Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.42066740C>A	CA411768483	NAGA	c.567G>T (p.Trp189Cys)	gnomAD v4 COSMIC
22	g.42066740C=	CA2406550412	NAGA	c.567G= (p.Trp189=)
22	g.42066740C>G	CA411768484	NAGA	c.567G>C (p.Trp189Cys)
22	g.42066740C>T	CA324656158	NAGA	c.567G>A (p.Trp189Ter)	dbSNP gnomAD v4
22	g.42066741C>A	CA411768485	NAGA	c.566G>T (p.Trp189Leu)	gnomAD v4
22	g.42066741C>G	CA411768486	NAGA	c.566G>C (p.Trp189Ser)
22	g.42066741C>T	CA411768487	NAGA	c.566G>A (p.Trp189Ter)
22	g.42066742A>C	CA411768490	NAGA	c.565T>G (p.Trp189Gly)
22	g.42066742A>G	CA411768488	NAGA	c.565T>C (p.Trp189Arg)	gnomAD v4
22	g.42066742A>T	CA411768489	NAGA	c.565T>A (p.Trp189Arg)
22	g.42066743G>A	CA514677721	NAGA	c.564C>T (p.Ser188=)	gnomAD v4
22	g.42066743G>C	CA411768491	NAGA	c.564C>G (p.Ser188Arg)
22	g.42066743G>T	CA411768492	NAGA	c.564C>A (p.Ser188Arg)	gnomAD v4
22	g.42066744C>A	CA411768493	NAGA	c.563G>T (p.Ser188Ile)	gnomAD v4
22	g.42066744C=	CA2406550413	NAGA	c.563G= (p.Ser188=)
22	g.42066744C>G	CA411768494	NAGA	c.563G>C (p.Ser188Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.42066744C>T	CA411768495	NAGA	c.563G>A (p.Ser188Asn)	gnomAD v4
22	g.42066745T>A	CA411768496	NAGA	c.562A>T (p.Ser188Cys)
22	g.42066745T>C	CA411768498	NAGA	c.562A>G (p.Ser188Gly)
22	g.42066745T>G	CA411768497	NAGA	c.562A>C (p.Ser188Arg)
22	g.42066746G>A	CA514677722	NAGA	c.561C>T (p.Cys187=)	gnomAD v4
22	g.42066746G>C	CA411768499	NAGA	c.561C>G (p.Cys187Trp)
22	g.42066746G>T	CA411768500	NAGA	c.561C>A (p.Cys187Ter)	gnomAD v4
22	g.42066747C>A	CA411768501	NAGA	c.560G>T (p.Cys187Phe)
22	g.42066747C>G	CA411768502	NAGA	c.560G>C (p.Cys187Ser)
22	g.42066747C>T	CA411768503	NAGA	c.560G>A (p.Cys187Tyr)	gnomAD v4
22	g.42066748A>C	CA411768504	NAGA	c.559T>G (p.Cys187Gly)
22	g.42066748A>G	CA411768505	NAGA	c.559T>C (p.Cys187Arg)
22	g.42066748A>T	CA411768506	NAGA	c.559T>A (p.Cys187Ser)
22	g.42066750_42066752del	CA2657022013	NAGA	c.557_559del (p.Ser186del)	gnomAD v4
22	g.42066749G>A	CA514677727	NAGA	c.558C>T (p.Ser186=)
22	g.42066749G>C	CA514677726	NAGA	c.558C>G (p.Ser186=)
22	g.42066749G>T	CA514677725	NAGA	c.558C>A (p.Ser186=)
22	g.42066750G>A	CA411768507	NAGA	c.557C>T (p.Ser186Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066750G>C	CA411768508	NAGA	c.557C>G (p.Ser186Cys)
22	g.42066750G=	CA2406550414	NAGA	c.557C= (p.Ser186=)
22	g.42066750G>T	CA411768509	NAGA	c.557C>A (p.Ser186Tyr)	gnomAD v4
22	g.42066751A>C	CA411768510	NAGA	c.556T>G (p.Ser186Ala)
22	g.42066751A>G	CA411768512	NAGA	c.556T>C (p.Ser186Pro)
22	g.42066751A>T	CA411768511	NAGA	c.556T>A (p.Ser186Thr)
22	g.42066752G>A	CA514677728	NAGA	c.555C>T (p.Phe185=)
22	g.42066752G>C	CA411768513	NAGA	c.555C>G (p.Phe185Leu)
22	g.42066752G>T	CA411768514	NAGA	c.555C>A (p.Phe185Leu)
22	g.42066753A=	CA2406550415	NAGA	c.554T= (p.Phe185=)
22	g.42066753A>C	CA411768515	NAGA	c.554T>G (p.Phe185Cys)
22	g.42066753A>G	CA411768517	NAGA	c.554T>C (p.Phe185Ser)
22	g.42066753A>T	CA411768516	NAGA	c.554T>A (p.Phe185Tyr)	dbSNP gnomAD v2 gnomAD v4
22	g.42066754A>C	CA411768518	NAGA	c.553T>G (p.Phe185Val)
22	g.42066754A>G	CA411768520	NAGA	c.553T>C (p.Phe185Leu)
22	g.42066754A>T	CA411768519	NAGA	c.553T>A (p.Phe185Ile)	gnomAD v4

Number of alleles fetched