Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.42061039C>A	CA411766357	NAGA	c.986G>T (p.Arg329Leu)
22	g.42061039C=	CA2406547748	NAGA	c.986G= (p.Arg329=)
22	g.42061039C>G	CA411766358	NAGA	c.986G>C (p.Arg329Pro)
22	g.42061039C>T	CA127853	NAGA	c.986G>A (p.Arg329Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061040G>A	CA127849	NAGA	c.985C>T (p.Arg329Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.42061040G>C	CA411766359	NAGA	c.985C>G (p.Arg329Gly)
22	g.42061040G=	CA2406547749	NAGA	c.985C= (p.Arg329=)
22	g.42061040G>T	CA514676551	NAGA	c.985C>A (p.Arg329=)	dbSNP gnomAD v4
22	g.42061041C>A	CA411766360	NAGA	c.984G>T (p.Met328Ile)
22	g.42061041C=	CA2406547750	NAGA	c.984G= (p.Met328=)
22	g.42061041C>G	CA411766361	NAGA	c.984G>C (p.Met328Ile)
22	g.42061041C>T	CA411766362	NAGA	c.984G>A (p.Met328Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061042A=	CA2406547751	NAGA	c.983T= (p.Met328=)
22	g.42061042A>C	CA411766363	NAGA	c.983T>G (p.Met328Arg)
22	g.42061042A>G	CA10263627	NAGA	c.983T>C (p.Met328Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061042A>T	CA411766364	NAGA	c.983T>A (p.Met328Lys)
22	g.42061043T>A	CA411766367	NAGA	c.982A>T (p.Met328Leu)	gnomAD v4
22	g.42061043T>C	CA411766365	NAGA	c.982A>G (p.Met328Val)
22	g.42061043T>G	CA411766366	NAGA	c.982A>C (p.Met328Leu)
22	g.42061044G>A	CA514676552	NAGA	c.981C>T (p.Tyr327=)	dbSNP gnomAD v2
22	g.42061044G>C	CA411766368	NAGA	c.981C>G (p.Tyr327Ter)
22	g.42061044G=	CA2406547752	NAGA	c.981C= (p.Tyr327=)
22	g.42061044G>T	CA411766369	NAGA	c.981C>A (p.Tyr327Ter)
22	g.42061045T>A	CA411766370	NAGA	c.980A>T (p.Tyr327Phe)
22	g.42061045T>C	CA10263628	NAGA	c.980A>G (p.Tyr327Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42061045T>G	CA411766371	NAGA	c.980A>C (p.Tyr327Ser)
22	g.42061045T=	CA2406547753	NAGA	c.980A= (p.Tyr327=)
22	g.42061046A>C	CA411766374	NAGA	c.979T>G (p.Tyr327Asp)
22	g.42061046A>G	CA411766372	NAGA	c.979T>C (p.Tyr327His)
22	g.42061046A>T	CA411766373	NAGA	c.979T>A (p.Tyr327Asn)
22	g.42061047C>A	CA514676553	NAGA	c.978G>T (p.Val326=)
22	g.42061047C=	CA2406547754	NAGA	c.978G= (p.Val326=)
22	g.42061047C>G	CA514676554	NAGA	c.978G>C (p.Val326=)
22	g.42061047C>T	CA324650218	NAGA	c.978G>A (p.Val326=)	dbSNP gnomAD v3 gnomAD v4
22	g.42061048A=	CA2406547755	NAGA	c.977T= (p.Val326=)
22	g.42061048A>C	CA411766375	NAGA	c.977T>G (p.Val326Gly)
22	g.42061048A>G	CA10263629	NAGA	c.977T>C (p.Val326Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42061048A>T	CA411766376	NAGA	c.977T>A (p.Val326Glu)
22	g.42061049C>A	CA411766377	NAGA	c.976G>T (p.Val326Leu)
22	g.42061049C=	CA2406547756	NAGA	c.976G= (p.Val326=)
22	g.42061049C>G	CA411766378	NAGA	c.976G>C (p.Val326Leu)
22	g.42061049C>T	CA411766379	NAGA	c.976G>A (p.Val326Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061050T>A	CA411766380	NAGA	c.975A>T (p.Glu325Asp)
22	g.42061050T>C	CA514676558	NAGA	c.975A>G (p.Glu325=)
22	g.42061050T>G	CA411766381	NAGA	c.975A>C (p.Glu325Asp)
22	g.42061051T>A	CA411766382	NAGA	c.974A>T (p.Glu325Val)
22	g.42061051T>C	CA411766383	NAGA	c.974A>G (p.Glu325Gly)
22	g.42061051T>G	CA411766384	NAGA	c.974A>C (p.Glu325Ala)
22	g.42061052del	CA2577736657	NAGA	c.973del (p.Glu325LysfsTer14)
22	g.42061052C>A	CA411766385	NAGA	c.973G>T (p.Glu325Ter)	gnomAD v4

Number of alleles fetched