Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.13753692C>A	CA384054055	GRIN2B	c.635G>T (p.Gly212Val)
12	g.13753692C>G	CA384054054	GRIN2B	c.635G>C (p.Gly212Ala)
12	g.13753692C>T	CA384054053	GRIN2B	c.635G>A (p.Gly212Glu)	COSMIC
12	g.13753693C>A	CA384054056	GRIN2B	c.634G>T (p.Gly212Ter)
12	g.13753693C>G	CA384054057	GRIN2B	c.634G>C (p.Gly212Arg)
12	g.13753693C>T	CA384054058	GRIN2B	c.634G>A (p.Gly212Arg)	COSMIC
12	g.13753694A=	CA2017525928	GRIN2B	c.633T= (p.Asp211=)
12	g.13753694A>C	CA384054059	GRIN2B	c.633T>G (p.Asp211Glu)
12	g.13753694A>G	CA478853713	GRIN2B	c.633T>C (p.Asp211=)	dbSNP gnomAD v2 gnomAD v4
12	g.13753694A>T	CA384054060	GRIN2B	c.633T>A (p.Asp211Glu)
12	g.13753695T>A	CA384054062	GRIN2B	c.632A>T (p.Asp211Val)
12	g.13753695T>C	CA384054064	GRIN2B	c.632A>G (p.Asp211Gly)
12	g.13753695T>G	CA384054065	GRIN2B	c.632A>C (p.Asp211Ala)
12	g.13753696C>A	CA384054066	GRIN2B	c.631G>T (p.Asp211Tyr)
12	g.13753696C=	CA2017525929	GRIN2B	c.631G= (p.Asp211=)
12	g.13753696C>G	CA384054067	GRIN2B	c.631G>C (p.Asp211His)
12	g.13753696C>T	CA384054069	GRIN2B	c.631G>A (p.Asp211Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.13753697G>A	CA6461381	GRIN2B	c.630C>T (p.Asp210=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.13753697G>C	CA384054072	GRIN2B	c.630C>G (p.Asp210Glu)
12	g.13753697G=	CA2017525930	GRIN2B	c.630C= (p.Asp210=)
12	g.13753697G>T	CA384054074	GRIN2B	c.630C>A (p.Asp210Glu)
12	g.13753698T>A	CA384054080	GRIN2B	c.629A>T (p.Asp210Val)
12	g.13753698T>C	CA384054078	GRIN2B	c.629A>G (p.Asp210Gly)
12	g.13753698T>G	CA384054076	GRIN2B	c.629A>C (p.Asp210Ala)
12	g.13753699C>A	CA384054082	GRIN2B	c.628G>T (p.Asp210Tyr)
12	g.13753699C>G	CA384054084	GRIN2B	c.628G>C (p.Asp210His)
12	g.13753699C>T	CA384054086	GRIN2B	c.628G>A (p.Asp210Asn)
12	g.13753700C>A	CA478853719	GRIN2B	c.627G>T (p.Leu209=)
12	g.13753700C>G	CA478853720	GRIN2B	c.627G>C (p.Leu209=)
12	g.13753700C>T	CA478853721	GRIN2B	c.627G>A (p.Leu209=)	ClinVar
12	g.13753701A>C	CA384054088	GRIN2B	c.626T>G (p.Leu209Arg)	gnomAD v4
12	g.13753701A>G	CA384054090	GRIN2B	c.626T>C (p.Leu209Pro)
12	g.13753701A>T	CA384054094	GRIN2B	c.626T>A (p.Leu209Gln)
12	g.13753702G>A	CA478853725	GRIN2B	c.625C>T (p.Leu209=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.13753702G>C	CA384054096	GRIN2B	c.625C>G (p.Leu209Val)
12	g.13753702G=	CA2017525931	GRIN2B	c.625C= (p.Leu209=)
12	g.13753702G>T	CA384054095	GRIN2B	c.625C>A (p.Leu209Met)
12	g.13753703G>A	CA478853727	GRIN2B	c.624C>T (p.Ser208=)
12	g.13753703G>C	CA478853728	GRIN2B	c.624C>G (p.Ser208=)
12	g.13753703G=	CA2017525932	GRIN2B	c.624C= (p.Ser208=)
12	g.13753703G>T	CA478853729	GRIN2B	c.624C>A (p.Ser208=)	dbSNP
12	g.13753704G>A	CA384054097	GRIN2B	c.623C>T (p.Ser208Phe)	ClinVar dbSNP
12	g.13753704G>C	CA384054098	GRIN2B	c.623C>G (p.Ser208Cys)
12	g.13753704G=	CA2017525933	GRIN2B	c.623C= (p.Ser208=)
12	g.13753704G>T	CA384054099	GRIN2B	c.623C>A (p.Ser208Tyr)	gnomAD v4
12	g.13753705A>C	CA384054100	GRIN2B	c.622T>G (p.Ser208Ala)
12	g.13753705A>G	CA384054101	GRIN2B	c.622T>C (p.Ser208Pro)
12	g.13753705A>T	CA384054102	GRIN2B	c.622T>A (p.Ser208Thr)
12	g.13753705_13753707del	CA2505332348	GRIN2B	c.620_622del (p.Met207_Ser208delinsThr)
12	g.13753706C>A	CA384054105	GRIN2B	c.621G>T (p.Met207Ile)

Number of alleles fetched