Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
2	g.96293090C>A	CA347679554	SNRNP200	c.2042G>T (p.Arg681Leu)	ClinVar dbSNP
2	g.96293090C=	CA1272543502	SNRNP200	c.2042G= (p.Arg681=)
2	g.96293090C>G	CA347679556	SNRNP200	c.2042G>C (p.Arg681Pro)
2	g.96293090C>T	CA270107	SNRNP200	c.2042G>A (p.Arg681His)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.96293091G>A	CA52399864	SNRNP200	c.2041C>T (p.Arg681Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.96293091G>C	CA347679560	SNRNP200	c.2041C>G (p.Arg681Gly)
2	g.96293091G=	CA1272543503	SNRNP200	c.2041C= (p.Arg681=)
2	g.96293091G>T	CA347679558	SNRNP200	c.2041C>A (p.Arg681Ser)
2	g.96293092del	CA2751317105	SNRNP200	c.2041del (p.Arg681ValfsTer24)
2	g.96293092G>A	CA52399865	SNRNP200	c.2040C>T (p.Phe680=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.96293092G>C	CA347679562	SNRNP200	c.2040C>G (p.Phe680Leu)	gnomAD v4
2	g.96293092G=	CA1272543504	SNRNP200	c.2040C= (p.Phe680=)
2	g.96293092G>T	CA347679564	SNRNP200	c.2040C>A (p.Phe680Leu)
2	g.96293093A>C	CA347679568	SNRNP200	c.2039T>G (p.Phe680Cys)
2	g.96293093A>G	CA347679569	SNRNP200	c.2039T>C (p.Phe680Ser)
2	g.96293093A>T	CA347679572	SNRNP200	c.2039T>A (p.Phe680Tyr)
2	g.96293094A>C	CA347679574	SNRNP200	c.2038T>G (p.Phe680Val)
2	g.96293094A>G	CA347679577	SNRNP200	c.2038T>C (p.Phe680Leu)
2	g.96293094A>T	CA347679580	SNRNP200	c.2038T>A (p.Phe680Ile)
2	g.96293095G>A	CA427500174	SNRNP200	c.2037C>T (p.Ser679=)
2	g.96293095G>C	CA347679583	SNRNP200	c.2037C>G (p.Ser679Arg)
2	g.96293095G>T	CA347679585	SNRNP200	c.2037C>A (p.Ser679Arg)
2	g.96293096C>A	CA347679593	SNRNP200	c.2037-1G>T (n.2037-1G>T)
2	g.96293096C>G	CA347679591	SNRNP200	c.2037-1G>C (n.2037-1G>C)
2	g.96293096C>T	CA347679588	SNRNP200	c.2037-1G>A (n.2037-1G>A)
2	g.96293097T>A	CA347679595	SNRNP200	c.2037-2A>T (n.2037-2A>T)
2	g.96293097T>C	CA347679598	SNRNP200	c.2037-2A>G (n.2037-2A>G)
2	g.96293097T>G	CA347679600	SNRNP200	c.2037-2A>C (n.2037-2A>C)
2	g.96293100_96293102del	CA427500176	SNRNP200	c.2037-5_2037-3del (n.2037-5_2037-3del)
2	g.96293099G>A	CA1272543506	SNRNP200	c.2037-4C>T (n.2037-4C>T)	dbSNP
2	g.96293099G>C	CA534376450	SNRNP200	c.2037-4C>G (n.2037-4C>G)	dbSNP gnomAD v2
2	g.96293099G=	CA1272543505	SNRNP200	c.2037-4C= (n.2037-4C=)

Number of alleles fetched