Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8012504A>C	CA397952234	GUCY2D	c.2011A>C (p.Asn671His)
17	g.8012504A>G	CA397952236	GUCY2D	c.2011A>G (p.Asn671Asp)
17	g.8012504A>T	CA397952238	GUCY2D	c.2011A>T (p.Asn671Tyr)
17	g.8012505A>C	CA397952240	GUCY2D	c.2012A>C (p.Asn671Thr)
17	g.8012505A>G	CA397952242	GUCY2D	c.2012A>G (p.Asn671Ser)
17	g.8012505A>T	CA397952244	GUCY2D	c.2012A>T (p.Asn671Ile)
17	g.8012506C>A	CA397952246	GUCY2D	c.2013C>A (p.Asn671Lys)
17	g.8012506C>G	CA397952248	GUCY2D	c.2013C>G (p.Asn671Lys)
17	g.8012506C>T	CA497953258	GUCY2D	c.2013C>T (p.Asn671=)
17	g.8012507T>A	CA397952254	GUCY2D	c.2014T>A (p.Cys672Ser)
17	g.8012507T>C	CA397952251	GUCY2D	c.2014T>C (p.Cys672Arg)
17	g.8012507T>G	CA397952252	GUCY2D	c.2014T>G (p.Cys672Gly)
17	g.8012508G>A	CA397952257	GUCY2D	c.2015G>A (p.Cys672Tyr)	ClinVar dbSNP
17	g.8012508G>C	CA397952258	GUCY2D	c.2015G>C (p.Cys672Ser)
17	g.8012508G=	CA2246114427	GUCY2D	c.2015G= (p.Cys672=)
17	g.8012508G>T	CA397952261	GUCY2D	c.2015G>T (p.Cys672Phe)
17	g.8012509C>A	CA397952263	GUCY2D	c.2016C>A (p.Cys672Ter)
17	g.8012509C>G	CA397952265	GUCY2D	c.2016C>G (p.Cys672Trp)
17	g.8012509C>T	CA497953262	GUCY2D	c.2016C>T (p.Cys672=)
17	g.8012510A=	CA2246114431	GUCY2D	c.2017A= (p.Ile673=)
17	g.8012510A>C	CA397952267	GUCY2D	c.2017A>C (p.Ile673Leu)
17	g.8012510A>G	CA397952269	GUCY2D	c.2017A>G (p.Ile673Val)	dbSNP gnomAD v4
17	g.8012510A>T	CA397952273	GUCY2D	c.2017A>T (p.Ile673Leu)
17	g.8012511T>A	CA397952276	GUCY2D	c.2018T>A (p.Ile673Lys)
17	g.8012511T>C	CA397952277	GUCY2D	c.2018T>C (p.Ile673Thr)	gnomAD v4
17	g.8012511T>G	CA397952279	GUCY2D	c.2018T>G (p.Ile673Arg)
17	g.8012512A=	CA2246114434	GUCY2D	c.2019A= (p.Ile673=)
17	g.8012512A>C	CA497953271	GUCY2D	c.2019A>C (p.Ile673=)
17	g.8012512A>G	CA397952281	GUCY2D	c.2019A>G (p.Ile673Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012512A>T	CA497953272	GUCY2D	c.2019A>T (p.Ile673=)
17	g.8012513G>A	CA397952285	GUCY2D	c.2020G>A (p.Val674Met)
17	g.8012513G>C	CA397952287	GUCY2D	c.2020G>C (p.Val674Leu)
17	g.8012513G>T	CA397952283	GUCY2D	c.2020G>T (p.Val674Leu)
17	g.8012514T>A	CA397952292	GUCY2D	c.2021T>A (p.Val674Glu)
17	g.8012514T>C	CA397952290	GUCY2D	c.2021T>C (p.Val674Ala)
17	g.8012514T>G	CA397952293	GUCY2D	c.2021T>G (p.Val674Gly)
17	g.8012515G>A	CA497953281	GUCY2D	c.2022G>A (p.Val674=)
17	g.8012515G>C	CA497953285	GUCY2D	c.2022G>C (p.Val674=)
17	g.8012515G=	CA2246114438	GUCY2D	c.2022G= (p.Val674=)
17	g.8012515G>T	CA497953283	GUCY2D	c.2022G>T (p.Val674=)	dbSNP gnomAD v2 gnomAD v4
17	g.8012516G>A	CA397952295	GUCY2D	c.2023G>A (p.Asp675Asn)
17	g.8012516G>C	CA397952299	GUCY2D	c.2023G>C (p.Asp675His)
17	g.8012516G>T	CA397952297	GUCY2D	c.2023G>T (p.Asp675Tyr)
17	g.8012517A>C	CA397952301	GUCY2D	c.2024A>C (p.Asp675Ala)	gnomAD v4
17	g.8012517A>G	CA397952303	GUCY2D	c.2024A>G (p.Asp675Gly)	gnomAD v4
17	g.8012517A>T	CA397952305	GUCY2D	c.2024A>T (p.Asp675Val)	gnomAD v4
17	g.8012518T>A	CA397952308	GUCY2D	c.2025T>A (p.Asp675Glu)
17	g.8012518T>C	CA497953291	GUCY2D	c.2025T>C (p.Asp675=)
17	g.8012518T>G	CA397952309	GUCY2D	c.2025T>G (p.Asp675Glu)
17	g.8012519G>A	CA397952311	GUCY2D	c.2026G>A (p.Gly676Ser)
17	g.8012519G>C	CA397952313	GUCY2D	c.2026G>C (p.Gly676Arg)	gnomAD v4
17	g.8012519G>T	CA397952315	GUCY2D	c.2026G>T (p.Gly676Cys)
17	g.8012520G>A	CA397952316	GUCY2D	c.2027G>A (p.Gly676Asp)
17	g.8012520G>C	CA397952318	GUCY2D	c.2027G>C (p.Gly676Ala)
17	g.8012520G>T	CA397952320	GUCY2D	c.2027G>T (p.Gly676Val)
17	g.8012521C>A	CA497953299	GUCY2D	c.2028C>A (p.Gly676=)
17	g.8012521C=	CA2246114441	GUCY2D	c.2028C= (p.Gly676=)
17	g.8012521C>G	CA497953300	GUCY2D	c.2028C>G (p.Gly676=)	dbSNP
17	g.8012521C>T	CA497953301	GUCY2D	c.2028C>T (p.Gly676=)
17	g.8012522A>C	CA497953302	GUCY2D	c.2029A>C (p.Arg677=)
17	g.8012522A>G	CA397952325	GUCY2D	c.2029A>G (p.Arg677Gly)	gnomAD v4
17	g.8012522A>T	CA397952323	GUCY2D	c.2029A>T (p.Arg677Ter)
17	g.8012523G>A	CA8365969	GUCY2D	c.2030G>A (p.Arg677Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012523G>C	CA397952328	GUCY2D	c.2030G>C (p.Arg677Thr)
17	g.8012523G=	CA2246114443	GUCY2D	c.2030G= (p.Arg677=)
17	g.8012523G>T	CA397952330	GUCY2D	c.2030G>T (p.Arg677Ile)
17	g.8012524A=	CA2246114444	GUCY2D	c.2031A= (p.Arg677=)
17	g.8012524A>C	CA397952333	GUCY2D	c.2031A>C (p.Arg677Ser)
17	g.8012524A>G	CA8365970	GUCY2D	c.2031A>G (p.Arg677=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012524A>T	CA397952335	GUCY2D	c.2031A>T (p.Arg677Ser)
17	g.8012525T>A	CA397952337	GUCY2D	c.2032T>A (p.Phe678Ile)
17	g.8012525T>C	CA397952339	GUCY2D	c.2032T>C (p.Phe678Leu)	dbSNP
17	g.8012525T>G	CA397952341	GUCY2D	c.2032T>G (p.Phe678Val)
17	g.8012525T=	CA2246114446	GUCY2D	c.2032T= (p.Phe678=)
17	g.8012526T>A	CA397952343	GUCY2D	c.2033T>A (p.Phe678Tyr)
17	g.8012526T>C	CA397952344	GUCY2D	c.2033T>C (p.Phe678Ser)
17	g.8012526T>G	CA397952346	GUCY2D	c.2033T>G (p.Phe678Cys)	dbSNP gnomAD v3 gnomAD v4
17	g.8012526T=	CA2246114447	GUCY2D	c.2033T= (p.Phe678=)
17	g.8012527C>A	CA397952349	GUCY2D	c.2034C>A (p.Phe678Leu)
17	g.8012527C=	CA2246114451	GUCY2D	c.2034C= (p.Phe678=)
17	g.8012527C>G	CA397952351	GUCY2D	c.2034C>G (p.Phe678Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.8012527C>T	CA8365971	GUCY2D	c.2034C>T (p.Phe678=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012528G>A	CA8365972	GUCY2D	c.2035G>A (p.Val679Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012528G>C	CA397952354	GUCY2D	c.2035G>C (p.Val679Leu)
17	g.8012528G=	CA2246114458	GUCY2D	c.2035G= (p.Val679=)
17	g.8012528G>T	CA397952356	GUCY2D	c.2035G>T (p.Val679Leu)
17	g.8012529T>A	CA397952359	GUCY2D	c.2036T>A (p.Val679Glu)
17	g.8012529T>C	CA397952360	GUCY2D	c.2036T>C (p.Val679Ala)	gnomAD v4
17	g.8012529T>G	CA397952363	GUCY2D	c.2036T>G (p.Val679Gly)
17	g.8012530A>C	CA497953317	GUCY2D	c.2037A>C (p.Val679=)
17	g.8012530A>G	CA497953320	GUCY2D	c.2037A>G (p.Val679=)
17	g.8012530A>T	CA497953321	GUCY2D	c.2037A>T (p.Val679=)	gnomAD v4
17	g.8012531C>A	CA397952365	GUCY2D	c.2038C>A (p.Leu680Ile)
17	g.8012531C=	CA2246114460	GUCY2D	c.2038C= (p.Leu680=)
17	g.8012531C>G	CA397952367	GUCY2D	c.2038C>G (p.Leu680Val)
17	g.8012531C>T	CA397952369	GUCY2D	c.2038C>T (p.Leu680Phe)	dbSNP
17	g.8012532T>A	CA397952371	GUCY2D	c.2039T>A (p.Leu680His)
17	g.8012532T>C	CA397952373	GUCY2D	c.2039T>C (p.Leu680Pro)
17	g.8012532T>G	CA397952375	GUCY2D	c.2039T>G (p.Leu680Arg)
17	g.8012533C>A	CA497953322	GUCY2D	c.2040C>A (p.Leu680=)
17	g.8012533C=	CA2246114462	GUCY2D	c.2040C= (p.Leu680=)
17	g.8012533C>G	CA497953324	GUCY2D	c.2040C>G (p.Leu680=)
17	g.8012533C>T	CA497953326	GUCY2D	c.2040C>T (p.Leu680=)	dbSNP
17	g.8012534A=	CA2246114464	GUCY2D	c.2041A= (p.Lys681=)
17	g.8012534A>C	CA397952379	GUCY2D	c.2041A>C (p.Lys681Gln)
17	g.8012534A>G	CA8365973	GUCY2D	c.2041A>G (p.Lys681Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012534A>T	CA397952377	GUCY2D	c.2041A>T (p.Lys681Ter)
17	g.8012535A>C	CA397952383	GUCY2D	c.2042A>C (p.Lys681Thr)
17	g.8012535A>G	CA397952385	GUCY2D	c.2042A>G (p.Lys681Arg)
17	g.8012535A>T	CA397952386	GUCY2D	c.2042A>T (p.Lys681Met)
17	g.8012536G>A	CA497953331	GUCY2D	c.2043G>A (p.Lys681=)
17	g.8012536G>C	CA397952388	GUCY2D	c.2043G>C (p.Lys681Asn)
17	g.8012536G>T	CA397952390	GUCY2D	c.2043G>T (p.Lys681Asn)
17	g.8012537A>C	CA397952395	GUCY2D	c.2044A>C (p.Ile682Leu)
17	g.8012537A>G	CA397952392	GUCY2D	c.2044A>G (p.Ile682Val)
17	g.8012537A>T	CA397952393	GUCY2D	c.2044A>T (p.Ile682Phe)
17	g.8012538T>A	CA397952398	GUCY2D	c.2045T>A (p.Ile682Asn)
17	g.8012538T>C	CA397952399	GUCY2D	c.2045T>C (p.Ile682Thr)
17	g.8012538T>G	CA397952401	GUCY2D	c.2045T>G (p.Ile682Ser)
17	g.8012539C>A	CA497953338	GUCY2D	c.2046C>A (p.Ile682=)
17	g.8012539C=	CA2246114470	GUCY2D	c.2046C= (p.Ile682=)
17	g.8012539C>G	CA397952403	GUCY2D	c.2046C>G (p.Ile682Met)
17	g.8012539C>T	CA8365974	GUCY2D	c.2046C>T (p.Ile682=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012540A>C	CA397952412	GUCY2D	c.2047A>C (p.Thr683Pro)
17	g.8012540A>G	CA397952410	GUCY2D	c.2047A>G (p.Thr683Ala)
17	g.8012540A>T	CA397952407	GUCY2D	c.2047A>T (p.Thr683Ser)
17	g.8012541C>A	CA397952414	GUCY2D	c.2048C>A (p.Thr683Asn)
17	g.8012541C>G	CA397952417	GUCY2D	c.2048C>G (p.Thr683Ser)
17	g.8012541C>T	CA397952415	GUCY2D	c.2048C>T (p.Thr683Ile)
17	g.8012542T>A	CA497953342	GUCY2D	c.2049T>A (p.Thr683=)
17	g.8012542T>C	CA497953344	GUCY2D	c.2049T>C (p.Thr683=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012542T>G	CA497953346	GUCY2D	c.2049T>G (p.Thr683=)
17	g.8012542T=	CA2246114472	GUCY2D	c.2049T= (p.Thr683=)
17	g.8012543G>A	CA397952419	GUCY2D	c.2050G>A (p.Asp684Asn)
17	g.8012543G>C	CA397952421	GUCY2D	c.2050G>C (p.Asp684His)
17	g.8012543G>T	CA397952423	GUCY2D	c.2050G>T (p.Asp684Tyr)	gnomAD v4
17	g.8012544A>C	CA397952425	GUCY2D	c.2051A>C (p.Asp684Ala)
17	g.8012544A>G	CA397952427	GUCY2D	c.2051A>G (p.Asp684Gly)
17	g.8012544A>T	CA397952429	GUCY2D	c.2051A>T (p.Asp684Val)
17	g.8012545C>A	CA287531258	GUCY2D	c.2052C>A (p.Asp684Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8012545C=	CA2246114475	GUCY2D	c.2052C= (p.Asp684=)
17	g.8012545C>G	CA397952432	GUCY2D	c.2052C>G (p.Asp684Glu)
17	g.8012545C>T	CA287531259	GUCY2D	c.2052C>T (p.Asp684=)	dbSNP gnomAD v4
17	g.8012546C>A	CA397952434	GUCY2D	c.2053C>A (p.His685Asn)	gnomAD v4
17	g.8012546C=	CA2246114479	GUCY2D	c.2053C= (p.His685=)
17	g.8012546C>G	CA397952436	GUCY2D	c.2053C>G (p.His685Asp)
17	g.8012546C>T	CA397952438	GUCY2D	c.2053C>T (p.His685Tyr)	dbSNP
17	g.8012547A>C	CA397952442	GUCY2D	c.2054A>C (p.His685Pro)
17	g.8012547A>G	CA397952441	GUCY2D	c.2054A>G (p.His685Arg)
17	g.8012547A>T	CA397952440	GUCY2D	c.2054A>T (p.His685Leu)
17	g.8012548C>A	CA397952443	GUCY2D	c.2055C>A (p.His685Gln)
17	g.8012548C=	CA2246114483	GUCY2D	c.2055C= (p.His685=)
17	g.8012548C>G	CA397952445	GUCY2D	c.2055C>G (p.His685Gln)
17	g.8012548C>T	CA8365975	GUCY2D	c.2055C>T (p.His685=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012549G>A	CA8365976	GUCY2D	c.2056G>A (p.Gly686Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012549G>C	CA397952449	GUCY2D	c.2056G>C (p.Gly686Arg)
17	g.8012549G=	CA2246114486	GUCY2D	c.2056G= (p.Gly686=)
17	g.8012549G>T	CA397952451	GUCY2D	c.2056G>T (p.Gly686Cys)
17	g.8012550G>A	CA397952453	GUCY2D	c.2057G>A (p.Gly686Asp)	gnomAD v4 COSMIC
17	g.8012550G>C	CA397952455	GUCY2D	c.2057G>C (p.Gly686Ala)
17	g.8012550G>T	CA397952457	GUCY2D	c.2057G>T (p.Gly686Val)
17	g.8012551C>A	CA497953364	GUCY2D	c.2058C>A (p.Gly686=)
17	g.8012551C>G	CA497953366	GUCY2D	c.2058C>G (p.Gly686=)
17	g.8012551C>T	CA497953367	GUCY2D	c.2058C>T (p.Gly686=)
17	g.8012552C>A	CA397952459	GUCY2D	c.2059C>A (p.His687Asn)
17	g.8012552C=	CA2246114491	GUCY2D	c.2059C= (p.His687=)
17	g.8012552C>G	CA397952460	GUCY2D	c.2059C>G (p.His687Asp)
17	g.8012552C>T	CA8365977	GUCY2D	c.2059C>T (p.His687Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012553A>C	CA397952465	GUCY2D	c.2060A>C (p.His687Pro)
17	g.8012553A>G	CA397952464	GUCY2D	c.2060A>G (p.His687Arg)
17	g.8012553A>T	CA397952462	GUCY2D	c.2060A>T (p.His687Leu)
17	g.8012554C>A	CA397952467	GUCY2D	c.2061C>A (p.His687Gln)
17	g.8012554C=	CA2246114494	GUCY2D	c.2061C= (p.His687=)
17	g.8012554C>G	CA397952468	GUCY2D	c.2061C>G (p.His687Gln)
17	g.8012554C>T	CA8365978	GUCY2D	c.2061C>T (p.His687=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012555G>A	CA8365979	GUCY2D	c.2062G>A (p.Gly688Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012555G>C	CA397952474	GUCY2D	c.2062G>C (p.Gly688Arg)
17	g.8012555G=	CA2246114497	GUCY2D	c.2062G= (p.Gly688=)
17	g.8012555G>T	CA397952476	GUCY2D	c.2062G>T (p.Gly688Trp)
17	g.8012556G>A	CA397952479	GUCY2D	c.2063G>A (p.Gly688Glu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.8012556G>C	CA397952480	GUCY2D	c.2063G>C (p.Gly688Ala)
17	g.8012556G=	CA2246114498	GUCY2D	c.2063G= (p.Gly688=)
17	g.8012556G>T	CA397952482	GUCY2D	c.2063G>T (p.Gly688Val)
17	g.8012557G>A	CA497953386	GUCY2D	c.2064G>A (p.Gly688=)	dbSNP gnomAD v4
17	g.8012557G>C	CA497953387	GUCY2D	c.2064G>C (p.Gly688=)
17	g.8012557G=	CA2246114501	GUCY2D	c.2064G= (p.Gly688=)
17	g.8012557G>T	CA497953389	GUCY2D	c.2064G>T (p.Gly688=)
17	g.8012558A>C	CA497953390	GUCY2D	c.2065A>C (p.Arg689=)
17	g.8012558A>G	CA397952484	GUCY2D	c.2065A>G (p.Arg689Gly)
17	g.8012558A>T	CA397952486	GUCY2D	c.2065A>T (p.Arg689Ter)
17	g.8012559G>A	CA397952489	GUCY2D	c.2066G>A (p.Arg689Lys)
17	g.8012559G>C	CA397952491	GUCY2D	c.2066G>C (p.Arg689Thr)
17	g.8012559G>T	CA397952493	GUCY2D	c.2066G>T (p.Arg689Ile)
17	g.8012560A=	CA2246114504	GUCY2D	c.2067A= (p.Arg689=)
17	g.8012560A>C	CA397952495	GUCY2D	c.2067A>C (p.Arg689Ser)
17	g.8012560A>G	CA287531283	GUCY2D	c.2067A>G (p.Arg689=)	ClinVar dbSNP
17	g.8012560A>T	CA8365980	GUCY2D	c.2067A>T (p.Arg689Ser)	dbSNP ExAC gnomAD v2
17	g.8012561C>A	CA397952499	GUCY2D	c.2068C>A (p.Leu690Met)
17	g.8012561C>G	CA397952501	GUCY2D	c.2068C>G (p.Leu690Val)
17	g.8012561C>T	CA497953397	GUCY2D	c.2068C>T (p.Leu690=)
17	g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT	CA2808393056	GUCY2D	c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT (p.Leu690ArgfsTer25)
17	g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG	CA2808393058	GUCY2D	c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG (p.Leu690ArgfsTer25)
17	g.8012562T>A	CA397952503	GUCY2D	c.2069T>A (p.Leu690Gln)
17	g.8012562T>C	CA397952505	GUCY2D	c.2069T>C (p.Leu690Pro)	gnomAD v4
17	g.8012562T>G	CA397952506	GUCY2D	c.2069T>G (p.Leu690Arg)
17	g.8012563G>A	CA497953403	GUCY2D	c.2070G>A (p.Leu690=)
17	g.8012563G>C	CA497953402	GUCY2D	c.2070G>C (p.Leu690=)
17	g.8012563G>T	CA497953400	GUCY2D	c.2070G>T (p.Leu690=)
17	g.8012564C>A	CA397952508	GUCY2D	c.2071C>A (p.Leu691Met)
17	g.8012564C>G	CA397952510	GUCY2D	c.2071C>G (p.Leu691Val)
17	g.8012564C>T	CA497953404	GUCY2D	c.2071C>T (p.Leu691=)
17	g.8012565T>A	CA397952511	GUCY2D	c.2072T>A (p.Leu691Gln)
17	g.8012565T>C	CA397952512	GUCY2D	c.2072T>C (p.Leu691Pro)
17	g.8012565T>G	CA397952515	GUCY2D	c.2072T>G (p.Leu691Arg)
17	g.8012566G>A	CA8365981	GUCY2D	c.2073G>A (p.Leu691=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012566G>C	CA497953407	GUCY2D	c.2073G>C (p.Leu691=)
17	g.8012566G=	CA2246114508	GUCY2D	c.2073G= (p.Leu691=)
17	g.8012566G>T	CA497953408	GUCY2D	c.2073G>T (p.Leu691=)
17	g.8012566_8012574delinsGGAAGCACA	CA2246114509	GUCY2D	c.2073_2081delinsGGAAGCACA (p.Leu691=)
17	g.8012567G>A	CA397952523	GUCY2D	c.2074G>A (p.Glu692Lys)	COSMIC
17	g.8012567G>C	CA397952519	GUCY2D	c.2074G>C (p.Glu692Gln)
17	g.8012567G>T	CA397952521	GUCY2D	c.2074G>T (p.Glu692Ter)
17	g.8012571_8012578del	CA226065	GUCY2D	c.2078_2085del (p.Ala693GlyfsTer20)	ClinVar dbSNP
17	g.8012568A>C	CA397952525	GUCY2D	c.2075A>C (p.Glu692Ala)
17	g.8012568A>G	CA397952526	GUCY2D	c.2075A>G (p.Glu692Gly)
17	g.8012568A>T	CA397952528	GUCY2D	c.2075A>T (p.Glu692Val)
17	g.8012569A=	CA2246114516	GUCY2D	c.2076A= (p.Glu692=)
17	g.8012569A>C	CA397952530	GUCY2D	c.2076A>C (p.Glu692Asp)
17	g.8012569A>G	CA8365982	GUCY2D	c.2076A>G (p.Glu692=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012569A>T	CA397952532	GUCY2D	c.2076A>T (p.Glu692Asp)
17	g.8012570G>A	CA397952535	GUCY2D	c.2077G>A (p.Ala693Thr)
17	g.8012570G>C	CA397952537	GUCY2D	c.2077G>C (p.Ala693Pro)
17	g.8012570G>T	CA397952538	GUCY2D	c.2077G>T (p.Ala693Ser)	gnomAD v4
17	g.8012571C>A	CA8365983	GUCY2D	c.2078C>A (p.Ala693Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012571C=	CA2246114519	GUCY2D	c.2078C= (p.Ala693=)
17	g.8012571C>G	CA397952541	GUCY2D	c.2078C>G (p.Ala693Gly)
17	g.8012571C>T	CA397952542	GUCY2D	c.2078C>T (p.Ala693Val)
17	g.8012572A>C	CA497953418	GUCY2D	c.2079A>C (p.Ala693=)
17	g.8012572A>G	CA497953421	GUCY2D	c.2079A>G (p.Ala693=)
17	g.8012572A>T	CA497953422	GUCY2D	c.2079A>T (p.Ala693=)
17	g.8012573C>A	CA226066	GUCY2D	c.2080C>A (p.Gln694Lys)	ClinVar dbSNP
17	g.8012573C=	CA2246114530	GUCY2D	c.2080C= (p.Gln694=)
17	g.8012573C>G	CA8365984	GUCY2D	c.2080C>G (p.Gln694Glu)	dbSNP ExAC
17	g.8012573C>T	CA8365985	GUCY2D	c.2080C>T (p.Gln694Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012574A>C	CA397952548	GUCY2D	c.2081A>C (p.Gln694Pro)
17	g.8012574A>G	CA397952551	GUCY2D	c.2081A>G (p.Gln694Arg)
17	g.8012574A>T	CA397952549	GUCY2D	c.2081A>T (p.Gln694Leu)
17	g.8012576_8012578del	CA2576160314	GUCY2D	c.2083_2085del (p.Lys695del)
17	g.8012575G>A	CA287531337	GUCY2D	c.2082G>A (p.Gln694=)	ClinVar dbSNP
17	g.8012575G>C	CA397952553	GUCY2D	c.2082G>C (p.Gln694His)
17	g.8012575G=	CA2246114534	GUCY2D	c.2082G= (p.Gln694=)
17	g.8012575G>T	CA397952554	GUCY2D	c.2082G>T (p.Gln694His)	COSMIC
17	g.8012576A>C	CA397952556	GUCY2D	c.2083A>C (p.Lys695Gln)
17	g.8012576A>G	CA397952558	GUCY2D	c.2083A>G (p.Lys695Glu)
17	g.8012576A>T	CA397952560	GUCY2D	c.2083A>T (p.Lys695Ter)
17	g.8012576_8012577insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA	CA8365986	GUCY2D	c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA (p.Lys695ThrfsTer12)	ExAC
17	g.8012577A=	CA2246114538	GUCY2D	c.2084A= (p.Lys695=)
17	g.8012577A>C	CA397952562	GUCY2D	c.2084A>C (p.Lys695Thr)
17	g.8012577A>G	CA397952564	GUCY2D	c.2084A>G (p.Lys695Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012577A>T	CA397952566	GUCY2D	c.2084A>T (p.Lys695Met)
17	g.8012578G>A	CA497953434	GUCY2D	c.2085G>A (p.Lys695=)	gnomAD v4
17	g.8012578G>C	CA397952568	GUCY2D	c.2085G>C (p.Lys695Asn)
17	g.8012578G>T	CA397952570	GUCY2D	c.2085G>T (p.Lys695Asn)
17	g.8012579G>A	CA397952576	GUCY2D	c.2086G>A (p.Val696Met)
17	g.8012579G>C	CA397952574	GUCY2D	c.2086G>C (p.Val696Leu)
17	g.8012579G>T	CA397952572	GUCY2D	c.2086G>T (p.Val696Leu)	dbSNP gnomAD v4
17	g.8012580T>A	CA397952581	GUCY2D	c.2087T>A (p.Val696Glu)
17	g.8012580T>C	CA397952577	GUCY2D	c.2087T>C (p.Val696Ala)
17	g.8012580T>G	CA397952579	GUCY2D	c.2087T>G (p.Val696Gly)	dbSNP
17	g.8012580T=	CA2246114539	GUCY2D	c.2087T= (p.Val696=)
17	g.8012581G>A	CA497953443	GUCY2D	c.2088G>A (p.Val696=)
17	g.8012581G>C	CA497953445	GUCY2D	c.2088G>C (p.Val696=)
17	g.8012581G>T	CA497953446	GUCY2D	c.2088G>T (p.Val696=)
17	g.8012582C>A	CA397952583	GUCY2D	c.2089C>A (p.Leu697Ile)
17	g.8012582C>G	CA397952585	GUCY2D	c.2089C>G (p.Leu697Val)
17	g.8012582C>T	CA497953450	GUCY2D	c.2089C>T (p.Leu697=)
17	g.8012583T>A	CA397952587	GUCY2D	c.2090T>A (p.Leu697Gln)
17	g.8012583T>C	CA397952589	GUCY2D	c.2090T>C (p.Leu697Pro)
17	g.8012583T>G	CA397952590	GUCY2D	c.2090T>G (p.Leu697Arg)
17	g.8012584A>C	CA497953454	GUCY2D	c.2091A>C (p.Leu697=)
17	g.8012584A>G	CA497953455	GUCY2D	c.2091A>G (p.Leu697=)
17	g.8012584A>T	CA497953456	GUCY2D	c.2091A>T (p.Leu697=)
17	g.8012585C>A	CA397952592	GUCY2D	c.2092C>A (p.Pro698Thr)
17	g.8012585C=	CA2246114543	GUCY2D	c.2092C= (p.Pro698=)
17	g.8012585C>G	CA397952595	GUCY2D	c.2092C>G (p.Pro698Ala)
17	g.8012585C>T	CA8365987	GUCY2D	c.2092C>T (p.Pro698Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012586C>A	CA397952597	GUCY2D	c.2093C>A (p.Pro698Gln)
17	g.8012586C=	CA2246114547	GUCY2D	c.2093C= (p.Pro698=)
17	g.8012586C>G	CA8365988	GUCY2D	c.2093C>G (p.Pro698Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012586C>T	CA8365989	GUCY2D	c.2093C>T (p.Pro698Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012587G>A	CA8365990	GUCY2D	c.2094G>A (p.Pro698=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8012587G>C	CA497953458	GUCY2D	c.2094G>C (p.Pro698=)	gnomAD v4
17	g.8012587G=	CA2246114549	GUCY2D	c.2094G= (p.Pro698=)
17	g.8012587G>T	CA497953459	GUCY2D	c.2094G>T (p.Pro698=)
17	g.8012588G>A	CA397952602	GUCY2D	c.2095G>A (p.Glu699Lys)
17	g.8012588G>C	CA397952606	GUCY2D	c.2095G>C (p.Glu699Gln)
17	g.8012588G>T	CA397952604	GUCY2D	c.2095G>T (p.Glu699Ter)
17	g.8012589A>C	CA397952608	GUCY2D	c.2096A>C (p.Glu699Ala)
17	g.8012589A>G	CA397952609	GUCY2D	c.2096A>G (p.Glu699Gly)	gnomAD v4
17	g.8012589A>T	CA397952611	GUCY2D	c.2096A>T (p.Glu699Val)
17	g.8012590G>A	CA287531371	GUCY2D	c.2097G>A (p.Glu699=)	dbSNP gnomAD v3 gnomAD v4
17	g.8012590G>C	CA397952612	GUCY2D	c.2097G>C (p.Glu699Asp)	COSMIC
17	g.8012590G=	CA2246114552	GUCY2D	c.2097G= (p.Glu699=)
17	g.8012590G>T	CA397952613	GUCY2D	c.2097G>T (p.Glu699Asp)
17	g.8012591C>A	CA397952616	GUCY2D	c.2098C>A (p.Pro700Thr)
17	g.8012591C=	CA2246114556	GUCY2D	c.2098C= (p.Pro700=)
17	g.8012591C>G	CA397952617	GUCY2D	c.2098C>G (p.Pro700Ala)	dbSNP gnomAD v4
17	g.8012591C>T	CA397952619	GUCY2D	c.2098C>T (p.Pro700Ser)
17	g.8012592C>A	CA397952621	GUCY2D	c.2099C>A (p.Pro700His)
17	g.8012592C=	CA2246114558	GUCY2D	c.2099C= (p.Pro700=)
17	g.8012592C>G	CA287531372	GUCY2D	c.2099C>G (p.Pro700Arg)	dbSNP
17	g.8012592C>T	CA397952624	GUCY2D	c.2099C>T (p.Pro700Leu)
17	g.8012593T>A	CA497953469	GUCY2D	c.2100T>A (p.Pro700=)
17	g.8012593T>C	CA497953471	GUCY2D	c.2100T>C (p.Pro700=)	dbSNP gnomAD v2 gnomAD v4
17	g.8012593T>G	CA497953470	GUCY2D	c.2100T>G (p.Pro700=)
17	g.8012593T=	CA2246114561	GUCY2D	c.2100T= (p.Pro700=)
17	g.8012594C>A	CA397952627	GUCY2D	c.2101C>A (p.Pro701Thr)
17	g.8012594C=	CA2246114565	GUCY2D	c.2101C= (p.Pro701=)
17	g.8012594C>G	CA397952629	GUCY2D	c.2101C>G (p.Pro701Ala)
17	g.8012594C>T	CA200657	GUCY2D	c.2101C>T (p.Pro701Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012595C>A	CA397952631	GUCY2D	c.2102C>A (p.Pro701His)
17	g.8012595C=	CA2246114572	GUCY2D	c.2102C= (p.Pro701=)
17	g.8012595C>G	CA397952635	GUCY2D	c.2102C>G (p.Pro701Arg)
17	g.8012595C>T	CA397952633	GUCY2D	c.2102C>T (p.Pro701Leu)	dbSNP gnomAD v4
17	g.8012596C>A	CA497953472	GUCY2D	c.2103C>A (p.Pro701=)
17	g.8012596C>G	CA497953474	GUCY2D	c.2103C>G (p.Pro701=)
17	g.8012596C>T	CA497953475	GUCY2D	c.2103C>T (p.Pro701=)	ClinVar
17	g.8012597A=	CA2246114574	GUCY2D	c.2104A= (p.Arg702=)
17	g.8012597A>C	CA497953477	GUCY2D	c.2104A>C (p.Arg702=)
17	g.8012597A>G	CA287531373	GUCY2D	c.2104A>G (p.Arg702Gly)	dbSNP
17	g.8012597A>T	CA397952636	GUCY2D	c.2104A>T (p.Arg702Ter)
17	g.8012598G>A	CA397952638	GUCY2D	c.2105G>A (p.Arg702Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012598G>C	CA397952640	GUCY2D	c.2105G>C (p.Arg702Thr)
17	g.8012598G=	CA2246114580	GUCY2D	c.2105G= (p.Arg702=)
17	g.8012598G>T	CA397952642	GUCY2D	c.2105G>T (p.Arg702Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012599A>C	CA397952644	GUCY2D	c.2106A>C (p.Arg702Ser)
17	g.8012599A>G	CA497953478	GUCY2D	c.2106A>G (p.Arg702=)
17	g.8012599A>T	CA397952646	GUCY2D	c.2106A>T (p.Arg702Ser)
17	g.8012600G>A	CA397952648	GUCY2D	c.2107G>A (p.Ala703Thr)	ClinVar dbSNP gnomAD v4
17	g.8012600G>C	CA397952650	GUCY2D	c.2107G>C (p.Ala703Pro)
17	g.8012600G=	CA2246114582	GUCY2D	c.2107G= (p.Ala703=)
17	g.8012600G>T	CA397952652	GUCY2D	c.2107G>T (p.Ala703Ser)
17	g.8012601C>A	CA397952657	GUCY2D	c.2108C>A (p.Ala703Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.8012601C=	CA2246114588	GUCY2D	c.2108C= (p.Ala703=)
17	g.8012601C>G	CA397952655	GUCY2D	c.2108C>G (p.Ala703Gly)
17	g.8012601C>T	CA8365991	GUCY2D	c.2108C>T (p.Ala703Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012602G>A	CA226068	GUCY2D	c.2109G>A (p.Ala703=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012602G>C	CA497953484	GUCY2D	c.2109G>C (p.Ala703=)	dbSNP
17	g.8012602G=	CA2246114593	GUCY2D	c.2109G= (p.Ala703=)
17	g.8012602G>T	CA497953485	GUCY2D	c.2109G>T (p.Ala703=)	dbSNP gnomAD v4
17	g.8012603G>A	CA8365992	GUCY2D	c.2110G>A (p.Glu704Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012603G>C	CA397952661	GUCY2D	c.2110G>C (p.Glu704Gln)
17	g.8012603G=	CA2246114598	GUCY2D	c.2110G= (p.Glu704=)
17	g.8012603G>T	CA397952663	GUCY2D	c.2110G>T (p.Glu704Ter)
17	g.8012604A>C	CA397952665	GUCY2D	c.2111A>C (p.Glu704Ala)
17	g.8012604A>G	CA397952667	GUCY2D	c.2111A>G (p.Glu704Gly)
17	g.8012604A>T	CA397952668	GUCY2D	c.2111A>T (p.Glu704Val)

Number of alleles fetched