Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.135817558T>A	CA348606060	LCT	c.1490A>T (p.His497Leu)
2	g.135817558T>C	CA348606061	LCT	c.1490A>G (p.His497Arg)
2	g.135817558T>G	CA348606059	LCT	c.1490A>C (p.His497Pro)
2	g.135817559G>A	CA348606064	LCT	c.1489C>T (p.His497Tyr)	gnomAD v4
2	g.135817559G>C	CA348606062	LCT	c.1489C>G (p.His497Asp)
2	g.135817559G>T	CA348606063	LCT	c.1489C>A (p.His497Asn)
2	g.135817560G>A	CA429204625	LCT	c.1488C>T (p.Phe496=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.135817560G>C	CA348606065	LCT	c.1488C>G (p.Phe496Leu)
2	g.135817560G=	CA1290834830	LCT	c.1488C= (p.Phe496=)
2	g.135817560G>T	CA348606066	LCT	c.1488C>A (p.Phe496Leu)	COSMIC
2	g.135817561A>C	CA348606067	LCT	c.1487T>G (p.Phe496Cys)
2	g.135817561A>G	CA348606068	LCT	c.1487T>C (p.Phe496Ser)
2	g.135817561A>T	CA348606069	LCT	c.1487T>A (p.Phe496Tyr)	dbSNP
2	g.135817562A>C	CA348606070	LCT	c.1486T>G (p.Phe496Val)
2	g.135817562A>G	CA348606071	LCT	c.1486T>C (p.Phe496Leu)
2	g.135817562A>T	CA348606072	LCT	c.1486T>A (p.Phe496Ile)
2	g.135817563C>A	CA429204627	LCT	c.1485G>T (p.Leu495=)
2	g.135817563C>G	CA429204628	LCT	c.1485G>C (p.Leu495=)	dbSNP
2	g.135817563C>T	CA429204630	LCT	c.1485G>A (p.Leu495=)	gnomAD v4
2	g.135817564A>C	CA348606073	LCT	c.1484T>G (p.Leu495Arg)
2	g.135817564A>G	CA348606074	LCT	c.1484T>C (p.Leu495Pro)
2	g.135817564A>T	CA348606075	LCT	c.1484T>A (p.Leu495Gln)
2	g.135817565G>A	CA429204633	LCT	c.1483C>T (p.Leu495=)
2	g.135817565G>C	CA348606077	LCT	c.1483C>G (p.Leu495Val)
2	g.135817565G=	CA1290834831	LCT	c.1483C= (p.Leu495=)
2	g.135817565G>T	CA348606076	LCT	c.1483C>A (p.Leu495Met)	dbSNP gnomAD v3 gnomAD v4
2	g.135817566C>A	CA429204634	LCT	c.1482G>T (p.Thr494=)	dbSNP
2	g.135817566C=	CA1290834832	LCT	c.1482G= (p.Thr494=)
2	g.135817566C>G	CA429204635	LCT	c.1482G>C (p.Thr494=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.135817566C>T	CA1888382	LCT	c.1482G>A (p.Thr494=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.135817567G>A	CA348606078	LCT	c.1481C>T (p.Thr494Met)	dbSNP gnomAD v4
2	g.135817567G>C	CA348606079	LCT	c.1481C>G (p.Thr494Arg)
2	g.135817567G=	CA1290834833	LCT	c.1481C= (p.Thr494=)
2	g.135817567G>T	CA348606080	LCT	c.1481C>A (p.Thr494Lys)	dbSNP gnomAD v3 gnomAD v4
2	g.135817568T>A	CA348606081	LCT	c.1480A>T (p.Thr494Ser)
2	g.135817568T>C	CA348606082	LCT	c.1480A>G (p.Thr494Ala)
2	g.135817568T>G	CA348606083	LCT	c.1480A>C (p.Thr494Pro)
2	g.135817569G>A	CA429204637	LCT	c.1479C>T (p.Ala493=)	gnomAD v4
2	g.135817569G>C	CA429204638	LCT	c.1479C>G (p.Ala493=)
2	g.135817569G>T	CA429204639	LCT	c.1479C>A (p.Ala493=)
2	g.135817570G>A	CA348606084	LCT	c.1478C>T (p.Ala493Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.135817570G>C	CA348606085	LCT	c.1478C>G (p.Ala493Gly)
2	g.135817570G=	CA1290834834	LCT	c.1478C= (p.Ala493=)
2	g.135817570G>T	CA348606086	LCT	c.1478C>A (p.Ala493Asp)
2	g.135817571C>A	CA348606087	LCT	c.1477G>T (p.Ala493Ser)
2	g.135817571C>G	CA348606088	LCT	c.1477G>C (p.Ala493Pro)	dbSNP
2	g.135817571C>T	CA348606089	LCT	c.1477G>A (p.Ala493Thr)
2	g.135817572C>A	CA348606091	LCT	c.1476G>T (p.Met492Ile)
2	g.135817572C>G	CA348606092	LCT	c.1476G>C (p.Met492Ile)
2	g.135817572C>T	CA348606090	LCT	c.1476G>A (p.Met492Ile)

Number of alleles fetched