Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8003543_8003554dup	CA624867832	GUCY2D	c.496_507dup (p.Ala169_Asp170insThrProAlaAla)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003551C>A	CA497952875	GUCY2D	c.504C>A (p.Ala168=)	dbSNP gnomAD v4
17	g.8003551C=	CA2246053494	GUCY2D	c.504C= (p.Ala168=)
17	g.8003551C>G	CA497952876	GUCY2D	c.504C>G (p.Ala168=)
17	g.8003551C>T	CA497952877	GUCY2D	c.504C>T (p.Ala168=)	gnomAD v4
17	g.8003555_8003579dup	CA2635950159	GUCY2D	c.508_532dup (p.Ala178GlyfsTer?)	gnomAD v4
17	g.8003552G>A	CA397943950	GUCY2D	c.505G>A (p.Ala169Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.8003552G>C	CA397943946	GUCY2D	c.505G>C (p.Ala169Pro)
17	g.8003552G=	CA2246053496	GUCY2D	c.505G= (p.Ala169=)
17	g.8003552G>T	CA397943948	GUCY2D	c.505G>T (p.Ala169Ser)	dbSNP gnomAD v4
17	g.8003553C>A	CA397943953	GUCY2D	c.506C>A (p.Ala169Glu)	gnomAD v4
17	g.8003553C=	CA2246053499	GUCY2D	c.506C= (p.Ala169=)
17	g.8003553C>G	CA397943955	GUCY2D	c.506C>G (p.Ala169Gly)
17	g.8003553C>T	CA397943957	GUCY2D	c.506C>T (p.Ala169Val)	dbSNP gnomAD v4
17	g.8003554G>A	CA497952880	GUCY2D	c.507G>A (p.Ala169=)	gnomAD v4
17	g.8003554G>C	CA497952881	GUCY2D	c.507G>C (p.Ala169=)
17	g.8003554G=	CA2246053500	GUCY2D	c.507G= (p.Ala169=)
17	g.8003554G>T	CA8365502	GUCY2D	c.507G>T (p.Ala169=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003555G>A	CA397943961	GUCY2D	c.508G>A (p.Asp170Asn)	gnomAD v3 gnomAD v4
17	g.8003555G>C	CA397943963	GUCY2D	c.508G>C (p.Asp170His)
17	g.8003555G=	CA2246053502	GUCY2D	c.508G= (p.Asp170=)
17	g.8003555G>T	CA397943966	GUCY2D	c.508G>T (p.Asp170Tyr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003556A>C	CA397943969	GUCY2D	c.509A>C (p.Asp170Ala)	ClinVar
17	g.8003556A>G	CA397943967	GUCY2D	c.509A>G (p.Asp170Gly)	gnomAD v4
17	g.8003556A>T	CA397943968	GUCY2D	c.509A>T (p.Asp170Val)	ClinVar gnomAD v4
17	g.8003557T>A	CA397943970	GUCY2D	c.510T>A (p.Asp170Glu)
17	g.8003557T>C	CA8365503	GUCY2D	c.510T>C (p.Asp170=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003557T>G	CA397943971	GUCY2D	c.510T>G (p.Asp170Glu)	gnomAD v4
17	g.8003557T=	CA2246053504	GUCY2D	c.510T= (p.Asp170=)
17	g.8003558G>A	CA397943972	GUCY2D	c.511G>A (p.Ala171Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003558G>C	CA397943973	GUCY2D	c.511G>C (p.Ala171Pro)
17	g.8003558G=	CA2246053506	GUCY2D	c.511G= (p.Ala171=)
17	g.8003558G>T	CA397943974	GUCY2D	c.511G>T (p.Ala171Ser)	gnomAD v4
17	g.8003559C>A	CA397943975	GUCY2D	c.512C>A (p.Ala171Asp)	gnomAD v4
17	g.8003559C>G	CA397943977	GUCY2D	c.512C>G (p.Ala171Gly)
17	g.8003559C>T	CA397943976	GUCY2D	c.512C>T (p.Ala171Val)	gnomAD v4
17	g.8003560C>A	CA497952883	GUCY2D	c.513C>A (p.Ala171=)
17	g.8003560C=	CA2246053508	GUCY2D	c.513C= (p.Ala171=)
17	g.8003560C>G	CA497952884	GUCY2D	c.513C>G (p.Ala171=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003560C>T	CA497952885	GUCY2D	c.513C>T (p.Ala171=)
17	g.8003561C>A	CA397943978	GUCY2D	c.514C>A (p.Leu172Ile)	gnomAD v4
17	g.8003561C>G	CA397943979	GUCY2D	c.514C>G (p.Leu172Val)
17	g.8003561C>T	CA397943980	GUCY2D	c.514C>T (p.Leu172Phe)	ClinVar gnomAD v4
17	g.8003562T>A	CA397943981	GUCY2D	c.515T>A (p.Leu172His)
17	g.8003562T>C	CA397943982	GUCY2D	c.515T>C (p.Leu172Pro)
17	g.8003562T>G	CA397943983	GUCY2D	c.515T>G (p.Leu172Arg)
17	g.8003563C>A	CA497952890	GUCY2D	c.516C>A (p.Leu172=)	gnomAD v4
17	g.8003563C=	CA2246053510	GUCY2D	c.516C= (p.Leu172=)
17	g.8003563C>G	CA497952888	GUCY2D	c.516C>G (p.Leu172=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003563C>T	CA497952889	GUCY2D	c.516C>T (p.Leu172=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003564T>A	CA397943984	GUCY2D	c.517T>A (p.Tyr173Asn)
17	g.8003564T>C	CA397943985	GUCY2D	c.517T>C (p.Tyr173His)
17	g.8003564T>G	CA397943986	GUCY2D	c.517T>G (p.Tyr173Asp)
17	g.8003565A>C	CA397943987	GUCY2D	c.518A>C (p.Tyr173Ser)
17	g.8003565A>G	CA397943988	GUCY2D	c.518A>G (p.Tyr173Cys)
17	g.8003565A>T	CA397943989	GUCY2D	c.518A>T (p.Tyr173Phe)
17	g.8003565_8003570dup	CA2695224289	GUCY2D	c.518_523dup (p.Ala174_Leu175insHisAla)
17	g.8003566del	CA2635950227	GUCY2D	c.519del (p.Tyr173Ter)	gnomAD v4
17	g.8003566C>A	CA397943990	GUCY2D	c.519C>A (p.Tyr173Ter)	gnomAD v4
17	g.8003566C=	CA2246053512	GUCY2D	c.519C= (p.Tyr173=)
17	g.8003566C>G	CA397943991	GUCY2D	c.519C>G (p.Tyr173Ter)
17	g.8003566C>T	CA241300	GUCY2D	c.519C>T (p.Tyr173=)	ClinVar dbSNP gnomAD v4
17	g.8003567_8003569del	CA2635950224	GUCY2D	c.520_522del (p.Ala174del)	gnomAD v4
17	g.8003567G>A	CA287523303	GUCY2D	c.520G>A (p.Ala174Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003567G>C	CA397943992	GUCY2D	c.520G>C (p.Ala174Pro)
17	g.8003567G=	CA2246053515	GUCY2D	c.520G= (p.Ala174=)
17	g.8003567G>T	CA397943993	GUCY2D	c.520G>T (p.Ala174Ser)	ClinVar dbSNP gnomAD v4
17	g.8003568C>A	CA397943994	GUCY2D	c.521C>A (p.Ala174Asp)	ClinVar gnomAD v4
17	g.8003568C>G	CA397943995	GUCY2D	c.521C>G (p.Ala174Gly)
17	g.8003568C>T	CA397943996	GUCY2D	c.521C>T (p.Ala174Val)	gnomAD v4
17	g.8003569C>A	CA497952894	GUCY2D	c.522C>A (p.Ala174=)	gnomAD v4
17	g.8003569C>G	CA497952895	GUCY2D	c.522C>G (p.Ala174=)
17	g.8003569C>T	CA497952896	GUCY2D	c.522C>T (p.Ala174=)
17	g.8003570C>A	CA397943999	GUCY2D	c.523C>A (p.Leu175Met)	gnomAD v4 COSMIC
17	g.8003570C=	CA2246053518	GUCY2D	c.523C= (p.Leu175=)
17	g.8003570C>G	CA397944001	GUCY2D	c.523C>G (p.Leu175Val)
17	g.8003570C>T	CA497952898	GUCY2D	c.523C>T (p.Leu175=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003571T>A	CA397944004	GUCY2D	c.524T>A (p.Leu175Gln)
17	g.8003571T>C	CA397944006	GUCY2D	c.524T>C (p.Leu175Pro)	gnomAD v4
17	g.8003571T>G	CA287523310	GUCY2D	c.524T>G (p.Leu175Arg)	dbSNP
17	g.8003571T=	CA2246053520	GUCY2D	c.524T= (p.Leu175=)
17	g.8003572G>A	CA8365504	GUCY2D	c.525G>A (p.Leu175=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003572G>C	CA497952901	GUCY2D	c.525G>C (p.Leu175=)
17	g.8003572G=	CA2246053523	GUCY2D	c.525G= (p.Leu175=)
17	g.8003572G>T	CA497952902	GUCY2D	c.525G>T (p.Leu175=)	gnomAD v4
17	g.8003573C>A	CA397944015	GUCY2D	c.526C>A (p.Leu176Ile)	gnomAD v4
17	g.8003573C=	CA2246053526	GUCY2D	c.526C= (p.Leu176=)
17	g.8003573C>G	CA397944013	GUCY2D	c.526C>G (p.Leu176Val)
17	g.8003573C>T	CA397944012	GUCY2D	c.526C>T (p.Leu176Phe)	ClinVar dbSNP gnomAD v4
17	g.8003574T>A	CA397944018	GUCY2D	c.527T>A (p.Leu176His)
17	g.8003574T>C	CA235955	GUCY2D	c.527T>C (p.Leu176Pro)	ClinVar dbSNP gnomAD v4
17	g.8003574T>G	CA397944021	GUCY2D	c.527T>G (p.Leu176Arg)
17	g.8003574T=	CA2246053528	GUCY2D	c.527T= (p.Leu176=)
17	g.8003575T>A	CA497952904	GUCY2D	c.528T>A (p.Leu176=)
17	g.8003575T>C	CA497952906	GUCY2D	c.528T>C (p.Leu176=)
17	g.8003575T>G	CA497952907	GUCY2D	c.528T>G (p.Leu176=)
17	g.8003576C>A	CA8365505	GUCY2D	c.529C>A (p.Arg177Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003576C=	CA2246053530	GUCY2D	c.529C= (p.Arg177=)
17	g.8003576C>G	CA397944025	GUCY2D	c.529C>G (p.Arg177Gly)
17	g.8003576C>T	CA397944027	GUCY2D	c.529C>T (p.Arg177Cys)
17	g.8003577G>A	CA397944031	GUCY2D	c.530G>A (p.Arg177His)	gnomAD v4
17	g.8003577G>C	CA397944033	GUCY2D	c.530G>C (p.Arg177Pro)
17	g.8003577G>T	CA397944035	GUCY2D	c.530G>T (p.Arg177Leu)	gnomAD v4
17	g.8003578C>A	CA497952909	GUCY2D	c.531C>A (p.Arg177=)	gnomAD v4
17	g.8003578C=	CA2246053532	GUCY2D	c.531C= (p.Arg177=)
17	g.8003578C>G	CA497952910	GUCY2D	c.531C>G (p.Arg177=)
17	g.8003578C>T	CA497952911	GUCY2D	c.531C>T (p.Arg177=)	ClinVar dbSNP gnomAD v4
17	g.8003579G>A	CA397944038	GUCY2D	c.532G>A (p.Ala178Thr)	dbSNP gnomAD v4
17	g.8003579G>C	CA397944040	GUCY2D	c.532G>C (p.Ala178Pro)
17	g.8003579G=	CA2246053533	GUCY2D	c.532G= (p.Ala178=)
17	g.8003579G>T	CA397944042	GUCY2D	c.532G>T (p.Ala178Ser)	gnomAD v4
17	g.8003580C>A	CA397944045	GUCY2D	c.533C>A (p.Ala178Glu)	gnomAD v4
17	g.8003580C=	CA2246053535	GUCY2D	c.533C= (p.Ala178=)
17	g.8003580C>G	CA397944048	GUCY2D	c.533C>G (p.Ala178Gly)
17	g.8003580C>T	CA8365506	GUCY2D	c.533C>T (p.Ala178Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003581A=	CA2246053538	GUCY2D	c.534A= (p.Ala178=)
17	g.8003581A>C	CA497952915	GUCY2D	c.534A>C (p.Ala178=)
17	g.8003581A>G	CA8365507	GUCY2D	c.534A>G (p.Ala178=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003581A>T	CA287523321	GUCY2D	c.534A>T (p.Ala178=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003582T>A	CA397944053	GUCY2D	c.535T>A (p.Phe179Ile)
17	g.8003582T>C	CA397944055	GUCY2D	c.535T>C (p.Phe179Leu)	gnomAD v4
17	g.8003582T>G	CA397944058	GUCY2D	c.535T>G (p.Phe179Val)
17	g.8003583T>A	CA397944061	GUCY2D	c.536T>A (p.Phe179Tyr)
17	g.8003583T>C	CA397944063	GUCY2D	c.536T>C (p.Phe179Ser)	COSMIC
17	g.8003583T>G	CA397944065	GUCY2D	c.536T>G (p.Phe179Cys)
17	g.8003584C>A	CA397944070	GUCY2D	c.537C>A (p.Phe179Leu)	gnomAD v4
17	g.8003584C=	CA2246053540	GUCY2D	c.537C= (p.Phe179=)
17	g.8003584C>G	CA397944068	GUCY2D	c.537C>G (p.Phe179Leu)
17	g.8003584C>T	CA497952916	GUCY2D	c.537C>T (p.Phe179=)	dbSNP gnomAD v4
17	g.8003585G>A	CA397944073	GUCY2D	c.538G>A (p.Gly180Ser)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.8003585G>C	CA397944075	GUCY2D	c.538G>C (p.Gly180Arg)
17	g.8003585G=	CA2246053542	GUCY2D	c.538G= (p.Gly180=)
17	g.8003585G>T	CA397944077	GUCY2D	c.538G>T (p.Gly180Cys)	dbSNP gnomAD v4
17	g.8003586G>A	CA397944083	GUCY2D	c.539G>A (p.Gly180Asp)	dbSNP gnomAD v4
17	g.8003586G>C	CA397944085	GUCY2D	c.539G>C (p.Gly180Ala)
17	g.8003586G=	CA2246053544	GUCY2D	c.539G= (p.Gly180=)
17	g.8003586G>T	CA397944088	GUCY2D	c.539G>T (p.Gly180Val)	dbSNP gnomAD v4
17	g.8003587C>A	CA497952918	GUCY2D	c.540C>A (p.Gly180=)	gnomAD v4
17	g.8003587C>G	CA497952919	GUCY2D	c.540C>G (p.Gly180=)
17	g.8003587C>T	CA497952920	GUCY2D	c.540C>T (p.Gly180=)	gnomAD v4
17	g.8003591_8003606dup	CA775505349	GUCY2D	c.544_559dup (p.Val187GlyfsTer?)	dbSNP gnomAD v3 gnomAD v4
17	g.8003588T>A	CA397944091	GUCY2D	c.541T>A (p.Trp181Arg)
17	g.8003588T>C	CA397944095	GUCY2D	c.541T>C (p.Trp181Arg)
17	g.8003588T>G	CA397944093	GUCY2D	c.541T>G (p.Trp181Gly)	gnomAD v4
17	g.8003589G>A	CA397944098	GUCY2D	c.542G>A (p.Trp181Ter)	gnomAD v4
17	g.8003589G>C	CA397944100	GUCY2D	c.542G>C (p.Trp181Ser)
17	g.8003589G>T	CA397944102	GUCY2D	c.542G>T (p.Trp181Leu)	gnomAD v4
17	g.8003591del	CA2635950342	GUCY2D	c.544del (p.Ala182ArgfsTer?)	gnomAD v4
17	g.8003590G>A	CA397944105	GUCY2D	c.543G>A (p.Trp181Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003590G>C	CA397944107	GUCY2D	c.543G>C (p.Trp181Cys)	gnomAD v4
17	g.8003590G=	CA2246053548	GUCY2D	c.543G= (p.Trp181=)
17	g.8003590G>T	CA397944109	GUCY2D	c.543G>T (p.Trp181Cys)	dbSNP gnomAD v4
17	g.8003591_8003595del	CA2635950354	GUCY2D	c.544_548del (p.Ala182ArgfsTer?)	gnomAD v4
17	g.8003591G>A	CA397944113	GUCY2D	c.544G>A (p.Ala182Thr)	gnomAD v4
17	g.8003591G>C	CA397944115	GUCY2D	c.544G>C (p.Ala182Pro)
17	g.8003591G>T	CA397944117	GUCY2D	c.544G>T (p.Ala182Ser)	gnomAD v4
17	g.8003592C>A	CA397944120	GUCY2D	c.545C>A (p.Ala182Glu)	gnomAD v4
17	g.8003592C=	CA2246053550	GUCY2D	c.545C= (p.Ala182=)
17	g.8003592C>G	CA397944122	GUCY2D	c.545C>G (p.Ala182Gly)
17	g.8003592C>T	CA397944124	GUCY2D	c.545C>T (p.Ala182Val)	dbSNP gnomAD v4
17	g.8003593G>A	CA497952924	GUCY2D	c.546G>A (p.Ala182=)	gnomAD v4
17	g.8003593G>C	CA497952925	GUCY2D	c.546G>C (p.Ala182=)
17	g.8003593G>T	CA497952926	GUCY2D	c.546G>T (p.Ala182=)	gnomAD v4
17	g.8003594C>A	CA397944132	GUCY2D	c.547C>A (p.Arg183Ser)	gnomAD v4
17	g.8003594C=	CA2246053552	GUCY2D	c.547C= (p.Arg183=)
17	g.8003594C>G	CA397944127	GUCY2D	c.547C>G (p.Arg183Gly)
17	g.8003594C>T	CA397944129	GUCY2D	c.547C>T (p.Arg183Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.8003595G>A	CA397944135	GUCY2D	c.548G>A (p.Arg183His)	ClinVar gnomAD v4
17	g.8003595G>C	CA397944136	GUCY2D	c.548G>C (p.Arg183Pro)	gnomAD v4
17	g.8003595G>T	CA397944139	GUCY2D	c.548G>T (p.Arg183Leu)	gnomAD v4
17	g.8003596C>A	CA497952930	GUCY2D	c.549C>A (p.Arg183=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003596C=	CA2246053554	GUCY2D	c.549C= (p.Arg183=)
17	g.8003596C>G	CA497952932	GUCY2D	c.549C>G (p.Arg183=)	gnomAD v4
17	g.8003596C>T	CA497952931	GUCY2D	c.549C>T (p.Arg183=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.8003597G>A	CA397944142	GUCY2D	c.550G>A (p.Val184Met)	dbSNP gnomAD v4
17	g.8003597G>C	CA397944144	GUCY2D	c.550G>C (p.Val184Leu)
17	g.8003597G=	CA2246053555	GUCY2D	c.550G= (p.Val184=)
17	g.8003597G>T	CA397944146	GUCY2D	c.550G>T (p.Val184Leu)	gnomAD v4
17	g.8003598T>A	CA397944149	GUCY2D	c.551T>A (p.Val184Glu)
17	g.8003598T>C	CA397944151	GUCY2D	c.551T>C (p.Val184Ala)
17	g.8003598T>G	CA397944154	GUCY2D	c.551T>G (p.Val184Gly)
17	g.8003599G>A	CA497952935	GUCY2D	c.552G>A (p.Val184=)	gnomAD v2 gnomAD v4
17	g.8003599G>C	CA497952937	GUCY2D	c.552G>C (p.Val184=)
17	g.8003599G>T	CA497952938	GUCY2D	c.552G>T (p.Val184=)	gnomAD v4
17	g.8003599_8003602delinsGGCC	CA2246053557	GUCY2D	c.552_555delinsGGCC (p.Val184=)
17	g.8003600G>A	CA397944157	GUCY2D	c.553G>A (p.Ala185Thr)	gnomAD v4 COSMIC
17	g.8003600G>C	CA397944160	GUCY2D	c.553G>C (p.Ala185Pro)
17	g.8003600G>T	CA397944163	GUCY2D	c.553G>T (p.Ala185Ser)	gnomAD v4
17	g.8003600_8003602del	CA8365508	GUCY2D	c.553_555del (p.Ala185del)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003601C>A	CA397944172	GUCY2D	c.554C>A (p.Ala185Asp)	gnomAD v4
17	g.8003601C=	CA2246053562	GUCY2D	c.554C= (p.Ala185=)
17	g.8003601C>G	CA397944168	GUCY2D	c.554C>G (p.Ala185Gly)
17	g.8003601C>T	CA397944170	GUCY2D	c.554C>T (p.Ala185Val)	dbSNP gnomAD v3 gnomAD v4
17	g.8003602C>A	CA497952939	GUCY2D	c.555C>A (p.Ala185=)	gnomAD v4
17	g.8003602C>G	CA497952940	GUCY2D	c.555C>G (p.Ala185=)
17	g.8003602C>T	CA497952941	GUCY2D	c.555C>T (p.Ala185=)	gnomAD v4
17	g.8003603C>A	CA397944175	GUCY2D	c.556C>A (p.Leu186Met)	gnomAD v4
17	g.8003603C=	CA2246053563	GUCY2D	c.556C= (p.Leu186=)
17	g.8003603C>G	CA397944178	GUCY2D	c.556C>G (p.Leu186Val)
17	g.8003603C>T	CA8365509	GUCY2D	c.556C>T (p.Leu186=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003604T>A	CA397944182	GUCY2D	c.557T>A (p.Leu186Gln)
17	g.8003604T>C	CA397944184	GUCY2D	c.557T>C (p.Leu186Pro)
17	g.8003604T>G	CA397944186	GUCY2D	c.557T>G (p.Leu186Arg)
17	g.8003605G>A	CA497952948	GUCY2D	c.558G>A (p.Leu186=)	dbSNP gnomAD v4
17	g.8003605G>C	CA497952946	GUCY2D	c.558G>C (p.Leu186=)	gnomAD v4
17	g.8003605G=	CA2246053565	GUCY2D	c.558G= (p.Leu186=)
17	g.8003605G>T	CA497952947	GUCY2D	c.558G>T (p.Leu186=)	gnomAD v4
17	g.8003606G>A	CA397944189	GUCY2D	c.559G>A (p.Val187Ile)	gnomAD v4
17	g.8003606G>C	CA397944191	GUCY2D	c.559G>C (p.Val187Leu)
17	g.8003606G=	CA2246053567	GUCY2D	c.559G= (p.Val187=)
17	g.8003606G>T	CA397944193	GUCY2D	c.559G>T (p.Val187Phe)	dbSNP gnomAD v4
17	g.8003607T>A	CA397944197	GUCY2D	c.560T>A (p.Val187Asp)
17	g.8003607T>C	CA397944199	GUCY2D	c.560T>C (p.Val187Ala)	gnomAD v4
17	g.8003607T>G	CA397944202	GUCY2D	c.560T>G (p.Val187Gly)
17	g.8003608C>A	CA497952952	GUCY2D	c.561C>A (p.Val187=)	gnomAD v4
17	g.8003608C=	CA2246053568	GUCY2D	c.561C= (p.Val187=)
17	g.8003608C>G	CA497952953	GUCY2D	c.561C>G (p.Val187=)
17	g.8003608C>T	CA497952954	GUCY2D	c.561C>T (p.Val187=)
17	g.8003609A>C	CA397944205	GUCY2D	c.562A>C (p.Thr188Pro)
17	g.8003609A>G	CA397944209	GUCY2D	c.562A>G (p.Thr188Ala)	gnomAD v4
17	g.8003609A>T	CA397944207	GUCY2D	c.562A>T (p.Thr188Ser)
17	g.8003609_8003612dup	CA1139664110	GUCY2D	c.562_565dup (p.Ala189AspfsTer?)	ClinVar dbSNP
17	g.8003610C>A	CA397944212	GUCY2D	c.563C>A (p.Thr188Asn)
17	g.8003610C=	CA2246053572	GUCY2D	c.563C= (p.Thr188=)
17	g.8003610C>G	CA397944214	GUCY2D	c.563C>G (p.Thr188Ser)
17	g.8003610C>T	CA397944216	GUCY2D	c.563C>T (p.Thr188Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.8003611dup	CA2695224290	GUCY2D	c.564dup (p.Ala189ArgfsTer?)
17	g.8003611del	CA2499224988	GUCY2D	c.564del (p.Ala189ProfsTer27)	ClinVar dbSNP
17	g.8003611C>A	CA497952957	GUCY2D	c.564C>A (p.Thr188=)	gnomAD v4
17	g.8003611C=	CA2246053573	GUCY2D	c.564C= (p.Thr188=)
17	g.8003611C>G	CA497952955	GUCY2D	c.564C>G (p.Thr188=)
17	g.8003611C>T	CA497952956	GUCY2D	c.564C>T (p.Thr188=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003612G>A	CA397944219	GUCY2D	c.565G>A (p.Ala189Thr)	gnomAD v4
17	g.8003612G>C	CA397944222	GUCY2D	c.565G>C (p.Ala189Pro)
17	g.8003612G>T	CA397944224	GUCY2D	c.565G>T (p.Ala189Ser)	gnomAD v4
17	g.8003612_8003613delinsGC	CA2246053574	GUCY2D	c.565_566delinsGC (p.Ala189=)
17	g.8003613C>A	CA397944234	GUCY2D	c.566C>A (p.Ala189Asp)
17	g.8003613C=	CA2246053579	GUCY2D	c.566C= (p.Ala189=)
17	g.8003613C>G	CA397944228	GUCY2D	c.566C>G (p.Ala189Gly)	gnomAD v4
17	g.8003613C>T	CA8365510	GUCY2D	c.566C>T (p.Ala189Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003613_8003618delinsTGGGTGGAGG	CA2695224291	GUCY2D	c.566_571delinsTGGGTGGAGG (p.Ala189ValfsTer?)
17	g.8003618dup	CA624867833	GUCY2D	c.571dup (p.Gln191ProfsTer?)	ClinVar gnomAD v2 gnomAD v4
17	g.8003618del	CA397944230	GUCY2D	c.571del (p.Gln191ArgfsTer25)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.8003614C>A	CA497952960	GUCY2D	c.567C>A (p.Ala189=)	gnomAD v4
17	g.8003614C=	CA2246053582	GUCY2D	c.567C= (p.Ala189=)
17	g.8003614C>G	CA287523343	GUCY2D	c.567C>G (p.Ala189=)	ClinVar dbSNP
17	g.8003614C>T	CA497952961	GUCY2D	c.567C>T (p.Ala189=)	gnomAD v4
17	g.8003615C>A	CA397944239	GUCY2D	c.568C>A (p.Pro190Thr)
17	g.8003615C>G	CA397944241	GUCY2D	c.568C>G (p.Pro190Ala)
17	g.8003615C>T	CA397944244	GUCY2D	c.568C>T (p.Pro190Ser)
17	g.8003616C>A	CA397944255	GUCY2D	c.569C>A (p.Pro190His)
17	g.8003616C=	CA2246053585	GUCY2D	c.569C= (p.Pro190=)
17	g.8003616C>G	CA397944247	GUCY2D	c.569C>G (p.Pro190Arg)	ClinVar dbSNP gnomAD v4
17	g.8003616C>T	CA397944253	GUCY2D	c.569C>T (p.Pro190Leu)
17	g.8003617C>A	CA497952965	GUCY2D	c.570C>A (p.Pro190=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003617C=	CA2246053588	GUCY2D	c.570C= (p.Pro190=)
17	g.8003617C>G	CA497952966	GUCY2D	c.570C>G (p.Pro190=)
17	g.8003617C>T	CA497952967	GUCY2D	c.570C>T (p.Pro190=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003618C>A	CA397944258	GUCY2D	c.571C>A (p.Gln191Lys)	gnomAD v4
17	g.8003618C=	CA2246053590	GUCY2D	c.571C= (p.Gln191=)
17	g.8003618C>G	CA397944261	GUCY2D	c.571C>G (p.Gln191Glu)
17	g.8003618C>T	CA8365511	GUCY2D	c.571C>T (p.Gln191Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003619A=	CA2246053593	GUCY2D	c.572A= (p.Gln191=)
17	g.8003619A>C	CA397944265	GUCY2D	c.572A>C (p.Gln191Pro)
17	g.8003619A>G	CA8365512	GUCY2D	c.572A>G (p.Gln191Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003619A>T	CA397944269	GUCY2D	c.572A>T (p.Gln191Leu)	gnomAD v4
17	g.8003620G>A	CA8365513	GUCY2D	c.573G>A (p.Gln191=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003620G>C	CA397944274	GUCY2D	c.573G>C (p.Gln191His)
17	g.8003620G=	CA2246053595	GUCY2D	c.573G= (p.Gln191=)
17	g.8003620G>T	CA397944276	GUCY2D	c.573G>T (p.Gln191His)	gnomAD v4
17	g.8003621G>A	CA397944279	GUCY2D	c.574G>A (p.Asp192Asn)
17	g.8003621G>C	CA397944281	GUCY2D	c.574G>C (p.Asp192His)
17	g.8003621G>T	CA397944283	GUCY2D	c.574G>T (p.Asp192Tyr)
17	g.8003622A=	CA2246053598	GUCY2D	c.575A= (p.Asp192=)
17	g.8003622A>C	CA397944287	GUCY2D	c.575A>C (p.Asp192Ala)
17	g.8003622A>G	CA397944291	GUCY2D	c.575A>G (p.Asp192Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.8003622A>T	CA397944289	GUCY2D	c.575A>T (p.Asp192Val)
17	g.8003623C>A	CA8365514	GUCY2D	c.576C>A (p.Asp192Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003623C=	CA2246053600	GUCY2D	c.576C= (p.Asp192=)
17	g.8003623C>G	CA397944295	GUCY2D	c.576C>G (p.Asp192Glu)
17	g.8003623C>T	CA497952973	GUCY2D	c.576C>T (p.Asp192=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003624C>A	CA397944298	GUCY2D	c.577C>A (p.Leu193Met)	gnomAD v4
17	g.8003624C=	CA2246053603	GUCY2D	c.577C= (p.Leu193=)
17	g.8003624C>G	CA8365515	GUCY2D	c.577C>G (p.Leu193Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003624C>T	CA226149	GUCY2D	c.577C>T (p.Leu193=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003625T>A	CA397944302	GUCY2D	c.578T>A (p.Leu193Gln)	COSMIC
17	g.8003625T>C	CA397944304	GUCY2D	c.578T>C (p.Leu193Pro)	gnomAD v4 COSMIC
17	g.8003625T>G	CA397944307	GUCY2D	c.578T>G (p.Leu193Arg)
17	g.8003626G>A	CA497952978	GUCY2D	c.579G>A (p.Leu193=)
17	g.8003626G>C	CA287523360	GUCY2D	c.579G>C (p.Leu193=)	dbSNP gnomAD v3 gnomAD v4
17	g.8003626G=	CA2246053606	GUCY2D	c.579G= (p.Leu193=)
17	g.8003626G>T	CA497952979	GUCY2D	c.579G>T (p.Leu193=)	gnomAD v4
17	g.8003627T>A	CA397944310	GUCY2D	c.580T>A (p.Trp194Arg)
17	g.8003627T>C	CA397944312	GUCY2D	c.580T>C (p.Trp194Arg)
17	g.8003627T>G	CA397944314	GUCY2D	c.580T>G (p.Trp194Gly)
17	g.8003628G>A	CA397944322	GUCY2D	c.581G>A (p.Trp194Ter)	COSMIC
17	g.8003628G>C	CA397944319	GUCY2D	c.581G>C (p.Trp194Ser)
17	g.8003628G>T	CA397944317	GUCY2D	c.581G>T (p.Trp194Leu)	gnomAD v4
17	g.8003629G>A	CA397944325	GUCY2D	c.582G>A (p.Trp194Ter)
17	g.8003629G>C	CA397944327	GUCY2D	c.582G>C (p.Trp194Cys)
17	g.8003629G>T	CA397944329	GUCY2D	c.582G>T (p.Trp194Cys)	gnomAD v4
17	g.8003630G>A	CA397944332	GUCY2D	c.583G>A (p.Val195Met)	dbSNP gnomAD v2 gnomAD v4
17	g.8003630G>C	CA397944334	GUCY2D	c.583G>C (p.Val195Leu)
17	g.8003630G=	CA2246053608	GUCY2D	c.583G= (p.Val195=)
17	g.8003630G>T	CA397944336	GUCY2D	c.583G>T (p.Val195Leu)	gnomAD v4
17	g.8003631T>A	CA397944340	GUCY2D	c.584T>A (p.Val195Glu)
17	g.8003631T>C	CA397944341	GUCY2D	c.584T>C (p.Val195Ala)	gnomAD v4
17	g.8003631T>G	CA397944343	GUCY2D	c.584T>G (p.Val195Gly)
17	g.8003632G>A	CA497952988	GUCY2D	c.585G>A (p.Val195=)	gnomAD v4
17	g.8003632G>C	CA497952991	GUCY2D	c.585G>C (p.Val195=)
17	g.8003632G>T	CA497952990	GUCY2D	c.585G>T (p.Val195=)	gnomAD v4
17	g.8003633G>A	CA397944346	GUCY2D	c.586G>A (p.Glu196Lys)
17	g.8003633G>C	CA397944349	GUCY2D	c.586G>C (p.Glu196Gln)
17	g.8003633G>T	CA397944351	GUCY2D	c.586G>T (p.Glu196Ter)	gnomAD v4
17	g.8003634A>C	CA397944359	GUCY2D	c.587A>C (p.Glu196Ala)
17	g.8003634A>G	CA397944356	GUCY2D	c.587A>G (p.Glu196Gly)
17	g.8003634A>T	CA397944354	GUCY2D	c.587A>T (p.Glu196Val)
17	g.8003635G>A	CA497952996	GUCY2D	c.588G>A (p.Glu196=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003635G>C	CA397944362	GUCY2D	c.588G>C (p.Glu196Asp)
17	g.8003635G=	CA2246053610	GUCY2D	c.588G= (p.Glu196=)
17	g.8003635G>T	CA397944363	GUCY2D	c.588G>T (p.Glu196Asp)	gnomAD v4
17	g.8003636G>A	CA397944367	GUCY2D	c.589G>A (p.Ala197Thr)
17	g.8003636G>C	CA397944372	GUCY2D	c.589G>C (p.Ala197Pro)
17	g.8003636G>T	CA397944369	GUCY2D	c.589G>T (p.Ala197Ser)	gnomAD v4
17	g.8003637C>A	CA397944375	GUCY2D	c.590C>A (p.Ala197Glu)	gnomAD v4
17	g.8003637C>G	CA397944377	GUCY2D	c.590C>G (p.Ala197Gly)
17	g.8003637C>T	CA397944379	GUCY2D	c.590C>T (p.Ala197Val)	ClinVar gnomAD v4
17	g.8003638G>A	CA497953001	GUCY2D	c.591G>A (p.Ala197=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003638G>C	CA497953004	GUCY2D	c.591G>C (p.Ala197=)	ClinVar
17	g.8003638G=	CA2246053612	GUCY2D	c.591G= (p.Ala197=)
17	g.8003638G>T	CA497953003	GUCY2D	c.591G>T (p.Ala197=)	gnomAD v4
17	g.8003640del	CA2635950592	GUCY2D	c.593del (p.Gly198AspfsTer18)	gnomAD v4
17	g.8003639G>A	CA397944381	GUCY2D	c.592G>A (p.Gly198Arg)	gnomAD v4
17	g.8003639G>C	CA397944384	GUCY2D	c.592G>C (p.Gly198Arg)
17	g.8003639G>T	CA397944387	GUCY2D	c.592G>T (p.Gly198Ter)	gnomAD v4
17	g.8003640G>A	CA397944394	GUCY2D	c.593G>A (p.Gly198Glu)
17	g.8003640G>C	CA397944392	GUCY2D	c.593G>C (p.Gly198Ala)
17	g.8003640G>T	CA397944389	GUCY2D	c.593G>T (p.Gly198Val)	gnomAD v4
17	g.8003641A>C	CA497953005	GUCY2D	c.594A>C (p.Gly198=)
17	g.8003641A>G	CA497953006	GUCY2D	c.594A>G (p.Gly198=)
17	g.8003641A>T	CA497953007	GUCY2D	c.594A>T (p.Gly198=)
17	g.8003642C>A	CA287523361	GUCY2D	c.595C>A (p.Arg199Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003642C=	CA2246053615	GUCY2D	c.595C= (p.Arg199=)
17	g.8003642C>G	CA397944399	GUCY2D	c.595C>G (p.Arg199Gly)
17	g.8003642C>T	CA397944401	GUCY2D	c.595C>T (p.Arg199Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003643G>A	CA397944404	GUCY2D	c.596G>A (p.Arg199His)	dbSNP gnomAD v2 gnomAD v4
17	g.8003643G>C	CA397944406	GUCY2D	c.596G>C (p.Arg199Pro)	ClinVar dbSNP gnomAD v4
17	g.8003643G=	CA2246053619	GUCY2D	c.596G= (p.Arg199=)
17	g.8003643G>T	CA397944409	GUCY2D	c.596G>T (p.Arg199Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8003644C>A	CA497953009	GUCY2D	c.597C>A (p.Arg199=)
17	g.8003644C>G	CA497953010	GUCY2D	c.597C>G (p.Arg199=)
17	g.8003644C>T	CA497953011	GUCY2D	c.597C>T (p.Arg199=)	gnomAD v4
17	g.8003645T>A	CA397944411	GUCY2D	c.598T>A (p.Ser200Thr)
17	g.8003645T>C	CA397944416	GUCY2D	c.598T>C (p.Ser200Pro)	ClinVar gnomAD v4
17	g.8003645T>G	CA397944414	GUCY2D	c.598T>G (p.Ser200Ala)
17	g.8003646C>A	CA397944418	GUCY2D	c.599C>A (p.Ser200Ter)	gnomAD v4
17	g.8003646C=	CA2246053622	GUCY2D	c.599C= (p.Ser200=)
17	g.8003646C>G	CA397944423	GUCY2D	c.599C>G (p.Ser200Ter)
17	g.8003646C>T	CA8365516	GUCY2D	c.599C>T (p.Ser200Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003647A>C	CA497953018	GUCY2D	c.600A>C (p.Ser200=)
17	g.8003647A>G	CA497953016	GUCY2D	c.600A>G (p.Ser200=)
17	g.8003647A>T	CA497953017	GUCY2D	c.600A>T (p.Ser200=)
17	g.8003648C>A	CA397944428	GUCY2D	c.601C>A (p.Leu201Met)
17	g.8003648C>G	CA397944430	GUCY2D	c.601C>G (p.Leu201Val)
17	g.8003648C>T	CA497953021	GUCY2D	c.601C>T (p.Leu201=)
17	g.8003649T>A	CA397944433	GUCY2D	c.602T>A (p.Leu201Gln)
17	g.8003649T>C	CA397944435	GUCY2D	c.602T>C (p.Leu201Pro)	gnomAD v4
17	g.8003649T>G	CA397944438	GUCY2D	c.602T>G (p.Leu201Arg)
17	g.8003650G>A	CA497953023	GUCY2D	c.603G>A (p.Leu201=)	gnomAD v4
17	g.8003650G>C	CA8365517	GUCY2D	c.603G>C (p.Leu201=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003650G=	CA2246053625	GUCY2D	c.603G= (p.Leu201=)
17	g.8003650G>T	CA497953024	GUCY2D	c.603G>T (p.Leu201=)	dbSNP gnomAD v3 gnomAD v4
17	g.8003651T>A	CA397944443	GUCY2D	c.604T>A (p.Ser202Thr)
17	g.8003651T>C	CA397944445	GUCY2D	c.604T>C (p.Ser202Pro)
17	g.8003651T>G	CA397944447	GUCY2D	c.604T>G (p.Ser202Ala)

Number of alleles fetched