Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.135817455C>A	CA429204535	LCT	c.1593G>T (p.Gly531=)
2	g.135817455C=	CA1290834791	LCT	c.1593G= (p.Gly531=)
2	g.135817455C>G	CA429204536	LCT	c.1593G>C (p.Gly531=)
2	g.135817455C>T	CA1888371	LCT	c.1593G>A (p.Gly531=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.135817456C>A	CA348605824	LCT	c.1592G>T (p.Gly531Val)
2	g.135817456C>G	CA348605822	LCT	c.1592G>C (p.Gly531Ala)
2	g.135817456C>T	CA348605823	LCT	c.1592G>A (p.Gly531Glu)	gnomAD v4
2	g.135817457C>A	CA348605825	LCT	c.1591G>T (p.Gly531Trp)
2	g.135817457C>G	CA348605826	LCT	c.1591G>C (p.Gly531Arg)
2	g.135817457C>T	CA348605827	LCT	c.1591G>A (p.Gly531Arg)
2	g.135817458A>C	CA348605828	LCT	c.1590T>G (p.Phe530Leu)
2	g.135817458A>G	CA429204537	LCT	c.1590T>C (p.Phe530=)
2	g.135817458A>T	CA348605829	LCT	c.1590T>A (p.Phe530Leu)
2	g.135817459A=	CA1290834792	LCT	c.1589T= (p.Phe530=)
2	g.135817459A>C	CA348605830	LCT	c.1589T>G (p.Phe530Cys)
2	g.135817459A>G	CA348605831	LCT	c.1589T>C (p.Phe530Ser)	dbSNP gnomAD v4
2	g.135817459A>T	CA348605832	LCT	c.1589T>A (p.Phe530Tyr)
2	g.135817460A=	CA1290834793	LCT	c.1588T= (p.Phe530=)
2	g.135817460A>C	CA348605833	LCT	c.1588T>G (p.Phe530Val)
2	g.135817460A>G	CA348605834	LCT	c.1588T>C (p.Phe530Leu)	dbSNP gnomAD v3 gnomAD v4
2	g.135817460A>T	CA348605835	LCT	c.1588T>A (p.Phe530Ile)
2	g.135817461T>A	CA429204538	LCT	c.1587A>T (p.Thr529=)	dbSNP
2	g.135817461T>C	CA429204539	LCT	c.1587A>G (p.Thr529=)
2	g.135817461T>G	CA429204540	LCT	c.1587A>C (p.Thr529=)	dbSNP
2	g.135817461T=	CA1290834794	LCT	c.1587A= (p.Thr529=)
2	g.135817462G>A	CA348605838	LCT	c.1586C>T (p.Thr529Ile)	gnomAD v4
2	g.135817462G>C	CA348605836	LCT	c.1586C>G (p.Thr529Arg)
2	g.135817462G>T	CA348605837	LCT	c.1586C>A (p.Thr529Lys)
2	g.135817463T>A	CA348605839	LCT	c.1585A>T (p.Thr529Ser)
2	g.135817463T>C	CA1888372	LCT	c.1585A>G (p.Thr529Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.135817463T>G	CA348605840	LCT	c.1585A>C (p.Thr529Pro)
2	g.135817463T=	CA1290834795	LCT	c.1585A= (p.Thr529=)
2	g.135817464G>A	CA429204541	LCT	c.1584C>T (p.Ser528=)
2	g.135817464G>C	CA429204542	LCT	c.1584C>G (p.Ser528=)
2	g.135817464G>T	CA429204543	LCT	c.1584C>A (p.Ser528=)
2	g.135817465G>A	CA348605841	LCT	c.1583C>T (p.Ser528Phe)
2	g.135817465G>C	CA348605842	LCT	c.1583C>G (p.Ser528Cys)
2	g.135817465G>T	CA348605843	LCT	c.1583C>A (p.Ser528Tyr)
2	g.135817466A>C	CA348605844	LCT	c.1582T>G (p.Ser528Ala)
2	g.135817466A>G	CA348605845	LCT	c.1582T>C (p.Ser528Pro)
2	g.135817466A>T	CA348605846	LCT	c.1582T>A (p.Ser528Thr)
2	g.135817467G>A	CA429204544	LCT	c.1581C>T (p.Phe527=)
2	g.135817467G>C	CA348605847	LCT	c.1581C>G (p.Phe527Leu)
2	g.135817467G>T	CA348605848	LCT	c.1581C>A (p.Phe527Leu)
2	g.135817468A>C	CA348605851	LCT	c.1580T>G (p.Phe527Cys)
2	g.135817468A>G	CA348605850	LCT	c.1580T>C (p.Phe527Ser)
2	g.135817468A>T	CA348605849	LCT	c.1580T>A (p.Phe527Tyr)
2	g.135817469A>C	CA348605852	LCT	c.1579T>G (p.Phe527Val)
2	g.135817469A>G	CA348605853	LCT	c.1579T>C (p.Phe527Leu)
2	g.135817469A>T	CA348605854	LCT	c.1579T>A (p.Phe527Ile)

Number of alleles fetched