Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
17	g.8003652C>A	CA397944451	GUCY2D	c.605C>A (p.Ser202Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.8003652C=	CA2246053628	GUCY2D	c.605C= (p.Ser202=)
17	g.8003652C>G	CA397944455	GUCY2D	c.605C>G (p.Ser202Cys)
17	g.8003652C>T	CA397944453	GUCY2D	c.605C>T (p.Ser202Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003653C>A	CA497953032	GUCY2D	c.606C>A (p.Ser202=)	gnomAD v4
17	g.8003653C=	CA2246053630	GUCY2D	c.606C= (p.Ser202=)
17	g.8003653C>G	CA497953033	GUCY2D	c.606C>G (p.Ser202=)
17	g.8003653C>T	CA497953034	GUCY2D	c.606C>T (p.Ser202=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003654A=	CA2246053632	GUCY2D	c.607A= (p.Thr203=)
17	g.8003654A>C	CA397944458	GUCY2D	c.607A>C (p.Thr203Pro)
17	g.8003654A>G	CA397944460	GUCY2D	c.607A>G (p.Thr203Ala)	gnomAD v4 COSMIC
17	g.8003654A>T	CA397944462	GUCY2D	c.607A>T (p.Thr203Ser)	ClinVar dbSNP
17	g.8003655C>A	CA397944465	GUCY2D	c.608C>A (p.Thr203Lys)	gnomAD v4
17	g.8003655C=	CA2246053633	GUCY2D	c.608C= (p.Thr203=)
17	g.8003655C>G	CA397944467	GUCY2D	c.608C>G (p.Thr203Arg)
17	g.8003655C>T	CA397944469	GUCY2D	c.608C>T (p.Thr203Met)	ClinVar dbSNP gnomAD v4
17	g.8003656G>A	CA8365518	GUCY2D	c.609G>A (p.Thr203=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003656G>C	CA497953038	GUCY2D	c.609G>C (p.Thr203=)
17	g.8003656G=	CA2246053635	GUCY2D	c.609G= (p.Thr203=)
17	g.8003656G>T	CA497953040	GUCY2D	c.609G>T (p.Thr203=)	dbSNP gnomAD v4
17	g.8003657G>A	CA397944475	GUCY2D	c.610G>A (p.Ala204Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003657G>C	CA397944477	GUCY2D	c.610G>C (p.Ala204Pro)
17	g.8003657G=	CA2246053638	GUCY2D	c.610G= (p.Ala204=)
17	g.8003657G>T	CA397944479	GUCY2D	c.610G>T (p.Ala204Ser)	gnomAD v4
17	g.8003658C>A	CA397944482	GUCY2D	c.611C>A (p.Ala204Glu)
17	g.8003658C=	CA2246053639	GUCY2D	c.611C= (p.Ala204=)
17	g.8003658C>G	CA397944484	GUCY2D	c.611C>G (p.Ala204Gly)
17	g.8003658C>T	CA397944486	GUCY2D	c.611C>T (p.Ala204Val)	dbSNP gnomAD v3 gnomAD v4
17	g.8003659A=	CA2246053641	GUCY2D	c.612A= (p.Ala204=)
17	g.8003659A>C	CA497953046	GUCY2D	c.612A>C (p.Ala204=)
17	g.8003659A>G	CA497953047	GUCY2D	c.612A>G (p.Ala204=)	dbSNP gnomAD v4
17	g.8003659A>T	CA497953048	GUCY2D	c.612A>T (p.Ala204=)
17	g.8003660C>A	CA397944493	GUCY2D	c.613C>A (p.Leu205Ile)
17	g.8003660C=	CA2246053643	GUCY2D	c.613C= (p.Leu205=)
17	g.8003660C>G	CA397944489	GUCY2D	c.613C>G (p.Leu205Val)
17	g.8003660C>T	CA8365519	GUCY2D	c.613C>T (p.Leu205Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003661T>A	CA397944496	GUCY2D	c.614T>A (p.Leu205His)
17	g.8003661T>C	CA397944498	GUCY2D	c.614T>C (p.Leu205Pro)	gnomAD v4
17	g.8003661T>G	CA397944500	GUCY2D	c.614T>G (p.Leu205Arg)
17	g.8003662C>A	CA8365520	GUCY2D	c.615C>A (p.Leu205=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003662C=	CA2246053645	GUCY2D	c.615C= (p.Leu205=)
17	g.8003662C>G	CA497953053	GUCY2D	c.615C>G (p.Leu205=)
17	g.8003662C>T	CA497953055	GUCY2D	c.615C>T (p.Leu205=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003663A>C	CA497953057	GUCY2D	c.616A>C (p.Arg206=)
17	g.8003663A>G	CA397944505	GUCY2D	c.616A>G (p.Arg206Gly)	gnomAD v4
17	g.8003663A>T	CA397944507	GUCY2D	c.616A>T (p.Arg206Trp)
17	g.8003664G>A	CA397944510	GUCY2D	c.617G>A (p.Arg206Lys)
17	g.8003664G>C	CA397944512	GUCY2D	c.617G>C (p.Arg206Thr)	gnomAD v4
17	g.8003664G>T	CA397944514	GUCY2D	c.617G>T (p.Arg206Met)	gnomAD v4
17	g.8003665G>A	CA497953063	GUCY2D	c.618G>A (p.Arg206=)	ClinVar
17	g.8003665G>C	CA397944517	GUCY2D	c.618G>C (p.Arg206Ser)
17	g.8003665G>T	CA397944519	GUCY2D	c.618G>T (p.Arg206Ser)	gnomAD v4
17	g.8003666G>A	CA397944522	GUCY2D	c.619G>A (p.Ala207Thr)	gnomAD v4
17	g.8003666G>C	CA397944527	GUCY2D	c.619G>C (p.Ala207Pro)
17	g.8003666G>T	CA397944525	GUCY2D	c.619G>T (p.Ala207Ser)	gnomAD v4
17	g.8003666_8003667delinsGC	CA2246053648	GUCY2D	c.619_620delinsGC (p.Ala207=)
17	g.8003667C>A	CA397944530	GUCY2D	c.620C>A (p.Ala207Asp)
17	g.8003667C>G	CA397944533	GUCY2D	c.620C>G (p.Ala207Gly)
17	g.8003667C>T	CA397944535	GUCY2D	c.620C>T (p.Ala207Val)	gnomAD v4
17	g.8003669del	CA226151	GUCY2D	c.622del (p.Arg208GlyfsTer8)	ClinVar dbSNP
17	g.8003668C>A	CA497953073	GUCY2D	c.621C>A (p.Ala207=)
17	g.8003668C=	CA2246053652	GUCY2D	c.621C= (p.Ala207=)
17	g.8003668C>G	CA497953071	GUCY2D	c.621C>G (p.Ala207=)
17	g.8003668C>T	CA8365521	GUCY2D	c.621C>T (p.Ala207=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003669C>A	CA497953074	GUCY2D	c.622C>A (p.Arg208=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003669C=	CA2246053655	GUCY2D	c.622C= (p.Arg208=)
17	g.8003669C>G	CA397944542	GUCY2D	c.622C>G (p.Arg208Gly)
17	g.8003669C>T	CA397944544	GUCY2D	c.622C>T (p.Arg208Trp)	gnomAD v4
17	g.8003670G>A	CA397944547	GUCY2D	c.623G>A (p.Arg208Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003670G>C	CA397944549	GUCY2D	c.623G>C (p.Arg208Pro)	gnomAD v4
17	g.8003670G=	CA2246053657	GUCY2D	c.623G= (p.Arg208=)
17	g.8003670G>T	CA8365522	GUCY2D	c.623G>T (p.Arg208Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003673del	CA2635950743	GUCY2D	c.626del (p.Gly209AlafsTer7)	gnomAD v4
17	g.8003671G>A	CA497953081	GUCY2D	c.624G>A (p.Arg208=)	ClinVar gnomAD v4 COSMIC
17	g.8003671G>C	CA497953082	GUCY2D	c.624G>C (p.Arg208=)
17	g.8003671G>T	CA497953084	GUCY2D	c.624G>T (p.Arg208=)
17	g.8003672G>A	CA397944553	GUCY2D	c.625G>A (p.Gly209Ser)
17	g.8003672G>C	CA397944555	GUCY2D	c.625G>C (p.Gly209Arg)
17	g.8003672G>T	CA397944558	GUCY2D	c.625G>T (p.Gly209Cys)	gnomAD v4
17	g.8003673G>A	CA287523387	GUCY2D	c.626G>A (p.Gly209Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003673G>C	CA397944561	GUCY2D	c.626G>C (p.Gly209Ala)
17	g.8003673G=	CA2246053659	GUCY2D	c.626G= (p.Gly209=)
17	g.8003673G>T	CA397944563	GUCY2D	c.626G>T (p.Gly209Val)	gnomAD v4
17	g.8003677_8003687del	CA2695224292	GUCY2D	c.630_640del (p.Pro211ArgfsTer?)
17	g.8003674C>A	CA497953093	GUCY2D	c.627C>A (p.Gly209=)
17	g.8003674C=	CA2246053661	GUCY2D	c.627C= (p.Gly209=)
17	g.8003674C>G	CA497953096	GUCY2D	c.627C>G (p.Gly209=)	dbSNP gnomAD v3 gnomAD v4
17	g.8003674C>T	CA497953095	GUCY2D	c.627C>T (p.Gly209=)
17	g.8003675C>A	CA397944567	GUCY2D	c.628C>A (p.Leu210Met)
17	g.8003675C>G	CA397944570	GUCY2D	c.628C>G (p.Leu210Val)
17	g.8003675C>T	CA497953100	GUCY2D	c.628C>T (p.Leu210=)	ClinVar gnomAD v4
17	g.8003676T>A	CA397944573	GUCY2D	c.629T>A (p.Leu210Gln)
17	g.8003676T>C	CA397944574	GUCY2D	c.629T>C (p.Leu210Pro)
17	g.8003676T>G	CA397944576	GUCY2D	c.629T>G (p.Leu210Arg)
17	g.8003677G>A	CA8365523	GUCY2D	c.630G>A (p.Leu210=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003677G>C	CA497953043	GUCY2D	c.630G>C (p.Leu210=)
17	g.8003677G=	CA2246053663	GUCY2D	c.630G= (p.Leu210=)
17	g.8003677G>T	CA497953045	GUCY2D	c.630G>T (p.Leu210=)	gnomAD v4
17	g.8003678C>A	CA397944582	GUCY2D	c.631C>A (p.Pro211Thr)	gnomAD v4
17	g.8003678C>G	CA397944584	GUCY2D	c.631C>G (p.Pro211Ala)
17	g.8003678C>T	CA397944586	GUCY2D	c.631C>T (p.Pro211Ser)	gnomAD v4
17	g.8003679C>A	CA397944588	GUCY2D	c.632C>A (p.Pro211His)	gnomAD v4
17	g.8003679C>G	CA397944590	GUCY2D	c.632C>G (p.Pro211Arg)
17	g.8003679C>T	CA397944591	GUCY2D	c.632C>T (p.Pro211Leu)	gnomAD v4
17	g.8003680T>A	CA497953056	GUCY2D	c.633T>A (p.Pro211=)
17	g.8003680T>C	CA497953058	GUCY2D	c.633T>C (p.Pro211=)
17	g.8003680T>G	CA497953059	GUCY2D	c.633T>G (p.Pro211=)
17	g.8003681del	CA2635950772	GUCY2D	c.634del (p.Val212SerfsTer4)	gnomAD v4
17	g.8003681G>A	CA397944593	GUCY2D	c.634G>A (p.Val212Ile)	gnomAD v4
17	g.8003681G>C	CA397944596	GUCY2D	c.634G>C (p.Val212Leu)
17	g.8003681G>T	CA397944594	GUCY2D	c.634G>T (p.Val212Phe)	gnomAD v4
17	g.8003682T>A	CA397944599	GUCY2D	c.635T>A (p.Val212Asp)	dbSNP gnomAD v4
17	g.8003682T>C	CA397944600	GUCY2D	c.635T>C (p.Val212Ala)
17	g.8003682T>G	CA397944602	GUCY2D	c.635T>G (p.Val212Gly)
17	g.8003682T=	CA2246053665	GUCY2D	c.635T= (p.Val212=)
17	g.8003683C>A	CA497953068	GUCY2D	c.636C>A (p.Val212=)
17	g.8003683C=	CA2246053667	GUCY2D	c.636C= (p.Val212=)
17	g.8003683C>G	CA497953069	GUCY2D	c.636C>G (p.Val212=)
17	g.8003683C>T	CA497953072	GUCY2D	c.636C>T (p.Val212=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8003684G>A	CA397944604	GUCY2D	c.637G>A (p.Ala213Thr)	gnomAD v4
17	g.8003684G>C	CA397944606	GUCY2D	c.637G>C (p.Ala213Pro)
17	g.8003684G>T	CA397944608	GUCY2D	c.637G>T (p.Ala213Ser)	gnomAD v4
17	g.8003685C>A	CA397944611	GUCY2D	c.638C>A (p.Ala213Asp)	gnomAD v4
17	g.8003685C>G	CA397944613	GUCY2D	c.638C>G (p.Ala213Gly)
17	g.8003685C>T	CA397944615	GUCY2D	c.638C>T (p.Ala213Val)
17	g.8003686C>A	CA497953083	GUCY2D	c.639C>A (p.Ala213=)
17	g.8003686C>G	CA497953085	GUCY2D	c.639C>G (p.Ala213=)
17	g.8003686C>T	CA497953088	GUCY2D	c.639C>T (p.Ala213=)	gnomAD v4
17	g.8003687T>A	CA397944618	GUCY2D	c.640T>A (p.Ser214Thr)
17	g.8003687T>C	CA397944620	GUCY2D	c.640T>C (p.Ser214Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.8003687T>G	CA397944622	GUCY2D	c.640T>G (p.Ser214Ala)
17	g.8003687T=	CA2246053669	GUCY2D	c.640T= (p.Ser214=)
17	g.8003688C>A	CA397944629	GUCY2D	c.641C>A (p.Ser214Tyr)	gnomAD v4
17	g.8003688C=	CA2246053671	GUCY2D	c.641C= (p.Ser214=)
17	g.8003688C>G	CA397944625	GUCY2D	c.641C>G (p.Ser214Cys)
17	g.8003688C>T	CA397944627	GUCY2D	c.641C>T (p.Ser214Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.8003689C>A	CA497953104	GUCY2D	c.642C>A (p.Ser214=)	gnomAD v4 COSMIC
17	g.8003689C=	CA2246053674	GUCY2D	c.642C= (p.Ser214=)
17	g.8003689C>G	CA8365525	GUCY2D	c.642C>G (p.Ser214=)	ClinVar dbSNP ExAC gnomAD v2
17	g.8003689C>T	CA8365524	GUCY2D	c.642C>T (p.Ser214=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003690G>A	CA397944635	GUCY2D	c.643G>A (p.Val215Met)
17	g.8003690G>C	CA397944637	GUCY2D	c.643G>C (p.Val215Leu)
17	g.8003690G>T	CA397944639	GUCY2D	c.643G>T (p.Val215Leu)	gnomAD v4
17	g.8003691T>A	CA397944643	GUCY2D	c.644T>A (p.Val215Glu)
17	g.8003691T>C	CA397944645	GUCY2D	c.644T>C (p.Val215Ala)	gnomAD v4
17	g.8003691T>G	CA397944647	GUCY2D	c.644T>G (p.Val215Gly)
17	g.8003692G>A	CA497953114	GUCY2D	c.645G>A (p.Val215=)
17	g.8003692G>C	CA497953113	GUCY2D	c.645G>C (p.Val215=)
17	g.8003692G>T	CA497953112	GUCY2D	c.645G>T (p.Val215=)	gnomAD v4
17	g.8003693A=	CA2246053677	GUCY2D	c.646A= (p.Thr216=)
17	g.8003693A>C	CA397944650	GUCY2D	c.646A>C (p.Thr216Pro)
17	g.8003693A>G	CA397944652	GUCY2D	c.646A>G (p.Thr216Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003693A>T	CA397944654	GUCY2D	c.646A>T (p.Thr216Ser)
17	g.8003694C>A	CA397944659	GUCY2D	c.647C>A (p.Thr216Asn)
17	g.8003694C=	CA2246053678	GUCY2D	c.647C= (p.Thr216=)
17	g.8003694C>G	CA397944661	GUCY2D	c.647C>G (p.Thr216Ser)	gnomAD v4
17	g.8003694C>T	CA8365526	GUCY2D	c.647C>T (p.Thr216Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003695T>A	CA497953120	GUCY2D	c.648T>A (p.Thr216=)
17	g.8003695T>C	CA497953122	GUCY2D	c.648T>C (p.Thr216=)
17	g.8003695T>G	CA497953124	GUCY2D	c.648T>G (p.Thr216=)
17	g.8003696del	CA2635950808	GUCY2D	c.649del (p.Ser217ProfsTer14)	gnomAD v4
17	g.8003696T>A	CA397944667	GUCY2D	c.649T>A (p.Ser217Thr)
17	g.8003696T>C	CA397944665	GUCY2D	c.649T>C (p.Ser217Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.8003696T>G	CA397944669	GUCY2D	c.649T>G (p.Ser217Ala)
17	g.8003696T=	CA2246053680	GUCY2D	c.649T= (p.Ser217=)
17	g.8003697C>A	CA397944671	GUCY2D	c.650C>A (p.Ser217Tyr)
17	g.8003697C=	CA2246053682	GUCY2D	c.650C= (p.Ser217=)
17	g.8003697C>G	CA397944674	GUCY2D	c.650C>G (p.Ser217Cys)
17	g.8003697C>T	CA287523392	GUCY2D	c.650C>T (p.Ser217Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003698C>A	CA497953131	GUCY2D	c.651C>A (p.Ser217=)
17	g.8003698C=	CA2246053684	GUCY2D	c.651C= (p.Ser217=)
17	g.8003698C>G	CA497953134	GUCY2D	c.651C>G (p.Ser217=)
17	g.8003698C>T	CA8365527	GUCY2D	c.651C>T (p.Ser217=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003699A=	CA2246053687	GUCY2D	c.652A= (p.Met218=)
17	g.8003699A>C	CA397944680	GUCY2D	c.652A>C (p.Met218Leu)
17	g.8003699A>G	CA8365528	GUCY2D	c.652A>G (p.Met218Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003699A>T	CA397944683	GUCY2D	c.652A>T (p.Met218Leu)
17	g.8003699_8003718delinsATGGAGCCCTTGGACCTGTC	CA2246053688	GUCY2D	c.652_671delinsATGGAGCCCTTGGACCTGTC (p.Met218=)
17	g.8003700T>A	CA397944686	GUCY2D	c.653T>A (p.Met218Lys)
17	g.8003700T>C	CA397944687	GUCY2D	c.653T>C (p.Met218Thr)
17	g.8003700T>G	CA397944688	GUCY2D	c.653T>G (p.Met218Arg)
17	g.8003708_8003726del	CA775505594	GUCY2D	c.661_679del (p.Leu221GlyfsTer4)	dbSNP
17	g.8003701G>A	CA8365529	GUCY2D	c.654G>A (p.Met218Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003701G>C	CA397944689	GUCY2D	c.654G>C (p.Met218Ile)
17	g.8003701G=	CA2246053691	GUCY2D	c.654G= (p.Met218=)
17	g.8003701G>T	CA397944690	GUCY2D	c.654G>T (p.Met218Ile)	gnomAD v4
17	g.8003702del	CA2733193922	GUCY2D	c.655del (p.Glu219SerfsTer12)	dbSNP
17	g.8003702G>A	CA397944691	GUCY2D	c.655G>A (p.Glu219Lys)
17	g.8003702G>C	CA397944693	GUCY2D	c.655G>C (p.Glu219Gln)
17	g.8003702G>T	CA397944692	GUCY2D	c.655G>T (p.Glu219Ter)	gnomAD v4
17	g.8003703A>C	CA397944694	GUCY2D	c.656A>C (p.Glu219Ala)
17	g.8003703A>G	CA397944695	GUCY2D	c.656A>G (p.Glu219Gly)
17	g.8003703A>T	CA397944696	GUCY2D	c.656A>T (p.Glu219Val)
17	g.8003704G>A	CA497953148	GUCY2D	c.657G>A (p.Glu219=)
17	g.8003704G>C	CA397944698	GUCY2D	c.657G>C (p.Glu219Asp)
17	g.8003704G>T	CA397944699	GUCY2D	c.657G>T (p.Glu219Asp)	gnomAD v4
17	g.8003705C>A	CA397944700	GUCY2D	c.658C>A (p.Pro220Thr)	dbSNP
17	g.8003705C=	CA2246053693	GUCY2D	c.658C= (p.Pro220=)
17	g.8003705C>G	CA397944701	GUCY2D	c.658C>G (p.Pro220Ala)
17	g.8003705C>T	CA397944702	GUCY2D	c.658C>T (p.Pro220Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.8003706C>A	CA397944703	GUCY2D	c.659C>A (p.Pro220His)
17	g.8003706C=	CA2246053695	GUCY2D	c.659C= (p.Pro220=)
17	g.8003706C>G	CA397944704	GUCY2D	c.659C>G (p.Pro220Arg)
17	g.8003706C>T	CA8365530	GUCY2D	c.659C>T (p.Pro220Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003707C>A	CA497953162	GUCY2D	c.660C>A (p.Pro220=)
17	g.8003707C>G	CA497953161	GUCY2D	c.660C>G (p.Pro220=)
17	g.8003707C>T	CA497953159	GUCY2D	c.660C>T (p.Pro220=)	ClinVar gnomAD v4
17	g.8003708T>A	CA397944705	GUCY2D	c.661T>A (p.Leu221Met)
17	g.8003708T>C	CA497953164	GUCY2D	c.661T>C (p.Leu221=)	gnomAD v4
17	g.8003708T>G	CA397944706	GUCY2D	c.661T>G (p.Leu221Val)
17	g.8003709T>A	CA397944707	GUCY2D	c.662T>A (p.Leu221Ter)	gnomAD v4
17	g.8003709T>C	CA397944708	GUCY2D	c.662T>C (p.Leu221Ser)
17	g.8003709T>G	CA397944709	GUCY2D	c.662T>G (p.Leu221Trp)
17	g.8003710G>A	CA497953169	GUCY2D	c.663G>A (p.Leu221=)
17	g.8003710G>C	CA397944710	GUCY2D	c.663G>C (p.Leu221Phe)	gnomAD v4
17	g.8003710G>T	CA397944711	GUCY2D	c.663G>T (p.Leu221Phe)	gnomAD v4
17	g.8003711G>A	CA397944712	GUCY2D	c.664G>A (p.Asp222Asn)
17	g.8003711G>C	CA397944713	GUCY2D	c.664G>C (p.Asp222His)
17	g.8003711G>T	CA397944714	GUCY2D	c.664G>T (p.Asp222Tyr)	gnomAD v4
17	g.8003712A>C	CA397944715	GUCY2D	c.665A>C (p.Asp222Ala)
17	g.8003712A>G	CA397944716	GUCY2D	c.665A>G (p.Asp222Gly)
17	g.8003712A>T	CA397944717	GUCY2D	c.665A>T (p.Asp222Val)
17	g.8003713C>A	CA397944718	GUCY2D	c.666C>A (p.Asp222Glu)
17	g.8003713C>G	CA397944719	GUCY2D	c.666C>G (p.Asp222Glu)
17	g.8003713C>T	CA497953181	GUCY2D	c.666C>T (p.Asp222=)
17	g.8003714C>A	CA397944721	GUCY2D	c.667C>A (p.Leu223Met)
17	g.8003714C=	CA2246053697	GUCY2D	c.667C= (p.Leu223=)
17	g.8003714C>G	CA397944720	GUCY2D	c.667C>G (p.Leu223Val)
17	g.8003714C>T	CA8365531	GUCY2D	c.667C>T (p.Leu223=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003715T>A	CA397944722	GUCY2D	c.668T>A (p.Leu223Gln)
17	g.8003715T>C	CA8365532	GUCY2D	c.668T>C (p.Leu223Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003715T>G	CA397944723	GUCY2D	c.668T>G (p.Leu223Arg)
17	g.8003715T=	CA2246053700	GUCY2D	c.668T= (p.Leu223=)
17	g.8003716G>A	CA497953187	GUCY2D	c.669G>A (p.Leu223=)
17	g.8003716G>C	CA497953188	GUCY2D	c.669G>C (p.Leu223=)
17	g.8003716G>T	CA497953191	GUCY2D	c.669G>T (p.Leu223=)	ClinVar gnomAD v4
17	g.8003717T>A	CA397944724	GUCY2D	c.670T>A (p.Ser224Thr)
17	g.8003717T>C	CA397944725	GUCY2D	c.670T>C (p.Ser224Pro)
17	g.8003717T>G	CA397944726	GUCY2D	c.670T>G (p.Ser224Ala)
17	g.8003718C>A	CA397944727	GUCY2D	c.671C>A (p.Ser224Tyr)
17	g.8003718C>G	CA397944728	GUCY2D	c.671C>G (p.Ser224Cys)	gnomAD v4
17	g.8003718C>T	CA397944730	GUCY2D	c.671C>T (p.Ser224Phe)	gnomAD v4
17	g.8003719T>A	CA497953197	GUCY2D	c.672T>A (p.Ser224=)
17	g.8003719T>C	CA497953199	GUCY2D	c.672T>C (p.Ser224=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003719T>G	CA497953200	GUCY2D	c.672T>G (p.Ser224=)
17	g.8003719T=	CA2246053702	GUCY2D	c.672T= (p.Ser224=)
17	g.8003720G>A	CA397944733	GUCY2D	c.673G>A (p.Gly225Arg)	gnomAD v4
17	g.8003720G>C	CA397944735	GUCY2D	c.673G>C (p.Gly225Arg)
17	g.8003720G>T	CA397944737	GUCY2D	c.673G>T (p.Gly225Ter)
17	g.8003721G>A	CA397944742	GUCY2D	c.674G>A (p.Gly225Glu)
17	g.8003721G>C	CA397944745	GUCY2D	c.674G>C (p.Gly225Ala)
17	g.8003721G>T	CA397944740	GUCY2D	c.674G>T (p.Gly225Val)
17	g.8003722A>C	CA497953212	GUCY2D	c.675A>C (p.Gly225=)
17	g.8003722A>G	CA497953215	GUCY2D	c.675A>G (p.Gly225=)
17	g.8003722A>T	CA497953216	GUCY2D	c.675A>T (p.Gly225=)
17	g.8003723del	CA2808381604	GUCY2D	c.676del (p.Ala226ProfsTer5)
17	g.8003723G>A	CA397944753	GUCY2D	c.676G>A (p.Ala226Thr)
17	g.8003723G>C	CA397944748	GUCY2D	c.676G>C (p.Ala226Pro)
17	g.8003723G>T	CA397944750	GUCY2D	c.676G>T (p.Ala226Ser)	gnomAD v4
17	g.8003724C>A	CA397944756	GUCY2D	c.677C>A (p.Ala226Asp)
17	g.8003724C>G	CA397944758	GUCY2D	c.677C>G (p.Ala226Gly)	gnomAD v4
17	g.8003724C>T	CA397944760	GUCY2D	c.677C>T (p.Ala226Val)
17	g.8003725C>A	CA497953222	GUCY2D	c.678C>A (p.Ala226=)	gnomAD v4
17	g.8003725C>G	CA497953224	GUCY2D	c.678C>G (p.Ala226=)
17	g.8003725C>T	CA497953226	GUCY2D	c.678C>T (p.Ala226=)	gnomAD v4
17	g.8003726C>A	CA497953228	GUCY2D	c.679C>A (p.Arg227=)	ClinVar dbSNP
17	g.8003726C=	CA2246053704	GUCY2D	c.679C= (p.Arg227=)
17	g.8003726C>G	CA397944761	GUCY2D	c.679C>G (p.Arg227Gly)
17	g.8003726C>T	CA397944762	GUCY2D	c.679C>T (p.Arg227Trp)	dbSNP gnomAD v2
17	g.8003727G>A	CA8365533	GUCY2D	c.680G>A (p.Arg227Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003727G>C	CA397944766	GUCY2D	c.680G>C (p.Arg227Pro)
17	g.8003727G=	CA2246053706	GUCY2D	c.680G= (p.Arg227=)
17	g.8003727G>T	CA397944768	GUCY2D	c.680G>T (p.Arg227Leu)
17	g.8003728G>A	CA497953238	GUCY2D	c.681G>A (p.Arg227=)	ClinVar
17	g.8003728G>C	CA497953237	GUCY2D	c.681G>C (p.Arg227=)
17	g.8003728G>T	CA497953236	GUCY2D	c.681G>T (p.Arg227=)	gnomAD v4
17	g.8003729G>A	CA397944771	GUCY2D	c.682G>A (p.Glu228Lys)
17	g.8003729G>C	CA397944773	GUCY2D	c.682G>C (p.Glu228Gln)
17	g.8003729G>T	CA397944775	GUCY2D	c.682G>T (p.Glu228Ter)
17	g.8003730A>C	CA397944782	GUCY2D	c.683A>C (p.Glu228Ala)
17	g.8003730A>G	CA397944778	GUCY2D	c.683A>G (p.Glu228Gly)
17	g.8003730A>T	CA397944780	GUCY2D	c.683A>T (p.Glu228Val)
17	g.8003731G>A	CA497953243	GUCY2D	c.684G>A (p.Glu228=)
17	g.8003731G>C	CA397944785	GUCY2D	c.684G>C (p.Glu228Asp)
17	g.8003731G>T	CA397944787	GUCY2D	c.684G>T (p.Glu228Asp)
17	g.8003732G>A	CA397944790	GUCY2D	c.685G>A (p.Ala229Thr)	dbSNP gnomAD v4
17	g.8003732G>C	CA397944792	GUCY2D	c.685G>C (p.Ala229Pro)
17	g.8003732G=	CA2246053707	GUCY2D	c.685G= (p.Ala229=)
17	g.8003732G>T	CA8365534	GUCY2D	c.685G>T (p.Ala229Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003733C>A	CA397944796	GUCY2D	c.686C>A (p.Ala229Asp)	gnomAD v4
17	g.8003733C>G	CA397944798	GUCY2D	c.686C>G (p.Ala229Gly)
17	g.8003733C>T	CA397944801	GUCY2D	c.686C>T (p.Ala229Val)	COSMIC
17	g.8003734C>A	CA497953255	GUCY2D	c.687C>A (p.Ala229=)
17	g.8003734C>G	CA497953256	GUCY2D	c.687C>G (p.Ala229=)
17	g.8003734C>T	CA497953257	GUCY2D	c.687C>T (p.Ala229=)
17	g.8003735C>A	CA397944803	GUCY2D	c.688C>A (p.Leu230Met)
17	g.8003735C>G	CA397944805	GUCY2D	c.688C>G (p.Leu230Val)	gnomAD v4
17	g.8003735C>T	CA497953259	GUCY2D	c.688C>T (p.Leu230=)
17	g.8003736T>A	CA397944809	GUCY2D	c.689T>A (p.Leu230Gln)
17	g.8003736T>C	CA397944810	GUCY2D	c.689T>C (p.Leu230Pro)
17	g.8003736T>G	CA397944812	GUCY2D	c.689T>G (p.Leu230Arg)
17	g.8003737G>A	CA497953263	GUCY2D	c.690G>A (p.Leu230=)
17	g.8003737G>C	CA497953265	GUCY2D	c.690G>C (p.Leu230=)
17	g.8003737G>T	CA497953268	GUCY2D	c.690G>T (p.Leu230=)
17	g.8003737_8003740del	CA2499224989	GUCY2D	c.690_693del (p.Lys232PhefsTer10)	ClinVar dbSNP
17	g.8003738A>C	CA497953270	GUCY2D	c.691A>C (p.Arg231=)
17	g.8003738A>G	CA397944815	GUCY2D	c.691A>G (p.Arg231Gly)
17	g.8003738A>T	CA397944817	GUCY2D	c.691A>T (p.Arg231Trp)
17	g.8003739G>A	CA397944820	GUCY2D	c.692G>A (p.Arg231Lys)	dbSNP gnomAD v2
17	g.8003739G>C	CA397944821	GUCY2D	c.692G>C (p.Arg231Thr)
17	g.8003739G=	CA2246053710	GUCY2D	c.692G= (p.Arg231=)
17	g.8003739G>T	CA397944824	GUCY2D	c.692G>T (p.Arg231Met)
17	g.8003740dup	CA2695224293	GUCY2D	c.693dup (p.Lys232GlufsTer?)
17	g.8003740G>A	CA497953277	GUCY2D	c.693G>A (p.Arg231=)
17	g.8003740G>C	CA397944826	GUCY2D	c.693G>C (p.Arg231Ser)
17	g.8003740G=	CA2246053711	GUCY2D	c.693G= (p.Arg231=)
17	g.8003740G>T	CA8365535	GUCY2D	c.693G>T (p.Arg231Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003741A>C	CA397944831	GUCY2D	c.694A>C (p.Lys232Gln)
17	g.8003741A>G	CA397944833	GUCY2D	c.694A>G (p.Lys232Glu)	gnomAD v4
17	g.8003741A>T	CA397944835	GUCY2D	c.694A>T (p.Lys232Ter)
17	g.8003742A>C	CA397944839	GUCY2D	c.695A>C (p.Lys232Thr)
17	g.8003742A>G	CA397944840	GUCY2D	c.695A>G (p.Lys232Arg)
17	g.8003742A>T	CA397944843	GUCY2D	c.695A>T (p.Lys232Met)
17	g.8003743G>A	CA497953292	GUCY2D	c.696G>A (p.Lys232=)
17	g.8003743G>C	CA397944846	GUCY2D	c.696G>C (p.Lys232Asn)
17	g.8003743G=	CA2246053714	GUCY2D	c.696G= (p.Lys232=)
17	g.8003743G>T	CA8365536	GUCY2D	c.696G>T (p.Lys232Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003744G>A	CA397944852	GUCY2D	c.697G>A (p.Val233Ile)
17	g.8003744G>C	CA397944854	GUCY2D	c.697G>C (p.Val233Leu)
17	g.8003744G=	CA2246053717	GUCY2D	c.697G= (p.Val233=)
17	g.8003744G>T	CA397944850	GUCY2D	c.697G>T (p.Val233Phe)	dbSNP gnomAD v4
17	g.8003744_8003751delinsGTTCGGGA	CA2246053718	GUCY2D	c.697_704delinsGTTCGGGA (p.Val233=)
17	g.8003745T>A	CA397944857	GUCY2D	c.698T>A (p.Val233Asp)
17	g.8003745T>C	CA397944858	GUCY2D	c.698T>C (p.Val233Ala)	gnomAD v4
17	g.8003745T>G	CA397944860	GUCY2D	c.698T>G (p.Val233Gly)
17	g.8003745_8003751del	CA2246053721	GUCY2D	c.698_704del (p.Val233AlafsTer8)	dbSNP
17	g.8003746T>A	CA497953303	GUCY2D	c.699T>A (p.Val233=)
17	g.8003746T>C	CA497953304	GUCY2D	c.699T>C (p.Val233=)
17	g.8003746T>G	CA497953306	GUCY2D	c.699T>G (p.Val233=)
17	g.8003747C>A	CA497953308	GUCY2D	c.700C>A (p.Arg234=)
17	g.8003747C=	CA2246053722	GUCY2D	c.700C= (p.Arg234=)
17	g.8003747C>G	CA397944864	GUCY2D	c.700C>G (p.Arg234Gly)
17	g.8003747C>T	CA397944866	GUCY2D	c.700C>T (p.Arg234Trp)	dbSNP gnomAD v2 gnomAD v4
17	g.8003748G>A	CA397944873	GUCY2D	c.701G>A (p.Arg234Gln)
17	g.8003748G>C	CA8365537	GUCY2D	c.701G>C (p.Arg234Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003748G=	CA2246053725	GUCY2D	c.701G= (p.Arg234=)
17	g.8003748G>T	CA397944870	GUCY2D	c.701G>T (p.Arg234Leu)	gnomAD v4
17	g.8003749G>A	CA497953311	GUCY2D	c.702G>A (p.Arg234=)	gnomAD v4
17	g.8003749G>C	CA497953313	GUCY2D	c.702G>C (p.Arg234=)
17	g.8003749G>T	CA497953312	GUCY2D	c.702G>T (p.Arg234=)
17	g.8003750G>A	CA397944876	GUCY2D	c.703G>A (p.Asp235Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.8003750G>C	CA397944878	GUCY2D	c.703G>C (p.Asp235His)
17	g.8003750G=	CA2246053727	GUCY2D	c.703G= (p.Asp235=)
17	g.8003750G>T	CA397944880	GUCY2D	c.703G>T (p.Asp235Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.8003751A>C	CA397944883	GUCY2D	c.704A>C (p.Asp235Ala)
17	g.8003751A>G	CA397944885	GUCY2D	c.704A>G (p.Asp235Gly)
17	g.8003751A>T	CA397944887	GUCY2D	c.704A>T (p.Asp235Val)

Number of alleles fetched