Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.49447669C>A	CA312768	MMUT	c.1560+1G>T (n.1560+1G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.49447669C=	CA1627387606	MMUT	c.1560+1G= (n.1560+1G=)
6	g.49447669C>G	CA364397070	MMUT	c.1560+1G>C (n.1560+1G>C)
6	g.49447669C>T	CA364397071	MMUT	c.1560+1G>A (n.1560+1G>A)	ClinVar gnomAD v4
6	g.49447670C>A	CA364397072	MMUT	c.1560G>T (p.Lys520Asn)	gnomAD v4
6	g.49447670C>G	CA364397073	MMUT	c.1560G>C (p.Lys520Asn)
6	g.49447670C>T	CA450398051	MMUT	c.1560G>A (p.Lys520=)	ClinVar dbSNP gnomAD v4
6	g.49447671T>A	CA364397074	MMUT	c.1559A>T (p.Lys520Met)
6	g.49447671T>C	CA364397075	MMUT	c.1559A>G (p.Lys520Arg)	dbSNP
6	g.49447671T>G	CA3846850	MMUT	c.1559A>C (p.Lys520Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49447671T=	CA1627387607	MMUT	c.1559A= (p.Lys520=)
6	g.49447672T>A	CA364397076	MMUT	c.1558A>T (p.Lys520Ter)
6	g.49447672T>C	CA364397077	MMUT	c.1558A>G (p.Lys520Glu)
6	g.49447672T>G	CA364397078	MMUT	c.1558A>C (p.Lys520Gln)	gnomAD v4
6	g.49447673C>A	CA364397079	MMUT	c.1557G>T (p.Lys519Asn)	gnomAD v4 COSMIC
6	g.49447673C>G	CA364397080	MMUT	c.1557G>C (p.Lys519Asn)	gnomAD v4
6	g.49447673C>T	CA450398064	MMUT	c.1557G>A (p.Lys519=)	gnomAD v4
6	g.49447674T>A	CA364397081	MMUT	c.1556A>T (p.Lys519Met)
6	g.49447674T>C	CA364397082	MMUT	c.1556A>G (p.Lys519Arg)	gnomAD v4
6	g.49447674T>G	CA364397083	MMUT	c.1556A>C (p.Lys519Thr)
6	g.49447675T>A	CA364397084	MMUT	c.1555A>T (p.Lys519Ter)
6	g.49447675T>C	CA138795779	MMUT	c.1555A>G (p.Lys519Glu)	dbSNP
6	g.49447675T>G	CA364397085	MMUT	c.1555A>C (p.Lys519Gln)	gnomAD v4
6	g.49447675T=	CA1627387608	MMUT	c.1555A= (p.Lys519=)
6	g.49447676A=	CA1627387609	MMUT	c.1554T= (p.Leu518=)
6	g.49447676A>C	CA450398072	MMUT	c.1554T>G (p.Leu518=)	dbSNP gnomAD v3 gnomAD v4
6	g.49447676A>G	CA450398074	MMUT	c.1554T>C (p.Leu518=)
6	g.49447676A>T	CA450398075	MMUT	c.1554T>A (p.Leu518=)	gnomAD v4
6	g.49447677A=	CA1627387610	MMUT	c.1553T= (p.Leu518=)
6	g.49447677A>C	CA364397086	MMUT	c.1553T>G (p.Leu518Arg)
6	g.49447677A>G	CA347864	MMUT	c.1553T>C (p.Leu518Pro)	ClinVar dbSNP
6	g.49447677A>T	CA364397087	MMUT	c.1553T>A (p.Leu518His)
6	g.49447678G>A	CA364397088	MMUT	c.1552C>T (p.Leu518Phe)
6	g.49447678G>C	CA3846851	MMUT	c.1552C>G (p.Leu518Val)	dbSNP ExAC
6	g.49447678G=	CA1627387611	MMUT	c.1552C= (p.Leu518=)
6	g.49447678G>T	CA364397089	MMUT	c.1552C>A (p.Leu518Ile)	gnomAD v3 gnomAD v4
6	g.49447679T>A	CA364397090	MMUT	c.1551A>T (p.Lys517Asn)
6	g.49447679T>C	CA450398087	MMUT	c.1551A>G (p.Lys517=)
6	g.49447679T>G	CA364397091	MMUT	c.1551A>C (p.Lys517Asn)
6	g.49447683del	CA2679046411	MMUT	c.1551del (p.Lys517AsnfsTer21)	gnomAD v4
6	g.49447680T>A	CA364397092	MMUT	c.1550A>T (p.Lys517Ile)
6	g.49447680T>C	CA364397094	MMUT	c.1550A>G (p.Lys517Arg)
6	g.49447680T>G	CA364397093	MMUT	c.1550A>C (p.Lys517Thr)
6	g.49447681T>A	CA364397095	MMUT	c.1549A>T (p.Lys517Ter)
6	g.49447681T>C	CA364397096	MMUT	c.1549A>G (p.Lys517Glu)
6	g.49447681T>G	CA364397097	MMUT	c.1549A>C (p.Lys517Gln)
6	g.49447682T>A	CA364397098	MMUT	c.1548A>T (p.Glu516Asp)
6	g.49447682T>C	CA450398096	MMUT	c.1548A>G (p.Glu516=)
6	g.49447682T>G	CA364397099	MMUT	c.1548A>C (p.Glu516Asp)
6	g.49447683T>A	CA364397100	MMUT	c.1547A>T (p.Glu516Val)

Number of alleles fetched