Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
6	g.116616950G>A	CA451903816	RSPH4A	c.327G>A (p.Gln109=) n.2978G>A	gnomAD v4
6	g.116616950G>C	CA365391904	RSPH4A	c.327G>C (p.Gln109His) n.2978G>C
6	g.116616950G>T	CA365391903	RSPH4A	c.327G>T (p.Gln109His) n.2978G>T
6	g.116616951T>A	CA365391909	RSPH4A	c.328T>A (p.Ser110Thr) n.2979T>A
6	g.116616951T>C	CA365391910	RSPH4A	c.328T>C (p.Ser110Pro) n.2979T>C
6	g.116616951T>G	CA365391911	RSPH4A	c.328T>G (p.Ser110Ala) n.2979T>G
6	g.116616952C>A	CA365391916	RSPH4A	c.329C>A (p.Ser110Ter) n.2980C>A
6	g.116616952C>G	CA365391917	RSPH4A	c.329C>G (p.Ser110Trp) n.2980C>G
6	g.116616952C>T	CA365391918	RSPH4A	c.329C>T (p.Ser110Leu) n.2980C>T
6	g.116616953G>A	CA451903820	RSPH4A	c.330G>A (p.Ser110=) n.2981G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.116616953G>C	CA451903821	RSPH4A	c.330G>C (p.Ser110=) n.2981G>C
6	g.116616953G=	CA1657314575	RSPH4A	c.330G= (p.Ser110=) n.2981G=
6	g.116616953G>T	CA451903822	RSPH4A	c.330G>T (p.Ser110=) n.2981G>T	dbSNP
6	g.116616954dup	CA2578721811	RSPH4A	c.331dup (p.Asp111GlyfsTer9) n.2982dup	gnomAD v4
6	g.116616954G>A	CA365391920	RSPH4A	c.331G>A (p.Asp111Asn) n.2982G>A
6	g.116616954G>C	CA365391925	RSPH4A	c.331G>C (p.Asp111His) n.2982G>C	gnomAD v4
6	g.116616954G>T	CA365391937	RSPH4A	c.331G>T (p.Asp111Tyr) n.2982G>T
6	g.116616955A=	CA1657314578	RSPH4A	c.332A= (p.Asp111=) n.2983A=
6	g.116616955A>C	CA365391942	RSPH4A	c.332A>C (p.Asp111Ala) n.2983A>C	dbSNP gnomAD v2 gnomAD v4
6	g.116616955A>G	CA365391946	RSPH4A	c.332A>G (p.Asp111Gly) n.2983A>G
6	g.116616955A>T	CA365391947	RSPH4A	c.332A>T (p.Asp111Val) n.2983A>T
6	g.116616956C>A	CA365391948	RSPH4A	c.333C>A (p.Asp111Glu) n.2984C>A
6	g.116616956C>G	CA365391949	RSPH4A	c.333C>G (p.Asp111Glu) n.2984C>G
6	g.116616956C>T	CA451903826	RSPH4A	c.333C>T (p.Asp111=) n.2984C>T
6	g.116616957A>C	CA451903827	RSPH4A	c.334A>C (p.Arg112=) n.2985A>C
6	g.116616957A>G	CA365391967	RSPH4A	c.334A>G (p.Arg112Gly) n.2985A>G
6	g.116616957A>T	CA365391980	RSPH4A	c.334A>T (p.Arg112Trp) n.2985A>T
6	g.116616958G>A	CA365391988	RSPH4A	c.335G>A (p.Arg112Lys) n.2986G>A
6	g.116616958G>C	CA365391989	RSPH4A	c.335G>C (p.Arg112Thr) n.2986G>C
6	g.116616958G=	CA1657314580	RSPH4A	c.335G= (p.Arg112=) n.2986G=
6	g.116616958G>T	CA365391993	RSPH4A	c.335G>T (p.Arg112Met) n.2986G>T	dbSNP gnomAD v4
6	g.116616958_116616960delinsTAC	CA2573140424	RSPH4A	c.335_337delinsTAC (p.Arg112_Thr113delinsIlePro) n.2986_2988delinsTAC	ClinVar dbSNP
6	g.116616959G>A	CA451903831	RSPH4A	c.336G>A (p.Arg112=) n.2987G>A	dbSNP gnomAD v4
6	g.116616959G>C	CA365391997	RSPH4A	c.336G>C (p.Arg112Ser) n.2987G>C
6	g.116616959G=	CA1657314584	RSPH4A	c.336G= (p.Arg112=) n.2987G=
6	g.116616959G>T	CA365392000	RSPH4A	c.336G>T (p.Arg112Ser) n.2987G>T
6	g.116616960A=	CA1657314586	RSPH4A	c.337A= (p.Thr113=) n.2988A=
6	g.116616960A>C	CA365392003	RSPH4A	c.337A>C (p.Thr113Pro) n.2988A>C	dbSNP gnomAD v4
6	g.116616960A>G	CA365392007	RSPH4A	c.337A>G (p.Thr113Ala) n.2988A>G	gnomAD v4
6	g.116616960A>T	CA365392014	RSPH4A	c.337A>T (p.Thr113Ser) n.2988A>T
6	g.116616961C>A	CA365392020	RSPH4A	c.338C>A (p.Thr113Asn) n.2989C>A
6	g.116616961C>G	CA365392025	RSPH4A	c.338C>G (p.Thr113Ser) n.2989C>G
6	g.116616961C>T	CA365392028	RSPH4A	c.338C>T (p.Thr113Ile) n.2989C>T
6	g.116616962C>A	CA451903836	RSPH4A	c.339C>A (p.Thr113=) n.2990C>A
6	g.116616962C>G	CA451903837	RSPH4A	c.339C>G (p.Thr113=) n.2990C>G
6	g.116616962C>T	CA451903835	RSPH4A	c.339C>T (p.Thr113=) n.2990C>T
6	g.116616963A=	CA1657314588	RSPH4A	c.340A= (p.Thr114=) n.2991A=
6	g.116616963A>C	CA365392034	RSPH4A	c.340A>C (p.Thr114Pro) n.2991A>C
6	g.116616963A>G	CA3970743	RSPH4A	c.340A>G (p.Thr114Ala) n.2991A>G	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616963A>T	CA365392035	RSPH4A	c.340A>T (p.Thr114Ser) n.2991A>T
6	g.116616964C>A	CA3970744	RSPH4A	c.341C>A (p.Thr114Lys) n.2992C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616964C=	CA1657314593	RSPH4A	c.341C= (p.Thr114=) n.2992C=
6	g.116616964C>G	CA365392040	RSPH4A	c.341C>G (p.Thr114Arg) n.2992C>G
6	g.116616964C>T	CA365392045	RSPH4A	c.341C>T (p.Thr114Met) n.2992C>T	dbSNP gnomAD v3 gnomAD v4
6	g.116616965G>A	CA3970745	RSPH4A	c.342G>A (p.Thr114=) n.2993G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.116616965G>C	CA451903841	RSPH4A	c.342G>C (p.Thr114=) n.2993G>C	gnomAD v4
6	g.116616965G=	CA1657314601	RSPH4A	c.342G= (p.Thr114=) n.2993G=
6	g.116616965G>T	CA451903842	RSPH4A	c.342G>T (p.Thr114=) n.2993G>T
6	g.116616966A>C	CA365392047	RSPH4A	c.343A>C (p.Ser115Arg) n.2994A>C
6	g.116616966A>G	CA365392048	RSPH4A	c.343A>G (p.Ser115Gly) n.2994A>G
6	g.116616966A>T	CA365392052	RSPH4A	c.343A>T (p.Ser115Cys) n.2994A>T
6	g.116616966_116616968delinsAGT	CA1657314604	RSPH4A	c.343_345delinsAGT (p.Ser115=) n.2994_2996delinsAGT
6	g.116616967G>A	CA365392062	RSPH4A	c.344G>A (p.Ser115Asn) n.2995G>A	gnomAD v4
6	g.116616967G>C	CA365392072	RSPH4A	c.344G>C (p.Ser115Thr) n.2995G>C	gnomAD v4
6	g.116616967G>T	CA365392088	RSPH4A	c.344G>T (p.Ser115Ile) n.2995G>T
6	g.116616970_116616971del	CA3970746	RSPH4A	c.347_348del (p.Val116AspfsTer3) n.2998_2999del	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.116616968T>A	CA365392092	RSPH4A	c.345T>A (p.Ser115Arg) n.2996T>A
6	g.116616968T>C	CA451903845	RSPH4A	c.345T>C (p.Ser115=) n.2996T>C
6	g.116616968T>G	CA365392093	RSPH4A	c.345T>G (p.Ser115Arg) n.2996T>G
6	g.116616969G>A	CA365392096	RSPH4A	c.346G>A (p.Val116Met) n.2997G>A
6	g.116616969G>C	CA365392098	RSPH4A	c.346G>C (p.Val116Leu) n.2997G>C
6	g.116616969G>T	CA365392099	RSPH4A	c.346G>T (p.Val116Leu) n.2997G>T
6	g.116616970T>A	CA365392105	RSPH4A	c.347T>A (p.Val116Glu) n.2998T>A
6	g.116616970T>C	CA365392110	RSPH4A	c.347T>C (p.Val116Ala) n.2998T>C
6	g.116616970T>G	CA365392113	RSPH4A	c.347T>G (p.Val116Gly) n.2998T>G
6	g.116616971G>A	CA451903849	RSPH4A	c.348G>A (p.Val116=) n.2999G>A
6	g.116616971G>C	CA451903850	RSPH4A	c.348G>C (p.Val116=) n.2999G>C	dbSNP gnomAD v3 gnomAD v4
6	g.116616971G=	CA1657314609	RSPH4A	c.348G= (p.Val116=) n.2999G=
6	g.116616971G>T	CA451903851	RSPH4A	c.348G>T (p.Val116=) n.2999G>T
6	g.116616972A>C	CA365392118	RSPH4A	c.349A>C (p.Ile117Leu) n.3000A>C
6	g.116616972A>G	CA365392122	RSPH4A	c.349A>G (p.Ile117Val) n.3000A>G
6	g.116616972A>T	CA365392125	RSPH4A	c.349A>T (p.Ile117Phe) n.3000A>T
6	g.116616973T>A	CA365392130	RSPH4A	c.350T>A (p.Ile117Asn) n.3001T>A
6	g.116616973T>C	CA365392137	RSPH4A	c.350T>C (p.Ile117Thr) n.3001T>C	gnomAD v4
6	g.116616973T>G	CA365392140	RSPH4A	c.350T>G (p.Ile117Ser) n.3001T>G
6	g.116616974dup	CA2572603148	RSPH4A	c.351dup (p.Pro118SerfsTer2) n.3002dup	gnomAD v4
6	g.116616974T>A	CA451903855	RSPH4A	c.351T>A (p.Ile117=) n.3002T>A
6	g.116616974T>C	CA451903856	RSPH4A	c.351T>C (p.Ile117=) n.3002T>C
6	g.116616974T>G	CA365392149	RSPH4A	c.351T>G (p.Ile117Met) n.3002T>G
6	g.116616975C>A	CA365392164	RSPH4A	c.352C>A (p.Pro118Thr) n.3003C>A
6	g.116616975C>G	CA365392161	RSPH4A	c.352C>G (p.Pro118Ala) n.3003C>G
6	g.116616975C>T	CA365392154	RSPH4A	c.352C>T (p.Pro118Ser) n.3003C>T
6	g.116616976C>A	CA365392170	RSPH4A	c.353C>A (p.Pro118His) n.3004C>A
6	g.116616976C>G	CA365392173	RSPH4A	c.353C>G (p.Pro118Arg) n.3004C>G
6	g.116616976C>T	CA365392176	RSPH4A	c.353C>T (p.Pro118Leu) n.3004C>T
6	g.116616977T>A	CA451903860	RSPH4A	c.354T>A (p.Pro118=) n.3005T>A
6	g.116616977T>C	CA451903861	RSPH4A	c.354T>C (p.Pro118=) n.3005T>C
6	g.116616977T>G	CA451903862	RSPH4A	c.354T>G (p.Pro118=) n.3005T>G
6	g.116616978G>A	CA365392179	RSPH4A	c.355G>A (p.Glu119Lys) n.3006G>A
6	g.116616978G>C	CA365392183	RSPH4A	c.355G>C (p.Glu119Gln) n.3006G>C
6	g.116616978G>T	CA365392185	RSPH4A	c.355G>T (p.Glu119Ter) n.3006G>T
6	g.116616979A=	CA1657314613	RSPH4A	c.356A= (p.Glu119=) n.3007A=
6	g.116616979A>C	CA365392193	RSPH4A	c.356A>C (p.Glu119Ala) n.3007A>C
6	g.116616979A>G	CA365392197	RSPH4A	c.356A>G (p.Glu119Gly) n.3007A>G	dbSNP gnomAD v2 gnomAD v4
6	g.116616979A>T	CA365392204	RSPH4A	c.356A>T (p.Glu119Val) n.3007A>T
6	g.116616980A>C	CA365392209	RSPH4A	c.357A>C (p.Glu119Asp) n.3008A>C
6	g.116616980A>G	CA451903864	RSPH4A	c.357A>G (p.Glu119=) n.3008A>G
6	g.116616980A>T	CA365392215	RSPH4A	c.357A>T (p.Glu119Asp) n.3008A>T
6	g.116616981G>A	CA365392221	RSPH4A	c.358G>A (p.Ala120Thr) n.3009G>A
6	g.116616981G>C	CA365392225	RSPH4A	c.358G>C (p.Ala120Pro) n.3009G>C
6	g.116616981G>T	CA365392229	RSPH4A	c.358G>T (p.Ala120Ser) n.3009G>T
6	g.116616982C>A	CA365392245	RSPH4A	c.359C>A (p.Ala120Asp) n.3010C>A
6	g.116616982C=	CA1657314617	RSPH4A	c.359C= (p.Ala120=) n.3010C=
6	g.116616982C>G	CA365392248	RSPH4A	c.359C>G (p.Ala120Gly) n.3010C>G
6	g.116616982C>T	CA3970747	RSPH4A	c.359C>T (p.Ala120Val) n.3010C>T	dbSNP ExAC
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

Number of alleles fetched