Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.96292989G>A	CA1778768	SNRNP200	c.2143C>T (p.His715Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96292989G>C	CA347678994	SNRNP200	c.2143C>G (p.His715Asp)
2	g.96292989G=	CA1272543468	SNRNP200	c.2143C= (p.His715=)
2	g.96292989G>T	CA1778769	SNRNP200	c.2143C>A (p.His715Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292990T>A	CA347678998	SNRNP200	c.2142A>T (p.Glu714Asp)	gnomAD v4
2	g.96292990T>C	CA427499989	SNRNP200	c.2142A>G (p.Glu714=)	gnomAD v4
2	g.96292990T>G	CA347679000	SNRNP200	c.2142A>C (p.Glu714Asp)
2	g.96292991T>A	CA347679006	SNRNP200	c.2141A>T (p.Glu714Val)
2	g.96292991T>C	CA347679008	SNRNP200	c.2141A>G (p.Glu714Gly)	dbSNP
2	g.96292991T>G	CA347679011	SNRNP200	c.2141A>C (p.Glu714Ala)
2	g.96292992C>A	CA347679018	SNRNP200	c.2140G>T (p.Glu714Ter)
2	g.96292992C=	CA1272543469	SNRNP200	c.2140G= (p.Glu714=)
2	g.96292992C>G	CA1778770	SNRNP200	c.2140G>C (p.Glu714Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292992C>T	CA347679014	SNRNP200	c.2140G>A (p.Glu714Lys)
2	g.96292993C>A	CA347679021	SNRNP200	c.2139G>T (p.Met713Ile)
2	g.96292993C>G	CA347679022	SNRNP200	c.2139G>C (p.Met713Ile)
2	g.96292993C>T	CA347679024	SNRNP200	c.2139G>A (p.Met713Ile)
2	g.96292994A>C	CA347679027	SNRNP200	c.2138T>G (p.Met713Arg)
2	g.96292994A>G	CA347679029	SNRNP200	c.2138T>C (p.Met713Thr)	gnomAD v4
2	g.96292994A>T	CA347679031	SNRNP200	c.2138T>A (p.Met713Lys)
2	g.96292995T>A	CA347679033	SNRNP200	c.2137A>T (p.Met713Leu)
2	g.96292995T>C	CA347679036	SNRNP200	c.2137A>G (p.Met713Val)
2	g.96292995T>G	CA347679038	SNRNP200	c.2137A>C (p.Met713Leu)
2	g.96292996G>A	CA427499998	SNRNP200	c.2136C>T (p.Ile712=)
2	g.96292996G>C	CA347679040	SNRNP200	c.2136C>G (p.Ile712Met)
2	g.96292996G=	CA1272543470	SNRNP200	c.2136C= (p.Ile712=)
2	g.96292996G>T	CA1778771	SNRNP200	c.2136C>A (p.Ile712=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.96292997A=	CA1272543471	SNRNP200	c.2135T= (p.Ile712=)
2	g.96292997A>C	CA347679052	SNRNP200	c.2135T>G (p.Ile712Ser)
2	g.96292997A>G	CA347679050	SNRNP200	c.2135T>C (p.Ile712Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.96292997A>T	CA347679045	SNRNP200	c.2135T>A (p.Ile712Asn)
2	g.96292998T>A	CA347679055	SNRNP200	c.2134A>T (p.Ile712Phe)
2	g.96292998T>C	CA347679059	SNRNP200	c.2134A>G (p.Ile712Val)	gnomAD v4
2	g.96292998T>G	CA347679070	SNRNP200	c.2134A>C (p.Ile712Leu)	dbSNP
2	g.96292998T=	CA1272543472	SNRNP200	c.2134A= (p.Ile712=)
2	g.96293003del	CA2660186111	SNRNP200	c.2134del (p.Ile712SerfsTer?)	gnomAD v4
2	g.96292999T>A	CA347679072	SNRNP200	c.2133A>T (p.Lys711Asn)	dbSNP gnomAD v3 gnomAD v4
2	g.96292999T>C	CA427500001	SNRNP200	c.2133A>G (p.Lys711=)
2	g.96292999T>G	CA347679074	SNRNP200	c.2133A>C (p.Lys711Asn)
2	g.96292999T=	CA1272543473	SNRNP200	c.2133A= (p.Lys711=)
2	g.96293000T>A	CA347679077	SNRNP200	c.2132A>T (p.Lys711Ile)
2	g.96293000T>C	CA347679079	SNRNP200	c.2132A>G (p.Lys711Arg)
2	g.96293000T>G	CA347679081	SNRNP200	c.2132A>C (p.Lys711Thr)
2	g.96293001T>A	CA347679082	SNRNP200	c.2131A>T (p.Lys711Ter)
2	g.96293001T>C	CA347679084	SNRNP200	c.2131A>G (p.Lys711Glu)	gnomAD v4
2	g.96293001T>G	CA347679088	SNRNP200	c.2131A>C (p.Lys711Gln)
2	g.96293002T>A	CA347679091	SNRNP200	c.2130A>T (p.Glu710Asp)
2	g.96293002T>C	CA427500007	SNRNP200	c.2130A>G (p.Glu710=)	gnomAD v4
2	g.96293002T>G	CA347679093	SNRNP200	c.2130A>C (p.Glu710Asp)
2	g.96293003T>A	CA347679105	SNRNP200	c.2129A>T (p.Glu710Val)
2	g.96293003T>C	CA347679100	SNRNP200	c.2129A>G (p.Glu710Gly)
2	g.96293003T>G	CA347679097	SNRNP200	c.2129A>C (p.Glu710Ala)	dbSNP COSMIC
2	g.96293004C>A	CA347679109	SNRNP200	c.2128G>T (p.Glu710Ter)
2	g.96293004C>G	CA347679106	SNRNP200	c.2128G>C (p.Glu710Gln)
2	g.96293004C>T	CA347679110	SNRNP200	c.2128G>A (p.Glu710Lys)
2	g.96293005A=	CA1272543474	SNRNP200	c.2127T= (p.Tyr709=)
2	g.96293005A>C	CA347679113	SNRNP200	c.2127T>G (p.Tyr709Ter)
2	g.96293005A>G	CA52399798	SNRNP200	c.2127T>C (p.Tyr709=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293005A>T	CA347679116	SNRNP200	c.2127T>A (p.Tyr709Ter)
2	g.96293006T>A	CA347679119	SNRNP200	c.2126A>T (p.Tyr709Phe)	COSMIC
2	g.96293006T>C	CA347679122	SNRNP200	c.2126A>G (p.Tyr709Cys)
2	g.96293006T>G	CA347679124	SNRNP200	c.2126A>C (p.Tyr709Ser)
2	g.96293007A>C	CA347679128	SNRNP200	c.2125T>G (p.Tyr709Asp)
2	g.96293007A>G	CA347679130	SNRNP200	c.2125T>C (p.Tyr709His)
2	g.96293007A>T	CA347679132	SNRNP200	c.2125T>A (p.Tyr709Asn)
2	g.96293008G>A	CA427500015	SNRNP200	c.2124C>T (p.Val708=)	gnomAD v4
2	g.96293008G>C	CA1778772	SNRNP200	c.2124C>G (p.Val708=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293008G=	CA1272543475	SNRNP200	c.2124C= (p.Val708=)
2	g.96293008G>T	CA427500018	SNRNP200	c.2124C>A (p.Val708=)
2	g.96293009A>C	CA347679136	SNRNP200	c.2123T>G (p.Val708Gly)
2	g.96293009A>G	CA347679139	SNRNP200	c.2123T>C (p.Val708Ala)
2	g.96293009A>T	CA347679141	SNRNP200	c.2123T>A (p.Val708Asp)
2	g.96293010C>A	CA347679145	SNRNP200	c.2122G>T (p.Val708Phe)
2	g.96293010C=	CA1272543476	SNRNP200	c.2122G= (p.Val708=)
2	g.96293010C>G	CA347679149	SNRNP200	c.2122G>C (p.Val708Leu)
2	g.96293010C>T	CA1778773	SNRNP200	c.2122G>A (p.Val708Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293011G>A	CA1778774	SNRNP200	c.2121C>T (p.Ile707=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.96293011G>C	CA347679160	SNRNP200	c.2121C>G (p.Ile707Met)
2	g.96293011G=	CA1272543477	SNRNP200	c.2121C= (p.Ile707=)
2	g.96293011G>T	CA427500023	SNRNP200	c.2121C>A (p.Ile707=)	ClinVar dbSNP
2	g.96293012A>C	CA347679165	SNRNP200	c.2120T>G (p.Ile707Ser)
2	g.96293012A>G	CA347679167	SNRNP200	c.2120T>C (p.Ile707Thr)
2	g.96293012A>T	CA347679169	SNRNP200	c.2120T>A (p.Ile707Asn)
2	g.96293013T>A	CA347679170	SNRNP200	c.2119A>T (p.Ile707Phe)
2	g.96293013T>C	CA347679173	SNRNP200	c.2119A>G (p.Ile707Val)
2	g.96293013T>G	CA52399805	SNRNP200	c.2119A>C (p.Ile707Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293013T=	CA1272543478	SNRNP200	c.2119A= (p.Ile707=)
2	g.96293014T>A	CA347679177	SNRNP200	c.2118A>T (p.Glu706Asp)
2	g.96293014T>C	CA427500029	SNRNP200	c.2118A>G (p.Glu706=)
2	g.96293014T>G	CA347679180	SNRNP200	c.2118A>C (p.Glu706Asp)
2	g.96293015T>A	CA347679185	SNRNP200	c.2117A>T (p.Glu706Val)
2	g.96293015T>C	CA347679186	SNRNP200	c.2117A>G (p.Glu706Gly)
2	g.96293015T>G	CA347679183	SNRNP200	c.2117A>C (p.Glu706Ala)
2	g.96293016C>A	CA347679190	SNRNP200	c.2116G>T (p.Glu706Ter)
2	g.96293016C>G	CA347679192	SNRNP200	c.2116G>C (p.Glu706Gln)
2	g.96293016C>T	CA347679194	SNRNP200	c.2116G>A (p.Glu706Lys)
2	g.96293017A=	CA1272543479	SNRNP200	c.2115T= (p.Asn705=)
2	g.96293017A>C	CA347679196	SNRNP200	c.2115T>G (p.Asn705Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.96293017A>G	CA427500038	SNRNP200	c.2115T>C (p.Asn705=)
2	g.96293017A>T	CA347679197	SNRNP200	c.2115T>A (p.Asn705Lys)
2	g.96293018T>A	CA347679206	SNRNP200	c.2114A>T (p.Asn705Ile)
2	g.96293018T>C	CA347679203	SNRNP200	c.2114A>G (p.Asn705Ser)	dbSNP gnomAD v4
2	g.96293018T>G	CA347679200	SNRNP200	c.2114A>C (p.Asn705Thr)	gnomAD v4
2	g.96293018T=	CA1272543480	SNRNP200	c.2114A= (p.Asn705=)
2	g.96293019T>A	CA347679208	SNRNP200	c.2113A>T (p.Asn705Tyr)
2	g.96293019T>C	CA347679211	SNRNP200	c.2113A>G (p.Asn705Asp)
2	g.96293019T>G	CA347679215	SNRNP200	c.2113A>C (p.Asn705His)
2	g.96293020C>A	CA347679222	SNRNP200	c.2112G>T (p.Met704Ile)
2	g.96293020C>G	CA347679225	SNRNP200	c.2112G>C (p.Met704Ile)
2	g.96293020C>T	CA347679228	SNRNP200	c.2112G>A (p.Met704Ile)
2	g.96293021A>C	CA347679232	SNRNP200	c.2111T>G (p.Met704Arg)
2	g.96293021A>G	CA347679237	SNRNP200	c.2111T>C (p.Met704Thr)
2	g.96293021A>T	CA347679234	SNRNP200	c.2111T>A (p.Met704Lys)
2	g.96293022T>A	CA347679238	SNRNP200	c.2110A>T (p.Met704Leu)
2	g.96293022T>C	CA347679240	SNRNP200	c.2110A>G (p.Met704Val)	dbSNP gnomAD v4
2	g.96293022T>G	CA347679242	SNRNP200	c.2110A>C (p.Met704Leu)
2	g.96293022T=	CA1272543481	SNRNP200	c.2110A= (p.Met704=)
2	g.96293023G>A	CA427500047	SNRNP200	c.2109C>T (p.Ile703=)
2	g.96293023G>C	CA347679245	SNRNP200	c.2109C>G (p.Ile703Met)
2	g.96293023G>T	CA427500048	SNRNP200	c.2109C>A (p.Ile703=)	gnomAD v4
2	g.96293024A>C	CA347679248	SNRNP200	c.2108T>G (p.Ile703Ser)
2	g.96293024A>G	CA347679252	SNRNP200	c.2108T>C (p.Ile703Thr)
2	g.96293024A>T	CA347679254	SNRNP200	c.2108T>A (p.Ile703Asn)
2	g.96293025T>A	CA347679257	SNRNP200	c.2107A>T (p.Ile703Phe)
2	g.96293025T>C	CA347679259	SNRNP200	c.2107A>G (p.Ile703Val)
2	g.96293025T>G	CA347679262	SNRNP200	c.2107A>C (p.Ile703Leu)
2	g.96293026C>A	CA347679265	SNRNP200	c.2106G>T (p.Gln702His)
2	g.96293026C=	CA1272543482	SNRNP200	c.2106G= (p.Gln702=)
2	g.96293026C>G	CA347679267	SNRNP200	c.2106G>C (p.Gln702His)
2	g.96293026C>T	CA1778775	SNRNP200	c.2106G>A (p.Gln702=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293027T>A	CA347679275	SNRNP200	c.2105A>T (p.Gln702Leu)
2	g.96293027T>C	CA347679285	SNRNP200	c.2105A>G (p.Gln702Arg)
2	g.96293027T>G	CA347679271	SNRNP200	c.2105A>C (p.Gln702Pro)
2	g.96293028G>A	CA347679289	SNRNP200	c.2104C>T (p.Gln702Ter)	ClinVar dbSNP
2	g.96293028G>C	CA347679290	SNRNP200	c.2104C>G (p.Gln702Glu)
2	g.96293028G=	CA1272543483	SNRNP200	c.2104C= (p.Gln702=)
2	g.96293028G>T	CA347679292	SNRNP200	c.2104C>A (p.Gln702Lys)	COSMIC
2	g.96293029G>A	CA427500057	SNRNP200	c.2103C>T (p.Phe701=)
2	g.96293029G>C	CA347679294	SNRNP200	c.2103C>G (p.Phe701Leu)
2	g.96293029G>T	CA347679296	SNRNP200	c.2103C>A (p.Phe701Leu)	gnomAD v4
2	g.96293030A=	CA1272543484	SNRNP200	c.2102T= (p.Phe701=)
2	g.96293030A>C	CA347679303	SNRNP200	c.2102T>G (p.Phe701Cys)	dbSNP gnomAD v2 gnomAD v4
2	g.96293030A>G	CA347679302	SNRNP200	c.2102T>C (p.Phe701Ser)
2	g.96293030A>T	CA347679300	SNRNP200	c.2102T>A (p.Phe701Tyr)
2	g.96293031A>C	CA347679306	SNRNP200	c.2101T>G (p.Phe701Val)
2	g.96293031A>G	CA347679308	SNRNP200	c.2101T>C (p.Phe701Leu)
2	g.96293031A>T	CA347679311	SNRNP200	c.2101T>A (p.Phe701Ile)
2	g.96293032A>C	CA427500066	SNRNP200	c.2100T>G (p.Arg700=)
2	g.96293032A>G	CA427500065	SNRNP200	c.2100T>C (p.Arg700=)
2	g.96293032A>T	CA427500064	SNRNP200	c.2100T>A (p.Arg700=)
2	g.96293033C>A	CA347679313	SNRNP200	c.2099G>T (p.Arg700Leu)
2	g.96293033C=	CA1272543485	SNRNP200	c.2099G= (p.Arg700=)
2	g.96293033C>G	CA347679316	SNRNP200	c.2099G>C (p.Arg700Pro)
2	g.96293033C>T	CA52399813	SNRNP200	c.2099G>A (p.Arg700His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293034G>A	CA347679326	SNRNP200	c.2098C>T (p.Arg700Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293034G>C	CA347679321	SNRNP200	c.2098C>G (p.Arg700Gly)	gnomAD v4
2	g.96293034G=	CA1272543486	SNRNP200	c.2098C= (p.Arg700=)
2	g.96293034G>T	CA347679324	SNRNP200	c.2098C>A (p.Arg700Ser)	gnomAD v4
2	g.96293035C>A	CA347679329	SNRNP200	c.2097G>T (p.Lys699Asn)
2	g.96293035C>G	CA347679331	SNRNP200	c.2097G>C (p.Lys699Asn)
2	g.96293035C>T	CA427500076	SNRNP200	c.2097G>A (p.Lys699=)
2	g.96293036T>A	CA347679333	SNRNP200	c.2096A>T (p.Lys699Met)
2	g.96293036T>C	CA347679335	SNRNP200	c.2096A>G (p.Lys699Arg)	dbSNP gnomAD v4
2	g.96293036T>G	CA347679338	SNRNP200	c.2096A>C (p.Lys699Thr)
2	g.96293036T=	CA1272543487	SNRNP200	c.2096A= (p.Lys699=)
2	g.96293037T>A	CA347679340	SNRNP200	c.2095A>T (p.Lys699Ter)
2	g.96293037T>C	CA347679341	SNRNP200	c.2095A>G (p.Lys699Glu)
2	g.96293037T>G	CA347679344	SNRNP200	c.2095A>C (p.Lys699Gln)
2	g.96293038G>A	CA1778776	SNRNP200	c.2094C>T (p.Ile698=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293038G>C	CA1778777	SNRNP200	c.2094C>G (p.Ile698Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293038G=	CA1272543488	SNRNP200	c.2094C= (p.Ile698=)
2	g.96293038G>T	CA427500081	SNRNP200	c.2094C>A (p.Ile698=)
2	g.96293039A=	CA1272543489	SNRNP200	c.2093T= (p.Ile698=)
2	g.96293039A>C	CA347679353	SNRNP200	c.2093T>G (p.Ile698Ser)
2	g.96293039A>G	CA347679355	SNRNP200	c.2093T>C (p.Ile698Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.96293039A>T	CA347679357	SNRNP200	c.2093T>A (p.Ile698Asn)
2	g.96293040T>A	CA347679367	SNRNP200	c.2092A>T (p.Ile698Phe)
2	g.96293040T>C	CA347679360	SNRNP200	c.2092A>G (p.Ile698Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293040T>G	CA347679363	SNRNP200	c.2092A>C (p.Ile698Leu)
2	g.96293040T=	CA1272543490	SNRNP200	c.2092A= (p.Ile698=)
2	g.96293041A>C	CA427500094	SNRNP200	c.2091T>G (p.Ala697=)	gnomAD v4
2	g.96293041A>G	CA427500093	SNRNP200	c.2091T>C (p.Ala697=)	gnomAD v4
2	g.96293041A>T	CA427500092	SNRNP200	c.2091T>A (p.Ala697=)
2	g.96293042G>A	CA347679368	SNRNP200	c.2090C>T (p.Ala697Val)	dbSNP
2	g.96293042G>C	CA347679369	SNRNP200	c.2090C>G (p.Ala697Gly)	gnomAD v4
2	g.96293042G=	CA1272543491	SNRNP200	c.2090C= (p.Ala697=)
2	g.96293042G>T	CA347679374	SNRNP200	c.2090C>A (p.Ala697Asp)
2	g.96293043C>A	CA347679376	SNRNP200	c.2089G>T (p.Ala697Ser)
2	g.96293043C>G	CA347679378	SNRNP200	c.2089G>C (p.Ala697Pro)
2	g.96293043C>T	CA347679381	SNRNP200	c.2089G>A (p.Ala697Thr)
2	g.96293044T>A	CA347679384	SNRNP200	c.2088A>T (p.Lys696Asn)
2	g.96293044T>C	CA427500102	SNRNP200	c.2088A>G (p.Lys696=)
2	g.96293044T>G	CA52399817	SNRNP200	c.2088A>C (p.Lys696Asn)	dbSNP gnomAD v4
2	g.96293044T=	CA1272543492	SNRNP200	c.2088A= (p.Lys696=)
2	g.96293045T>A	CA347679386	SNRNP200	c.2087A>T (p.Lys696Ile)
2	g.96293045T>C	CA347679388	SNRNP200	c.2087A>G (p.Lys696Arg)
2	g.96293045T>G	CA347679389	SNRNP200	c.2087A>C (p.Lys696Thr)	dbSNP
2	g.96293045T=	CA1272543493	SNRNP200	c.2087A= (p.Lys696=)
2	g.96293046T>A	CA347679391	SNRNP200	c.2086A>T (p.Lys696Ter)
2	g.96293046T>C	CA347679393	SNRNP200	c.2086A>G (p.Lys696Glu)
2	g.96293046T>G	CA347679395	SNRNP200	c.2086A>C (p.Lys696Gln)
2	g.96293047T>A	CA347679396	SNRNP200	c.2085A>T (p.Lys695Asn)
2	g.96293047T>C	CA1778778	SNRNP200	c.2085A>G (p.Lys695=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293047T>G	CA347679398	SNRNP200	c.2085A>C (p.Lys695Asn)
2	g.96293047T=	CA1272543494	SNRNP200	c.2085A= (p.Lys695=)
2	g.96293048T>A	CA347679399	SNRNP200	c.2084A>T (p.Lys695Ile)
2	g.96293048T>C	CA347679401	SNRNP200	c.2084A>G (p.Lys695Arg)
2	g.96293048T>G	CA347679402	SNRNP200	c.2084A>C (p.Lys695Thr)
2	g.96293049T>A	CA347679404	SNRNP200	c.2083A>T (p.Lys695Ter)
2	g.96293049T>C	CA347679406	SNRNP200	c.2083A>G (p.Lys695Glu)
2	g.96293049T>G	CA347679408	SNRNP200	c.2083A>C (p.Lys695Gln)
2	g.96293050C>A	CA347679410	SNRNP200	c.2082G>T (p.Glu694Asp)
2	g.96293050C>G	CA347679411	SNRNP200	c.2082G>C (p.Glu694Asp)
2	g.96293050C>T	CA427500116	SNRNP200	c.2082G>A (p.Glu694=)	gnomAD v4
2	g.96293051T>A	CA347679412	SNRNP200	c.2081A>T (p.Glu694Val)
2	g.96293051T>C	CA347679413	SNRNP200	c.2081A>G (p.Glu694Gly)
2	g.96293051T>G	CA347679415	SNRNP200	c.2081A>C (p.Glu694Ala)
2	g.96293052C>A	CA347679417	SNRNP200	c.2080G>T (p.Glu694Ter)
2	g.96293052C>G	CA347679419	SNRNP200	c.2080G>C (p.Glu694Gln)
2	g.96293052C>T	CA347679418	SNRNP200	c.2080G>A (p.Glu694Lys)
2	g.96293053T>A	CA427500118	SNRNP200	c.2079A>T (p.Thr693=)
2	g.96293053T>C	CA427500120	SNRNP200	c.2079A>G (p.Thr693=)	gnomAD v4
2	g.96293053T>G	CA427500121	SNRNP200	c.2079A>C (p.Thr693=)
2	g.96293054G>A	CA347679420	SNRNP200	c.2078C>T (p.Thr693Ile)
2	g.96293054G>C	CA347679422	SNRNP200	c.2078C>G (p.Thr693Arg)
2	g.96293054G>T	CA347679421	SNRNP200	c.2078C>A (p.Thr693Lys)
2	g.96293055T>A	CA347679423	SNRNP200	c.2077A>T (p.Thr693Ser)
2	g.96293055T>C	CA347679424	SNRNP200	c.2077A>G (p.Thr693Ala)	gnomAD v4
2	g.96293055T>G	CA347679425	SNRNP200	c.2077A>C (p.Thr693Pro)	COSMIC
2	g.96293056G>A	CA427500125	SNRNP200	c.2076C>T (p.Ile692=)
2	g.96293056G>C	CA347679426	SNRNP200	c.2076C>G (p.Ile692Met)
2	g.96293056G>T	CA427500126	SNRNP200	c.2076C>A (p.Ile692=)	gnomAD v4
2	g.96293057A>C	CA347679427	SNRNP200	c.2075T>G (p.Ile692Ser)
2	g.96293057A>G	CA347679428	SNRNP200	c.2075T>C (p.Ile692Thr)
2	g.96293057A>T	CA347679429	SNRNP200	c.2075T>A (p.Ile692Asn)
2	g.96293058T>A	CA347679430	SNRNP200	c.2074A>T (p.Ile692Phe)
2	g.96293058T>C	CA1778779	SNRNP200	c.2074A>G (p.Ile692Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293058T>G	CA347679431	SNRNP200	c.2074A>C (p.Ile692Leu)
2	g.96293058T=	CA1272543495	SNRNP200	c.2074A= (p.Ile692=)
2	g.96293059A>C	CA427500128	SNRNP200	c.2073T>G (p.Gly691=)
2	g.96293059A>G	CA427500130	SNRNP200	c.2073T>C (p.Gly691=)
2	g.96293059A>T	CA427500129	SNRNP200	c.2073T>A (p.Gly691=)
2	g.96293060C>A	CA347679432	SNRNP200	c.2072G>T (p.Gly691Val)
2	g.96293060C>G	CA347679433	SNRNP200	c.2072G>C (p.Gly691Ala)
2	g.96293060C>T	CA347679434	SNRNP200	c.2072G>A (p.Gly691Asp)
2	g.96293061C>A	CA347679435	SNRNP200	c.2071G>T (p.Gly691Cys)
2	g.96293061C>G	CA347679437	SNRNP200	c.2071G>C (p.Gly691Arg)
2	g.96293061C>T	CA347679436	SNRNP200	c.2071G>A (p.Gly691Ser)
2	g.96293062C>A	CA427500135	SNRNP200	c.2070G>T (p.Val690=)
2	g.96293062C>G	CA427500136	SNRNP200	c.2070G>C (p.Val690=)
2	g.96293062C>T	CA427500137	SNRNP200	c.2070G>A (p.Val690=)
2	g.96293063A>C	CA347679438	SNRNP200	c.2069T>G (p.Val690Gly)
2	g.96293063A>G	CA347679439	SNRNP200	c.2069T>C (p.Val690Ala)
2	g.96293063A>T	CA347679440	SNRNP200	c.2069T>A (p.Val690Glu)
2	g.96293064C>A	CA347679441	SNRNP200	c.2068G>T (p.Val690Leu)
2	g.96293064C>G	CA347679442	SNRNP200	c.2068G>C (p.Val690Leu)
2	g.96293064C>T	CA347679443	SNRNP200	c.2068G>A (p.Val690Met)	ClinVar dbSNP
2	g.96293065A=	CA1272543496	SNRNP200	c.2067T= (p.Tyr689=)
2	g.96293065A>C	CA347679444	SNRNP200	c.2067T>G (p.Tyr689Ter)
2	g.96293065A>G	CA1778780	SNRNP200	c.2067T>C (p.Tyr689=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293065A>T	CA347679445	SNRNP200	c.2067T>A (p.Tyr689Ter)	gnomAD v4
2	g.96293066T>A	CA52399850	SNRNP200	c.2066A>T (p.Tyr689Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.96293066T>C	CA347679447	SNRNP200	c.2066A>G (p.Tyr689Cys)	ClinVar dbSNP
2	g.96293066T>G	CA347679446	SNRNP200	c.2066A>C (p.Tyr689Ser)
2	g.96293066T=	CA1272543497	SNRNP200	c.2066A= (p.Tyr689=)
2	g.96293067A>C	CA347679448	SNRNP200	c.2065T>G (p.Tyr689Asp)
2	g.96293067A>G	CA347679449	SNRNP200	c.2065T>C (p.Tyr689His)
2	g.96293067A>T	CA347679450	SNRNP200	c.2065T>A (p.Tyr689Asn)
2	g.96293068T>A	CA427500141	SNRNP200	c.2064A>T (p.Thr688=)
2	g.96293068T>C	CA427500142	SNRNP200	c.2064A>G (p.Thr688=)	gnomAD v4
2	g.96293068T>G	CA427500143	SNRNP200	c.2064A>C (p.Thr688=)	gnomAD v4
2	g.96293069G>A	CA347679451	SNRNP200	c.2063C>T (p.Thr688Ile)	gnomAD v4
2	g.96293069G>C	CA347679452	SNRNP200	c.2063C>G (p.Thr688Arg)	gnomAD v4
2	g.96293069G>T	CA347679453	SNRNP200	c.2063C>A (p.Thr688Lys)
2	g.96293070T>A	CA347679461	SNRNP200	c.2062A>T (p.Thr688Ser)
2	g.96293070T>C	CA1778781	SNRNP200	c.2062A>G (p.Thr688Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293070T>G	CA347679458	SNRNP200	c.2062A>C (p.Thr688Pro)
2	g.96293070T=	CA1272543498	SNRNP200	c.2062A= (p.Thr688=)
2	g.96293071C>A	CA347679463	SNRNP200	c.2061G>T (p.Gln687His)
2	g.96293071C>G	CA347679466	SNRNP200	c.2061G>C (p.Gln687His)
2	g.96293071C>T	CA427500145	SNRNP200	c.2061G>A (p.Gln687=)
2	g.96293072T>A	CA347679469	SNRNP200	c.2060A>T (p.Gln687Leu)
2	g.96293072T>C	CA347679471	SNRNP200	c.2060A>G (p.Gln687Arg)
2	g.96293072T>G	CA347679475	SNRNP200	c.2060A>C (p.Gln687Pro)
2	g.96293073G>A	CA347679478	SNRNP200	c.2059C>T (p.Gln687Ter)
2	g.96293073G>C	CA347679481	SNRNP200	c.2059C>G (p.Gln687Glu)
2	g.96293073G>T	CA347679479	SNRNP200	c.2059C>A (p.Gln687Lys)
2	g.96293074T>A	CA347679484	SNRNP200	c.2058A>T (p.Glu686Asp)
2	g.96293074T>C	CA427500147	SNRNP200	c.2058A>G (p.Glu686=)	gnomAD v4
2	g.96293074T>G	CA347679487	SNRNP200	c.2058A>C (p.Glu686Asp)
2	g.96293075T>A	CA347679490	SNRNP200	c.2057A>T (p.Glu686Val)
2	g.96293075T>C	CA347679492	SNRNP200	c.2057A>G (p.Glu686Gly)
2	g.96293075T>G	CA347679495	SNRNP200	c.2057A>C (p.Glu686Ala)	gnomAD v4
2	g.96293076C>A	CA347679499	SNRNP200	c.2056G>T (p.Glu686Ter)	gnomAD v4
2	g.96293076C>G	CA347679500	SNRNP200	c.2056G>C (p.Glu686Gln)
2	g.96293076C>T	CA347679503	SNRNP200	c.2056G>A (p.Glu686Lys)
2	g.96293077C>A	CA427500151	SNRNP200	c.2055G>T (p.Leu685=)
2	g.96293077C>G	CA427500152	SNRNP200	c.2055G>C (p.Leu685=)
2	g.96293077C>T	CA427500153	SNRNP200	c.2055G>A (p.Leu685=)	gnomAD v4
2	g.96293078A>C	CA347679505	SNRNP200	c.2054T>G (p.Leu685Arg)
2	g.96293078A>G	CA347679506	SNRNP200	c.2054T>C (p.Leu685Pro)
2	g.96293078A>T	CA347679508	SNRNP200	c.2054T>A (p.Leu685Gln)
2	g.96293079G>A	CA427500154	SNRNP200	c.2053C>T (p.Leu685=)
2	g.96293079G>C	CA347679513	SNRNP200	c.2053C>G (p.Leu685Val)
2	g.96293079G>T	CA347679511	SNRNP200	c.2053C>A (p.Leu685Met)
2	g.96293080A>C	CA427500159	SNRNP200	c.2052T>G (p.Pro684=)
2	g.96293080A>G	CA427500158	SNRNP200	c.2052T>C (p.Pro684=)
2	g.96293080A>T	CA427500160	SNRNP200	c.2052T>A (p.Pro684=)
2	g.96293081G>A	CA347679515	SNRNP200	c.2051C>T (p.Pro684Leu)
2	g.96293081G>C	CA347679520	SNRNP200	c.2051C>G (p.Pro684Arg)
2	g.96293081G>T	CA347679518	SNRNP200	c.2051C>A (p.Pro684His)
2	g.96293082G>A	CA347679522	SNRNP200	c.2050C>T (p.Pro684Ser)
2	g.96293082G>C	CA347679527	SNRNP200	c.2050C>G (p.Pro684Ala)
2	g.96293082G>T	CA347679525	SNRNP200	c.2050C>A (p.Pro684Thr)
2	g.96293083C>A	CA427500162	SNRNP200	c.2049G>T (p.Val683=)
2	g.96293083C>G	CA427500164	SNRNP200	c.2049G>C (p.Val683=)
2	g.96293083C>T	CA427500165	SNRNP200	c.2049G>A (p.Val683=)
2	g.96293084A>C	CA347679529	SNRNP200	c.2048T>G (p.Val683Gly)
2	g.96293084A>G	CA347679531	SNRNP200	c.2048T>C (p.Val683Ala)
2	g.96293084A>T	CA347679530	SNRNP200	c.2048T>A (p.Val683Glu)
2	g.96293085C>A	CA270108	SNRNP200	c.2047G>T (p.Val683Leu)	ClinVar dbSNP
2	g.96293085C=	CA1272543499	SNRNP200	c.2047G= (p.Val683=)
2	g.96293085C>G	CA347679535	SNRNP200	c.2047G>C (p.Val683Leu)
2	g.96293085C>T	CA347679533	SNRNP200	c.2047G>A (p.Val683Met)	ClinVar
2	g.96293086T>A	CA427500166	SNRNP200	c.2046A>T (p.Pro682=)
2	g.96293086T>C	CA427500167	SNRNP200	c.2046A>G (p.Pro682=)
2	g.96293086T>G	CA427500168	SNRNP200	c.2046A>C (p.Pro682=)	gnomAD v4
2	g.96293087G>A	CA347679537	SNRNP200	c.2045C>T (p.Pro682Leu)
2	g.96293087G>C	CA347679539	SNRNP200	c.2045C>G (p.Pro682Arg)
2	g.96293087G>T	CA347679541	SNRNP200	c.2045C>A (p.Pro682Gln)
2	g.96293088G>A	CA347679545	SNRNP200	c.2044C>T (p.Pro682Ser)	ClinVar dbSNP
2	g.96293088G>C	CA347679547	SNRNP200	c.2044C>G (p.Pro682Ala)	ClinVar
2	g.96293088G=	CA1272543500	SNRNP200	c.2044C= (p.Pro682=)
2	g.96293088G>T	CA347679550	SNRNP200	c.2044C>A (p.Pro682Thr)
2	g.96293089A=	CA1272543501	SNRNP200	c.2043T= (p.Arg681=)
2	g.96293089A>C	CA427500169	SNRNP200	c.2043T>G (p.Arg681=)
2	g.96293089A>G	CA1778782	SNRNP200	c.2043T>C (p.Arg681=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293089A>T	CA427500170	SNRNP200	c.2043T>A (p.Arg681=)

Number of alleles fetched