Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8015294_8015483del	CA2740095253	GUCY2D	c.2770-34_2925del	ClinVar
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
17	g.8015511C>A	CA2635954385	GUCY2D	c.2944+9C>A (n.2944+9C>A)	gnomAD v4
17	g.8015511C=	CA2246120346	GUCY2D	c.2944+9C= (n.2944+9C=)
17	g.8015511C>G	CA2635954387	GUCY2D	c.2944+9C>G (n.2944+9C>G)	gnomAD v4
17	g.8015511C>T	CA775516344	GUCY2D	c.2944+9C>T (n.2944+9C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8015512G>A	CA8366261	GUCY2D	c.2944+10G>A (n.2944+10G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015512G>C	CA624867987	GUCY2D	c.2944+10G>C (n.2944+10G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015512G=	CA2246120357	GUCY2D	c.2944+10G= (n.2944+10G=)
17	g.8015512G>T	CA624867988	GUCY2D	c.2944+10G>T (n.2944+10G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015514del	CA2808381649	GUCY2D	c.2944+12del (n.2944+12del)
17	g.8015513_8015514del	CA2808381650	GUCY2D	c.2944+11_2944+12del (n.2944+11_2944+12del)
17	g.8015513G>A	CA287533857	GUCY2D	c.2944+11G>A (n.2944+11G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015513G=	CA2246120360	GUCY2D	c.2944+11G= (n.2944+11G=)
17	g.8015513G>T	CA2808381651	GUCY2D	c.2944+11G>T (n.2944+11G>T)
17	g.8015514G>A	CA2635954410	GUCY2D	c.2944+12G>A (n.2944+12G>A)	gnomAD v4
17	g.8015515T>A	CA2808381653	GUCY2D	c.2944+13T>A (n.2944+13T>A)
17	g.8015515T=	CA2246120362	GUCY2D	c.2944+13T= (n.2944+13T=)
17	g.8015516C=	CA2246120375	GUCY2D	c.2944+14C= (n.2944+14C=)
17	g.8015516C>T	CA624867990	GUCY2D	c.2944+14C>T (n.2944+14C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.8015516_8015525dup	CA624867989	GUCY2D	c.2944+14_2944+23dup (n.2944+14_2944+23dup)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015517T>G	CA287533858	GUCY2D	c.2944+15T>G (n.2944+15T>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015517T=	CA2246120386	GUCY2D	c.2944+15T= (n.2944+15T=)
17	g.8015518T>C	CA624867991	GUCY2D	c.2944+16T>C (n.2944+16T>C)	dbSNP gnomAD v2 gnomAD v4
17	g.8015518T=	CA2246120390	GUCY2D	c.2944+16T= (n.2944+16T=)
17	g.8015521_8015528del	CA2740095258	GUCY2D	c.2944+19_2944+26del (n.2944+19_2944+26del)	ClinVar
17	g.8015519C=	CA2246120396	GUCY2D	c.2944+17C= (n.2944+17C=)
17	g.8015519C>G	CA624867992	GUCY2D	c.2944+17C>G (n.2944+17C>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015519C>T	CA624867993	GUCY2D	c.2944+17C>T (n.2944+17C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.8015521del	CA2635954426	GUCY2D	c.2944+19del (n.2944+19del)	gnomAD v4
17	g.8015520C>A	CA2635954428	GUCY2D	c.2944+18C>A (n.2944+18C>A)	gnomAD v4
17	g.8015520C=	CA2246120399	GUCY2D	c.2944+18C= (n.2944+18C=)
17	g.8015520C>G	CA624867994	GUCY2D	c.2944+18C>G (n.2944+18C>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8015520C>T	CA8366262	GUCY2D	c.2944+18C>T (n.2944+18C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015521C>A	CA2635954437	GUCY2D	c.2944+19C>A (n.2944+19C>A)	gnomAD v4
17	g.8015522A=	CA2246120401	GUCY2D	c.2944+20A= (n.2944+20A=)
17	g.8015522A>C	CA2635954439	GUCY2D	c.2944+20A>C (n.2944+20A>C)	gnomAD v4
17	g.8015522A>T	CA981232621	GUCY2D	c.2944+20A>T (n.2944+20A>T)	dbSNP gnomAD v3 gnomAD v4
17	g.8015523G=	CA2246120405	GUCY2D	c.2944+21G= (n.2944+21G=)
17	g.8015523G>T	CA8366263	GUCY2D	c.2944+21G>T (n.2944+21G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015524G>A	CA624867995	GUCY2D	c.2944+22G>A (n.2944+22G>A)	dbSNP gnomAD v2
17	g.8015524G=	CA2246120408	GUCY2D	c.2944+22G= (n.2944+22G=)
17	g.8015524G>T	CA2635954446	GUCY2D	c.2944+22G>T (n.2944+22G>T)	gnomAD v4
17	g.8015525C>A	CA2635954447	GUCY2D	c.2944+23C>A (n.2944+23C>A)	gnomAD v4
17	g.8015526T>A	CA2635954450	GUCY2D	c.2944+24T>A (n.2944+24T>A)	gnomAD v4
17	g.8015527C>A	CA2576160486	GUCY2D	c.2944+25C>A (n.2944+25C>A)	gnomAD v4
17	g.8015532_8015732del	CA2808381654	GUCY2D	c.2944+30_2945-11del (n.2944+30_2945-11del)
17	g.8015529_8015531del	CA2576160487	GUCY2D	c.2944+27_2944+29del (n.2944+27_2944+29del)
17	g.8015530G>A	CA624867996	GUCY2D	c.2944+28G>A (n.2944+28G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015530G=	CA2246120410	GUCY2D	c.2944+28G= (n.2944+28G=)
17	g.8015531C>A	CA981232633	GUCY2D	c.2944+29C>A (n.2944+29C>A)	dbSNP gnomAD v3 gnomAD v4
17	g.8015531C=	CA2246120415	GUCY2D	c.2944+29C= (n.2944+29C=)
17	g.8015531C>T	CA624867997	GUCY2D	c.2944+29C>T (n.2944+29C>T)	dbSNP gnomAD v2
17	g.8015533del	CA2576160488	GUCY2D	c.2944+31del (n.2944+31del)
17	g.8015532C>A	CA2635954459	GUCY2D	c.2944+30C>A (n.2944+30C>A)	gnomAD v4
17	g.8015532_8015579del	CA2808381655	GUCY2D	c.2944+30_2944+77del (n.2944+30_2944+77del)
17	g.8015533C>A	CA2635954465	GUCY2D	c.2944+31C>A (n.2944+31C>A)	gnomAD v4
17	g.8015533C=	CA2246120416	GUCY2D	c.2944+31C= (n.2944+31C=)
17	g.8015533C>T	CA624867998	GUCY2D	c.2944+31C>T (n.2944+31C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015536C>A	CA2635954468	GUCY2D	c.2944+34C>A (n.2944+34C>A)	gnomAD v4
17	g.8015536C=	CA2246120417	GUCY2D	c.2944+34C= (n.2944+34C=)
17	g.8015536C>T	CA2246120418	GUCY2D	c.2944+34C>T (n.2944+34C>T)	dbSNP gnomAD v4
17	g.8015537T>A	CA2635954470	GUCY2D	c.2944+35T>A (n.2944+35T>A)	gnomAD v4
17	g.8015537T>C	CA624867999	GUCY2D	c.2944+35T>C (n.2944+35T>C)	dbSNP gnomAD v2 gnomAD v4
17	g.8015537T=	CA2246120420	GUCY2D	c.2944+35T= (n.2944+35T=)
17	g.8015538C>T	CA2635954476	GUCY2D	c.2944+36C>T (n.2944+36C>T)	gnomAD v4
17	g.8015539C=	CA2246120423	GUCY2D	c.2944+37C= (n.2944+37C=)
17	g.8015539C>T	CA8366264	GUCY2D	c.2944+37C>T (n.2944+37C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8015540C>A	CA2635954482	GUCY2D	c.2944+38C>A (n.2944+38C>A)	gnomAD v4
17	g.8015540C=	CA2246120427	GUCY2D	c.2944+38C= (n.2944+38C=)
17	g.8015540C>T	CA624868000	GUCY2D	c.2944+38C>T (n.2944+38C>T)	dbSNP gnomAD v2
17	g.8015541_8015542insTTACAT	CA2741516586	GUCY2D	c.2944+39_2944+40insTTACAT (n.2944+39_2944+40insTTACAT)
17	g.8015541_8015542insA	CA2808381656	GUCY2D	c.2944+39_2944+40insA (n.2944+39_2944+40insA)
17	g.8015542C>A	CA2635954487	GUCY2D	c.2944+40C>A (n.2944+40C>A)	gnomAD v4
17	g.8015542C=	CA2246120435	GUCY2D	c.2944+40C= (n.2944+40C=)
17	g.8015542C>G	CA287533863	GUCY2D	c.2944+40C>G (n.2944+40C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.8015542C>T	CA287533871	GUCY2D	c.2944+40C>T (n.2944+40C>T)	dbSNP gnomAD v4
17	g.8015542_8015544delinsCTT	CA2246120437	GUCY2D	c.2944+40_2944+42delinsCTT (n.2944+40_2944+42delinsCTT)
17	g.8015543T>A	CA2808381658	GUCY2D	c.2944+41T>A (n.2944+41T>A)
17	g.8015545del	CA2635954492	GUCY2D	c.2944+43del (n.2944+43del)	gnomAD v4
17	g.8015544_8015545del	CA8366265	GUCY2D	c.2944+42_2944+43del (n.2944+42_2944+43del)	dbSNP ExAC gnomAD v4
17	g.8015543_8015544insGATATTTGCTGTACACATCTGGGTGTTCTGATGTTGGGTGTATACATATTTATAATTGTGA	CA2741516587	GUCY2D	c.2944+41_2944+42insGATATTTGCTGTACACATCTGGGTGTTCTGATGTTGGGTGTATACATATTTATAATTGTGA (n.2944+41_2944+42insGATATTTGCTGTACACATCTGGGTGTTCTGATGTTGGGTGTATACATATTTATAATTGTGA)
17	g.8015545T>A	CA2635954497	GUCY2D	c.2944+43T>A (n.2944+43T>A)	gnomAD v4
17	g.8015545T>C	CA2246120451	GUCY2D	c.2944+43T>C (n.2944+43T>C)	dbSNP
17	g.8015545T=	CA2246120447	GUCY2D	c.2944+43T= (n.2944+43T=)
17	g.8015546A>G	CA2635954498	GUCY2D	c.2944+44A>G (n.2944+44A>G)	gnomAD v4
17	g.8015547G>T	CA2635954499	GUCY2D	c.2944+45G>T (n.2944+45G>T)	gnomAD v4
17	g.8015548G>A	CA775516396	GUCY2D	c.2944+46G>A (n.2944+46G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.8015548G=	CA2246120455	GUCY2D	c.2944+46G= (n.2944+46G=)
17	g.8015548G>T	CA2635954503	GUCY2D	c.2944+46G>T (n.2944+46G>T)	gnomAD v4
17	g.8015549G>A	CA624868001	GUCY2D	c.2944+47G>A (n.2944+47G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.8015549G=	CA2246120459	GUCY2D	c.2944+47G= (n.2944+47G=)
17	g.8015549G>T	CA2635954507	GUCY2D	c.2944+47G>T (n.2944+47G>T)	gnomAD v4
17	g.8015549_8015550insAGA	CA2808381659	GUCY2D	c.2944+47_2944+48insAGA (n.2944+47_2944+48insAGA)
17	g.8015550C>A	CA2576160489	GUCY2D	c.2944+48C>A (n.2944+48C>A)	gnomAD v4
17	g.8015550C=	CA2246120462	GUCY2D	c.2944+48C= (n.2944+48C=)
17	g.8015550C>G	CA624868002	GUCY2D	c.2944+48C>G (n.2944+48C>G)	dbSNP gnomAD v2
17	g.8015550C>T	CA2635954510	GUCY2D	c.2944+48C>T (n.2944+48C>T)	gnomAD v4
17	g.8015550_8015551insA	CA2808381660	GUCY2D	c.2944+48_2944+49insA (n.2944+48_2944+49insA)
17	g.8015551C>A	CA2576160490	GUCY2D	c.2944+49C>A (n.2944+49C>A)	gnomAD v4
17	g.8015551C=	CA2246120481	GUCY2D	c.2944+49C= (n.2944+49C=)
17	g.8015551C>T	CA624868003	GUCY2D	c.2944+49C>T (n.2944+49C>T)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched