Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8012171G>A	CA397951261	GUCY2D	c.1777G>A (p.Ala593Thr)
17	g.8012171G>C	CA397951258	GUCY2D	c.1777G>C (p.Ala593Pro)
17	g.8012171G=	CA2246113574	GUCY2D	c.1777G= (p.Ala593=)
17	g.8012171G>T	CA8365897	GUCY2D	c.1777G>T (p.Ala593Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012172C>A	CA397951262	GUCY2D	c.1778C>A (p.Ala593Asp)
17	g.8012172C=	CA2246113584	GUCY2D	c.1778C= (p.Ala593=)
17	g.8012172C>G	CA397951264	GUCY2D	c.1778C>G (p.Ala593Gly)
17	g.8012172C>T	CA397951266	GUCY2D	c.1778C>T (p.Ala593Val)	dbSNP gnomAD v4
17	g.8012173C>A	CA497953019	GUCY2D	c.1779C>A (p.Ala593=)
17	g.8012173C=	CA2246113585	GUCY2D	c.1779C= (p.Ala593=)
17	g.8012173C>G	CA497953020	GUCY2D	c.1779C>G (p.Ala593=)	dbSNP
17	g.8012173C>T	CA497953022	GUCY2D	c.1779C>T (p.Ala593=)	ClinVar dbSNP
17	g.8012174C>A	CA397951268	GUCY2D	c.1780C>A (p.Leu594Ile)
17	g.8012174C>G	CA397951270	GUCY2D	c.1780C>G (p.Leu594Val)
17	g.8012174C>T	CA397951272	GUCY2D	c.1780C>T (p.Leu594Phe)	ClinVar gnomAD v4
17	g.8012174_8012177del	CA2635949707	GUCY2D	c.1780_1783del (p.Leu594ThrfsTer?)	ClinVar gnomAD v4
17	g.8012175T>A	CA397951274	GUCY2D	c.1781T>A (p.Leu594His)	ClinVar
17	g.8012175T>C	CA397951276	GUCY2D	c.1781T>C (p.Leu594Pro)	gnomAD v4
17	g.8012175T>G	CA397951278	GUCY2D	c.1781T>G (p.Leu594Arg)
17	g.8012176C>A	CA497953028	GUCY2D	c.1782C>A (p.Leu594=)
17	g.8012176C>G	CA497953030	GUCY2D	c.1782C>G (p.Leu594=)	gnomAD v4
17	g.8012176C>T	CA497953027	GUCY2D	c.1782C>T (p.Leu594=)
17	g.8012178_8012181del	CA2740095238	GUCY2D	c.1784_1787del (p.Tyr595TrpfsTer?)	ClinVar
17	g.8012177T>A	CA397951280	GUCY2D	c.1783T>A (p.Tyr595Asn)
17	g.8012177T>C	CA397951282	GUCY2D	c.1783T>C (p.Tyr595His)	gnomAD v4
17	g.8012177T>G	CA397951284	GUCY2D	c.1783T>G (p.Tyr595Asp)
17	g.8012178A>C	CA397951288	GUCY2D	c.1784A>C (p.Tyr595Ser)
17	g.8012178A>G	CA397951290	GUCY2D	c.1784A>G (p.Tyr595Cys)
17	g.8012178A>T	CA397951286	GUCY2D	c.1784A>T (p.Tyr595Phe)
17	g.8012179C>A	CA397951292	GUCY2D	c.1785C>A (p.Tyr595Ter)	gnomAD v4
17	g.8012179C=	CA2246113587	GUCY2D	c.1785C= (p.Tyr595=)
17	g.8012179C>G	CA397951294	GUCY2D	c.1785C>G (p.Tyr595Ter)
17	g.8012179C>T	CA287530839	GUCY2D	c.1785C>T (p.Tyr595=)	dbSNP gnomAD v2 gnomAD v4
17	g.8012180C>A	CA397951296	GUCY2D	c.1786C>A (p.Leu596Met)
17	g.8012180C=	CA2246113592	GUCY2D	c.1786C= (p.Leu596=)
17	g.8012180C>G	CA397951297	GUCY2D	c.1786C>G (p.Leu596Val)	dbSNP
17	g.8012180C>T	CA497953037	GUCY2D	c.1786C>T (p.Leu596=)
17	g.8012181T>A	CA8365898	GUCY2D	c.1787T>A (p.Leu596Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012181T>C	CA8365899	GUCY2D	c.1787T>C (p.Leu596Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012181T>G	CA397951300	GUCY2D	c.1787T>G (p.Leu596Arg)
17	g.8012181T=	CA2246113597	GUCY2D	c.1787T= (p.Leu596=)
17	g.8012182G>A	CA497953041	GUCY2D	c.1788G>A (p.Leu596=)
17	g.8012182G>C	CA497953042	GUCY2D	c.1788G>C (p.Leu596=)
17	g.8012182G>T	CA497953044	GUCY2D	c.1788G>T (p.Leu596=)
17	g.8012183G>A	CA397951303	GUCY2D	c.1789G>A (p.Gly597Arg)	COSMIC
17	g.8012183G>C	CA397951305	GUCY2D	c.1789G>C (p.Gly597Arg)	gnomAD v4
17	g.8012183G>T	CA397951306	GUCY2D	c.1789G>T (p.Gly597Trp)
17	g.8012184G>A	CA287530846	GUCY2D	c.1790G>A (p.Gly597Glu)	dbSNP
17	g.8012184G>C	CA397951309	GUCY2D	c.1790G>C (p.Gly597Ala)
17	g.8012184G=	CA2246113602	GUCY2D	c.1790G= (p.Gly597=)
17	g.8012184G>T	CA397951310	GUCY2D	c.1790G>T (p.Gly597Val)
17	g.8012185G>A	CA8365900	GUCY2D	c.1791G>A (p.Gly597=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012185G>C	CA497953049	GUCY2D	c.1791G>C (p.Gly597=)
17	g.8012185G=	CA2246113610	GUCY2D	c.1791G= (p.Gly597=)
17	g.8012185G>T	CA497953050	GUCY2D	c.1791G>T (p.Gly597=)	COSMIC
17	g.8012186C>A	CA397951318	GUCY2D	c.1792C>A (p.Leu598Ile)	dbSNP gnomAD v3 gnomAD v4
17	g.8012186C=	CA2246113613	GUCY2D	c.1792C= (p.Leu598=)
17	g.8012186C>G	CA397951314	GUCY2D	c.1792C>G (p.Leu598Val)
17	g.8012186C>T	CA397951316	GUCY2D	c.1792C>T (p.Leu598Phe)	gnomAD v4
17	g.8012187T>A	CA397951320	GUCY2D	c.1793T>A (p.Leu598His)
17	g.8012187T>C	CA397951322	GUCY2D	c.1793T>C (p.Leu598Pro)
17	g.8012187T>G	CA397951324	GUCY2D	c.1793T>G (p.Leu598Arg)
17	g.8012188T>A	CA497953060	GUCY2D	c.1794T>A (p.Leu598=)
17	g.8012188T>C	CA497953061	GUCY2D	c.1794T>C (p.Leu598=)
17	g.8012188T>G	CA497953062	GUCY2D	c.1794T>G (p.Leu598=)
17	g.8012189T>A	CA397951326	GUCY2D	c.1795T>A (p.Phe599Ile)
17	g.8012189T>C	CA397951327	GUCY2D	c.1795T>C (p.Phe599Leu)
17	g.8012189T>G	CA397951329	GUCY2D	c.1795T>G (p.Phe599Val)
17	g.8012190T>A	CA397951331	GUCY2D	c.1796T>A (p.Phe599Tyr)
17	g.8012190T>C	CA397951332	GUCY2D	c.1796T>C (p.Phe599Ser)
17	g.8012190T>G	CA397951334	GUCY2D	c.1796T>G (p.Phe599Cys)
17	g.8012191C>A	CA397951336	GUCY2D	c.1797C>A (p.Phe599Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.8012191C=	CA2246113619	GUCY2D	c.1797C= (p.Phe599=)
17	g.8012191C>G	CA397951338	GUCY2D	c.1797C>G (p.Phe599Leu)
17	g.8012191C>T	CA497953067	GUCY2D	c.1797C>T (p.Phe599=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.8012192C>A	CA8365901	GUCY2D	c.1798C>A (p.Leu600Met)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012192C=	CA2246113622	GUCY2D	c.1798C= (p.Leu600=)
17	g.8012192C>G	CA397951339	GUCY2D	c.1798C>G (p.Leu600Val)
17	g.8012192C>T	CA497953070	GUCY2D	c.1798C>T (p.Leu600=)
17	g.8012193T>A	CA397951342	GUCY2D	c.1799T>A (p.Leu600Gln)
17	g.8012193T>C	CA397951343	GUCY2D	c.1799T>C (p.Leu600Pro)
17	g.8012193T>G	CA397951344	GUCY2D	c.1799T>G (p.Leu600Arg)
17	g.8012194G>A	CA497953075	GUCY2D	c.1800G>A (p.Leu600=)
17	g.8012194G>C	CA497953076	GUCY2D	c.1800G>C (p.Leu600=)
17	g.8012194G>T	CA497953078	GUCY2D	c.1800G>T (p.Leu600=)
17	g.8012195G>A	CA397951345	GUCY2D	c.1801G>A (p.Ala601Thr)
17	g.8012195G>C	CA397951346	GUCY2D	c.1801G>C (p.Ala601Pro)
17	g.8012195G>T	CA397951347	GUCY2D	c.1801G>T (p.Ala601Ser)
17	g.8012196C>A	CA397951349	GUCY2D	c.1802C>A (p.Ala601Asp)
17	g.8012196C=	CA2246113624	GUCY2D	c.1802C= (p.Ala601=)
17	g.8012196C>G	CA397951351	GUCY2D	c.1802C>G (p.Ala601Gly)
17	g.8012196C>T	CA8365902	GUCY2D	c.1802C>T (p.Ala601Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.8012197T>A	CA497953086	GUCY2D	c.1803T>A (p.Ala601=)
17	g.8012197T>C	CA497953089	GUCY2D	c.1803T>C (p.Ala601=)
17	g.8012197T>G	CA497953087	GUCY2D	c.1803T>G (p.Ala601=)
17	g.8012198C>A	CA497953090	GUCY2D	c.1804C>A (p.Arg602=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012198C=	CA2246113633	GUCY2D	c.1804C= (p.Arg602=)
17	g.8012198C>G	CA8365904	GUCY2D	c.1804C>G (p.Arg602Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012198C>T	CA8365903	GUCY2D	c.1804C>T (p.Arg602Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012198_8012199delinsCG	CA2246113640	GUCY2D	c.1804_1805delinsCG (p.Arg602=)
17	g.8012199G>A	CA8365905	GUCY2D	c.1805G>A (p.Arg602Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.8012199G>C	CA397951357	GUCY2D	c.1805G>C (p.Arg602Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.8012199G=	CA2246113651	GUCY2D	c.1805G= (p.Arg602=)
17	g.8012199G>T	CA397951359	GUCY2D	c.1805G>T (p.Arg602Leu)
17	g.8012202del	CA624867855	GUCY2D	c.1808del (p.Gly603GlufsTer?)	dbSNP gnomAD v2 gnomAD v4
17	g.8012199_8012223del	CA2695224518	GUCY2D	c.1805_1829del (p.Arg602ProfsTer27)
17	g.8012199_8012224delinsGGGGAGCAGAAGGCCCTGCGGCCCTC	CA2246113647	GUCY2D	c.1805_1830delinsGGGGAGCAGAAGGCCCTGCGGCCCTC (p.Arg602=)
17	g.8012200G>A	CA497953097	GUCY2D	c.1806G>A (p.Arg602=)	dbSNP
17	g.8012200G>C	CA497953098	GUCY2D	c.1806G>C (p.Arg602=)
17	g.8012200G=	CA2246113660	GUCY2D	c.1806G= (p.Arg602=)
17	g.8012200G>T	CA497953099	GUCY2D	c.1806G>T (p.Arg602=)
17	g.8012200_8012224del	CA226056	GUCY2D	c.1806_1830del (p.Ala604ArgfsTer25)	ClinVar dbSNP
17	g.8012201G>A	CA397951361	GUCY2D	c.1807G>A (p.Gly603Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.8012201G>C	CA397951363	GUCY2D	c.1807G>C (p.Gly603Arg)
17	g.8012201G=	CA2246113663	GUCY2D	c.1807G= (p.Gly603=)
17	g.8012201G>T	CA397951364	GUCY2D	c.1807G>T (p.Gly603Ter)
17	g.8012202G>A	CA287530875	GUCY2D	c.1808G>A (p.Gly603Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.8012202G>C	CA8365906	GUCY2D	c.1808G>C (p.Gly603Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012202G=	CA2246113674	GUCY2D	c.1808G= (p.Gly603=)
17	g.8012202G>T	CA397951367	GUCY2D	c.1808G>T (p.Gly603Val)	gnomAD v4
17	g.8012202_8012203delinsGA	CA2246113672	GUCY2D	c.1808_1809delinsGA (p.Gly603=)
17	g.8012203del	CA8365907	GUCY2D	c.1809del (p.Ala604GlnfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012203A>C	CA497953101	GUCY2D	c.1809A>C (p.Gly603=)
17	g.8012203A>G	CA497953102	GUCY2D	c.1809A>G (p.Gly603=)
17	g.8012203A>T	CA497953103	GUCY2D	c.1809A>T (p.Gly603=)
17	g.8012204G>A	CA397951369	GUCY2D	c.1810G>A (p.Ala604Thr)
17	g.8012204G>C	CA397951371	GUCY2D	c.1810G>C (p.Ala604Pro)
17	g.8012204G>T	CA397951373	GUCY2D	c.1810G>T (p.Ala604Ser)
17	g.8012205C>A	CA397951375	GUCY2D	c.1811C>A (p.Ala604Glu)
17	g.8012205C=	CA2246113685	GUCY2D	c.1811C= (p.Ala604=)
17	g.8012205C>G	CA397951377	GUCY2D	c.1811C>G (p.Ala604Gly)
17	g.8012205C>T	CA397951379	GUCY2D	c.1811C>T (p.Ala604Val)	dbSNP gnomAD v2 gnomAD v4
17	g.8012206A>C	CA497953109	GUCY2D	c.1812A>C (p.Ala604=)
17	g.8012206A>G	CA497953107	GUCY2D	c.1812A>G (p.Ala604=)
17	g.8012206A>T	CA497953106	GUCY2D	c.1812A>T (p.Ala604=)
17	g.8012207G>A	CA397951383	GUCY2D	c.1813G>A (p.Glu605Lys)
17	g.8012207G>C	CA397951385	GUCY2D	c.1813G>C (p.Glu605Gln)
17	g.8012207G>T	CA397951381	GUCY2D	c.1813G>T (p.Glu605Ter)
17	g.8012208A>C	CA397951389	GUCY2D	c.1814A>C (p.Glu605Ala)
17	g.8012208A>G	CA397951387	GUCY2D	c.1814A>G (p.Glu605Gly)
17	g.8012208A>T	CA397951391	GUCY2D	c.1814A>T (p.Glu605Val)
17	g.8012209A>C	CA397951393	GUCY2D	c.1815A>C (p.Glu605Asp)
17	g.8012209A>G	CA497953115	GUCY2D	c.1815A>G (p.Glu605=)
17	g.8012209A>T	CA397951395	GUCY2D	c.1815A>T (p.Glu605Asp)
17	g.8012210G>A	CA397951397	GUCY2D	c.1816G>A (p.Gly606Ser)
17	g.8012210G>C	CA8365908	GUCY2D	c.1816G>C (p.Gly606Arg)	dbSNP ExAC gnomAD v2
17	g.8012210G=	CA2246113693	GUCY2D	c.1816G= (p.Gly606=)
17	g.8012210G>T	CA397951399	GUCY2D	c.1816G>T (p.Gly606Cys)
17	g.8012211G>A	CA397951401	GUCY2D	c.1817G>A (p.Gly606Asp)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8012211G>C	CA397951403	GUCY2D	c.1817G>C (p.Gly606Ala)
17	g.8012211G=	CA2246113701	GUCY2D	c.1817G= (p.Gly606=)
17	g.8012211G>T	CA397951405	GUCY2D	c.1817G>T (p.Gly606Val)
17	g.8012212C>A	CA497953121	GUCY2D	c.1818C>A (p.Gly606=)	dbSNP gnomAD v2
17	g.8012212C=	CA2246113711	GUCY2D	c.1818C= (p.Gly606=)
17	g.8012212C>G	CA497953123	GUCY2D	c.1818C>G (p.Gly606=)
17	g.8012212C>T	CA8365909	GUCY2D	c.1818C>T (p.Gly606=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012213C>A	CA397951408	GUCY2D	c.1819C>A (p.Pro607Thr)
17	g.8012213C>G	CA397951409	GUCY2D	c.1819C>G (p.Pro607Ala)
17	g.8012213C>T	CA397951411	GUCY2D	c.1819C>T (p.Pro607Ser)
17	g.8012214C>A	CA397951416	GUCY2D	c.1820C>A (p.Pro607His)
17	g.8012214C>G	CA397951414	GUCY2D	c.1820C>G (p.Pro607Arg)
17	g.8012214C>T	CA397951413	GUCY2D	c.1820C>T (p.Pro607Leu)
17	g.8012215T>A	CA497953127	GUCY2D	c.1821T>A (p.Pro607=)
17	g.8012215T>C	CA497953128	GUCY2D	c.1821T>C (p.Pro607=)
17	g.8012215T>G	CA497953132	GUCY2D	c.1821T>G (p.Pro607=)
17	g.8012215_8012218dup	CA2580094891	GUCY2D	c.1821_1824dup (p.Ala609CysfsTer?)	ClinVar
17	g.8012216G>A	CA8365910	GUCY2D	c.1822G>A (p.Ala608Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012216G>C	CA397951417	GUCY2D	c.1822G>C (p.Ala608Pro)
17	g.8012216G=	CA2246113717	GUCY2D	c.1822G= (p.Ala608=)
17	g.8012216G>T	CA397951420	GUCY2D	c.1822G>T (p.Ala608Ser)
17	g.8012217C>A	CA397951423	GUCY2D	c.1823C>A (p.Ala608Glu)	gnomAD v4
17	g.8012217C=	CA2246113720	GUCY2D	c.1823C= (p.Ala608=)
17	g.8012217C>G	CA397951424	GUCY2D	c.1823C>G (p.Ala608Gly)
17	g.8012217C>T	CA397951426	GUCY2D	c.1823C>T (p.Ala608Val)	dbSNP gnomAD v4
17	g.8012218G>A	CA8365911	GUCY2D	c.1824G>A (p.Ala608=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012218G>C	CA497953140	GUCY2D	c.1824G>C (p.Ala608=)
17	g.8012218G=	CA2246113726	GUCY2D	c.1824G= (p.Ala608=)
17	g.8012218G>T	CA497953138	GUCY2D	c.1824G>T (p.Ala608=)	COSMIC
17	g.8012219G>A	CA287530897	GUCY2D	c.1825G>A (p.Ala609Thr)	ClinVar dbSNP gnomAD v4
17	g.8012219G>C	CA397951428	GUCY2D	c.1825G>C (p.Ala609Pro)
17	g.8012219G=	CA2246113730	GUCY2D	c.1825G= (p.Ala609=)
17	g.8012219G>T	CA397951430	GUCY2D	c.1825G>T (p.Ala609Ser)
17	g.8012220C>A	CA397951432	GUCY2D	c.1826C>A (p.Ala609Asp)
17	g.8012220C>G	CA397951434	GUCY2D	c.1826C>G (p.Ala609Gly)
17	g.8012220C>T	CA397951436	GUCY2D	c.1826C>T (p.Ala609Val)
17	g.8012221C>A	CA497953143	GUCY2D	c.1827C>A (p.Ala609=)
17	g.8012221C=	CA2246113733	GUCY2D	c.1827C= (p.Ala609=)
17	g.8012221C>G	CA497953145	GUCY2D	c.1827C>G (p.Ala609=)
17	g.8012221C>T	CA287530898	GUCY2D	c.1827C>T (p.Ala609=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8012222C>A	CA8365912	GUCY2D	c.1828C>A (p.Leu610Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012222C=	CA2246113736	GUCY2D	c.1828C= (p.Leu610=)
17	g.8012222C>G	CA287530915	GUCY2D	c.1828C>G (p.Leu610Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8012222C>T	CA397951438	GUCY2D	c.1828C>T (p.Leu610Phe)	gnomAD v4
17	g.8012223T>A	CA397951442	GUCY2D	c.1829T>A (p.Leu610His)
17	g.8012223T>C	CA397951445	GUCY2D	c.1829T>C (p.Leu610Pro)
17	g.8012223T>G	CA397951446	GUCY2D	c.1829T>G (p.Leu610Arg)
17	g.8012224C>A	CA497953152	GUCY2D	c.1830C>A (p.Leu610=)
17	g.8012224C>G	CA497953153	GUCY2D	c.1830C>G (p.Leu610=)
17	g.8012224C>T	CA497953154	GUCY2D	c.1830C>T (p.Leu610=)	COSMIC
17	g.8012225T>A	CA397951449	GUCY2D	c.1831T>A (p.Trp611Arg)
17	g.8012225T>C	CA397951451	GUCY2D	c.1831T>C (p.Trp611Arg)
17	g.8012225T>G	CA397951452	GUCY2D	c.1831T>G (p.Trp611Gly)
17	g.8012226G>A	CA397951455	GUCY2D	c.1832G>A (p.Trp611Ter)	dbSNP gnomAD v2
17	g.8012226G>C	CA397951457	GUCY2D	c.1832G>C (p.Trp611Ser)
17	g.8012226G=	CA2246113739	GUCY2D	c.1832G= (p.Trp611=)
17	g.8012226G>T	CA397951458	GUCY2D	c.1832G>T (p.Trp611Leu)
17	g.8012227G>A	CA397951461	GUCY2D	c.1833G>A (p.Trp611Ter)
17	g.8012227G>C	CA397951463	GUCY2D	c.1833G>C (p.Trp611Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012227G=	CA2246113746	GUCY2D	c.1833G= (p.Trp611=)
17	g.8012227G>T	CA397951465	GUCY2D	c.1833G>T (p.Trp611Cys)
17	g.8012228G>A	CA397951471	GUCY2D	c.1834G>A (p.Glu612Lys)	gnomAD v4
17	g.8012228G>C	CA397951468	GUCY2D	c.1834G>C (p.Glu612Gln)
17	g.8012228G>T	CA397951469	GUCY2D	c.1834G>T (p.Glu612Ter)
17	g.8012229A>C	CA397951473	GUCY2D	c.1835A>C (p.Glu612Ala)
17	g.8012229A>G	CA397951475	GUCY2D	c.1835A>G (p.Glu612Gly)	gnomAD v4
17	g.8012229A>T	CA397951477	GUCY2D	c.1835A>T (p.Glu612Val)
17	g.8012230G>A	CA497953173	GUCY2D	c.1836G>A (p.Glu612=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012230G>C	CA397951480	GUCY2D	c.1836G>C (p.Glu612Asp)
17	g.8012230G=	CA2246113754	GUCY2D	c.1836G= (p.Glu612=)
17	g.8012230G>T	CA397951481	GUCY2D	c.1836G>T (p.Glu612Asp)
17	g.8012231G>A	CA397951483	GUCY2D	c.1837G>A (p.Gly613Ser)
17	g.8012231G>C	CA397951485	GUCY2D	c.1837G>C (p.Gly613Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012231G=	CA2246113758	GUCY2D	c.1837G= (p.Gly613=)
17	g.8012231G>T	CA397951486	GUCY2D	c.1837G>T (p.Gly613Cys)
17	g.8012232G>A	CA397951489	GUCY2D	c.1838G>A (p.Gly613Asp)
17	g.8012232G>C	CA397951491	GUCY2D	c.1838G>C (p.Gly613Ala)
17	g.8012232G>T	CA397951493	GUCY2D	c.1838G>T (p.Gly613Val)	ClinVar dbSNP
17	g.8012233C>A	CA497953177	GUCY2D	c.1839C>A (p.Gly613=)
17	g.8012233C>G	CA497953178	GUCY2D	c.1839C>G (p.Gly613=)
17	g.8012233C>T	CA497953180	GUCY2D	c.1839C>T (p.Gly613=)
17	g.8012234A>C	CA397951498	GUCY2D	c.1840A>C (p.Asn614His)
17	g.8012234A>G	CA397951500	GUCY2D	c.1840A>G (p.Asn614Asp)
17	g.8012234A>T	CA397951495	GUCY2D	c.1840A>T (p.Asn614Tyr)
17	g.8012235A=	CA2246113764	GUCY2D	c.1841A= (p.Asn614=)
17	g.8012235A>C	CA397951506	GUCY2D	c.1841A>C (p.Asn614Thr)	ClinVar dbSNP
17	g.8012235A>G	CA397951503	GUCY2D	c.1841A>G (p.Asn614Ser)	ClinVar dbSNP
17	g.8012235A>T	CA397951505	GUCY2D	c.1841A>T (p.Asn614Ile)
17	g.8012236C>A	CA397951508	GUCY2D	c.1842C>A (p.Asn614Lys)	gnomAD v4
17	g.8012236C>G	CA397951510	GUCY2D	c.1842C>G (p.Asn614Lys)
17	g.8012236C>T	CA497953185	GUCY2D	c.1842C>T (p.Asn614=)	ClinVar gnomAD v4
17	g.8012237C>A	CA397951512	GUCY2D	c.1843C>A (p.Leu615Met)	COSMIC
17	g.8012237C=	CA2246113771	GUCY2D	c.1843C= (p.Leu615=)
17	g.8012237C>G	CA287530922	GUCY2D	c.1843C>G (p.Leu615Val)	ClinVar dbSNP
17	g.8012237C>T	CA8365913	GUCY2D	c.1843C>T (p.Leu615=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012238T>A	CA397951517	GUCY2D	c.1844T>A (p.Leu615Gln)
17	g.8012238T>C	CA397951519	GUCY2D	c.1844T>C (p.Leu615Pro)
17	g.8012238T>G	CA397951521	GUCY2D	c.1844T>G (p.Leu615Arg)
17	g.8012239G>A	CA497953193	GUCY2D	c.1845G>A (p.Leu615=)
17	g.8012239G>C	CA497953195	GUCY2D	c.1845G>C (p.Leu615=)
17	g.8012239G>T	CA497953194	GUCY2D	c.1845G>T (p.Leu615=)
17	g.8012240G>A	CA397951523	GUCY2D	c.1846G>A (p.Ala616Thr)
17	g.8012240G>C	CA397951525	GUCY2D	c.1846G>C (p.Ala616Pro)
17	g.8012240G>T	CA397951527	GUCY2D	c.1846G>T (p.Ala616Ser)
17	g.8012241C>A	CA397951529	GUCY2D	c.1847C>A (p.Ala616Asp)
17	g.8012241C=	CA2246113778	GUCY2D	c.1847C= (p.Ala616=)
17	g.8012241C>G	CA397951533	GUCY2D	c.1847C>G (p.Ala616Gly)
17	g.8012241C>T	CA397951531	GUCY2D	c.1847C>T (p.Ala616Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8012242T>A	CA497953198	GUCY2D	c.1848T>A (p.Ala616=)
17	g.8012242T>C	CA8365914	GUCY2D	c.1848T>C (p.Ala616=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012242T>G	CA497953202	GUCY2D	c.1848T>G (p.Ala616=)
17	g.8012242T=	CA2246113782	GUCY2D	c.1848T= (p.Ala616=)
17	g.8012243G>A	CA397951536	GUCY2D	c.1849G>A (p.Val617Met)	gnomAD v4
17	g.8012243G>C	CA397951538	GUCY2D	c.1849G>C (p.Val617Leu)
17	g.8012243G=	CA2246113786	GUCY2D	c.1849G= (p.Val617=)
17	g.8012243G>T	CA8365915	GUCY2D	c.1849G>T (p.Val617Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012244T>A	CA397951541	GUCY2D	c.1850T>A (p.Val617Glu)
17	g.8012244T>C	CA397951543	GUCY2D	c.1850T>C (p.Val617Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.8012244T>G	CA397951545	GUCY2D	c.1850T>G (p.Val617Gly)
17	g.8012244T=	CA2246113795	GUCY2D	c.1850T= (p.Val617=)
17	g.8012245G>A	CA8365916	GUCY2D	c.1851G>A (p.Val617=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012245G>C	CA497953209	GUCY2D	c.1851G>C (p.Val617=)
17	g.8012245G=	CA2246113808	GUCY2D	c.1851G= (p.Val617=)
17	g.8012245G>T	CA497953210	GUCY2D	c.1851G>T (p.Val617=)
17	g.8012246G>A	CA8365917	GUCY2D	c.1852G>A (p.Val618Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012246G>C	CA397951549	GUCY2D	c.1852G>C (p.Val618Leu)
17	g.8012246G=	CA2246113814	GUCY2D	c.1852G= (p.Val618=)
17	g.8012246G>T	CA397951551	GUCY2D	c.1852G>T (p.Val618Phe)
17	g.8012247T>A	CA397951555	GUCY2D	c.1853T>A (p.Val618Asp)
17	g.8012247T>C	CA397951557	GUCY2D	c.1853T>C (p.Val618Ala)
17	g.8012247T>G	CA397951553	GUCY2D	c.1853T>G (p.Val618Gly)
17	g.8012248C>A	CA497953219	GUCY2D	c.1854C>A (p.Val618=)
17	g.8012248C>G	CA497953220	GUCY2D	c.1854C>G (p.Val618=)
17	g.8012248C>T	CA497953221	GUCY2D	c.1854C>T (p.Val618=)	ClinVar dbSNP COSMIC
17	g.8012249T>A	CA397951559	GUCY2D	c.1855T>A (p.Ser619Thr)
17	g.8012249T>C	CA397951561	GUCY2D	c.1855T>C (p.Ser619Pro)
17	g.8012249T>G	CA397951562	GUCY2D	c.1855T>G (p.Ser619Ala)
17	g.8012250C>A	CA397951566	GUCY2D	c.1856C>A (p.Ser619Ter)
17	g.8012250C>G	CA397951568	GUCY2D	c.1856C>G (p.Ser619Ter)
17	g.8012250C>T	CA397951570	GUCY2D	c.1856C>T (p.Ser619Leu)
17	g.8012251A>C	CA497953230	GUCY2D	c.1857A>C (p.Ser619=)
17	g.8012251A>G	CA497953232	GUCY2D	c.1857A>G (p.Ser619=)
17	g.8012251A>T	CA497953234	GUCY2D	c.1857A>T (p.Ser619=)
17	g.8012252G>A	CA397951577	GUCY2D	c.1858G>A (p.Glu620Lys)
17	g.8012252G>C	CA397951573	GUCY2D	c.1858G>C (p.Glu620Gln)
17	g.8012252G>T	CA397951575	GUCY2D	c.1858G>T (p.Glu620Ter)
17	g.8012253A>C	CA397951580	GUCY2D	c.1859A>C (p.Glu620Ala)
17	g.8012253A>G	CA397951582	GUCY2D	c.1859A>G (p.Glu620Gly)
17	g.8012253A>T	CA397951585	GUCY2D	c.1859A>T (p.Glu620Val)
17	g.8012254G>A	CA497953239	GUCY2D	c.1860G>A (p.Glu620=)
17	g.8012254G>C	CA397951591	GUCY2D	c.1860G>C (p.Glu620Asp)
17	g.8012254G>T	CA397951593	GUCY2D	c.1860G>T (p.Glu620Asp)
17	g.8012255C>A	CA287530935	GUCY2D	c.1861C>A (p.His621Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.8012255C=	CA2246113826	GUCY2D	c.1861C= (p.His621=)
17	g.8012255C>G	CA397951598	GUCY2D	c.1861C>G (p.His621Asp)
17	g.8012255C>T	CA8365918	GUCY2D	c.1861C>T (p.His621Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012256A>C	CA397951601	GUCY2D	c.1862A>C (p.His621Pro)
17	g.8012256A>G	CA397951603	GUCY2D	c.1862A>G (p.His621Arg)
17	g.8012256A>T	CA397951604	GUCY2D	c.1862A>T (p.His621Leu)
17	g.8012257C>A	CA397951607	GUCY2D	c.1863C>A (p.His621Gln)
17	g.8012257C>G	CA397951608	GUCY2D	c.1863C>G (p.His621Gln)	gnomAD v4
17	g.8012257C>T	CA497953248	GUCY2D	c.1863C>T (p.His621=)	ClinVar gnomAD v4
17	g.8012258T>A	CA397951610	GUCY2D	c.1864T>A (p.Cys622Ser)
17	g.8012258T>C	CA397951612	GUCY2D	c.1864T>C (p.Cys622Arg)
17	g.8012258T>G	CA397951614	GUCY2D	c.1864T>G (p.Cys622Gly)
17	g.8012259G>A	CA397951616	GUCY2D	c.1865G>A (p.Cys622Tyr)
17	g.8012259G>C	CA397951617	GUCY2D	c.1865G>C (p.Cys622Ser)
17	g.8012259G=	CA2246113830	GUCY2D	c.1865G= (p.Cys622=)
17	g.8012259G>T	CA397951619	GUCY2D	c.1865G>T (p.Cys622Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.8012260C>A	CA397951622	GUCY2D	c.1866C>A (p.Cys622Ter)
17	g.8012260C=	CA2246113832	GUCY2D	c.1866C= (p.Cys622=)
17	g.8012260C>G	CA397951623	GUCY2D	c.1866C>G (p.Cys622Trp)
17	g.8012260C>T	CA497953252	GUCY2D	c.1866C>T (p.Cys622=)	dbSNP
17	g.8012261A>C	CA397951627	GUCY2D	c.1867A>C (p.Thr623Pro)
17	g.8012261A>G	CA397951628	GUCY2D	c.1867A>G (p.Thr623Ala)
17	g.8012261A>T	CA397951626	GUCY2D	c.1867A>T (p.Thr623Ser)
17	g.8012262C>A	CA397951632	GUCY2D	c.1868C>A (p.Thr623Lys)
17	g.8012262C=	CA2246113839	GUCY2D	c.1868C= (p.Thr623=)
17	g.8012262C>G	CA8365920	GUCY2D	c.1868C>G (p.Thr623Arg)	ClinVar dbSNP ExAC gnomAD v2
17	g.8012262C>T	CA8365919	GUCY2D	c.1868C>T (p.Thr623Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012263G>A	CA8365921	GUCY2D	c.1869G>A (p.Thr623=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012263G>C	CA497953261	GUCY2D	c.1869G>C (p.Thr623=)
17	g.8012263G=	CA2246113844	GUCY2D	c.1869G= (p.Thr623=)
17	g.8012263G>T	CA497953260	GUCY2D	c.1869G>T (p.Thr623=)
17	g.8012264C>A	CA497953266	GUCY2D	c.1870C>A (p.Arg624=)
17	g.8012264C=	CA2246113848	GUCY2D	c.1870C= (p.Arg624=)
17	g.8012264C>G	CA397951635	GUCY2D	c.1870C>G (p.Arg624Gly)
17	g.8012264C>T	CA8365922	GUCY2D	c.1870C>T (p.Arg624Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012265G>A	CA8365923	GUCY2D	c.1871G>A (p.Arg624Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012265G>C	CA397951638	GUCY2D	c.1871G>C (p.Arg624Pro)
17	g.8012265G=	CA2246113855	GUCY2D	c.1871G= (p.Arg624=)
17	g.8012265G>T	CA397951640	GUCY2D	c.1871G>T (p.Arg624Leu)	gnomAD v4
17	g.8012266G>A	CA497953274	GUCY2D	c.1872G>A (p.Arg624=)	dbSNP COSMIC
17	g.8012266G>C	CA497953278	GUCY2D	c.1872G>C (p.Arg624=)
17	g.8012266G=	CA2246113861	GUCY2D	c.1872G= (p.Arg624=)
17	g.8012266G>T	CA8365924	GUCY2D	c.1872G>T (p.Arg624=)	dbSNP ExAC gnomAD v2
17	g.8012267G>A	CA397951644	GUCY2D	c.1873G>A (p.Gly625Ser)	COSMIC
17	g.8012267G>C	CA397951645	GUCY2D	c.1873G>C (p.Gly625Arg)
17	g.8012267G>T	CA397951647	GUCY2D	c.1873G>T (p.Gly625Cys)
17	g.8012268G>A	CA8365925	GUCY2D	c.1874G>A (p.Gly625Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012268G>C	CA8365926	GUCY2D	c.1874G>C (p.Gly625Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012268G=	CA2246113870	GUCY2D	c.1874G= (p.Gly625=)
17	g.8012268G>T	CA397951650	GUCY2D	c.1874G>T (p.Gly625Val)
17	g.8012269C>A	CA497953284	GUCY2D	c.1875C>A (p.Gly625=)
17	g.8012269C=	CA2246113877	GUCY2D	c.1875C= (p.Gly625=)
17	g.8012269C>G	CA8365927	GUCY2D	c.1875C>G (p.Gly625=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012269C>T	CA497953287	GUCY2D	c.1875C>T (p.Gly625=)	gnomAD v4
17	g.8012270T>A	CA397951654	GUCY2D	c.1876T>A (p.Ser626Thr)
17	g.8012270T>C	CA397951656	GUCY2D	c.1876T>C (p.Ser626Pro)
17	g.8012270T>G	CA397951658	GUCY2D	c.1876T>G (p.Ser626Ala)
17	g.8012271C>A	CA397951660	GUCY2D	c.1877C>A (p.Ser626Tyr)
17	g.8012271C=	CA2246113891	GUCY2D	c.1877C= (p.Ser626=)
17	g.8012271C>G	CA397951662	GUCY2D	c.1877C>G (p.Ser626Cys)	ClinVar dbSNP gnomAD v4
17	g.8012271C>T	CA397951664	GUCY2D	c.1877C>T (p.Ser626Phe)	gnomAD v4

Number of alleles fetched