Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8003201G>A	CA397942850	GUCY2D	c.154G>A (p.Ala52Thr)	gnomAD v4
17	g.8003201G>C	CA397942851	GUCY2D	c.154G>C (p.Ala52Pro)	gnomAD v4
17	g.8003201G=	CA2246053102	GUCY2D	c.154G= (p.Ala52=)
17	g.8003201G>T	CA145842	GUCY2D	c.154G>T (p.Ala52Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003202C>A	CA397942852	GUCY2D	c.155C>A (p.Ala52Asp)	gnomAD v4
17	g.8003202C>G	CA397942854	GUCY2D	c.155C>G (p.Ala52Gly)
17	g.8003202C>T	CA397942853	GUCY2D	c.155C>T (p.Ala52Val)	ClinVar gnomAD v4
17	g.8003203C>A	CA497952791	GUCY2D	c.156C>A (p.Ala52=)	gnomAD v4
17	g.8003203C=	CA2246053104	GUCY2D	c.156C= (p.Ala52=)
17	g.8003203C>G	CA497952792	GUCY2D	c.156C>G (p.Ala52=)
17	g.8003203C>T	CA8365478	GUCY2D	c.156C>T (p.Ala52=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003204G>A	CA397942855	GUCY2D	c.157G>A (p.Val53Met)	dbSNP gnomAD v4
17	g.8003204G>C	CA397942856	GUCY2D	c.157G>C (p.Val53Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8003204G=	CA2246053106	GUCY2D	c.157G= (p.Val53=)
17	g.8003204G>T	CA397942857	GUCY2D	c.157G>T (p.Val53Leu)	gnomAD v4
17	g.8003205T>A	CA397942858	GUCY2D	c.158T>A (p.Val53Glu)	gnomAD v4
17	g.8003205T>C	CA397942859	GUCY2D	c.158T>C (p.Val53Ala)	gnomAD v4
17	g.8003205T>G	CA397942860	GUCY2D	c.158T>G (p.Val53Gly)
17	g.8003205_8003206delinsTG	CA2246053108	GUCY2D	c.158_159delinsTG (p.Val53=)
17	g.8003206del	CA287522990	GUCY2D	c.159del (p.Phe54SerfsTer?)	dbSNP
17	g.8003206G>A	CA497952797	GUCY2D	c.159G>A (p.Val53=)	ClinVar gnomAD v4
17	g.8003206G>C	CA497952798	GUCY2D	c.159G>C (p.Val53=)
17	g.8003206G>T	CA497952795	GUCY2D	c.159G>T (p.Val53=)	gnomAD v4
17	g.8003207T>A	CA397942861	GUCY2D	c.160T>A (p.Phe54Ile)	dbSNP gnomAD v3 gnomAD v4
17	g.8003207T>C	CA397942862	GUCY2D	c.160T>C (p.Phe54Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8003207T>G	CA397942863	GUCY2D	c.160T>G (p.Phe54Val)
17	g.8003207T=	CA2246053112	GUCY2D	c.160T= (p.Phe54=)
17	g.8003208T>A	CA397942866	GUCY2D	c.161T>A (p.Phe54Tyr)	gnomAD v4
17	g.8003208T>C	CA397942864	GUCY2D	c.161T>C (p.Phe54Ser)	gnomAD v4
17	g.8003208T>G	CA397942865	GUCY2D	c.161T>G (p.Phe54Cys)
17	g.8003209del	CA2808381340	GUCY2D	c.162del (p.Phe54LeufsTer?)
17	g.8003209C>A	CA397942867	GUCY2D	c.162C>A (p.Phe54Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8003209C=	CA2246053114	GUCY2D	c.162C= (p.Phe54=)
17	g.8003209C>G	CA397942868	GUCY2D	c.162C>G (p.Phe54Leu)	dbSNP gnomAD v4
17	g.8003209C>T	CA497952805	GUCY2D	c.162C>T (p.Phe54=)	gnomAD v4
17	g.8003210A>C	CA397942869	GUCY2D	c.163A>C (p.Thr55Pro)	dbSNP
17	g.8003210A>G	CA397942870	GUCY2D	c.163A>G (p.Thr55Ala)	gnomAD v4
17	g.8003210A>T	CA397942871	GUCY2D	c.163A>T (p.Thr55Ser)	gnomAD v4
17	g.8003211C>A	CA397942873	GUCY2D	c.164C>A (p.Thr55Lys)	gnomAD v4
17	g.8003211C=	CA2246053117	GUCY2D	c.164C= (p.Thr55=)
17	g.8003211C>G	CA397942872	GUCY2D	c.164C>G (p.Thr55Arg)	gnomAD v4
17	g.8003211C>T	CA232809	GUCY2D	c.164C>T (p.Thr55Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003212G>A	CA497952811	GUCY2D	c.165G>A (p.Thr55=)	ClinVar gnomAD v4
17	g.8003212G>C	CA497952810	GUCY2D	c.165G>C (p.Thr55=)
17	g.8003212G=	CA2246053119	GUCY2D	c.165G= (p.Thr55=)
17	g.8003212G>T	CA497952809	GUCY2D	c.165G>T (p.Thr55=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003213G>A	CA397942874	GUCY2D	c.166G>A (p.Val56Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003213G>C	CA397942875	GUCY2D	c.166G>C (p.Val56Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8003213G=	CA2246053121	GUCY2D	c.166G= (p.Val56=)
17	g.8003213G>T	CA397942876	GUCY2D	c.166G>T (p.Val56Leu)	gnomAD v4
17	g.8003214_8003215del	CA2695224283	GUCY2D	c.167_168del (p.Val56GlyfsTer?)
17	g.8003214T>A	CA397942877	GUCY2D	c.167T>A (p.Val56Glu)
17	g.8003214T>C	CA397942878	GUCY2D	c.167T>C (p.Val56Ala)	gnomAD v4
17	g.8003214T>G	CA397942879	GUCY2D	c.167T>G (p.Val56Gly)
17	g.8003214_8003215delinsTG	CA2246053123	GUCY2D	c.167_168delinsTG (p.Val56=)
17	g.8003215G>A	CA287523009	GUCY2D	c.168G>A (p.Val56=)	dbSNP gnomAD v4
17	g.8003215G>C	CA497952815	GUCY2D	c.168G>C (p.Val56=)
17	g.8003215G=	CA2246053125	GUCY2D	c.168G= (p.Val56=)
17	g.8003215G>T	CA497952816	GUCY2D	c.168G>T (p.Val56=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003219del	CA2246053127	GUCY2D	c.172del (p.Val58SerfsTer27)	dbSNP gnomAD v4
17	g.8003216G>A	CA397942880	GUCY2D	c.169G>A (p.Gly57Arg)	gnomAD v4
17	g.8003216G>C	CA397942882	GUCY2D	c.169G>C (p.Gly57Arg)	ClinVar
17	g.8003216G=	CA2246053129	GUCY2D	c.169G= (p.Gly57=)
17	g.8003216G>T	CA397942881	GUCY2D	c.169G>T (p.Gly57Trp)	dbSNP gnomAD v2 gnomAD v4
17	g.8003217G>A	CA397942883	GUCY2D	c.170G>A (p.Gly57Glu)	gnomAD v4
17	g.8003217G>C	CA397942884	GUCY2D	c.170G>C (p.Gly57Ala)
17	g.8003217G=	CA2246053131	GUCY2D	c.170G= (p.Gly57=)
17	g.8003217G>T	CA397942885	GUCY2D	c.170G>T (p.Gly57Val)	dbSNP gnomAD v2 gnomAD v4
17	g.8003218G>A	CA497952818	GUCY2D	c.171G>A (p.Gly57=)	gnomAD v4
17	g.8003218G>C	CA497952819	GUCY2D	c.171G>C (p.Gly57=)
17	g.8003218G=	CA2246053133	GUCY2D	c.171G= (p.Gly57=)
17	g.8003218G>T	CA497952820	GUCY2D	c.171G>T (p.Gly57=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003219G>A	CA397942886	GUCY2D	c.172G>A (p.Val58Ile)	gnomAD v4
17	g.8003219G>C	CA397942887	GUCY2D	c.172G>C (p.Val58Leu)
17	g.8003219G>T	CA397942888	GUCY2D	c.172G>T (p.Val58Phe)	gnomAD v4
17	g.8003220T>A	CA397942889	GUCY2D	c.173T>A (p.Val58Asp)
17	g.8003220T>C	CA397942890	GUCY2D	c.173T>C (p.Val58Ala)	gnomAD v4
17	g.8003220T>G	CA397942891	GUCY2D	c.173T>G (p.Val58Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.8003220T=	CA2246053134	GUCY2D	c.173T= (p.Val58=)
17	g.8003221C>A	CA497952824	GUCY2D	c.174C>A (p.Val58=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003221C=	CA2246053136	GUCY2D	c.174C= (p.Val58=)
17	g.8003221C>G	CA497952825	GUCY2D	c.174C>G (p.Val58=)	gnomAD v4
17	g.8003221C>T	CA287523023	GUCY2D	c.174C>T (p.Val58=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003222del	CA2573154501	GUCY2D	c.175del (p.Leu59TrpfsTer26)	ClinVar dbSNP
17	g.8003222C>A	CA397942892	GUCY2D	c.175C>A (p.Leu59Met)	gnomAD v4
17	g.8003222C=	CA2246053138	GUCY2D	c.175C= (p.Leu59=)
17	g.8003222C>G	CA397942893	GUCY2D	c.175C>G (p.Leu59Val)	gnomAD v4
17	g.8003222C>T	CA497952826	GUCY2D	c.175C>T (p.Leu59=)	gnomAD v4
17	g.8003223T>A	CA397942894	GUCY2D	c.176T>A (p.Leu59Gln)	gnomAD v4
17	g.8003223T>C	CA397942896	GUCY2D	c.176T>C (p.Leu59Pro)	gnomAD v4
17	g.8003223T>G	CA397942895	GUCY2D	c.176T>G (p.Leu59Arg)
17	g.8003223_8003224insCCGGGGT	CA1139664108	GUCY2D	c.176_177insCCGGGGT (p.Gly60ArgfsTer?)	ClinVar dbSNP
17	g.8003224G>A	CA497952830	GUCY2D	c.177G>A (p.Leu59=)	gnomAD v4
17	g.8003224G>C	CA497952831	GUCY2D	c.177G>C (p.Leu59=)	dbSNP gnomAD v3 gnomAD v4
17	g.8003224G=	CA2246053143	GUCY2D	c.177G= (p.Leu59=)
17	g.8003224G>T	CA287523025	GUCY2D	c.177G>T (p.Leu59=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003226del	CA2635949163	GUCY2D	c.179del (p.Gly60AlafsTer25)	gnomAD v4
17	g.8003225G>A	CA8365479	GUCY2D	c.178G>A (p.Gly60Ser)	dbSNP ExAC gnomAD v4
17	g.8003225G>C	CA397942898	GUCY2D	c.178G>C (p.Gly60Arg)	gnomAD v4
17	g.8003225G=	CA2246053145	GUCY2D	c.178G= (p.Gly60=)
17	g.8003225G>T	CA397942897	GUCY2D	c.178G>T (p.Gly60Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.8003226G>A	CA397942899	GUCY2D	c.179G>A (p.Gly60Asp)	gnomAD v4
17	g.8003226G>C	CA397942901	GUCY2D	c.179G>C (p.Gly60Ala)
17	g.8003226G>T	CA397942900	GUCY2D	c.179G>T (p.Gly60Val)	gnomAD v4
17	g.8003227C>A	CA497952837	GUCY2D	c.180C>A (p.Gly60=)	gnomAD v4
17	g.8003227C=	CA2246053148	GUCY2D	c.180C= (p.Gly60=)
17	g.8003227C>G	CA497952836	GUCY2D	c.180C>G (p.Gly60=)
17	g.8003227C>T	CA8365480	GUCY2D	c.180C>T (p.Gly60=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003230del	CA2635949164	GUCY2D	c.183del (p.Trp62GlyfsTer23)	gnomAD v4
17	g.8003228C>A	CA397942902	GUCY2D	c.181C>A (p.Pro61Thr)
17	g.8003228C>G	CA397942903	GUCY2D	c.181C>G (p.Pro61Ala)
17	g.8003228C>T	CA397942904	GUCY2D	c.181C>T (p.Pro61Ser)	gnomAD v4
17	g.8003229C>A	CA397942905	GUCY2D	c.182C>A (p.Pro61His)	gnomAD v4
17	g.8003229C>G	CA397942906	GUCY2D	c.182C>G (p.Pro61Arg)
17	g.8003229C>T	CA397942907	GUCY2D	c.182C>T (p.Pro61Leu)	gnomAD v4
17	g.8003230C>A	CA497952844	GUCY2D	c.183C>A (p.Pro61=)	gnomAD v4
17	g.8003230C>G	CA497952841	GUCY2D	c.183C>G (p.Pro61=)
17	g.8003230C>T	CA497952839	GUCY2D	c.183C>T (p.Pro61=)	gnomAD v4
17	g.8003231T>A	CA397942908	GUCY2D	c.184T>A (p.Trp62Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.8003231T>C	CA397942909	GUCY2D	c.184T>C (p.Trp62Arg)	gnomAD v4
17	g.8003231T>G	CA397942910	GUCY2D	c.184T>G (p.Trp62Gly)	dbSNP
17	g.8003231T=	CA2246053150	GUCY2D	c.184T= (p.Trp62=)
17	g.8003232G>A	CA397942911	GUCY2D	c.185G>A (p.Trp62Ter)	ClinVar gnomAD v4
17	g.8003232G>C	CA397942912	GUCY2D	c.185G>C (p.Trp62Ser)
17	g.8003232G=	CA2246053152	GUCY2D	c.185G= (p.Trp62=)
17	g.8003232G>T	CA397942913	GUCY2D	c.185G>T (p.Trp62Leu)	dbSNP gnomAD v4
17	g.8003234del	CA2635949165	GUCY2D	c.187del (p.Ala63LeufsTer22)	gnomAD v4
17	g.8003233G>A	CA397942914	GUCY2D	c.186G>A (p.Trp62Ter)	ClinVar gnomAD v4
17	g.8003233G>C	CA397942916	GUCY2D	c.186G>C (p.Trp62Cys)
17	g.8003233G>T	CA397942915	GUCY2D	c.186G>T (p.Trp62Cys)	gnomAD v4
17	g.8003234G>A	CA8365481	GUCY2D	c.187G>A (p.Ala63Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003234G>C	CA397942917	GUCY2D	c.187G>C (p.Ala63Pro)
17	g.8003234G=	CA2246053154	GUCY2D	c.187G= (p.Ala63=)
17	g.8003234G>T	CA397942918	GUCY2D	c.187G>T (p.Ala63Ser)	gnomAD v4
17	g.8003235C>A	CA397942919	GUCY2D	c.188C>A (p.Ala63Asp)	gnomAD v4
17	g.8003235C>G	CA397942920	GUCY2D	c.188C>G (p.Ala63Gly)
17	g.8003235C>T	CA397942921	GUCY2D	c.188C>T (p.Ala63Val)
17	g.8003236T>A	CA497952852	GUCY2D	c.189T>A (p.Ala63=)
17	g.8003236T>C	CA497952854	GUCY2D	c.189T>C (p.Ala63=)	gnomAD v4
17	g.8003236T>G	CA497952855	GUCY2D	c.189T>G (p.Ala63=)
17	g.8003237T>A	CA397942922	GUCY2D	c.190T>A (p.Cys64Ser)	gnomAD v4
17	g.8003237T>C	CA397942923	GUCY2D	c.190T>C (p.Cys64Arg)	gnomAD v4
17	g.8003237T>G	CA397942924	GUCY2D	c.190T>G (p.Cys64Gly)
17	g.8003238G>A	CA397942927	GUCY2D	c.191G>A (p.Cys64Tyr)	gnomAD v4
17	g.8003238G>C	CA397942926	GUCY2D	c.191G>C (p.Cys64Ser)
17	g.8003238G>T	CA397942925	GUCY2D	c.191G>T (p.Cys64Phe)	gnomAD v4
17	g.8003239C>A	CA397942928	GUCY2D	c.192C>A (p.Cys64Ter)	dbSNP gnomAD v3 gnomAD v4
17	g.8003239C=	CA2246053157	GUCY2D	c.192C= (p.Cys64=)
17	g.8003239C>G	CA397942929	GUCY2D	c.192C>G (p.Cys64Trp)	gnomAD v4
17	g.8003239C>T	CA497952859	GUCY2D	c.192C>T (p.Cys64=)	dbSNP gnomAD v3 gnomAD v4
17	g.8003240G>A	CA397942930	GUCY2D	c.193G>A (p.Asp65Asn)	dbSNP gnomAD v4
17	g.8003240G>C	CA397942931	GUCY2D	c.193G>C (p.Asp65His)
17	g.8003240G=	CA2246053159	GUCY2D	c.193G= (p.Asp65=)
17	g.8003240G>T	CA397942932	GUCY2D	c.193G>T (p.Asp65Tyr)	gnomAD v4
17	g.8003241A>C	CA397942933	GUCY2D	c.194A>C (p.Asp65Ala)	dbSNP
17	g.8003241A>G	CA397942934	GUCY2D	c.194A>G (p.Asp65Gly)	gnomAD v4
17	g.8003241A>T	CA397942935	GUCY2D	c.194A>T (p.Asp65Val)	gnomAD v4
17	g.8003242C>A	CA397942936	GUCY2D	c.195C>A (p.Asp65Glu)	gnomAD v4
17	g.8003242C=	CA2246053161	GUCY2D	c.195C= (p.Asp65=)
17	g.8003242C>G	CA397942937	GUCY2D	c.195C>G (p.Asp65Glu)	gnomAD v4
17	g.8003242C>T	CA497952865	GUCY2D	c.195C>T (p.Asp65=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003245del	CA2576159891	GUCY2D	c.198del (p.Ile67SerfsTer18)	gnomAD v4
17	g.8003243C>A	CA397942938	GUCY2D	c.196C>A (p.Pro66Thr)	gnomAD v4
17	g.8003243C=	CA2246053163	GUCY2D	c.196C= (p.Pro66=)
17	g.8003243C>G	CA397942939	GUCY2D	c.196C>G (p.Pro66Ala)
17	g.8003243C>T	CA397942940	GUCY2D	c.196C>T (p.Pro66Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003244C>A	CA397942941	GUCY2D	c.197C>A (p.Pro66His)	gnomAD v4
17	g.8003244C>G	CA397942943	GUCY2D	c.197C>G (p.Pro66Arg)
17	g.8003244C>T	CA397942942	GUCY2D	c.197C>T (p.Pro66Leu)	gnomAD v4
17	g.8003245C>A	CA497952869	GUCY2D	c.198C>A (p.Pro66=)	gnomAD v4
17	g.8003245C>G	CA497952870	GUCY2D	c.198C>G (p.Pro66=)
17	g.8003245C>T	CA497952871	GUCY2D	c.198C>T (p.Pro66=)	gnomAD v4
17	g.8003246A=	CA2246053165	GUCY2D	c.199A= (p.Ile67=)
17	g.8003246A>C	CA397942944	GUCY2D	c.199A>C (p.Ile67Leu)
17	g.8003246A>G	CA397942945	GUCY2D	c.199A>G (p.Ile67Val)	dbSNP gnomAD v3 gnomAD v4
17	g.8003246A>T	CA397942946	GUCY2D	c.199A>T (p.Ile67Phe)	gnomAD v4
17	g.8003247T>A	CA397942947	GUCY2D	c.200T>A (p.Ile67Asn)
17	g.8003247T>C	CA397942948	GUCY2D	c.200T>C (p.Ile67Thr)
17	g.8003247T>G	CA397942949	GUCY2D	c.200T>G (p.Ile67Ser)
17	g.8003248C>A	CA497952879	GUCY2D	c.201C>A (p.Ile67=)	gnomAD v4
17	g.8003248C>G	CA397942950	GUCY2D	c.201C>G (p.Ile67Met)
17	g.8003248C>T	CA497952878	GUCY2D	c.201C>T (p.Ile67=)	gnomAD v4
17	g.8003249T>A	CA397942951	GUCY2D	c.202T>A (p.Phe68Ile)
17	g.8003249T>C	CA397942952	GUCY2D	c.202T>C (p.Phe68Leu)	gnomAD v4
17	g.8003249T>G	CA397942953	GUCY2D	c.202T>G (p.Phe68Val)
17	g.8003250T>A	CA397942956	GUCY2D	c.203T>A (p.Phe68Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003250T>C	CA397942955	GUCY2D	c.203T>C (p.Phe68Ser)	gnomAD v4
17	g.8003250T>G	CA397942954	GUCY2D	c.203T>G (p.Phe68Cys)
17	g.8003250T=	CA2246053166	GUCY2D	c.203T= (p.Phe68=)
17	g.8003251C>A	CA397942957	GUCY2D	c.204C>A (p.Phe68Leu)	gnomAD v4
17	g.8003251C>G	CA397942958	GUCY2D	c.204C>G (p.Phe68Leu)
17	g.8003251C>T	CA497952882	GUCY2D	c.204C>T (p.Phe68=)	gnomAD v4
17	g.8003252T>A	CA397942959	GUCY2D	c.205T>A (p.Ser69Thr)
17	g.8003252T>C	CA397942960	GUCY2D	c.205T>C (p.Ser69Pro)	gnomAD v4
17	g.8003252T>G	CA397942961	GUCY2D	c.205T>G (p.Ser69Ala)
17	g.8003253C>A	CA397942964	GUCY2D	c.206C>A (p.Ser69Tyr)	gnomAD v4
17	g.8003253C=	CA2246053168	GUCY2D	c.206C= (p.Ser69=)
17	g.8003253C>G	CA397942963	GUCY2D	c.206C>G (p.Ser69Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003253C>T	CA397942962	GUCY2D	c.206C>T (p.Ser69Phe)	gnomAD v4
17	g.8003254T>A	CA497952886	GUCY2D	c.207T>A (p.Ser69=)
17	g.8003254T>C	CA8365482	GUCY2D	c.207T>C (p.Ser69=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003254T>G	CA287523040	GUCY2D	c.207T>G (p.Ser69=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003254T=	CA2246053171	GUCY2D	c.207T= (p.Ser69=)
17	g.8003255C>A	CA497952887	GUCY2D	c.208C>A (p.Arg70=)	gnomAD v4
17	g.8003255C=	CA2246053173	GUCY2D	c.208C= (p.Arg70=)
17	g.8003255C>G	CA397942965	GUCY2D	c.208C>G (p.Arg70Gly)	gnomAD v4
17	g.8003255C>T	CA397942966	GUCY2D	c.208C>T (p.Arg70Trp)	dbSNP gnomAD v4
17	g.8003256G>A	CA397942967	GUCY2D	c.209G>A (p.Arg70Gln)	gnomAD v4
17	g.8003256G>C	CA397942968	GUCY2D	c.209G>C (p.Arg70Pro)	ClinVar
17	g.8003256G>T	CA397942969	GUCY2D	c.209G>T (p.Arg70Leu)	gnomAD v4
17	g.8003257G>A	CA497952891	GUCY2D	c.210G>A (p.Arg70=)	gnomAD v4
17	g.8003257G>C	CA497952892	GUCY2D	c.210G>C (p.Arg70=)
17	g.8003257G>T	CA497952893	GUCY2D	c.210G>T (p.Arg70=)	gnomAD v4
17	g.8003258G>A	CA397942972	GUCY2D	c.211G>A (p.Ala71Thr)	gnomAD v4
17	g.8003258G>C	CA397942970	GUCY2D	c.211G>C (p.Ala71Pro)	dbSNP
17	g.8003258G=	CA2246053175	GUCY2D	c.211G= (p.Ala71=)
17	g.8003258G>T	CA397942971	GUCY2D	c.211G>T (p.Ala71Ser)	gnomAD v4
17	g.8003259C>A	CA397942973	GUCY2D	c.212C>A (p.Ala71Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.8003259C=	CA2246053177	GUCY2D	c.212C= (p.Ala71=)
17	g.8003259C>G	CA397942974	GUCY2D	c.212C>G (p.Ala71Gly)
17	g.8003259C>T	CA397942975	GUCY2D	c.212C>T (p.Ala71Val)	gnomAD v4
17	g.8003260T>A	CA497952897	GUCY2D	c.213T>A (p.Ala71=)
17	g.8003260T>C	CA497952899	GUCY2D	c.213T>C (p.Ala71=)	gnomAD v4
17	g.8003260T>G	CA497952900	GUCY2D	c.213T>G (p.Ala71=)
17	g.8003261C>A	CA397942976	GUCY2D	c.214C>A (p.Arg72Ser)	gnomAD v4
17	g.8003261C=	CA2246053179	GUCY2D	c.214C= (p.Arg72=)
17	g.8003261C>G	CA397942977	GUCY2D	c.214C>G (p.Arg72Gly)	gnomAD v4
17	g.8003261C>T	CA397942978	GUCY2D	c.214C>T (p.Arg72Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.8003267_8003280del	CA2695224284	GUCY2D	c.220_233del (p.Asp74ProfsTer?)
17	g.8003262G>A	CA397942979	GUCY2D	c.215G>A (p.Arg72His)	dbSNP gnomAD v3 gnomAD v4
17	g.8003262G>C	CA397942980	GUCY2D	c.215G>C (p.Arg72Pro)
17	g.8003262G=	CA2246053181	GUCY2D	c.215G= (p.Arg72=)
17	g.8003262G>T	CA287523044	GUCY2D	c.215G>T (p.Arg72Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003263C>A	CA497952903	GUCY2D	c.216C>A (p.Arg72=)	gnomAD v4
17	g.8003263C=	CA2246053184	GUCY2D	c.216C= (p.Arg72=)
17	g.8003263C>G	CA497952905	GUCY2D	c.216C>G (p.Arg72=)	dbSNP
17	g.8003263C>T	CA497952908	GUCY2D	c.216C>T (p.Arg72=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003264C>A	CA397942981	GUCY2D	c.217C>A (p.Pro73Thr)	dbSNP gnomAD v3 gnomAD v4
17	g.8003264C=	CA2246053186	GUCY2D	c.217C= (p.Pro73=)
17	g.8003264C>G	CA397942982	GUCY2D	c.217C>G (p.Pro73Ala)
17	g.8003264C>T	CA397942983	GUCY2D	c.217C>T (p.Pro73Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.8003265C>A	CA8365483	GUCY2D	c.218C>A (p.Pro73Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003265C=	CA2246053189	GUCY2D	c.218C= (p.Pro73=)
17	g.8003265C>G	CA397942985	GUCY2D	c.218C>G (p.Pro73Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.8003265C>T	CA397942984	GUCY2D	c.218C>T (p.Pro73Leu)	ClinVar dbSNP gnomAD v4
17	g.8003266G>A	CA497952912	GUCY2D	c.219G>A (p.Pro73=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003266G>C	CA497952913	GUCY2D	c.219G>C (p.Pro73=)	gnomAD v4
17	g.8003266G=	CA2246053192	GUCY2D	c.219G= (p.Pro73=)
17	g.8003266G>T	CA497952914	GUCY2D	c.219G>T (p.Pro73=)	gnomAD v4
17	g.8003267del	CA2635949171	GUCY2D	c.220del (p.Asp74ThrfsTer11)	gnomAD v4
17	g.8003267G>A	CA397942986	GUCY2D	c.220G>A (p.Asp74Asn)	dbSNP gnomAD v4
17	g.8003267G>C	CA397942987	GUCY2D	c.220G>C (p.Asp74His)
17	g.8003267G=	CA2246053193	GUCY2D	c.220G= (p.Asp74=)
17	g.8003267G>T	CA397942988	GUCY2D	c.220G>T (p.Asp74Tyr)	gnomAD v4
17	g.8003268A=	CA2246053195	GUCY2D	c.221A= (p.Asp74=)
17	g.8003268A>C	CA397942989	GUCY2D	c.221A>C (p.Asp74Ala)
17	g.8003268A>G	CA397942990	GUCY2D	c.221A>G (p.Asp74Gly)
17	g.8003268A>T	CA397942991	GUCY2D	c.221A>T (p.Asp74Val)
17	g.8003269C>A	CA397942992	GUCY2D	c.222C>A (p.Asp74Glu)	gnomAD v4
17	g.8003269C=	CA2246053198	GUCY2D	c.222C= (p.Asp74=)
17	g.8003269C>G	CA397942993	GUCY2D	c.222C>G (p.Asp74Glu)
17	g.8003269C>T	CA8365484	GUCY2D	c.222C>T (p.Asp74=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8003279_8003290dup	CA2246053197	GUCY2D	c.232_243dup (p.Ala81_Ala82insArgLeuAlaAla)	ClinVar dbSNP gnomAD v4
17	g.8003279_8003290del	CA2635949175	GUCY2D	c.232_243del (p.Arg78_Ala81del)	gnomAD v4
17	g.8003270C>A	CA397942994	GUCY2D	c.223C>A (p.Leu75Met)	gnomAD v4
17	g.8003270C=	CA2246053199	GUCY2D	c.223C= (p.Leu75=)
17	g.8003270C>G	CA397942995	GUCY2D	c.223C>G (p.Leu75Val)
17	g.8003270C>T	CA497952917	GUCY2D	c.223C>T (p.Leu75=)	dbSNP gnomAD v3 gnomAD v4
17	g.8003271T>A	CA397942998	GUCY2D	c.224T>A (p.Leu75Gln)
17	g.8003271T>C	CA397942997	GUCY2D	c.224T>C (p.Leu75Pro)	gnomAD v4
17	g.8003271T>G	CA397942996	GUCY2D	c.224T>G (p.Leu75Arg)	gnomAD v4
17	g.8003271_8003285del	CA2635949180	GUCY2D	c.224_238del (p.Leu75_Ala80delinsPro)	gnomAD v4
17	g.8003272G>A	CA497952921	GUCY2D	c.225G>A (p.Leu75=)	gnomAD v4
17	g.8003272G>C	CA497952922	GUCY2D	c.225G>C (p.Leu75=)	gnomAD v4
17	g.8003272G>T	CA497952923	GUCY2D	c.225G>T (p.Leu75=)	gnomAD v4
17	g.8003272_8003286delinsGGCCGCCCGCCTGGC	CA2246053200	GUCY2D	c.225_239delinsGGCCGCCCGCCTGGC (p.Leu75=)
17	g.8003272_8003287delinsGGCCGCCCGCCTGGCC	CA2246053201	GUCY2D	c.225_240delinsGGCCGCCCGCCTGGCC (p.Leu75=)
17	g.8003273G>A	CA397942999	GUCY2D	c.226G>A (p.Ala76Thr)	dbSNP gnomAD v4
17	g.8003273G>C	CA397943000	GUCY2D	c.226G>C (p.Ala76Pro)
17	g.8003273G=	CA2246053208	GUCY2D	c.226G= (p.Ala76=)
17	g.8003273G>T	CA397943001	GUCY2D	c.226G>T (p.Ala76Ser)	gnomAD v4
17	g.8003273_8003286del	CA226074	GUCY2D	c.226_239del (p.Ala76ArgfsTer?)	ClinVar dbSNP
17	g.8003285_8003299dup	CA2246053207	GUCY2D	c.238_252dup (p.Leu84_Asn85insAlaAlaAlaArgLeu)	ClinVar dbSNP gnomAD v4
17	g.8003285_8003299del	CA287523069	GUCY2D	c.238_252del (p.Ala80_Leu84del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003274C>A	CA397943002	GUCY2D	c.227C>A (p.Ala76Asp)	gnomAD v4
17	g.8003274C>G	CA397943003	GUCY2D	c.227C>G (p.Ala76Gly)
17	g.8003274C>T	CA397943004	GUCY2D	c.227C>T (p.Ala76Val)	gnomAD v4
17	g.8003275C>A	CA497952927	GUCY2D	c.228C>A (p.Ala76=)	dbSNP gnomAD v2 gnomAD v4
17	g.8003275C=	CA2246053211	GUCY2D	c.228C= (p.Ala76=)
17	g.8003275C>G	CA497952928	GUCY2D	c.228C>G (p.Ala76=)
17	g.8003275C>T	CA497952929	GUCY2D	c.228C>T (p.Ala76=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003275_8003276insACA	CA2808381381	GUCY2D	c.228_229insACA (p.Ala76_Ala77insThr)
17	g.8003276G>A	CA397943005	GUCY2D	c.229G>A (p.Ala77Thr)	gnomAD v4
17	g.8003276G>C	CA397943006	GUCY2D	c.229G>C (p.Ala77Pro)
17	g.8003276G>T	CA397943007	GUCY2D	c.229G>T (p.Ala77Ser)	gnomAD v4
17	g.8003277C>A	CA397943008	GUCY2D	c.230C>A (p.Ala77Asp)	dbSNP gnomAD v4
17	g.8003277C=	CA2246053213	GUCY2D	c.230C= (p.Ala77=)
17	g.8003277C>G	CA397943009	GUCY2D	c.230C>G (p.Ala77Gly)
17	g.8003277C>T	CA397943010	GUCY2D	c.230C>T (p.Ala77Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003279del	CA2635949207	GUCY2D	c.232del (p.Arg78AlafsTer7)	gnomAD v4
17	g.8003278C>A	CA497952933	GUCY2D	c.231C>A (p.Ala77=)	gnomAD v4 COSMIC
17	g.8003278C>G	CA497952934	GUCY2D	c.231C>G (p.Ala77=)	gnomAD v4
17	g.8003278C>T	CA497952936	GUCY2D	c.231C>T (p.Ala77=)
17	g.8003279C>A	CA8365485	GUCY2D	c.232C>A (p.Arg78Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003279C=	CA2246053215	GUCY2D	c.232C= (p.Arg78=)
17	g.8003279C>G	CA397943011	GUCY2D	c.232C>G (p.Arg78Gly)
17	g.8003279C>T	CA287523070	GUCY2D	c.232C>T (p.Arg78Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003280del	CA2733193346	GUCY2D	c.233del (p.Arg78ProfsTer7)	dbSNP
17	g.8003280G>A	CA397943014	GUCY2D	c.233G>A (p.Arg78His)	gnomAD v4
17	g.8003280G>C	CA397943012	GUCY2D	c.233G>C (p.Arg78Pro)	dbSNP
17	g.8003280G=	CA2246053218	GUCY2D	c.233G= (p.Arg78=)
17	g.8003280G>T	CA397943013	GUCY2D	c.233G>T (p.Arg78Leu)	dbSNP gnomAD v4
17	g.8003281C>A	CA497952942	GUCY2D	c.234C>A (p.Arg78=)	gnomAD v4
17	g.8003281C=	CA2246053220	GUCY2D	c.234C= (p.Arg78=)
17	g.8003281C>G	CA497952943	GUCY2D	c.234C>G (p.Arg78=)	dbSNP
17	g.8003281C>T	CA497952944	GUCY2D	c.234C>T (p.Arg78=)	gnomAD v4
17	g.8003282C>A	CA397943015	GUCY2D	c.235C>A (p.Leu79Met)	gnomAD v4
17	g.8003282C=	CA2246053222	GUCY2D	c.235C= (p.Leu79=)
17	g.8003282C>G	CA397943016	GUCY2D	c.235C>G (p.Leu79Val)
17	g.8003282C>T	CA497952945	GUCY2D	c.235C>T (p.Leu79=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8003283del	CA2635949227	GUCY2D	c.236del (p.Leu79ArgfsTer6)	gnomAD v4
17	g.8003283T>A	CA397943017	GUCY2D	c.236T>A (p.Leu79Gln)
17	g.8003283T>C	CA397943018	GUCY2D	c.236T>C (p.Leu79Pro)	gnomAD v4
17	g.8003283T>G	CA397943019	GUCY2D	c.236T>G (p.Leu79Arg)
17	g.8003284G>A	CA497952950	GUCY2D	c.237G>A (p.Leu79=)	gnomAD v4
17	g.8003284G>C	CA497952951	GUCY2D	c.237G>C (p.Leu79=)
17	g.8003284G>T	CA497952949	GUCY2D	c.237G>T (p.Leu79=)	gnomAD v4
17	g.8003285G>A	CA8365486	GUCY2D	c.238G>A (p.Ala80Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003285G>C	CA397943020	GUCY2D	c.238G>C (p.Ala80Pro)
17	g.8003285G=	CA2246053224	GUCY2D	c.238G= (p.Ala80=)
17	g.8003285G>T	CA397943021	GUCY2D	c.238G>T (p.Ala80Ser)	gnomAD v4
17	g.8003286C>A	CA397943022	GUCY2D	c.239C>A (p.Ala80Asp)	gnomAD v4
17	g.8003286C>G	CA397943023	GUCY2D	c.239C>G (p.Ala80Gly)
17	g.8003286C>T	CA397943024	GUCY2D	c.239C>T (p.Ala80Val)	ClinVar gnomAD v4
17	g.8003291_8003297dup	CA2695224285	GUCY2D	c.244_250dup (p.Leu84ArgfsTer?)
17	g.8003286_8003300del	CA2635949342	GUCY2D	c.239_253del (p.Ala80_Asn85delinsAsp)	gnomAD v4
17	g.8003287C>A	CA287523076	GUCY2D	c.240C>A (p.Ala80=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8003287C=	CA2246053226	GUCY2D	c.240C= (p.Ala80=)
17	g.8003287C>G	CA497952958	GUCY2D	c.240C>G (p.Ala80=)	gnomAD v4
17	g.8003287C>T	CA497952959	GUCY2D	c.240C>T (p.Ala80=)	gnomAD v4 COSMIC
17	g.8003288G>A	CA397943027	GUCY2D	c.241G>A (p.Ala81Thr)	gnomAD v4
17	g.8003288G>C	CA397943025	GUCY2D	c.241G>C (p.Ala81Pro)	gnomAD v4
17	g.8003288G>T	CA397943026	GUCY2D	c.241G>T (p.Ala81Ser)	gnomAD v4
17	g.8003289C>A	CA397943028	GUCY2D	c.242C>A (p.Ala81Asp)	gnomAD v4
17	g.8003289C>G	CA397943029	GUCY2D	c.242C>G (p.Ala81Gly)
17	g.8003289C>T	CA397943030	GUCY2D	c.242C>T (p.Ala81Val)	gnomAD v4
17	g.8003290C>A	CA497952963	GUCY2D	c.243C>A (p.Ala81=)	gnomAD v4
17	g.8003290C=	CA2246053229	GUCY2D	c.243C= (p.Ala81=)
17	g.8003290C>G	CA497952964	GUCY2D	c.243C>G (p.Ala81=)	dbSNP gnomAD v4
17	g.8003290C>T	CA497952962	GUCY2D	c.243C>T (p.Ala81=)	gnomAD v4
17	g.8003291_8003292del	CA2635949377	GUCY2D	c.244_245del (p.Ala82ProfsTer?)	gnomAD v4
17	g.8003291G>A	CA397943031	GUCY2D	c.244G>A (p.Ala82Thr)	gnomAD v4
17	g.8003291G>C	CA397943032	GUCY2D	c.244G>C (p.Ala82Pro)
17	g.8003291G>T	CA397943033	GUCY2D	c.244G>T (p.Ala82Ser)	gnomAD v4
17	g.8003292C>A	CA397943034	GUCY2D	c.245C>A (p.Ala82Asp)	gnomAD v4
17	g.8003292C>G	CA397943035	GUCY2D	c.245C>G (p.Ala82Gly)
17	g.8003292C>T	CA397943036	GUCY2D	c.245C>T (p.Ala82Val)	gnomAD v4
17	g.8003294del	CA2635949398	GUCY2D	c.247del (p.Arg83AlafsTer2)	gnomAD v4
17	g.8003293C>A	CA497952970	GUCY2D	c.246C>A (p.Ala82=)	gnomAD v4
17	g.8003293C>G	CA497952968	GUCY2D	c.246C>G (p.Ala82=)
17	g.8003293C>T	CA497952969	GUCY2D	c.246C>T (p.Ala82=)	gnomAD v4
17	g.8003294C>A	CA397943037	GUCY2D	c.247C>A (p.Arg83Ser)	gnomAD v4
17	g.8003294C=	CA2246053231	GUCY2D	c.247C= (p.Arg83=)
17	g.8003294C>G	CA397943038	GUCY2D	c.247C>G (p.Arg83Gly)
17	g.8003294C>T	CA397943039	GUCY2D	c.247C>T (p.Arg83Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8003295G>A	CA397943042	GUCY2D	c.248G>A (p.Arg83His)	dbSNP gnomAD v2 gnomAD v4
17	g.8003295G>C	CA397943041	GUCY2D	c.248G>C (p.Arg83Pro)
17	g.8003295G=	CA2246053233	GUCY2D	c.248G= (p.Arg83=)
17	g.8003295G>T	CA397943040	GUCY2D	c.248G>T (p.Arg83Leu)	gnomAD v4
17	g.8003296C>A	CA497952974	GUCY2D	c.249C>A (p.Arg83=)	gnomAD v4
17	g.8003296C>G	CA497952976	GUCY2D	c.249C>G (p.Arg83=)	gnomAD v4
17	g.8003296C>T	CA497952975	GUCY2D	c.249C>T (p.Arg83=)	gnomAD v4
17	g.8003297C>A	CA397943044	GUCY2D	c.250C>A (p.Leu84Met)	gnomAD v4
17	g.8003297C>G	CA397943043	GUCY2D	c.250C>G (p.Leu84Val)	gnomAD v4
17	g.8003297C>T	CA497952980	GUCY2D	c.250C>T (p.Leu84=)	gnomAD v4
17	g.8003298T>A	CA397943045	GUCY2D	c.251T>A (p.Leu84Gln)	gnomAD v4
17	g.8003298T>C	CA397943046	GUCY2D	c.251T>C (p.Leu84Pro)	gnomAD v4
17	g.8003298T>G	CA397943047	GUCY2D	c.251T>G (p.Leu84Arg)
17	g.8003299G>A	CA497952982	GUCY2D	c.252G>A (p.Leu84=)	gnomAD v4
17	g.8003299G>C	CA497952983	GUCY2D	c.252G>C (p.Leu84=)
17	g.8003299G>T	CA497952984	GUCY2D	c.252G>T (p.Leu84=)	gnomAD v4
17	g.8003300A>C	CA397943048	GUCY2D	c.253A>C (p.Asn85His)
17	g.8003300A>G	CA397943049	GUCY2D	c.253A>G (p.Asn85Asp)	gnomAD v4
17	g.8003300A>T	CA397943050	GUCY2D	c.253A>T (p.Asn85Tyr)
17	g.8003301A>C	CA397943051	GUCY2D	c.254A>C (p.Asn85Thr)	gnomAD v4
17	g.8003301A>G	CA397943052	GUCY2D	c.254A>G (p.Asn85Ser)	gnomAD v4
17	g.8003301A>T	CA397943053	GUCY2D	c.254A>T (p.Asn85Ile)

Number of alleles fetched