.Gln151Ter) n.3102C>T
6	g.116617075A=	CA1657314790	RSPH4A	c.452A= (p.Gln151=) n.3103A=
6	g.116617075A>C	CA365393418	RSPH4A	c.452A>C (p.Gln151Pro) n.3103A>C
6	g.116617075A>G	CA365393411	RSPH4A	c.452A>G (p.Gln151Arg) n.3103A>G	dbSNP gnomAD v2 gnomAD v4
6	g.116617075A>T	CA365393414	RSPH4A	c.452A>T (p.Gln151Leu) n.3103A>T
6	g.116617076A=	CA1657314792	RSPH4A	c.453A= (p.Gln151=) n.3104A=
6	g.116617076A>C	CA365393420	RSPH4A	c.453A>C (p.Gln151His) n.3104A>C
6	g.116617076A>G	CA451903967	RSPH4A	c.453A>G (p.Gln151=) n.3104A>G	dbSNP gnomAD v3 gnomAD v4
6	g.116617076A>T	CA365393422	RSPH4A	c.453A>T (p.Gln151His) n.3104A>T
6	g.116617077C>A	CA365393430	RSPH4A	c.454C>A (p.Gln152Lys) n.3105C>A
6	g.116617077C>G	CA365393433	RSPH4A	c.454C>G (p.Gln152Glu) n.3105C>G
6	g.116617077C>T	CA365393441	RSPH4A	c.454C>T (p.Gln152Ter) n.3105C>T
6	g.116617078A>C	CA365393444	RSPH4A	c.455A>C (p.Gln152Pro) n.3106A>C
6	g.116617078A>G	CA365393448	RSPH4A	c.455A>G (p.Gln152Arg) n.3106A>G	gnomAD v4
6	g.116617078A>T	CA365393451	RSPH4A	c.455A>T (p.Gln152Leu) n.3106A>T	COSMIC
6	g.116617079G>A	CA451903968	RSPH4A	c.456G>A (p.Gln152=) n.3107G>A
6	g.116617079G>C	CA365393455	RSPH4A	c.456G>C (p.Gln152His) n.3107G>C
6	g.116617079G>T	CA365393456	RSPH4A	c.456G>T (p.Gln152His) n.3107G>T
6	g.116617080T>A	CA365393478	RSPH4A	c.457T>A (p.Ser153Thr) n.3108T>A	dbSNP
6	g.116617080T>C	CA365393468	RSPH4A	c.457T>C (p.Ser153Pro) n.3108T>C
6	g.116617080T>G	CA365393474	RSPH4A	c.457T>G (p.Ser153Ala) n.3108T>G
6	g.116617081C>A	CA365393484	RSPH4A	c.458C>A (p.Ser153Tyr) n.3109C>A
6	g.116617081C=	CA1657314793	RSPH4A	c.458C= (p.Ser153=) n.3109C=
6	g.116617081C>G	CA365393487	RSPH4A	c.458C>G (p.Ser153Cys) n.3109C>G	dbSNP
6	g.116617081C>T	CA365393491	RSPH4A	c.458C>T (p.Ser153Phe) n.3109C>T	COSMIC
6	g.116617082T>A	CA451903969	RSPH4A	c.459T>A (p.Ser153=) n.3110T>A
6	g.116617082T>C	CA451903970	RSPH4A	c.459T>C (p.Ser153=) n.3110T>C
6	g.116617082T>G	CA451903971	RSPH4A	c.459T>G (p.Ser153=) n.3110T>G
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

Number of alleles fetched