Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8003478_8003540del	CA2695224288	GUCY2D	c.431_493del (p.Gly144_Ala164del)
17	g.8003481T>A	CA397943572	GUCY2D	c.434T>A (p.Ile145Asn)
17	g.8003481T>C	CA397943577	GUCY2D	c.434T>C (p.Ile145Thr)
17	g.8003481T>G	CA397943575	GUCY2D	c.434T>G (p.Ile145Ser)
17	g.8003482C>A	CA287523200	GUCY2D	c.435C>A (p.Ile145=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003482C=	CA2246053429	GUCY2D	c.435C= (p.Ile145=)
17	g.8003482C>G	CA397943580	GUCY2D	c.435C>G (p.Ile145Met)
17	g.8003482C>T	CA497952793	GUCY2D	c.435C>T (p.Ile145=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003483G>A	CA397943582	GUCY2D	c.436G>A (p.Ala146Thr)	gnomAD v4
17	g.8003483G>C	CA397943584	GUCY2D	c.436G>C (p.Ala146Pro)
17	g.8003483G>T	CA397943586	GUCY2D	c.436G>T (p.Ala146Ser)
17	g.8003484C>A	CA397943589	GUCY2D	c.437C>A (p.Ala146Glu)	gnomAD v4
17	g.8003484C>G	CA397943591	GUCY2D	c.437C>G (p.Ala146Gly)
17	g.8003484C>T	CA397943593	GUCY2D	c.437C>T (p.Ala146Val)
17	g.8003485G>A	CA8365496	GUCY2D	c.438G>A (p.Ala146=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003485G>C	CA497952794	GUCY2D	c.438G>C (p.Ala146=)	gnomAD v4
17	g.8003485G=	CA2246053432	GUCY2D	c.438G= (p.Ala146=)
17	g.8003485G>T	CA287523211	GUCY2D	c.438G>T (p.Ala146=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003486C>A	CA397943598	GUCY2D	c.439C>A (p.Leu147Met)	gnomAD v4
17	g.8003486C>G	CA397943600	GUCY2D	c.439C>G (p.Leu147Val)
17	g.8003486C>T	CA497952796	GUCY2D	c.439C>T (p.Leu147=)	gnomAD v4
17	g.8003487T>A	CA397943607	GUCY2D	c.440T>A (p.Leu147Gln)
17	g.8003487T>C	CA397943605	GUCY2D	c.440T>C (p.Leu147Pro)	gnomAD v4
17	g.8003487T>G	CA397943603	GUCY2D	c.440T>G (p.Leu147Arg)
17	g.8003488G>A	CA497952799	GUCY2D	c.441G>A (p.Leu147=)
17	g.8003488G>C	CA497952800	GUCY2D	c.441G>C (p.Leu147=)
17	g.8003488G>T	CA497952801	GUCY2D	c.441G>T (p.Leu147=)
17	g.8003489del	CA2740095225	GUCY2D	c.442del (p.Val148CysfsTer18)	ClinVar
17	g.8003489G>A	CA397943611	GUCY2D	c.442G>A (p.Val148Met)	COSMIC
17	g.8003489G>C	CA397943613	GUCY2D	c.442G>C (p.Val148Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.8003489G=	CA2246053434	GUCY2D	c.442G= (p.Val148=)
17	g.8003489G>T	CA397943615	GUCY2D	c.442G>T (p.Val148Leu)
17	g.8003490T>A	CA397943618	GUCY2D	c.443T>A (p.Val148Glu)
17	g.8003490T>C	CA397943620	GUCY2D	c.443T>C (p.Val148Ala)	gnomAD v4
17	g.8003490T>G	CA397943622	GUCY2D	c.443T>G (p.Val148Gly)
17	g.8003491G>A	CA497952802	GUCY2D	c.444G>A (p.Val148=)	gnomAD v4
17	g.8003491G>C	CA497952803	GUCY2D	c.444G>C (p.Val148=)
17	g.8003491G>T	CA497952804	GUCY2D	c.444G>T (p.Val148=)
17	g.8003492C>A	CA397943624	GUCY2D	c.445C>A (p.Pro149Thr)	gnomAD v4
17	g.8003492C>G	CA397943627	GUCY2D	c.445C>G (p.Pro149Ala)
17	g.8003492C>T	CA397943629	GUCY2D	c.445C>T (p.Pro149Ser)
17	g.8003493C>A	CA397943632	GUCY2D	c.446C>A (p.Pro149His)
17	g.8003493C>G	CA397943634	GUCY2D	c.446C>G (p.Pro149Arg)
17	g.8003493C>T	CA397943636	GUCY2D	c.446C>T (p.Pro149Leu)	gnomAD v4
17	g.8003494C>A	CA497952806	GUCY2D	c.447C>A (p.Pro149=)
17	g.8003494C>G	CA497952808	GUCY2D	c.447C>G (p.Pro149=)
17	g.8003494C>T	CA497952807	GUCY2D	c.447C>T (p.Pro149=)	gnomAD v4
17	g.8003495T>A	CA397943642	GUCY2D	c.448T>A (p.Trp150Arg)	gnomAD v4
17	g.8003495T>C	CA397943644	GUCY2D	c.448T>C (p.Trp150Arg)	ClinVar
17	g.8003495T>G	CA397943640	GUCY2D	c.448T>G (p.Trp150Gly)
17	g.8003496G>A	CA397943651	GUCY2D	c.449G>A (p.Trp150Ter)
17	g.8003496G>C	CA397943647	GUCY2D	c.449G>C (p.Trp150Ser)	ClinVar
17	g.8003496G>T	CA397943649	GUCY2D	c.449G>T (p.Trp150Leu)
17	g.8003497G>A	CA397943654	GUCY2D	c.450G>A (p.Trp150Ter)	ClinVar gnomAD v4
17	g.8003497G>C	CA397943656	GUCY2D	c.450G>C (p.Trp150Cys)
17	g.8003497G>T	CA397943658	GUCY2D	c.450G>T (p.Trp150Cys)	gnomAD v4
17	g.8003498G>A	CA287523239	GUCY2D	c.451G>A (p.Gly151Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003498G>C	CA397943664	GUCY2D	c.451G>C (p.Gly151Arg)
17	g.8003498G=	CA2246053435	GUCY2D	c.451G= (p.Gly151=)
17	g.8003498G>T	CA397943661	GUCY2D	c.451G>T (p.Gly151Cys)
17	g.8003499G>A	CA287523247	GUCY2D	c.452G>A (p.Gly151Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003499G>C	CA397943670	GUCY2D	c.452G>C (p.Gly151Ala)
17	g.8003499G=	CA2246053437	GUCY2D	c.452G= (p.Gly151=)
17	g.8003499G>T	CA397943672	GUCY2D	c.452G>T (p.Gly151Val)	gnomAD v4
17	g.8003500C>A	CA497952812	GUCY2D	c.453C>A (p.Gly151=)	gnomAD v4
17	g.8003500C>G	CA497952813	GUCY2D	c.453C>G (p.Gly151=)
17	g.8003500C>T	CA497952814	GUCY2D	c.453C>T (p.Gly151=)
17	g.8003501T>A	CA397943675	GUCY2D	c.454T>A (p.Cys152Ser)
17	g.8003501T>C	CA397943677	GUCY2D	c.454T>C (p.Cys152Arg)
17	g.8003501T>G	CA397943679	GUCY2D	c.454T>G (p.Cys152Gly)
17	g.8003502G>A	CA397943682	GUCY2D	c.455G>A (p.Cys152Tyr)	gnomAD v4
17	g.8003502G>C	CA397943687	GUCY2D	c.455G>C (p.Cys152Ser)
17	g.8003502G>T	CA397943685	GUCY2D	c.455G>T (p.Cys152Phe)
17	g.8003509_8003537del	CA2635949934	GUCY2D	c.462_490del (p.Trp154CysfsTer?)	gnomAD v4
17	g.8003503C>A	CA397943689	GUCY2D	c.456C>A (p.Cys152Ter)	gnomAD v4
17	g.8003503C>G	CA397943691	GUCY2D	c.456C>G (p.Cys152Trp)
17	g.8003503C>T	CA497952817	GUCY2D	c.456C>T (p.Cys152=)	ClinVar
17	g.8003506del	CA2635949941	GUCY2D	c.459del (p.Trp154GlyfsTer12)	gnomAD v4
17	g.8003504C>A	CA397943694	GUCY2D	c.457C>A (p.Pro153Thr)	gnomAD v4
17	g.8003504C>G	CA397943696	GUCY2D	c.457C>G (p.Pro153Ala)
17	g.8003504C>T	CA397943699	GUCY2D	c.457C>T (p.Pro153Ser)	ClinVar gnomAD v4
17	g.8003505C>A	CA397943703	GUCY2D	c.458C>A (p.Pro153His)
17	g.8003505C>G	CA397943705	GUCY2D	c.458C>G (p.Pro153Arg)	gnomAD v4
17	g.8003505C>T	CA397943707	GUCY2D	c.458C>T (p.Pro153Leu)	gnomAD v4
17	g.8003506C>A	CA497952821	GUCY2D	c.459C>A (p.Pro153=)
17	g.8003506C>G	CA497952823	GUCY2D	c.459C>G (p.Pro153=)
17	g.8003506C>T	CA497952822	GUCY2D	c.459C>T (p.Pro153=)	ClinVar dbSNP gnomAD v4
17	g.8003507T>A	CA397943710	GUCY2D	c.460T>A (p.Trp154Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.8003507T>C	CA397943712	GUCY2D	c.460T>C (p.Trp154Arg)	dbSNP
17	g.8003507T>G	CA397943714	GUCY2D	c.460T>G (p.Trp154Gly)
17	g.8003507T=	CA2246053439	GUCY2D	c.460T= (p.Trp154=)
17	g.8003508G>A	CA397943722	GUCY2D	c.461G>A (p.Trp154Ter)
17	g.8003508G>C	CA397943720	GUCY2D	c.461G>C (p.Trp154Ser)
17	g.8003508G>T	CA397943718	GUCY2D	c.461G>T (p.Trp154Leu)
17	g.8003509G>A	CA397943725	GUCY2D	c.462G>A (p.Trp154Ter)
17	g.8003509G>C	CA397943726	GUCY2D	c.462G>C (p.Trp154Cys)
17	g.8003509G>T	CA397943728	GUCY2D	c.462G>T (p.Trp154Cys)
17	g.8003510A>C	CA397943731	GUCY2D	c.463A>C (p.Thr155Pro)
17	g.8003510A>G	CA397943733	GUCY2D	c.463A>G (p.Thr155Ala)
17	g.8003510A>T	CA397943735	GUCY2D	c.463A>T (p.Thr155Ser)
17	g.8003511C>A	CA397943742	GUCY2D	c.464C>A (p.Thr155Lys)	gnomAD v4
17	g.8003511C=	CA2246053441	GUCY2D	c.464C= (p.Thr155=)
17	g.8003511C>G	CA397943744	GUCY2D	c.464C>G (p.Thr155Arg)
17	g.8003511C>T	CA287523249	GUCY2D	c.464C>T (p.Thr155Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003512G>A	CA497952827	GUCY2D	c.465G>A (p.Thr155=)	dbSNP gnomAD v3 gnomAD v4
17	g.8003512G>C	CA497952829	GUCY2D	c.465G>C (p.Thr155=)	gnomAD v4
17	g.8003512G=	CA2246053443	GUCY2D	c.465G= (p.Thr155=)
17	g.8003512G>T	CA497952828	GUCY2D	c.465G>T (p.Thr155=)	gnomAD v4
17	g.8003513C>A	CA397943750	GUCY2D	c.466C>A (p.Gln156Lys)
17	g.8003513C=	CA2246053446	GUCY2D	c.466C= (p.Gln156=)
17	g.8003513C>G	CA397943752	GUCY2D	c.466C>G (p.Gln156Glu)
17	g.8003513C>T	CA397943754	GUCY2D	c.466C>T (p.Gln156Ter)	dbSNP gnomAD v2
17	g.8003514A>C	CA397943760	GUCY2D	c.467A>C (p.Gln156Pro)
17	g.8003514A>G	CA397943762	GUCY2D	c.467A>G (p.Gln156Arg)
17	g.8003514A>T	CA397943757	GUCY2D	c.467A>T (p.Gln156Leu)
17	g.8003515G>A	CA497952832	GUCY2D	c.468G>A (p.Gln156=)	ClinVar gnomAD v4
17	g.8003515G>C	CA397943765	GUCY2D	c.468G>C (p.Gln156His)
17	g.8003515G>T	CA397943767	GUCY2D	c.468G>T (p.Gln156His)
17	g.8003516G>A	CA397943771	GUCY2D	c.469G>A (p.Ala157Thr)	gnomAD v4
17	g.8003516G>C	CA397943773	GUCY2D	c.469G>C (p.Ala157Pro)
17	g.8003516G>T	CA397943776	GUCY2D	c.469G>T (p.Ala157Ser)
17	g.8003517C>A	CA397943783	GUCY2D	c.470C>A (p.Ala157Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.8003517C=	CA2246053448	GUCY2D	c.470C= (p.Ala157=)
17	g.8003517C>G	CA397943779	GUCY2D	c.470C>G (p.Ala157Gly)
17	g.8003517C>T	CA397943781	GUCY2D	c.470C>T (p.Ala157Val)	gnomAD v4
17	g.8003518G>A	CA497952833	GUCY2D	c.471G>A (p.Ala157=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003518G>C	CA497952834	GUCY2D	c.471G>C (p.Ala157=)
17	g.8003518G=	CA2246053451	GUCY2D	c.471G= (p.Ala157=)
17	g.8003518G>T	CA497952835	GUCY2D	c.471G>T (p.Ala157=)
17	g.8003519G>A	CA397943785	GUCY2D	c.472G>A (p.Glu158Lys)
17	g.8003519G>C	CA397943787	GUCY2D	c.472G>C (p.Glu158Gln)
17	g.8003519G>T	CA397943789	GUCY2D	c.472G>T (p.Glu158Ter)
17	g.8003520A>C	CA397943792	GUCY2D	c.473A>C (p.Glu158Ala)
17	g.8003520A>G	CA397943794	GUCY2D	c.473A>G (p.Glu158Gly)	gnomAD v4
17	g.8003520A>T	CA397943796	GUCY2D	c.473A>T (p.Glu158Val)
17	g.8003521G>A	CA497952838	GUCY2D	c.474G>A (p.Glu158=)	dbSNP gnomAD v4
17	g.8003521G>C	CA397943801	GUCY2D	c.474G>C (p.Glu158Asp)
17	g.8003521G=	CA2246053453	GUCY2D	c.474G= (p.Glu158=)
17	g.8003521G>T	CA397943798	GUCY2D	c.474G>T (p.Glu158Asp)
17	g.8003523_8003531del	CA2635949992	GUCY2D	c.476_484del (p.Gly159_Thr161del)	gnomAD v4
17	g.8003522G>A	CA397943804	GUCY2D	c.475G>A (p.Gly159Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003522G>C	CA397943806	GUCY2D	c.475G>C (p.Gly159Arg)
17	g.8003522G=	CA2246053455	GUCY2D	c.475G= (p.Gly159=)
17	g.8003522G>T	CA397943808	GUCY2D	c.475G>T (p.Gly159Cys)	gnomAD v4
17	g.8003523G>A	CA397943812	GUCY2D	c.476G>A (p.Gly159Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.8003523G>C	CA397943813	GUCY2D	c.476G>C (p.Gly159Ala)
17	g.8003523G=	CA2246053456	GUCY2D	c.476G= (p.Gly159=)
17	g.8003523G>T	CA397943816	GUCY2D	c.476G>T (p.Gly159Val)	gnomAD v4
17	g.8003524C>A	CA497952840	GUCY2D	c.477C>A (p.Gly159=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003524C=	CA2246053458	GUCY2D	c.477C= (p.Gly159=)
17	g.8003524C>G	CA497952842	GUCY2D	c.477C>G (p.Gly159=)
17	g.8003524C>T	CA497952843	GUCY2D	c.477C>T (p.Gly159=)	gnomAD v4
17	g.8003525del	CA2808381498	GUCY2D	c.478del (p.Thr160ProfsTer6)
17	g.8003525A>C	CA397943824	GUCY2D	c.478A>C (p.Thr160Pro)
17	g.8003525A>G	CA397943821	GUCY2D	c.478A>G (p.Thr160Ala)
17	g.8003525A>T	CA397943820	GUCY2D	c.478A>T (p.Thr160Ser)
17	g.8003526C>A	CA397943828	GUCY2D	c.479C>A (p.Thr160Asn)
17	g.8003526C=	CA2246053461	GUCY2D	c.479C= (p.Thr160=)
17	g.8003526C>G	CA397943830	GUCY2D	c.479C>G (p.Thr160Ser)
17	g.8003526C>T	CA8365497	GUCY2D	c.479C>T (p.Thr160Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003527C>A	CA497952845	GUCY2D	c.480C>A (p.Thr160=)	gnomAD v4
17	g.8003527C>G	CA497952847	GUCY2D	c.480C>G (p.Thr160=)
17	g.8003527C>T	CA497952846	GUCY2D	c.480C>T (p.Thr160=)
17	g.8003528A>C	CA397943833	GUCY2D	c.481A>C (p.Thr161Pro)	dbSNP
17	g.8003528A>G	CA397943836	GUCY2D	c.481A>G (p.Thr161Ala)
17	g.8003528A>T	CA397943838	GUCY2D	c.481A>T (p.Thr161Ser)
17	g.8003529C>A	CA397943846	GUCY2D	c.482C>A (p.Thr161Lys)	gnomAD v4
17	g.8003529C=	CA2246053463	GUCY2D	c.482C= (p.Thr161=)
17	g.8003529C>G	CA397943842	GUCY2D	c.482C>G (p.Thr161Arg)
17	g.8003529C>T	CA397943844	GUCY2D	c.482C>T (p.Thr161Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003530G>A	CA8365498	GUCY2D	c.483G>A (p.Thr161=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003530G>C	CA497952848	GUCY2D	c.483G>C (p.Thr161=)	gnomAD v4
17	g.8003530G=	CA2246053465	GUCY2D	c.483G= (p.Thr161=)
17	g.8003530G>T	CA497952849	GUCY2D	c.483G>T (p.Thr161=)
17	g.8003531dup	CA2499224987	GUCY2D	c.484dup (p.Ala162GlyfsTer?)	ClinVar dbSNP
17	g.8003531G>A	CA287523263	GUCY2D	c.484G>A (p.Ala162Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.8003531G>C	CA397943852	GUCY2D	c.484G>C (p.Ala162Pro)
17	g.8003531G=	CA2246053467	GUCY2D	c.484G= (p.Ala162=)
17	g.8003531G>T	CA397943854	GUCY2D	c.484G>T (p.Ala162Ser)	gnomAD v4
17	g.8003532C>A	CA397943857	GUCY2D	c.485C>A (p.Ala162Asp)	ClinVar gnomAD v4
17	g.8003532C>G	CA397943860	GUCY2D	c.485C>G (p.Ala162Gly)
17	g.8003532C>T	CA397943862	GUCY2D	c.485C>T (p.Ala162Val)
17	g.8003535del	CA2635950036	GUCY2D	c.488del (p.Pro163LeufsTer3)	gnomAD v4
17	g.8003533C>A	CA497952850	GUCY2D	c.486C>A (p.Ala162=)
17	g.8003533C>G	CA497952853	GUCY2D	c.486C>G (p.Ala162=)
17	g.8003533C>T	CA497952851	GUCY2D	c.486C>T (p.Ala162=)	gnomAD v4
17	g.8003534C>A	CA397943865	GUCY2D	c.487C>A (p.Pro163Thr)	gnomAD v4
17	g.8003534C>G	CA397943867	GUCY2D	c.487C>G (p.Pro163Ala)
17	g.8003534C>T	CA397943869	GUCY2D	c.487C>T (p.Pro163Ser)	gnomAD v4
17	g.8003535C>A	CA397943873	GUCY2D	c.488C>A (p.Pro163His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003535C=	CA2246053469	GUCY2D	c.488C= (p.Pro163=)
17	g.8003535C>G	CA397943875	GUCY2D	c.488C>G (p.Pro163Arg)	gnomAD v4
17	g.8003535C>T	CA8365499	GUCY2D	c.488C>T (p.Pro163Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003536T>A	CA497952856	GUCY2D	c.489T>A (p.Pro163=)
17	g.8003536T>C	CA497952857	GUCY2D	c.489T>C (p.Pro163=)	gnomAD v4
17	g.8003536T>G	CA497952858	GUCY2D	c.489T>G (p.Pro163=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003536T=	CA2246053471	GUCY2D	c.489T= (p.Pro163=)
17	g.8003537G>A	CA287523272	GUCY2D	c.490G>A (p.Ala164Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003537G>C	CA397943882	GUCY2D	c.490G>C (p.Ala164Pro)
17	g.8003537G=	CA2246053474	GUCY2D	c.490G= (p.Ala164=)
17	g.8003537G>T	CA397943880	GUCY2D	c.490G>T (p.Ala164Ser)
17	g.8003537_8003538insACGTGACCCCCG	CA624867831	GUCY2D	c.490_491insACGTGACCCCCG (p.Pro163_Ala164insAspValThrPro)	dbSNP gnomAD v2
17	g.8003538C>A	CA397943885	GUCY2D	c.491C>A (p.Ala164Asp)	gnomAD v4
17	g.8003538C>G	CA397943886	GUCY2D	c.491C>G (p.Ala164Gly)
17	g.8003538C>T	CA397943888	GUCY2D	c.491C>T (p.Ala164Val)	gnomAD v4
17	g.8003539C>A	CA497952860	GUCY2D	c.492C>A (p.Ala164=)
17	g.8003539C=	CA2246053476	GUCY2D	c.492C= (p.Ala164=)
17	g.8003539C>G	CA497952861	GUCY2D	c.492C>G (p.Ala164=)	ClinVar gnomAD v4
17	g.8003539C>T	CA8365500	GUCY2D	c.492C>T (p.Ala164=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003540G>A	CA397943893	GUCY2D	c.493G>A (p.Val165Met)	gnomAD v4
17	g.8003540G>C	CA397943895	GUCY2D	c.493G>C (p.Val165Leu)
17	g.8003540G>T	CA397943897	GUCY2D	c.493G>T (p.Val165Leu)	gnomAD v4
17	g.8003541T>A	CA397943900	GUCY2D	c.494T>A (p.Val165Glu)
17	g.8003541T>C	CA397943903	GUCY2D	c.494T>C (p.Val165Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.8003541T>G	CA397943905	GUCY2D	c.494T>G (p.Val165Gly)
17	g.8003541T=	CA2246053478	GUCY2D	c.494T= (p.Val165=)
17	g.8003541dup	CA2635950102	GUCY2D	c.494dup (p.Thr166AspfsTer?)	gnomAD v4
17	g.8003542G>A	CA497952864	GUCY2D	c.495G>A (p.Val165=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003542G>C	CA497952862	GUCY2D	c.495G>C (p.Val165=)
17	g.8003542G=	CA2246053481	GUCY2D	c.495G= (p.Val165=)
17	g.8003542G>T	CA497952863	GUCY2D	c.495G>T (p.Val165=)
17	g.8003543_8003554dup	CA624867832	GUCY2D	c.496_507dup (p.Ala169_Asp170insThrProAlaAla)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003543A>C	CA397943907	GUCY2D	c.496A>C (p.Thr166Pro)
17	g.8003543A>G	CA397943908	GUCY2D	c.496A>G (p.Thr166Ala)	gnomAD v4
17	g.8003543A>T	CA397943910	GUCY2D	c.496A>T (p.Thr166Ser)
17	g.8003543_8003544delinsAC	CA2246053483	GUCY2D	c.496_497delinsAC (p.Thr166=)
17	g.8003544C>A	CA397943916	GUCY2D	c.497C>A (p.Thr166Asn)	gnomAD v4
17	g.8003544C=	CA2246053486	GUCY2D	c.497C= (p.Thr166=)
17	g.8003544C>G	CA397943912	GUCY2D	c.497C>G (p.Thr166Ser)
17	g.8003544C>T	CA397943914	GUCY2D	c.497C>T (p.Thr166Ile)	dbSNP
17	g.8003548dup	CA2635950129	GUCY2D	c.501dup (p.Ala168ArgfsTer?)	gnomAD v4
17	g.8003548del	CA1139664109	GUCY2D	c.501del (p.Ala168ProfsTer?)	ClinVar dbSNP gnomAD v4
17	g.8003545C>A	CA497952866	GUCY2D	c.498C>A (p.Thr166=)	gnomAD v4
17	g.8003545C>G	CA497952867	GUCY2D	c.498C>G (p.Thr166=)	gnomAD v4
17	g.8003545C>T	CA497952868	GUCY2D	c.498C>T (p.Thr166=)	gnomAD v4
17	g.8003546C>A	CA397943919	GUCY2D	c.499C>A (p.Pro167Thr)	gnomAD v4
17	g.8003546C=	CA2246053488	GUCY2D	c.499C= (p.Pro167=)
17	g.8003546C>G	CA397943921	GUCY2D	c.499C>G (p.Pro167Ala)
17	g.8003546C>T	CA287523289	GUCY2D	c.499C>T (p.Pro167Ser)	dbSNP gnomAD v2
17	g.8003547C>A	CA397943926	GUCY2D	c.500C>A (p.Pro167His)	gnomAD v4
17	g.8003547C>G	CA397943928	GUCY2D	c.500C>G (p.Pro167Arg)
17	g.8003547C>T	CA397943930	GUCY2D	c.500C>T (p.Pro167Leu)	gnomAD v4
17	g.8003548C>A	CA497952872	GUCY2D	c.501C>A (p.Pro167=)	gnomAD v4
17	g.8003548C=	CA2246053490	GUCY2D	c.501C= (p.Pro167=)
17	g.8003548C>G	CA497952874	GUCY2D	c.501C>G (p.Pro167=)
17	g.8003548C>T	CA497952873	GUCY2D	c.501C>T (p.Pro167=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003549G>A	CA8365501	GUCY2D	c.502G>A (p.Ala168Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003549G>C	CA397943935	GUCY2D	c.502G>C (p.Ala168Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.8003549G=	CA2246053492	GUCY2D	c.502G= (p.Ala168=)
17	g.8003549G>T	CA397943937	GUCY2D	c.502G>T (p.Ala168Ser)	gnomAD v4
17	g.8003550C>A	CA397943940	GUCY2D	c.503C>A (p.Ala168Asp)	gnomAD v4
17	g.8003550C>G	CA397943942	GUCY2D	c.503C>G (p.Ala168Gly)
17	g.8003550C>T	CA397943943	GUCY2D	c.503C>T (p.Ala168Val)	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

Number of alleles fetched