Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
17	g.8012272T>A	CA497953288	GUCY2D	c.1878T>A (p.Ser626=)
17	g.8012272T>C	CA497953289	GUCY2D	c.1878T>C (p.Ser626=)
17	g.8012272T>G	CA497953290	GUCY2D	c.1878T>G (p.Ser626=)
17	g.8012273C>A	CA397951666	GUCY2D	c.1879C>A (p.Leu627Ile)
17	g.8012273C>G	CA397951668	GUCY2D	c.1879C>G (p.Leu627Val)
17	g.8012273C>T	CA397951669	GUCY2D	c.1879C>T (p.Leu627Phe)
17	g.8012274T>A	CA397951671	GUCY2D	c.1880T>A (p.Leu627His)
17	g.8012274T>C	CA397951673	GUCY2D	c.1880T>C (p.Leu627Pro)
17	g.8012274T>G	CA397951674	GUCY2D	c.1880T>G (p.Leu627Arg)
17	g.8012275T>A	CA497953294	GUCY2D	c.1881T>A (p.Leu627=)
17	g.8012275T>C	CA497953296	GUCY2D	c.1881T>C (p.Leu627=)
17	g.8012275T>G	CA497953298	GUCY2D	c.1881T>G (p.Leu627=)
17	g.8012276C>A	CA397951677	GUCY2D	c.1882C>A (p.Gln628Lys)
17	g.8012276C=	CA2246113904	GUCY2D	c.1882C= (p.Gln628=)
17	g.8012276C>G	CA397951676	GUCY2D	c.1882C>G (p.Gln628Glu)	dbSNP
17	g.8012276C>T	CA397951675	GUCY2D	c.1882C>T (p.Gln628Ter)
17	g.8012277A>C	CA397951680	GUCY2D	c.1883A>C (p.Gln628Pro)
17	g.8012277A>G	CA397951678	GUCY2D	c.1883A>G (p.Gln628Arg)	COSMIC
17	g.8012277A>T	CA397951679	GUCY2D	c.1883A>T (p.Gln628Leu)
17	g.8012278G>A	CA497953305	GUCY2D	c.1884G>A (p.Gln628=)
17	g.8012278G>C	CA397951681	GUCY2D	c.1884G>C (p.Gln628His)
17	g.8012278G>T	CA397951682	GUCY2D	c.1884G>T (p.Gln628His)
17	g.8012279G>A	CA397951683	GUCY2D	c.1885G>A (p.Asp629Asn)
17	g.8012279G>C	CA397951684	GUCY2D	c.1885G>C (p.Asp629His)
17	g.8012279G>T	CA397951685	GUCY2D	c.1885G>T (p.Asp629Tyr)
17	g.8012280A>C	CA397951686	GUCY2D	c.1886A>C (p.Asp629Ala)
17	g.8012280A>G	CA397951687	GUCY2D	c.1886A>G (p.Asp629Gly)
17	g.8012280A>T	CA397951688	GUCY2D	c.1886A>T (p.Asp629Val)
17	g.8012281C>A	CA8365928	GUCY2D	c.1887C>A (p.Asp629Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012281C=	CA2246113906	GUCY2D	c.1887C= (p.Asp629=)
17	g.8012281C>G	CA397951689	GUCY2D	c.1887C>G (p.Asp629Glu)
17	g.8012281C>T	CA497953310	GUCY2D	c.1887C>T (p.Asp629=)
17	g.8012282C>A	CA397951691	GUCY2D	c.1888C>A (p.Leu630Ile)	COSMIC
17	g.8012282C>G	CA397951692	GUCY2D	c.1888C>G (p.Leu630Val)	gnomAD v4
17	g.8012282C>T	CA397951690	GUCY2D	c.1888C>T (p.Leu630Phe)
17	g.8012283T>A	CA397951693	GUCY2D	c.1889T>A (p.Leu630His)
17	g.8012283T>C	CA397951694	GUCY2D	c.1889T>C (p.Leu630Pro)
17	g.8012283T>G	CA397951695	GUCY2D	c.1889T>G (p.Leu630Arg)
17	g.8012284C>A	CA497953316	GUCY2D	c.1890C>A (p.Leu630=)
17	g.8012284C=	CA2246113913	GUCY2D	c.1890C= (p.Leu630=)
17	g.8012284C>G	CA497953319	GUCY2D	c.1890C>G (p.Leu630=)
17	g.8012284C>T	CA8365929	GUCY2D	c.1890C>T (p.Leu630=)	dbSNP ExAC
17	g.8012285C>A	CA397951698	GUCY2D	c.1891C>A (p.Leu631Ile)
17	g.8012285C=	CA2246113919	GUCY2D	c.1891C= (p.Leu631=)
17	g.8012285C>G	CA397951697	GUCY2D	c.1891C>G (p.Leu631Val)	dbSNP gnomAD v3 gnomAD v4
17	g.8012285C>T	CA397951696	GUCY2D	c.1891C>T (p.Leu631Phe)	dbSNP gnomAD v3 gnomAD v4
17	g.8012286T>A	CA397951699	GUCY2D	c.1892T>A (p.Leu631His)
17	g.8012286T>C	CA397951700	GUCY2D	c.1892T>C (p.Leu631Pro)
17	g.8012286T>G	CA397951701	GUCY2D	c.1892T>G (p.Leu631Arg)
17	g.8012287C>A	CA497953329	GUCY2D	c.1893C>A (p.Leu631=)	ClinVar dbSNP gnomAD v4
17	g.8012287C=	CA2246113929	GUCY2D	c.1893C= (p.Leu631=)
17	g.8012287C>G	CA497953323	GUCY2D	c.1893C>G (p.Leu631=)
17	g.8012287C>T	CA8365930	GUCY2D	c.1893C>T (p.Leu631=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012288G>A	CA8365931	GUCY2D	c.1894G>A (p.Ala632Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012288G>C	CA287531000	GUCY2D	c.1894G>C (p.Ala632Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.8012288G=	CA2246113938	GUCY2D	c.1894G= (p.Ala632=)
17	g.8012288G>T	CA397951702	GUCY2D	c.1894G>T (p.Ala632Ser)	gnomAD v4
17	g.8012289C>A	CA397951703	GUCY2D	c.1895C>A (p.Ala632Asp)
17	g.8012289C=	CA2246113943	GUCY2D	c.1895C= (p.Ala632=)
17	g.8012289C>G	CA397951704	GUCY2D	c.1895C>G (p.Ala632Gly)	gnomAD v4
17	g.8012289C>T	CA8365932	GUCY2D	c.1895C>T (p.Ala632Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012290T>A	CA497953333	GUCY2D	c.1896T>A (p.Ala632=)
17	g.8012290T>C	CA497953334	GUCY2D	c.1896T>C (p.Ala632=)
17	g.8012290T>G	CA497953335	GUCY2D	c.1896T>G (p.Ala632=)
17	g.8012291C>A	CA397951705	GUCY2D	c.1897C>A (p.Gln633Lys)
17	g.8012291C>G	CA397951706	GUCY2D	c.1897C>G (p.Gln633Glu)
17	g.8012291C>T	CA397951707	GUCY2D	c.1897C>T (p.Gln633Ter)	COSMIC
17	g.8012292A>C	CA397951708	GUCY2D	c.1898A>C (p.Gln633Pro)
17	g.8012292A>G	CA397951709	GUCY2D	c.1898A>G (p.Gln633Arg)
17	g.8012292A>T	CA397951710	GUCY2D	c.1898A>T (p.Gln633Leu)
17	g.8012293G>A	CA497953341	GUCY2D	c.1899G>A (p.Gln633=)	gnomAD v4
17	g.8012293G>C	CA397951711	GUCY2D	c.1899G>C (p.Gln633His)
17	g.8012293G=	CA2246113952	GUCY2D	c.1899G= (p.Gln633=)
17	g.8012293G>T	CA397951712	GUCY2D	c.1899G>T (p.Gln633His)	dbSNP gnomAD v3 gnomAD v4
17	g.8012294A>C	CA497953343	GUCY2D	c.1900A>C (p.Arg634=)
17	g.8012294A>G	CA397951714	GUCY2D	c.1900A>G (p.Arg634Gly)
17	g.8012294A>T	CA397951716	GUCY2D	c.1900A>T (p.Arg634Ter)
17	g.8012295G>A	CA397951718	GUCY2D	c.1901G>A (p.Arg634Lys)
17	g.8012295G>C	CA8365933	GUCY2D	c.1901G>C (p.Arg634Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012295G=	CA2246113959	GUCY2D	c.1901G= (p.Arg634=)
17	g.8012295G>T	CA397951721	GUCY2D	c.1901G>T (p.Arg634Ile)
17	g.8012296A=	CA2246113963	GUCY2D	c.1902A= (p.Arg634=)
17	g.8012296A>C	CA397951723	GUCY2D	c.1902A>C (p.Arg634Ser)
17	g.8012296A>G	CA497953349	GUCY2D	c.1902A>G (p.Arg634=)	dbSNP gnomAD v3 gnomAD v4
17	g.8012296A>T	CA397951725	GUCY2D	c.1902A>T (p.Arg634Ser)
17	g.8012297G>A	CA397951728	GUCY2D	c.1903G>A (p.Glu635Lys)	COSMIC
17	g.8012297G>C	CA397951732	GUCY2D	c.1903G>C (p.Glu635Gln)
17	g.8012297G>T	CA397951730	GUCY2D	c.1903G>T (p.Glu635Ter)
17	g.8012298A=	CA2246113966	GUCY2D	c.1904A= (p.Glu635=)
17	g.8012298A>C	CA397951733	GUCY2D	c.1904A>C (p.Glu635Ala)
17	g.8012298A>G	CA397951734	GUCY2D	c.1904A>G (p.Glu635Gly)	ClinVar dbSNP
17	g.8012298A>T	CA397951736	GUCY2D	c.1904A>T (p.Glu635Val)
17	g.8012299A>C	CA397951738	GUCY2D	c.1905A>C (p.Glu635Asp)
17	g.8012299A>G	CA497953356	GUCY2D	c.1905A>G (p.Glu635=)	gnomAD v4
17	g.8012299A>T	CA397951740	GUCY2D	c.1905A>T (p.Glu635Asp)
17	g.8012300A>C	CA397951742	GUCY2D	c.1906A>C (p.Ile636Leu)
17	g.8012300A>G	CA397951744	GUCY2D	c.1906A>G (p.Ile636Val)
17	g.8012300A>T	CA397951746	GUCY2D	c.1906A>T (p.Ile636Leu)
17	g.8012301T>A	CA397951749	GUCY2D	c.1907T>A (p.Ile636Lys)
17	g.8012301T>C	CA397951750	GUCY2D	c.1907T>C (p.Ile636Thr)
17	g.8012301T>G	CA397951752	GUCY2D	c.1907T>G (p.Ile636Arg)	gnomAD v4
17	g.8012302A>C	CA497953362	GUCY2D	c.1908A>C (p.Ile636=)
17	g.8012302A>G	CA397951755	GUCY2D	c.1908A>G (p.Ile636Met)
17	g.8012302A>T	CA497953363	GUCY2D	c.1908A>T (p.Ile636=)
17	g.8012303A>C	CA397951756	GUCY2D	c.1909A>C (p.Lys637Gln)
17	g.8012303A>G	CA397951762	GUCY2D	c.1909A>G (p.Lys637Glu)
17	g.8012303A>T	CA397951760	GUCY2D	c.1909A>T (p.Lys637Ter)
17	g.8012304A>C	CA397951765	GUCY2D	c.1910A>C (p.Lys637Thr)
17	g.8012304A>G	CA397951766	GUCY2D	c.1910A>G (p.Lys637Arg)
17	g.8012304A>T	CA397951769	GUCY2D	c.1910A>T (p.Lys637Met)
17	g.8012305G>A	CA497953370	GUCY2D	c.1911G>A (p.Lys637=)
17	g.8012305G>C	CA397951771	GUCY2D	c.1911G>C (p.Lys637Asn)
17	g.8012305G>T	CA397951773	GUCY2D	c.1911G>T (p.Lys637Asn)
17	g.8012306C>A	CA397951775	GUCY2D	c.1912C>A (p.Leu638Met)
17	g.8012306C=	CA2246113968	GUCY2D	c.1912C= (p.Leu638=)
17	g.8012306C>G	CA397951777	GUCY2D	c.1912C>G (p.Leu638Val)
17	g.8012306C>T	CA497953375	GUCY2D	c.1912C>T (p.Leu638=)	dbSNP gnomAD v2 gnomAD v4
17	g.8012307T>A	CA397951779	GUCY2D	c.1913T>A (p.Leu638Gln)
17	g.8012307T>C	CA397951781	GUCY2D	c.1913T>C (p.Leu638Pro)
17	g.8012307T>G	CA397951782	GUCY2D	c.1913T>G (p.Leu638Arg)
17	g.8012308G>A	CA497953383	GUCY2D	c.1914G>A (p.Leu638=)
17	g.8012308G>C	CA497953385	GUCY2D	c.1914G>C (p.Leu638=)
17	g.8012308G>T	CA497953388	GUCY2D	c.1914G>T (p.Leu638=)
17	g.8012309G>A	CA287531016	GUCY2D	c.1915G>A (p.Asp639Asn)	dbSNP
17	g.8012309G>C	CA397951786	GUCY2D	c.1915G>C (p.Asp639His)
17	g.8012309G=	CA2246113971	GUCY2D	c.1915G= (p.Asp639=)
17	g.8012309G>T	CA8365934	GUCY2D	c.1915G>T (p.Asp639Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012310A>C	CA397951791	GUCY2D	c.1916A>C (p.Asp639Ala)
17	g.8012310A>G	CA397951788	GUCY2D	c.1916A>G (p.Asp639Gly)
17	g.8012310A>T	CA397951790	GUCY2D	c.1916A>T (p.Asp639Val)
17	g.8012311C>A	CA397951794	GUCY2D	c.1917C>A (p.Asp639Glu)
17	g.8012311C>G	CA397951796	GUCY2D	c.1917C>G (p.Asp639Glu)
17	g.8012311C>T	CA497953393	GUCY2D	c.1917C>T (p.Asp639=)
17	g.8012312T>A	CA397951797	GUCY2D	c.1918T>A (p.Trp640Arg)	gnomAD v4
17	g.8012312T>C	CA397951799	GUCY2D	c.1918T>C (p.Trp640Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.8012312T>G	CA397951801	GUCY2D	c.1918T>G (p.Trp640Gly)
17	g.8012312T=	CA2246113976	GUCY2D	c.1918T= (p.Trp640=)
17	g.8012313G>A	CA397951802	GUCY2D	c.1919G>A (p.Trp640Ter)
17	g.8012313G>C	CA397951804	GUCY2D	c.1919G>C (p.Trp640Ser)	COSMIC
17	g.8012313G>T	CA397951806	GUCY2D	c.1919G>T (p.Trp640Leu)
17	g.8012314G>A	CA397951807	GUCY2D	c.1920G>A (p.Trp640Ter)	COSMIC
17	g.8012314G>C	CA397951809	GUCY2D	c.1920G>C (p.Trp640Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012314G=	CA2246113982	GUCY2D	c.1920G= (p.Trp640=)
17	g.8012314G>T	CA397951811	GUCY2D	c.1920G>T (p.Trp640Cys)
17	g.8012315A>C	CA397951817	GUCY2D	c.1921A>C (p.Met641Leu)
17	g.8012315A>G	CA397951815	GUCY2D	c.1921A>G (p.Met641Val)
17	g.8012315A>T	CA397951813	GUCY2D	c.1921A>T (p.Met641Leu)
17	g.8012316T>A	CA397951819	GUCY2D	c.1922T>A (p.Met641Lys)
17	g.8012316T>C	CA397951823	GUCY2D	c.1922T>C (p.Met641Thr)
17	g.8012316T>G	CA397951821	GUCY2D	c.1922T>G (p.Met641Arg)
17	g.8012317G>A	CA397951825	GUCY2D	c.1923G>A (p.Met641Ile)	dbSNP gnomAD v3 gnomAD v4
17	g.8012317G>C	CA397951827	GUCY2D	c.1923G>C (p.Met641Ile)
17	g.8012317G=	CA2246113986	GUCY2D	c.1923G= (p.Met641=)
17	g.8012317G>T	CA397951826	GUCY2D	c.1923G>T (p.Met641Ile)
17	g.8012318T>A	CA397951829	GUCY2D	c.1924T>A (p.Phe642Ile)
17	g.8012318T>C	CA397951833	GUCY2D	c.1924T>C (p.Phe642Leu)
17	g.8012318T>G	CA397951831	GUCY2D	c.1924T>G (p.Phe642Val)	ClinVar dbSNP
17	g.8012318T=	CA2246113995	GUCY2D	c.1924T= (p.Phe642=)
17	g.8012319T>A	CA397951835	GUCY2D	c.1925T>A (p.Phe642Tyr)
17	g.8012319T>C	CA397951839	GUCY2D	c.1925T>C (p.Phe642Ser)
17	g.8012319T>G	CA397951837	GUCY2D	c.1925T>G (p.Phe642Cys)
17	g.8012320C>A	CA397951841	GUCY2D	c.1926C>A (p.Phe642Leu)
17	g.8012320C=	CA2246114000	GUCY2D	c.1926C= (p.Phe642=)
17	g.8012320C>G	CA397951842	GUCY2D	c.1926C>G (p.Phe642Leu)	dbSNP
17	g.8012320C>T	CA497953412	GUCY2D	c.1926C>T (p.Phe642=)	gnomAD v4
17	g.8012320dup	CA2576160305	GUCY2D	c.1926dup (p.Lys643GlnfsTer?)
17	g.8012321A>C	CA397951845	GUCY2D	c.1927A>C (p.Lys643Gln)	gnomAD v4
17	g.8012321A>G	CA397951846	GUCY2D	c.1927A>G (p.Lys643Glu)
17	g.8012321A>T	CA397951848	GUCY2D	c.1927A>T (p.Lys643Ter)
17	g.8012322A>C	CA397951850	GUCY2D	c.1928A>C (p.Lys643Thr)
17	g.8012322A>G	CA397951852	GUCY2D	c.1928A>G (p.Lys643Arg)
17	g.8012322A>T	CA397951854	GUCY2D	c.1928A>T (p.Lys643Met)
17	g.8012323G>A	CA497953413	GUCY2D	c.1929G>A (p.Lys643=)	gnomAD v4
17	g.8012323G>C	CA397951856	GUCY2D	c.1929G>C (p.Lys643Asn)
17	g.8012323G>T	CA397951858	GUCY2D	c.1929G>T (p.Lys643Asn)
17	g.8012324T>A	CA397951861	GUCY2D	c.1930T>A (p.Ser644Thr)
17	g.8012324T>C	CA397951862	GUCY2D	c.1930T>C (p.Ser644Pro)
17	g.8012324T>G	CA397951864	GUCY2D	c.1930T>G (p.Ser644Ala)
17	g.8012325C>A	CA397951870	GUCY2D	c.1931C>A (p.Ser644Tyr)	gnomAD v4
17	g.8012325C>G	CA397951868	GUCY2D	c.1931C>G (p.Ser644Cys)
17	g.8012325C>T	CA397951867	GUCY2D	c.1931C>T (p.Ser644Phe)
17	g.8012326C>A	CA497953423	GUCY2D	c.1932C>A (p.Ser644=)
17	g.8012326C=	CA2246114004	GUCY2D	c.1932C= (p.Ser644=)
17	g.8012326C>G	CA497953424	GUCY2D	c.1932C>G (p.Ser644=)
17	g.8012326C>T	CA497953425	GUCY2D	c.1932C>T (p.Ser644=)	dbSNP gnomAD v3 gnomAD v4
17	g.8012327T>A	CA397951872	GUCY2D	c.1933T>A (p.Ser645Thr)
17	g.8012327T>C	CA397951874	GUCY2D	c.1933T>C (p.Ser645Pro)	gnomAD v4
17	g.8012327T>G	CA397951876	GUCY2D	c.1933T>G (p.Ser645Ala)
17	g.8012328C>A	CA397951878	GUCY2D	c.1934C>A (p.Ser645Tyr)	gnomAD v4
17	g.8012328C>G	CA397951880	GUCY2D	c.1934C>G (p.Ser645Cys)	dbSNP gnomAD v3
17	g.8012328C>T	CA397951881	GUCY2D	c.1934C>T (p.Ser645Phe)	gnomAD v4
17	g.8012329C>A	CA497953427	GUCY2D	c.1935C>A (p.Ser645=)
17	g.8012329C=	CA2246114009	GUCY2D	c.1935C= (p.Ser645=)
17	g.8012329C>G	CA497953428	GUCY2D	c.1935C>G (p.Ser645=)
17	g.8012329C>T	CA497953430	GUCY2D	c.1935C>T (p.Ser645=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8012330C>A	CA397951883	GUCY2D	c.1936C>A (p.Leu646Ile)
17	g.8012330C>G	CA397951885	GUCY2D	c.1936C>G (p.Leu646Val)
17	g.8012330C>T	CA397951887	GUCY2D	c.1936C>T (p.Leu646Phe)
17	g.8012330_8012331insAG	CA2808392979	GUCY2D	c.1936_1937insAG (p.Leu646GlnfsTer10)
17	g.8012331T>A	CA397951889	GUCY2D	c.1937T>A (p.Leu646His)
17	g.8012331T>C	CA397951891	GUCY2D	c.1937T>C (p.Leu646Pro)	ClinVar dbSNP
17	g.8012331T>G	CA397951892	GUCY2D	c.1937T>G (p.Leu646Arg)
17	g.8012331T=	CA2246114017	GUCY2D	c.1937T= (p.Leu646=)
17	g.8012332C>A	CA497953432	GUCY2D	c.1938C>A (p.Leu646=)
17	g.8012332C=	CA2246114024	GUCY2D	c.1938C= (p.Leu646=)
17	g.8012332C>G	CA497953433	GUCY2D	c.1938C>G (p.Leu646=)
17	g.8012332C>T	CA8365935	GUCY2D	c.1938C>T (p.Leu646=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8012332_8012333insAGT	CA2808392980	GUCY2D	c.1938_1939insAGT (p.Leu646_Leu647insSer)
17	g.8012333C>A	CA397951897	GUCY2D	c.1939C>A (p.Leu647Met)
17	g.8012333C>G	CA397951895	GUCY2D	c.1939C>G (p.Leu647Val)
17	g.8012333C>T	CA497953438	GUCY2D	c.1939C>T (p.Leu647=)
17	g.8012334T>A	CA397951898	GUCY2D	c.1940T>A (p.Leu647Gln)
17	g.8012334T>C	CA397951900	GUCY2D	c.1940T>C (p.Leu647Pro)
17	g.8012334T>G	CA397951902	GUCY2D	c.1940T>G (p.Leu647Arg)
17	g.8012334_8012335insA	CA2808392981	GUCY2D	c.1940_1941insA (p.Leu648AlafsTer?)
17	g.8012335G>A	CA497953441	GUCY2D	c.1941G>A (p.Leu647=)
17	g.8012335G>C	CA497953444	GUCY2D	c.1941G>C (p.Leu647=)
17	g.8012335G>T	CA497953442	GUCY2D	c.1941G>T (p.Leu647=)	gnomAD v4
17	g.8012335_8012339del	CA2808392982	GUCY2D	c.1941_1945del (p.Leu648ProfsTer?)
17	g.8012336C>A	CA397951904	GUCY2D	c.1942C>A (p.Leu648Met)
17	g.8012336C>G	CA397951906	GUCY2D	c.1942C>G (p.Leu648Val)
17	g.8012336C>T	CA497953447	GUCY2D	c.1942C>T (p.Leu648=)
17	g.8012336_8012337del	CA2808392983	GUCY2D	c.1942_1943del (p.Leu648GlyfsTer?)
17	g.8012337T>A	CA397951908	GUCY2D	c.1943T>A (p.Leu648Gln)
17	g.8012337T>C	CA397951910	GUCY2D	c.1943T>C (p.Leu648Pro)	ClinVar dbSNP gnomAD v4
17	g.8012337T>G	CA397951912	GUCY2D	c.1943T>G (p.Leu648Arg)
17	g.8012337T=	CA2246114032	GUCY2D	c.1943T= (p.Leu648=)
17	g.8012338G>A	CA497953451	GUCY2D	c.1944G>A (p.Leu648=)
17	g.8012338G>C	CA497953452	GUCY2D	c.1944G>C (p.Leu648=)
17	g.8012338G>T	CA497953453	GUCY2D	c.1944G>T (p.Leu648=)
17	g.8012339G>A	CA8365936	GUCY2D	c.1945G>A (p.Asp649Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012339G>C	CA397951915	GUCY2D	c.1945G>C (p.Asp649His)
17	g.8012339G=	CA2246114036	GUCY2D	c.1945G= (p.Asp649=)
17	g.8012339G>T	CA397951917	GUCY2D	c.1945G>T (p.Asp649Tyr)
17	g.8012340A>C	CA397951923	GUCY2D	c.1946A>C (p.Asp649Ala)
17	g.8012340A>G	CA397951919	GUCY2D	c.1946A>G (p.Asp649Gly)
17	g.8012340A>T	CA397951921	GUCY2D	c.1946A>T (p.Asp649Val)
17	g.8012341C>A	CA397951924	GUCY2D	c.1947C>A (p.Asp649Glu)
17	g.8012341C=	CA2246114039	GUCY2D	c.1947C= (p.Asp649=)
17	g.8012341C>G	CA397951926	GUCY2D	c.1947C>G (p.Asp649Glu)
17	g.8012341C>T	CA497953457	GUCY2D	c.1947C>T (p.Asp649=)	ClinVar dbSNP
17	g.8012342_8012347del	CA2808392984	GUCY2D	c.1948_1953del (p.Leu650_Ile651del)
17	g.8012341_8012342insA	CA2808392986	GUCY2D	c.1947_1948insA (p.Leu650ThrfsTer?)
17	g.8012341_8012342insAGAG	CA2808392985	GUCY2D	c.1947_1948insAGAG (p.Leu650ArgfsTer?)
17	g.8012342C>A	CA397951928	GUCY2D	c.1948C>A (p.Leu650Ile)
17	g.8012342C>G	CA397951929	GUCY2D	c.1948C>G (p.Leu650Val)
17	g.8012342C>T	CA397951930	GUCY2D	c.1948C>T (p.Leu650Phe)
17	g.8012342_8012343insA	CA2808392987	GUCY2D	c.1948_1949insA (p.Leu650HisfsTer?)
17	g.8012343T>A	CA397951934	GUCY2D	c.1949T>A (p.Leu650His)
17	g.8012343T>C	CA397951936	GUCY2D	c.1949T>C (p.Leu650Pro)
17	g.8012343T>G	CA397951937	GUCY2D	c.1949T>G (p.Leu650Arg)
17	g.8012343_8012344insAGA	CA2808392989	GUCY2D	c.1949_1950insAGA (p.Leu650_Ile651insAsp)
17	g.8012344T>A	CA497953461	GUCY2D	c.1950T>A (p.Leu650=)
17	g.8012344T>C	CA497953463	GUCY2D	c.1950T>C (p.Leu650=)
17	g.8012344T>G	CA497953465	GUCY2D	c.1950T>G (p.Leu650=)	COSMIC
17	g.8012345A=	CA2246114043	GUCY2D	c.1951A= (p.Ile651=)
17	g.8012345A>C	CA397951941	GUCY2D	c.1951A>C (p.Ile651Leu)
17	g.8012345A>G	CA397951943	GUCY2D	c.1951A>G (p.Ile651Val)	dbSNP gnomAD v2 gnomAD v4
17	g.8012345A>T	CA397951944	GUCY2D	c.1951A>T (p.Ile651Phe)
17	g.8012346T>A	CA397951950	GUCY2D	c.1952T>A (p.Ile651Asn)
17	g.8012346T>C	CA397951948	GUCY2D	c.1952T>C (p.Ile651Thr)
17	g.8012346T>G	CA397951947	GUCY2D	c.1952T>G (p.Ile651Ser)
17	g.8012346_8012347del	CA2808392990	GUCY2D	c.1952_1953del (p.Ile651LysfsTer?)
17	g.8012347C>A	CA497953467	GUCY2D	c.1953C>A (p.Ile651=)
17	g.8012347C>G	CA397951953	GUCY2D	c.1953C>G (p.Ile651Met)
17	g.8012347C>T	CA497953468	GUCY2D	c.1953C>T (p.Ile651=)	ClinVar
17	g.8012347_8012348del	CA2808392991	GUCY2D	c.1953_1954del (p.Lys652GlyfsTer?)
17	g.8012348A>C	CA397951959	GUCY2D	c.1954A>C (p.Lys652Gln)	gnomAD v4
17	g.8012348A>G	CA397951955	GUCY2D	c.1954A>G (p.Lys652Glu)	gnomAD v4
17	g.8012348A>T	CA397951957	GUCY2D	c.1954A>T (p.Lys652Ter)
17	g.8012348_8012349insGT	CA2808392992	GUCY2D	c.1954_1955insGT (p.Lys652SerfsTer4)
17	g.8012349A>C	CA397951961	GUCY2D	c.1955A>C (p.Lys652Thr)
17	g.8012349A>G	CA397951963	GUCY2D	c.1955A>G (p.Lys652Arg)	gnomAD v3 gnomAD v4
17	g.8012349A>T	CA397951965	GUCY2D	c.1955A>T (p.Lys652Met)
17	g.8012350G>A	CA497953476	GUCY2D	c.1956G>A (p.Lys652=)	dbSNP
17	g.8012350G>C	CA397951967	GUCY2D	c.1956G>C (p.Lys652Asn)
17	g.8012350G=	CA2246114047	GUCY2D	c.1956G= (p.Lys652=)
17	g.8012350G>T	CA397951969	GUCY2D	c.1956G>T (p.Lys652Asn)
17	g.8012350_8012351insACA	CA2808392993	GUCY2D	c.1956_1956+1insACA (n.1956_1956+1insACA)
17	g.8012351G>A	CA8365937	GUCY2D	c.1956+1G>A (n.1956+1G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.8012351G>C	CA397951973	GUCY2D	c.1956+1G>C (n.1956+1G>C)
17	g.8012351G=	CA2246114053	GUCY2D	c.1956+1G= (n.1956+1G=)
17	g.8012351G>T	CA397951975	GUCY2D	c.1956+1G>T (n.1956+1G>T)
17	g.8012351_8012352insACA	CA2808392994	GUCY2D	c.1956+1_1956+2insACA (n.1956+1_1956+2insACA)
17	g.8012352T>A	CA226057	GUCY2D	c.1956+2T>A (n.1956+2T>A)	ClinVar dbSNP
17	g.8012352T>C	CA397951976	GUCY2D	c.1956+2T>C (n.1956+2T>C)	dbSNP gnomAD v3 gnomAD v4
17	g.8012352T>G	CA397951978	GUCY2D	c.1956+2T>G (n.1956+2T>G)
17	g.8012352T=	CA2246114061	GUCY2D	c.1956+2T= (n.1956+2T=)
17	g.8012353G>A	CA2741516580	GUCY2D	c.1956+3G>A (n.1956+3G>A)
17	g.8012353G>C	CA2576160306	GUCY2D	c.1956+3G>C (n.1956+3G>C)	gnomAD v4
17	g.8012354T>G	CA981230476	GUCY2D	c.1956+4T>G (n.1956+4T>G)	gnomAD v3 gnomAD v4
17	g.8012354_8012355insA	CA2808392995	GUCY2D	c.1956+4_1956+5insA (n.1956+4_1956+5insA)
17	g.8012355G>A	CA2635949806	GUCY2D	c.1956+5G>A (n.1956+5G>A)	gnomAD v4
17	g.8012355G=	CA2246114064	GUCY2D	c.1956+5G= (n.1956+5G=)
17	g.8012358_8012375del	CA2808392996	GUCY2D	c.1956+8_1956+25del (n.1956+8_1956+25del)
17	g.8012356T>C	CA2246114068	GUCY2D	c.1956+6T>C (n.1956+6T>C)	dbSNP
17	g.8012356T=	CA2246114066	GUCY2D	c.1956+6T= (n.1956+6T=)
17	g.8012356dup	CA981230481	GUCY2D	c.1956+6dup (n.1956+6dup)	dbSNP gnomAD v3 gnomAD v4
17	g.8012357del	CA2808392997	GUCY2D	c.1956+7del (n.1956+7del)
17	g.8012357G>A	CA2740095239	GUCY2D	c.1956+7G>A (n.1956+7G>A)	ClinVar
17	g.8012358T>A	CA2808392998	GUCY2D	c.1956+8T>A (n.1956+8T>A)

Number of alleles fetched