Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8015294_8015483del	CA2740095253	GUCY2D	c.2770-34_2925del	ClinVar
17	g.8015409A>C	CA397954610	GUCY2D	c.2851A>C (p.Asn951His)
17	g.8015409A>G	CA397954612	GUCY2D	c.2851A>G (p.Asn951Asp)
17	g.8015409A>T	CA397954614	GUCY2D	c.2851A>T (p.Asn951Tyr)
17	g.8015410A=	CA2246119902	GUCY2D	c.2852A= (p.Asn951=)
17	g.8015410A>C	CA397954617	GUCY2D	c.2852A>C (p.Asn951Thr)
17	g.8015410A>G	CA397954619	GUCY2D	c.2852A>G (p.Asn951Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8015410A>T	CA397954621	GUCY2D	c.2852A>T (p.Asn951Ile)
17	g.8015411C>A	CA397954626	GUCY2D	c.2853C>A (p.Asn951Lys)
17	g.8015411C>G	CA397954624	GUCY2D	c.2853C>G (p.Asn951Lys)
17	g.8015411C>T	CA497753665	GUCY2D	c.2853C>T (p.Asn951=)	gnomAD v4
17	g.8015412A>C	CA397954629	GUCY2D	c.2854A>C (p.Met952Leu)
17	g.8015412A>G	CA397954633	GUCY2D	c.2854A>G (p.Met952Val)	gnomAD v4
17	g.8015412A>T	CA397954631	GUCY2D	c.2854A>T (p.Met952Leu)
17	g.8015413T>A	CA397954636	GUCY2D	c.2855T>A (p.Met952Lys)
17	g.8015413T>C	CA397954638	GUCY2D	c.2855T>C (p.Met952Thr)	gnomAD v4
17	g.8015413T>G	CA397954639	GUCY2D	c.2855T>G (p.Met952Arg)
17	g.8015414G>A	CA397954642	GUCY2D	c.2856G>A (p.Met952Ile)	gnomAD v4
17	g.8015414G>C	CA397954644	GUCY2D	c.2856G>C (p.Met952Ile)
17	g.8015414G>T	CA397954646	GUCY2D	c.2856G>T (p.Met952Ile)
17	g.8015415T>A	CA397954648	GUCY2D	c.2857T>A (p.Ser953Thr)
17	g.8015415T>C	CA397954650	GUCY2D	c.2857T>C (p.Ser953Pro)
17	g.8015415T>G	CA397954653	GUCY2D	c.2857T>G (p.Ser953Ala)
17	g.8015416C>A	CA397954655	GUCY2D	c.2858C>A (p.Ser953Ter)
17	g.8015416C>G	CA397954658	GUCY2D	c.2858C>G (p.Ser953Ter)
17	g.8015416C>T	CA397954660	GUCY2D	c.2858C>T (p.Ser953Leu)
17	g.8015417A>C	CA497753666	GUCY2D	c.2859A>C (p.Ser953=)
17	g.8015417A>G	CA497753667	GUCY2D	c.2859A>G (p.Ser953=)
17	g.8015417A>T	CA497753668	GUCY2D	c.2859A>T (p.Ser953=)	ClinVar gnomAD v4
17	g.8015418C>A	CA397954662	GUCY2D	c.2860C>A (p.Leu954Met)
17	g.8015418C=	CA2246119910	GUCY2D	c.2860C= (p.Leu954=)
17	g.8015418C>G	CA397954661	GUCY2D	c.2860C>G (p.Leu954Val)	ClinVar dbSNP
17	g.8015418C>T	CA8366243	GUCY2D	c.2860C>T (p.Leu954=)	ClinVar dbSNP ExAC gnomAD v4
17	g.8015419T>A	CA397954663	GUCY2D	c.2861T>A (p.Leu954Gln)	gnomAD v4
17	g.8015419T>C	CA226103	GUCY2D	c.2861T>C (p.Leu954Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015419T>G	CA397954664	GUCY2D	c.2861T>G (p.Leu954Arg)
17	g.8015419T=	CA2246119922	GUCY2D	c.2861T= (p.Leu954=)
17	g.8015420G>A	CA497753669	GUCY2D	c.2862G>A (p.Leu954=)
17	g.8015420G>C	CA497753670	GUCY2D	c.2862G>C (p.Leu954=)
17	g.8015420G>T	CA497753671	GUCY2D	c.2862G>T (p.Leu954=)
17	g.8015421G>A	CA8366244	GUCY2D	c.2863G>A (p.Asp955Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015421G>C	CA397954665	GUCY2D	c.2863G>C (p.Asp955His)
17	g.8015421G=	CA2246119927	GUCY2D	c.2863G= (p.Asp955=)
17	g.8015421G>T	CA397954666	GUCY2D	c.2863G>T (p.Asp955Tyr)	gnomAD v4
17	g.8015422A=	CA2246119930	GUCY2D	c.2864A= (p.Asp955=)
17	g.8015422A>C	CA397954667	GUCY2D	c.2864A>C (p.Asp955Ala)
17	g.8015422A>G	CA397954668	GUCY2D	c.2864A>G (p.Asp955Gly)	dbSNP
17	g.8015422A>T	CA397954669	GUCY2D	c.2864A>T (p.Asp955Val)
17	g.8015423C>A	CA397954670	GUCY2D	c.2865C>A (p.Asp955Glu)
17	g.8015423C=	CA2246119934	GUCY2D	c.2865C= (p.Asp955=)
17	g.8015423C>G	CA397954671	GUCY2D	c.2865C>G (p.Asp955Glu)
17	g.8015423C>T	CA497753672	GUCY2D	c.2865C>T (p.Asp955=)	dbSNP
17	g.8015424A=	CA2246119938	GUCY2D	c.2866A= (p.Ile956=)
17	g.8015424A>C	CA397954673	GUCY2D	c.2866A>C (p.Ile956Leu)
17	g.8015424A>G	CA397954674	GUCY2D	c.2866A>G (p.Ile956Val)
17	g.8015424A>T	CA397954672	GUCY2D	c.2866A>T (p.Ile956Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.8015425T>A	CA397954675	GUCY2D	c.2867T>A (p.Ile956Asn)	ClinVar
17	g.8015425T>C	CA397954676	GUCY2D	c.2867T>C (p.Ile956Thr)
17	g.8015425T>G	CA397954677	GUCY2D	c.2867T>G (p.Ile956Ser)	gnomAD v4
17	g.8015426C>A	CA497753674	GUCY2D	c.2868C>A (p.Ile956=)
17	g.8015426C>G	CA397954678	GUCY2D	c.2868C>G (p.Ile956Met)
17	g.8015426C>T	CA497753673	GUCY2D	c.2868C>T (p.Ile956=)	gnomAD v4
17	g.8015427C>A	CA397954681	GUCY2D	c.2869C>A (p.Leu957Ile)
17	g.8015427C>G	CA397954683	GUCY2D	c.2869C>G (p.Leu957Val)
17	g.8015427C>T	CA397954684	GUCY2D	c.2869C>T (p.Leu957Phe)
17	g.8015428T>A	CA397954688	GUCY2D	c.2870T>A (p.Leu957His)
17	g.8015428T>C	CA397954690	GUCY2D	c.2870T>C (p.Leu957Pro)
17	g.8015428T>G	CA397954692	GUCY2D	c.2870T>G (p.Leu957Arg)
17	g.8015429del	CA2573154817	GUCY2D	c.2871del (p.Ser958ValfsTer20)	ClinVar dbSNP
17	g.8015429C>A	CA497753675	GUCY2D	c.2871C>A (p.Leu957=)	ClinVar
17	g.8015429C>G	CA497753677	GUCY2D	c.2871C>G (p.Leu957=)
17	g.8015429C>T	CA497753676	GUCY2D	c.2871C>T (p.Leu957=)	gnomAD v4
17	g.8015430A>C	CA397954695	GUCY2D	c.2872A>C (p.Ser958Arg)	ClinVar dbSNP gnomAD v4
17	g.8015430A>G	CA397954697	GUCY2D	c.2872A>G (p.Ser958Gly)	gnomAD v4
17	g.8015430A>T	CA397954699	GUCY2D	c.2872A>T (p.Ser958Cys)
17	g.8015431G>A	CA397954706	GUCY2D	c.2873G>A (p.Ser958Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.8015431G>C	CA397954704	GUCY2D	c.2873G>C (p.Ser958Thr)
17	g.8015431G=	CA2246119951	GUCY2D	c.2873G= (p.Ser958=)
17	g.8015431G>T	CA397954702	GUCY2D	c.2873G>T (p.Ser958Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015432_8015433del	CA2635954076	GUCY2D	c.2874_2875del (p.Ala959ArgfsTer11)	gnomAD v4
17	g.8015432T>A	CA397954708	GUCY2D	c.2874T>A (p.Ser958Arg)
17	g.8015432T>C	CA497753678	GUCY2D	c.2874T>C (p.Ser958=)
17	g.8015432T>G	CA397954711	GUCY2D	c.2874T>G (p.Ser958Arg)
17	g.8015433G>A	CA8366245	GUCY2D	c.2875G>A (p.Ala959Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015433G>C	CA397954713	GUCY2D	c.2875G>C (p.Ala959Pro)
17	g.8015433G=	CA2246119959	GUCY2D	c.2875G= (p.Ala959=)
17	g.8015433G>T	CA397954715	GUCY2D	c.2875G>T (p.Ala959Ser)	gnomAD v4
17	g.8015434C>A	CA397954718	GUCY2D	c.2876C>A (p.Ala959Asp)	dbSNP
17	g.8015434C=	CA2246119966	GUCY2D	c.2876C= (p.Ala959=)
17	g.8015434C>G	CA397954720	GUCY2D	c.2876C>G (p.Ala959Gly)
17	g.8015434C>T	CA397954723	GUCY2D	c.2876C>T (p.Ala959Val)	gnomAD v4
17	g.8015435C>A	CA497753679	GUCY2D	c.2877C>A (p.Ala959=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8015435C=	CA2246119974	GUCY2D	c.2877C= (p.Ala959=)
17	g.8015435C>G	CA497753680	GUCY2D	c.2877C>G (p.Ala959=)
17	g.8015435C>T	CA497753681	GUCY2D	c.2877C>T (p.Ala959=)	ClinVar dbSNP gnomAD v4
17	g.8015435_8015436del	CA2635954094	GUCY2D	c.2877_2878del (p.Val960GlyfsTer10)	gnomAD v4
17	g.8015435_8015439del	CA2635954095	GUCY2D	c.2877_2881del (p.Val960HisfsTer9)	gnomAD v4
17	g.8015436G>A	CA8366246	GUCY2D	c.2878G>A (p.Val960Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8015436G>C	CA397954726	GUCY2D	c.2878G>C (p.Val960Leu)	ClinVar
17	g.8015436G=	CA2246119988	GUCY2D	c.2878G= (p.Val960=)
17	g.8015436G>T	CA397954729	GUCY2D	c.2878G>T (p.Val960Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8015437T>A	CA397954731	GUCY2D	c.2879T>A (p.Val960Glu)
17	g.8015437T>C	CA397954733	GUCY2D	c.2879T>C (p.Val960Ala)
17	g.8015437T>G	CA397954735	GUCY2D	c.2879T>G (p.Val960Gly)
17	g.8015438G>A	CA497753682	GUCY2D	c.2880G>A (p.Val960=)	dbSNP gnomAD v2 gnomAD v4
17	g.8015438G>C	CA497753683	GUCY2D	c.2880G>C (p.Val960=)
17	g.8015438G=	CA2246119994	GUCY2D	c.2880G= (p.Val960=)
17	g.8015438G>T	CA497753684	GUCY2D	c.2880G>T (p.Val960=)
17	g.8015439G>A	CA397954739	GUCY2D	c.2881G>A (p.Gly961Ser)
17	g.8015439G>C	CA397954741	GUCY2D	c.2881G>C (p.Gly961Arg)	ClinVar dbSNP
17	g.8015439G>T	CA397954737	GUCY2D	c.2881G>T (p.Gly961Cys)	gnomAD v4
17	g.8015440G>A	CA397954744	GUCY2D	c.2882G>A (p.Gly961Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.8015440G>C	CA397954748	GUCY2D	c.2882G>C (p.Gly961Ala)
17	g.8015440G=	CA2246119999	GUCY2D	c.2882G= (p.Gly961=)
17	g.8015440G>T	CA397954745	GUCY2D	c.2882G>T (p.Gly961Val)	ClinVar
17	g.8015441C>A	CA497753685	GUCY2D	c.2883C>A (p.Gly961=)
17	g.8015441C=	CA2246120004	GUCY2D	c.2883C= (p.Gly961=)
17	g.8015441C>G	CA497753686	GUCY2D	c.2883C>G (p.Gly961=)
17	g.8015441C>T	CA8366247	GUCY2D	c.2883C>T (p.Gly961=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015442A>C	CA397954751	GUCY2D	c.2884A>C (p.Thr962Pro)
17	g.8015442A>G	CA397954753	GUCY2D	c.2884A>G (p.Thr962Ala)
17	g.8015442A>T	CA397954755	GUCY2D	c.2884A>T (p.Thr962Ser)
17	g.8015442_8015443delinsAC	CA2246120006	GUCY2D	c.2884_2885delinsAC (p.Thr962=)
17	g.8015443del	CA287533747	GUCY2D	c.2885del (p.Thr962IlefsTer16)	dbSNP
17	g.8015443C>A	CA397954759	GUCY2D	c.2885C>A (p.Thr962Asn)
17	g.8015443C>G	CA397954761	GUCY2D	c.2885C>G (p.Thr962Ser)	gnomAD v4
17	g.8015443C>T	CA397954763	GUCY2D	c.2885C>T (p.Thr962Ile)
17	g.8015444T>A	CA497753688	GUCY2D	c.2886T>A (p.Thr962=)
17	g.8015444T>C	CA497753689	GUCY2D	c.2886T>C (p.Thr962=)
17	g.8015444T>G	CA497753687	GUCY2D	c.2886T>G (p.Thr962=)
17	g.8015445T>A	CA397954765	GUCY2D	c.2887T>A (p.Phe963Ile)
17	g.8015445T>C	CA397954770	GUCY2D	c.2887T>C (p.Phe963Leu)
17	g.8015445T>G	CA397954767	GUCY2D	c.2887T>G (p.Phe963Val)
17	g.8015446T>A	CA397954772	GUCY2D	c.2888T>A (p.Phe963Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.8015446T>C	CA287533750	GUCY2D	c.2888T>C (p.Phe963Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8015446T>G	CA397954776	GUCY2D	c.2888T>G (p.Phe963Cys)
17	g.8015446T=	CA2246120016	GUCY2D	c.2888T= (p.Phe963=)
17	g.8015447C>A	CA397954779	GUCY2D	c.2889C>A (p.Phe963Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015447C=	CA2246120045	GUCY2D	c.2889C= (p.Phe963=)
17	g.8015447C>G	CA397954781	GUCY2D	c.2889C>G (p.Phe963Leu)
17	g.8015447C>T	CA497753690	GUCY2D	c.2889C>T (p.Phe963=)
17	g.8015448C>A	CA397954784	GUCY2D	c.2890C>A (p.Arg964Ser)
17	g.8015448C=	CA2246120056	GUCY2D	c.2890C= (p.Arg964=)
17	g.8015448C>G	CA397954787	GUCY2D	c.2890C>G (p.Arg964Gly)
17	g.8015448C>T	CA287533751	GUCY2D	c.2890C>T (p.Arg964Cys)	dbSNP gnomAD v4 COSMIC
17	g.8015449G>A	CA397954790	GUCY2D	c.2891G>A (p.Arg964His)	dbSNP gnomAD v2 gnomAD v4
17	g.8015449G>C	CA397954791	GUCY2D	c.2891G>C (p.Arg964Pro)
17	g.8015449G=	CA2246120073	GUCY2D	c.2891G= (p.Arg964=)
17	g.8015449G>T	CA397954792	GUCY2D	c.2891G>T (p.Arg964Leu)	gnomAD v4
17	g.8015450C>A	CA497753691	GUCY2D	c.2892C>A (p.Arg964=)	ClinVar
17	g.8015450C=	CA2246120081	GUCY2D	c.2892C= (p.Arg964=)
17	g.8015450C>G	CA8366248	GUCY2D	c.2892C>G (p.Arg964=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015450C>T	CA497753692	GUCY2D	c.2892C>T (p.Arg964=)
17	g.8015451A=	CA2246120090	GUCY2D	c.2893A= (p.Met965=)
17	g.8015451A>C	CA8366249	GUCY2D	c.2893A>C (p.Met965Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015451A>G	CA397954796	GUCY2D	c.2893A>G (p.Met965Val)	gnomAD v4
17	g.8015451A>T	CA397954798	GUCY2D	c.2893A>T (p.Met965Leu)
17	g.8015452T>A	CA397954801	GUCY2D	c.2894T>A (p.Met965Lys)
17	g.8015452T>C	CA397954803	GUCY2D	c.2894T>C (p.Met965Thr)
17	g.8015452T>G	CA397954805	GUCY2D	c.2894T>G (p.Met965Arg)
17	g.8015453G>A	CA397954807	GUCY2D	c.2895G>A (p.Met965Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.8015453G>C	CA397954809	GUCY2D	c.2895G>C (p.Met965Ile)
17	g.8015453G=	CA2246120097	GUCY2D	c.2895G= (p.Met965=)
17	g.8015453G>T	CA397954811	GUCY2D	c.2895G>T (p.Met965Ile)
17	g.8015454C>A	CA397954813	GUCY2D	c.2896C>A (p.Arg966Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8015454C=	CA2246120101	GUCY2D	c.2896C= (p.Arg966=)
17	g.8015454C>G	CA287533776	GUCY2D	c.2896C>G (p.Arg966Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015454C>T	CA397954815	GUCY2D	c.2896C>T (p.Arg966Cys)	gnomAD v4
17	g.8015455G>A	CA8366251	GUCY2D	c.2897G>A (p.Arg966His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015455G>C	CA8366250	GUCY2D	c.2897G>C (p.Arg966Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015455G=	CA2246120112	GUCY2D	c.2897G= (p.Arg966=)
17	g.8015455G>T	CA397954822	GUCY2D	c.2897G>T (p.Arg966Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8015455_8015456delinsGC	CA2246120109	GUCY2D	c.2897_2898delinsGC (p.Arg966=)
17	g.8015456C>A	CA497753693	GUCY2D	c.2898C>A (p.Arg966=)
17	g.8015456C>G	CA497753694	GUCY2D	c.2898C>G (p.Arg966=)
17	g.8015456C>T	CA497753695	GUCY2D	c.2898C>T (p.Arg966=)
17	g.8015457del	CA226104	GUCY2D	c.2899del (p.His967IlefsTer11)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015457C>A	CA397954829	GUCY2D	c.2899C>A (p.His967Asn)
17	g.8015457C=	CA2246120128	GUCY2D	c.2899C= (p.His967=)
17	g.8015457C>G	CA397954831	GUCY2D	c.2899C>G (p.His967Asp)	dbSNP
17	g.8015457C>T	CA397954833	GUCY2D	c.2899C>T (p.His967Tyr)	gnomAD v4
17	g.8015458A=	CA2246120135	GUCY2D	c.2900A= (p.His967=)
17	g.8015458A>C	CA397954836	GUCY2D	c.2900A>C (p.His967Pro)	gnomAD v4
17	g.8015458A>G	CA397954837	GUCY2D	c.2900A>G (p.His967Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015458A>T	CA397954840	GUCY2D	c.2900A>T (p.His967Leu)
17	g.8015460_8015461dup	CA624867985	GUCY2D	c.2902_2903dup (p.Met968IlefsTer11)	dbSNP gnomAD v2 gnomAD v4
17	g.8015459T>A	CA397954842	GUCY2D	c.2901T>A (p.His967Gln)
17	g.8015459T>C	CA497753696	GUCY2D	c.2901T>C (p.His967=)
17	g.8015459T>G	CA397954844	GUCY2D	c.2901T>G (p.His967Gln)
17	g.8015460_8015470dup	CA2635954183	GUCY2D	c.2902_2912dup (p.Pro972CysfsTer10)	gnomAD v4
17	g.8015460A>C	CA397954849	GUCY2D	c.2902A>C (p.Met968Leu)
17	g.8015460A>G	CA397954846	GUCY2D	c.2902A>G (p.Met968Val)	gnomAD v4
17	g.8015460A>T	CA397954847	GUCY2D	c.2902A>T (p.Met968Leu)
17	g.8015461T>A	CA397954851	GUCY2D	c.2903T>A (p.Met968Lys)
17	g.8015461T>C	CA397954853	GUCY2D	c.2903T>C (p.Met968Thr)
17	g.8015461T>G	CA397954855	GUCY2D	c.2903T>G (p.Met968Arg)
17	g.8015462G>A	CA397954857	GUCY2D	c.2904G>A (p.Met968Ile)
17	g.8015462G>C	CA397954859	GUCY2D	c.2904G>C (p.Met968Ile)
17	g.8015462G=	CA2246120142	GUCY2D	c.2904G= (p.Met968=)
17	g.8015462G>T	CA397954861	GUCY2D	c.2904G>T (p.Met968Ile)	ClinVar dbSNP
17	g.8015463C>A	CA397954865	GUCY2D	c.2905C>A (p.Pro969Thr)
17	g.8015463C=	CA2246120146	GUCY2D	c.2905C= (p.Pro969=)
17	g.8015463C>G	CA397954867	GUCY2D	c.2905C>G (p.Pro969Ala)
17	g.8015463C>T	CA397954869	GUCY2D	c.2905C>T (p.Pro969Ser)	ClinVar dbSNP gnomAD v4
17	g.8015464C>A	CA397954873	GUCY2D	c.2906C>A (p.Pro969His)
17	g.8015464C=	CA2246120157	GUCY2D	c.2906C= (p.Pro969=)
17	g.8015464C>G	CA397954875	GUCY2D	c.2906C>G (p.Pro969Arg)
17	g.8015464C>T	CA397954877	GUCY2D	c.2906C>T (p.Pro969Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015465T>A	CA497753697	GUCY2D	c.2907T>A (p.Pro969=)
17	g.8015465T>C	CA497753699	GUCY2D	c.2907T>C (p.Pro969=)
17	g.8015465T>G	CA497753698	GUCY2D	c.2907T>G (p.Pro969=)
17	g.8015466G>A	CA397954878	GUCY2D	c.2908G>A (p.Glu970Lys)	gnomAD v4
17	g.8015466G>C	CA397954881	GUCY2D	c.2908G>C (p.Glu970Gln)
17	g.8015466G>T	CA397954880	GUCY2D	c.2908G>T (p.Glu970Ter)
17	g.8015467A>C	CA397954884	GUCY2D	c.2909A>C (p.Glu970Ala)
17	g.8015467A>G	CA397954887	GUCY2D	c.2909A>G (p.Glu970Gly)
17	g.8015467A>T	CA397954885	GUCY2D	c.2909A>T (p.Glu970Val)
17	g.8015468G>A	CA497753700	GUCY2D	c.2910G>A (p.Glu970=)
17	g.8015468G>C	CA397954890	GUCY2D	c.2910G>C (p.Glu970Asp)
17	g.8015468G>T	CA397954891	GUCY2D	c.2910G>T (p.Glu970Asp)
17	g.8015469G>A	CA397954894	GUCY2D	c.2911G>A (p.Val971Ile)
17	g.8015469G>C	CA397954896	GUCY2D	c.2911G>C (p.Val971Leu)
17	g.8015469G>T	CA397954897	GUCY2D	c.2911G>T (p.Val971Phe)
17	g.8015470T>A	CA397954899	GUCY2D	c.2912T>A (p.Val971Asp)
17	g.8015470T>C	CA397954901	GUCY2D	c.2912T>C (p.Val971Ala)
17	g.8015470T>G	CA397954903	GUCY2D	c.2912T>G (p.Val971Gly)
17	g.8015471T>A	CA497753701	GUCY2D	c.2913T>A (p.Val971=)
17	g.8015471T>C	CA497753702	GUCY2D	c.2913T>C (p.Val971=)
17	g.8015471T>G	CA497753703	GUCY2D	c.2913T>G (p.Val971=)	dbSNP gnomAD v4
17	g.8015471T=	CA2246120160	GUCY2D	c.2913T= (p.Val971=)
17	g.8015472C>A	CA397954905	GUCY2D	c.2914C>A (p.Pro972Thr)
17	g.8015472C=	CA2246120172	GUCY2D	c.2914C= (p.Pro972=)
17	g.8015472C>G	CA397954906	GUCY2D	c.2914C>G (p.Pro972Ala)
17	g.8015472C>T	CA397954908	GUCY2D	c.2914C>T (p.Pro972Ser)	dbSNP gnomAD v2
17	g.8015474del	CA2635954216	GUCY2D	c.2916del (p.Val973CysfsTer5)	gnomAD v4
17	g.8015473C>A	CA397954913	GUCY2D	c.2915C>A (p.Pro972His)	gnomAD v4
17	g.8015473C>G	CA397954911	GUCY2D	c.2915C>G (p.Pro972Arg)
17	g.8015473C>T	CA397954910	GUCY2D	c.2915C>T (p.Pro972Leu)
17	g.8015474C>A	CA497753704	GUCY2D	c.2916C>A (p.Pro972=)
17	g.8015474C=	CA2246120173	GUCY2D	c.2916C= (p.Pro972=)
17	g.8015474C>G	CA497753705	GUCY2D	c.2916C>G (p.Pro972=)
17	g.8015474C>T	CA497753706	GUCY2D	c.2916C>T (p.Pro972=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015475G>A	CA8366253	GUCY2D	c.2917G>A (p.Val973Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015475G>C	CA397954917	GUCY2D	c.2917G>C (p.Val973Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8015475G=	CA2246120180	GUCY2D	c.2917G= (p.Val973=)
17	g.8015475G>T	CA8366252	GUCY2D	c.2917G>T (p.Val973Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015476T>A	CA397954920	GUCY2D	c.2918T>A (p.Val973Glu)
17	g.8015476T>C	CA397954922	GUCY2D	c.2918T>C (p.Val973Ala)	gnomAD v4
17	g.8015476T>G	CA397954924	GUCY2D	c.2918T>G (p.Val973Gly)
17	g.8015477G>A	CA497753707	GUCY2D	c.2919G>A (p.Val973=)	dbSNP gnomAD v4
17	g.8015477G>C	CA497753708	GUCY2D	c.2919G>C (p.Val973=)
17	g.8015477G=	CA2246120185	GUCY2D	c.2919G= (p.Val973=)
17	g.8015477G>T	CA497753709	GUCY2D	c.2919G>T (p.Val973=)
17	g.8015478C>A	CA397954926	GUCY2D	c.2920C>A (p.Arg974Ser)
17	g.8015478C=	CA2246120192	GUCY2D	c.2920C= (p.Arg974=)
17	g.8015478C>G	CA397954927	GUCY2D	c.2920C>G (p.Arg974Gly)	gnomAD v4
17	g.8015478C>T	CA397954930	GUCY2D	c.2920C>T (p.Arg974Cys)	dbSNP
17	g.8015479G>A	CA240433	GUCY2D	c.2921G>A (p.Arg974His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015479G>C	CA397954932	GUCY2D	c.2921G>C (p.Arg974Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.8015479G=	CA2246120200	GUCY2D	c.2921G= (p.Arg974=)
17	g.8015479G>T	CA287533778	GUCY2D	c.2921G>T (p.Arg974Leu)	dbSNP
17	g.8015480C>A	CA497753710	GUCY2D	c.2922C>A (p.Arg974=)
17	g.8015480C>G	CA497753711	GUCY2D	c.2922C>G (p.Arg974=)
17	g.8015480C>T	CA497753712	GUCY2D	c.2922C>T (p.Arg974=)
17	g.8015481A>C	CA397954939	GUCY2D	c.2923A>C (p.Ile975Leu)
17	g.8015481A>G	CA397954937	GUCY2D	c.2923A>G (p.Ile975Val)
17	g.8015481A>T	CA397954935	GUCY2D	c.2923A>T (p.Ile975Phe)
17	g.8015482T>A	CA397954940	GUCY2D	c.2924T>A (p.Ile975Asn)
17	g.8015482T>C	CA397954942	GUCY2D	c.2924T>C (p.Ile975Thr)
17	g.8015482T>G	CA397954944	GUCY2D	c.2924T>G (p.Ile975Ser)
17	g.8015483C>A	CA497753713	GUCY2D	c.2925C>A (p.Ile975=)
17	g.8015483C=	CA2246120213	GUCY2D	c.2925C= (p.Ile975=)
17	g.8015483C>G	CA397954946	GUCY2D	c.2925C>G (p.Ile975Met)
17	g.8015483C>T	CA497753714	GUCY2D	c.2925C>T (p.Ile975=)	dbSNP gnomAD v3 gnomAD v4
17	g.8015484C>A	CA397954948	GUCY2D	c.2926C>A (p.Arg976Ser)
17	g.8015484C=	CA2246120219	GUCY2D	c.2926C= (p.Arg976=)
17	g.8015484C>G	CA397954950	GUCY2D	c.2926C>G (p.Arg976Gly)	gnomAD v4
17	g.8015484C>T	CA397954952	GUCY2D	c.2926C>T (p.Arg976Cys)	ClinVar dbSNP gnomAD v4
17	g.8015485G>A	CA397954954	GUCY2D	c.2927G>A (p.Arg976His)	dbSNP gnomAD v2 gnomAD v4
17	g.8015485G>C	CA397954957	GUCY2D	c.2927G>C (p.Arg976Pro)
17	g.8015485G=	CA2246120229	GUCY2D	c.2927G= (p.Arg976=)
17	g.8015485G>T	CA226107	GUCY2D	c.2927G>T (p.Arg976Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015486C>A	CA497753716	GUCY2D	c.2928C>A (p.Arg976=)	ClinVar dbSNP gnomAD v4
17	g.8015486C=	CA2246120242	GUCY2D	c.2928C= (p.Arg976=)
17	g.8015486C>G	CA497753715	GUCY2D	c.2928C>G (p.Arg976=)
17	g.8015486C>T	CA8366254	GUCY2D	c.2928C>T (p.Arg976=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015487A>C	CA397954961	GUCY2D	c.2929A>C (p.Ile977Leu)
17	g.8015487A>G	CA397954963	GUCY2D	c.2929A>G (p.Ile977Val)
17	g.8015487A>T	CA397954965	GUCY2D	c.2929A>T (p.Ile977Leu)	ClinVar
17	g.8015488T>A	CA397954966	GUCY2D	c.2930T>A (p.Ile977Lys)
17	g.8015488T>C	CA8366255	GUCY2D	c.2930T>C (p.Ile977Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015488T>G	CA397954968	GUCY2D	c.2930T>G (p.Ile977Arg)
17	g.8015488T=	CA2246120250	GUCY2D	c.2930T= (p.Ile977=)
17	g.8015489A>C	CA497753717	GUCY2D	c.2931A>C (p.Ile977=)
17	g.8015489A>G	CA397954970	GUCY2D	c.2931A>G (p.Ile977Met)
17	g.8015489A>T	CA497753718	GUCY2D	c.2931A>T (p.Ile977=)	gnomAD v4
17	g.8015490G>A	CA397954971	GUCY2D	c.2932G>A (p.Gly978Ser)
17	g.8015490G>C	CA397954973	GUCY2D	c.2932G>C (p.Gly978Arg)
17	g.8015490G>T	CA397954975	GUCY2D	c.2932G>T (p.Gly978Cys)
17	g.8015491G>A	CA397954977	GUCY2D	c.2933G>A (p.Gly978Asp)	ClinVar dbSNP gnomAD v4
17	g.8015491G>C	CA397954979	GUCY2D	c.2933G>C (p.Gly978Ala)	ClinVar
17	g.8015491G=	CA2246120257	GUCY2D	c.2933G= (p.Gly978=)
17	g.8015491G>T	CA8366256	GUCY2D	c.2933G>T (p.Gly978Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015492C>A	CA497753719	GUCY2D	c.2934C>A (p.Gly978=)	gnomAD v4
17	g.8015492C=	CA2246120273	GUCY2D	c.2934C= (p.Gly978=)
17	g.8015492C>G	CA8366257	GUCY2D	c.2934C>G (p.Gly978=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015492C>T	CA497753720	GUCY2D	c.2934C>T (p.Gly978=)
17	g.8015493C>A	CA397954983	GUCY2D	c.2935C>A (p.Leu979Met)
17	g.8015493C>G	CA397954985	GUCY2D	c.2935C>G (p.Leu979Val)
17	g.8015493C>T	CA497753721	GUCY2D	c.2935C>T (p.Leu979=)
17	g.8015494T>A	CA397954988	GUCY2D	c.2936T>A (p.Leu979Gln)
17	g.8015494T>C	CA397954991	GUCY2D	c.2936T>C (p.Leu979Pro)	ClinVar dbSNP gnomAD v4
17	g.8015494T>G	CA397954989	GUCY2D	c.2936T>G (p.Leu979Arg)
17	g.8015494T=	CA2246120289	GUCY2D	c.2936T= (p.Leu979=)
17	g.8015495del	CA2635954326	GUCY2D	c.2937del (p.His980ThrfsTer?)	gnomAD v4
17	g.8015495G>A	CA497753722	GUCY2D	c.2937G>A (p.Leu979=)
17	g.8015495G>C	CA497753723	GUCY2D	c.2937G>C (p.Leu979=)
17	g.8015495G>T	CA497753724	GUCY2D	c.2937G>T (p.Leu979=)
17	g.8015496C>A	CA397954994	GUCY2D	c.2938C>A (p.His980Asn)	gnomAD v4
17	g.8015496C=	CA2246120301	GUCY2D	c.2938C= (p.His980=)
17	g.8015496C>G	CA397954997	GUCY2D	c.2938C>G (p.His980Asp)
17	g.8015496C>T	CA397954995	GUCY2D	c.2938C>T (p.His980Tyr)	ClinVar dbSNP gnomAD v4
17	g.8015496_8015505delinsCACTCGGGTA	CA2246120299	GUCY2D	c.2938_2944+3delinsCACTCGGGTA
17	g.8015497A=	CA2246120309	GUCY2D	c.2939A= (p.His980=)
17	g.8015497A>C	CA397954999	GUCY2D	c.2939A>C (p.His980Pro)
17	g.8015497A>G	CA397955004	GUCY2D	c.2939A>G (p.His980Arg)
17	g.8015497A>T	CA8366258	GUCY2D	c.2939A>T (p.His980Leu)	ClinVar dbSNP ExAC gnomAD v2
17	g.8015501_8015509del	CA624867986	GUCY2D	c.2943_2944+7del	dbSNP gnomAD v2 gnomAD v4
17	g.8015498C>A	CA397955009	GUCY2D	c.2940C>A (p.His980Gln)	dbSNP
17	g.8015498C>G	CA397955010	GUCY2D	c.2940C>G (p.His980Gln)
17	g.8015498C>T	CA497753725	GUCY2D	c.2940C>T (p.His980=)	gnomAD v4
17	g.8015499T>A	CA397955012	GUCY2D	c.2941T>A (p.Ser981Thr)
17	g.8015499T>C	CA397955014	GUCY2D	c.2941T>C (p.Ser981Pro)
17	g.8015499T>G	CA397955016	GUCY2D	c.2941T>G (p.Ser981Ala)
17	g.8015500C>A	CA397955018	GUCY2D	c.2942C>A (p.Ser981Ter)	gnomAD v4
17	g.8015500C=	CA2246120318	GUCY2D	c.2942C= (p.Ser981=)
17	g.8015500C>G	CA397955020	GUCY2D	c.2942C>G (p.Ser981Trp)	dbSNP
17	g.8015500C>T	CA397955022	GUCY2D	c.2942C>T (p.Ser981Leu)	ClinVar gnomAD v4 COSMIC
17	g.8015500_8015501delinsCG	CA2246120320	GUCY2D	c.2942_2943delinsCG (p.Ser981=)
17	g.8015500_8015501insACA	CA2808381646	GUCY2D	c.2942_2943insACA (p.Ser981_Gly982insGln)
17	g.8015501G>A	CA8366259	GUCY2D	c.2943G>A (p.Ser981=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015501G>C	CA497753727	GUCY2D	c.2943G>C (p.Ser981=)	gnomAD v4
17	g.8015501G=	CA2246120329	GUCY2D	c.2943G= (p.Ser981=)
17	g.8015501G>T	CA497753726	GUCY2D	c.2943G>T (p.Ser981=)	gnomAD v4
17	g.8015503dup	CA2246120330	GUCY2D	c.2944+1dup	dbSNP
17	g.8015503del	CA226109	GUCY2D	c.2944+1del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015502G>A	CA397955029	GUCY2D	c.2944G>A (p.Gly982Ser)
17	g.8015502G>C	CA397955027	GUCY2D	c.2944G>C (p.Gly982Arg)
17	g.8015502G>T	CA397955028	GUCY2D	c.2944G>T (p.Gly982Cys)
17	g.8015503G>A	CA397955030	GUCY2D	c.2944+1G>A (n.2944+1G>A)	gnomAD v4
17	g.8015503G>C	CA397955031	GUCY2D	c.2944+1G>C (n.2944+1G>C)
17	g.8015503G>T	CA397955032	GUCY2D	c.2944+1G>T (n.2944+1G>T)
17	g.8015504T>A	CA397955033	GUCY2D	c.2944+2T>A (n.2944+2T>A)
17	g.8015504T>C	CA397955034	GUCY2D	c.2944+2T>C (n.2944+2T>C)
17	g.8015504T>G	CA397955035	GUCY2D	c.2944+2T>G (n.2944+2T>G)
17	g.8015504_8015505del	CA2808381647	GUCY2D	c.2944+2_2944+3del (n.2944+2_2944+3del)
17	g.8015505A=	CA2246120333	GUCY2D	c.2944+3A= (n.2944+3A=)
17	g.8015505A>G	CA8366260	GUCY2D	c.2944+3A>G (n.2944+3A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015505_8015509delinsAACTC	CA2246120335	GUCY2D	c.2944+3_2944+7delinsAACTC (n.2944+3_2944+7delinsAACTC)
17	g.8015506A>G	CA2635954378	GUCY2D	c.2944+4A>G (n.2944+4A>G)	gnomAD v4
17	g.8015506_8015509del	CA497753728	GUCY2D	c.2944+4_2944+7del (n.2944+4_2944+7del)	dbSNP gnomAD v3 gnomAD v4
17	g.8015508_8015511del	CA397955037	GUCY2D	c.2944+6_2944+9del (n.2944+6_2944+9del)
17	g.8015508T=	CA2246120338	GUCY2D	c.2944+6T= (n.2944+6T=)
17	g.8015509C>A	CA2635954381	GUCY2D	c.2944+7C>A (n.2944+7C>A)	gnomAD v4
17	g.8015509C=	CA2246120341	GUCY2D	c.2944+7C= (n.2944+7C=)
17	g.8015509C>G	CA2246120342	GUCY2D	c.2944+7C>G (n.2944+7C>G)	dbSNP
17	g.8015509C>T	CA2740095257	GUCY2D	c.2944+7C>T (n.2944+7C>T)	ClinVar
17	g.8015511dup	CA775516343	GUCY2D	c.2944+9dup (n.2944+9dup)	dbSNP
17	g.8015511del	CA2635954380	GUCY2D	c.2944+9del (n.2944+9del)	gnomAD v4

Number of alleles fetched