Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8012459_8012475del	CA2635949843	GUCY2D	c.1966_1982del (p.Tyr656ArgfsTer23)	gnomAD v4
17	g.8012468C>A	CA397952090	GUCY2D	c.1975C>A (p.His659Asn)
17	g.8012468C=	CA2246114321	GUCY2D	c.1975C= (p.His659=)
17	g.8012468C>G	CA397952093	GUCY2D	c.1975C>G (p.His659Asp)
17	g.8012468C>T	CA397952095	GUCY2D	c.1975C>T (p.His659Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.8012469A=	CA2246114326	GUCY2D	c.1976A= (p.His659=)
17	g.8012469A>C	CA397952098	GUCY2D	c.1976A>C (p.His659Pro)
17	g.8012469A>G	CA8365960	GUCY2D	c.1976A>G (p.His659Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012469A>T	CA397952104	GUCY2D	c.1976A>T (p.His659Leu)
17	g.8012470T>A	CA397952106	GUCY2D	c.1977T>A (p.His659Gln)
17	g.8012470T>C	CA497953163	GUCY2D	c.1977T>C (p.His659=)	ClinVar dbSNP
17	g.8012470T>G	CA397952108	GUCY2D	c.1977T>G (p.His659Gln)
17	g.8012471C>A	CA497953167	GUCY2D	c.1978C>A (p.Arg660=)
17	g.8012471C=	CA2246114337	GUCY2D	c.1978C= (p.Arg660=)
17	g.8012471C>G	CA397952110	GUCY2D	c.1978C>G (p.Arg660Gly)	ClinVar dbSNP
17	g.8012471C>T	CA226062	GUCY2D	c.1978C>T (p.Arg660Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012472G>A	CA226064	GUCY2D	c.1979G>A (p.Arg660Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8012472G>C	CA397952114	GUCY2D	c.1979G>C (p.Arg660Pro)
17	g.8012472G=	CA2246114350	GUCY2D	c.1979G= (p.Arg660=)
17	g.8012472G>T	CA397952112	GUCY2D	c.1979G>T (p.Arg660Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.8012473A>C	CA497953170	GUCY2D	c.1980A>C (p.Arg660=)
17	g.8012473A>G	CA497953171	GUCY2D	c.1980A>G (p.Arg660=)
17	g.8012473A>T	CA497953172	GUCY2D	c.1980A>T (p.Arg660=)
17	g.8012474G>A	CA397952116	GUCY2D	c.1981G>A (p.Gly661Ser)
17	g.8012474G>C	CA397952118	GUCY2D	c.1981G>C (p.Gly661Arg)	dbSNP
17	g.8012474G=	CA2246114354	GUCY2D	c.1981G= (p.Gly661=)
17	g.8012474G>T	CA397952120	GUCY2D	c.1981G>T (p.Gly661Cys)
17	g.8012475G>A	CA397952122	GUCY2D	c.1982G>A (p.Gly661Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.8012475G>C	CA397952124	GUCY2D	c.1982G>C (p.Gly661Ala)
17	g.8012475G=	CA2246114368	GUCY2D	c.1982G= (p.Gly661=)
17	g.8012475G>T	CA397952126	GUCY2D	c.1982G>T (p.Gly661Val)
17	g.8012476C>A	CA497953176	GUCY2D	c.1983C>A (p.Gly661=)
17	g.8012476C=	CA2246114374	GUCY2D	c.1983C= (p.Gly661=)
17	g.8012476C>G	CA497953175	GUCY2D	c.1983C>G (p.Gly661=)
17	g.8012476C>T	CA8365961	GUCY2D	c.1983C>T (p.Gly661=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.8012477G>A	CA8365962	GUCY2D	c.1984G>A (p.Val662Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8012477G>C	CA397952130	GUCY2D	c.1984G>C (p.Val662Leu)
17	g.8012477G=	CA2246114384	GUCY2D	c.1984G= (p.Val662=)
17	g.8012477G>T	CA397952132	GUCY2D	c.1984G>T (p.Val662Leu)
17	g.8012478T>A	CA397952134	GUCY2D	c.1985T>A (p.Val662Glu)
17	g.8012478T>C	CA397952136	GUCY2D	c.1985T>C (p.Val662Ala)
17	g.8012478T>G	CA397952138	GUCY2D	c.1985T>G (p.Val662Gly)
17	g.8012479G>A	CA497953184	GUCY2D	c.1986G>A (p.Val662=)	dbSNP gnomAD v2 gnomAD v4
17	g.8012479G>C	CA497953183	GUCY2D	c.1986G>C (p.Val662=)
17	g.8012479G=	CA2246114414	GUCY2D	c.1986G= (p.Val662=)
17	g.8012479G>T	CA497953182	GUCY2D	c.1986G>T (p.Val662=)
17	g.8012480G>A	CA8365963	GUCY2D	c.1987G>A (p.Ala663Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012480G>C	CA397952140	GUCY2D	c.1987G>C (p.Ala663Pro)
17	g.8012480G=	CA2246114415	GUCY2D	c.1987G= (p.Ala663=)
17	g.8012480G>T	CA397952143	GUCY2D	c.1987G>T (p.Ala663Ser)	gnomAD v4
17	g.8012481C>A	CA397952145	GUCY2D	c.1988C>A (p.Ala663Asp)
17	g.8012481C>G	CA397952147	GUCY2D	c.1988C>G (p.Ala663Gly)
17	g.8012481C>T	CA397952149	GUCY2D	c.1988C>T (p.Ala663Val)
17	g.8012482T>A	CA497953189	GUCY2D	c.1989T>A (p.Ala663=)
17	g.8012482T>C	CA497953192	GUCY2D	c.1989T>C (p.Ala663=)
17	g.8012482T>G	CA497953190	GUCY2D	c.1989T>G (p.Ala663=)	gnomAD v4
17	g.8012483C>A	CA397952151	GUCY2D	c.1990C>A (p.His664Asn)
17	g.8012483C>G	CA397952153	GUCY2D	c.1990C>G (p.His664Asp)	COSMIC
17	g.8012483C>T	CA397952155	GUCY2D	c.1990C>T (p.His664Tyr)
17	g.8012484A=	CA2246114416	GUCY2D	c.1991A= (p.His664=)
17	g.8012484A>C	CA397952157	GUCY2D	c.1991A>C (p.His664Pro)	dbSNP gnomAD v4
17	g.8012484A>G	CA397952159	GUCY2D	c.1991A>G (p.His664Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012484A>T	CA397952161	GUCY2D	c.1991A>T (p.His664Leu)
17	g.8012485T>A	CA397952163	GUCY2D	c.1992T>A (p.His664Gln)	gnomAD v4
17	g.8012485T>C	CA497953196	GUCY2D	c.1992T>C (p.His664=)	dbSNP gnomAD v4
17	g.8012485T>G	CA397952164	GUCY2D	c.1992T>G (p.His664Gln)	ClinVar dbSNP
17	g.8012485T=	CA2246114417	GUCY2D	c.1992T= (p.His664=)
17	g.8012486G>A	CA397952167	GUCY2D	c.1993G>A (p.Gly665Arg)
17	g.8012486G>C	CA397952171	GUCY2D	c.1993G>C (p.Gly665Arg)
17	g.8012486G>T	CA397952169	GUCY2D	c.1993G>T (p.Gly665Trp)
17	g.8012487G>A	CA397952174	GUCY2D	c.1994G>A (p.Gly665Glu)
17	g.8012487G>C	CA397952176	GUCY2D	c.1994G>C (p.Gly665Ala)
17	g.8012487G>T	CA397952175	GUCY2D	c.1994G>T (p.Gly665Val)
17	g.8012488G>A	CA497953205	GUCY2D	c.1995G>A (p.Gly665=)
17	g.8012488G>C	CA497953206	GUCY2D	c.1995G>C (p.Gly665=)
17	g.8012488G>T	CA497953207	GUCY2D	c.1995G>T (p.Gly665=)
17	g.8012489C>A	CA497953208	GUCY2D	c.1996C>A (p.Arg666=)
17	g.8012489C=	CA2246114418	GUCY2D	c.1996C= (p.Arg666=)
17	g.8012489C>G	CA397952178	GUCY2D	c.1996C>G (p.Arg666Gly)
17	g.8012489C>T	CA8365964	GUCY2D	c.1996C>T (p.Arg666Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012490G>A	CA8365965	GUCY2D	c.1997G>A (p.Arg666Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012490G>C	CA397952182	GUCY2D	c.1997G>C (p.Arg666Pro)
17	g.8012490G=	CA2246114419	GUCY2D	c.1997G= (p.Arg666=)
17	g.8012490G>T	CA397952184	GUCY2D	c.1997G>T (p.Arg666Leu)
17	g.8012491G>A	CA497953211	GUCY2D	c.1998G>A (p.Arg666=)
17	g.8012491G>C	CA497953213	GUCY2D	c.1998G>C (p.Arg666=)
17	g.8012491G>T	CA497953214	GUCY2D	c.1998G>T (p.Arg666=)
17	g.8012492C>A	CA397952186	GUCY2D	c.1999C>A (p.Leu667Met)
17	g.8012492C=	CA2246114421	GUCY2D	c.1999C= (p.Leu667=)
17	g.8012492C>G	CA397952188	GUCY2D	c.1999C>G (p.Leu667Val)
17	g.8012492C>T	CA8365966	GUCY2D	c.1999C>T (p.Leu667=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012493T>A	CA397952191	GUCY2D	c.2000T>A (p.Leu667Gln)
17	g.8012493T>C	CA397952193	GUCY2D	c.2000T>C (p.Leu667Pro)
17	g.8012493T>G	CA397952195	GUCY2D	c.2000T>G (p.Leu667Arg)
17	g.8012494del	CA2635949867	GUCY2D	c.2001del (p.Lys668SerfsTer6)	gnomAD v4
17	g.8012494G>A	CA497953223	GUCY2D	c.2001G>A (p.Leu667=)
17	g.8012494G>C	CA497953225	GUCY2D	c.2001G>C (p.Leu667=)
17	g.8012494G>T	CA497953227	GUCY2D	c.2001G>T (p.Leu667=)
17	g.8012495A>C	CA397952199	GUCY2D	c.2002A>C (p.Lys668Gln)
17	g.8012495A>G	CA397952198	GUCY2D	c.2002A>G (p.Lys668Glu)
17	g.8012495A>T	CA397952196	GUCY2D	c.2002A>T (p.Lys668Ter)
17	g.8012496A>C	CA397952201	GUCY2D	c.2003A>C (p.Lys668Thr)
17	g.8012496A>G	CA397952203	GUCY2D	c.2003A>G (p.Lys668Arg)
17	g.8012496A>T	CA397952204	GUCY2D	c.2003A>T (p.Lys668Met)
17	g.8012497G>A	CA497953235	GUCY2D	c.2004G>A (p.Lys668=)
17	g.8012497G>C	CA397952207	GUCY2D	c.2004G>C (p.Lys668Asn)
17	g.8012497G>T	CA397952209	GUCY2D	c.2004G>T (p.Lys668Asn)
17	g.8012497_8012501delinsGTCAC	CA2246114423	GUCY2D	c.2004_2008delinsGTCAC (p.Lys668=)
17	g.8012498T>A	CA397952211	GUCY2D	c.2005T>A (p.Ser669Thr)
17	g.8012498T>C	CA397952213	GUCY2D	c.2005T>C (p.Ser669Pro)
17	g.8012498T>G	CA397952215	GUCY2D	c.2005T>G (p.Ser669Ala)
17	g.8012498_8012501del	CA287531193	GUCY2D	c.2005_2008del (p.Ser669GlyfsTer4)	dbSNP gnomAD v4
17	g.8012499C>A	CA397952219	GUCY2D	c.2006C>A (p.Ser669Ter)	gnomAD v4
17	g.8012499C>G	CA397952220	GUCY2D	c.2006C>G (p.Ser669Ter)	ClinVar dbSNP
17	g.8012499C>T	CA397952222	GUCY2D	c.2006C>T (p.Ser669Leu)
17	g.8012500A>C	CA497953241	GUCY2D	c.2007A>C (p.Ser669=)
17	g.8012500A>G	CA497953245	GUCY2D	c.2007A>G (p.Ser669=)
17	g.8012500A>T	CA497953246	GUCY2D	c.2007A>T (p.Ser669=)
17	g.8012501C>A	CA497953247	GUCY2D	c.2008C>A (p.Arg670=)
17	g.8012501C=	CA2246114424	GUCY2D	c.2008C= (p.Arg670=)
17	g.8012501C>G	CA397952224	GUCY2D	c.2008C>G (p.Arg670Gly)
17	g.8012501C>T	CA287531201	GUCY2D	c.2008C>T (p.Arg670Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012502G>A	CA8365967	GUCY2D	c.2009G>A (p.Arg670Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8012502G>C	CA397952229	GUCY2D	c.2009G>C (p.Arg670Pro)
17	g.8012502G=	CA2246114425	GUCY2D	c.2009G= (p.Arg670=)
17	g.8012502G>T	CA397952231	GUCY2D	c.2009G>T (p.Arg670Leu)
17	g.8012503G>A	CA8365968	GUCY2D	c.2010G>A (p.Arg670=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.8012503G>C	CA497953251	GUCY2D	c.2010G>C (p.Arg670=)
17	g.8012503G=	CA2246114426	GUCY2D	c.2010G= (p.Arg670=)
17	g.8012503G>T	CA497953249	GUCY2D	c.2010G>T (p.Arg670=)
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)

Number of alleles fetched