Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.49431720del	CA917744799	MMUT	c.12del (n.12del)	dbSNP
6	g.49431722_49431723del	CA2679045323	MMUT	c.7_8del (n.7_8del)	gnomAD v4
6	g.49431721_49431729dup	CA2578668598	MMUT	c.2252_7dup (n.2252_7dup)
6	g.49431724G>A	CA3846613	MMUT	c.4C>T (n.4C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49431724G>C	CA2770993484	MMUT	c.4C>G (n.4C>G)
6	g.49431724G=	CA1627373944	MMUT	c.4C= (n.4C=)
6	g.49431724G>T	CA825512625	MMUT	c.4C>A (n.4C>A)	dbSNP gnomAD v3 gnomAD v4
6	g.49431725A=	CA1627373945	MMUT	c.3T= (n.3T=)
6	g.49431725A>G	CA3846614	MMUT	c.3T>C (n.3T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49431725A>T	CA2679045324	MMUT	c.3T>A (n.3T>A)	gnomAD v4
6	g.49431726dup	CA1088802368	MMUT	c.2dup (n.2dup)	gnomAD v3 gnomAD v4
6	g.49431728T>A	CA364582814	MMUT	c.2253A>T (p.Ter751Tyr)
6	g.49431728T>C	CA450513291	MMUT	c.2253A>G (p.Ter751=)
6	g.49431728T>G	CA364582815	MMUT	c.2253A>C (p.Ter751Tyr)
6	g.49431729T>A	CA364582816	MMUT	c.2252A>T (p.Ter751Leu)
6	g.49431729T>C	CA450513292	MMUT	c.2252A>G (p.Ter751=)	ClinVar dbSNP gnomAD v4
6	g.49431729T>G	CA364582817	MMUT	c.2252A>C (p.Ter751Ser)
6	g.49431730A=	CA1627373946	MMUT	c.2251T= (p.Ter751=)
6	g.49431730A>C	CA364582818	MMUT	c.2251T>G (p.Ter751Glu)
6	g.49431730A>G	CA364582819	MMUT	c.2251T>C (p.Ter751Gln)
6	g.49431730A>T	CA364582820	MMUT	c.2251T>A (p.Ter751Lys)	dbSNP gnomAD v4
6	g.49431731T>A	CA3846615	MMUT	c.2250A>T (p.Val750=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49431731T>C	CA450513294	MMUT	c.2250A>G (p.Val750=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.49431731T>G	CA450513293	MMUT	c.2250A>C (p.Val750=)
6	g.49431731T=	CA1627373947	MMUT	c.2250A= (p.Val750=)
6	g.49431732A>C	CA364582821	MMUT	c.2249T>G (p.Val750Gly)
6	g.49431732A>G	CA364582822	MMUT	c.2249T>C (p.Val750Ala)	dbSNP
6	g.49431732A>T	CA364582823	MMUT	c.2249T>A (p.Val750Glu)
6	g.49431733C>A	CA364582824	MMUT	c.2248G>T (p.Val750Leu)	gnomAD v4
6	g.49431733C>G	CA364582826	MMUT	c.2248G>C (p.Val750Leu)
6	g.49431733C>T	CA364582825	MMUT	c.2248G>A (p.Val750Ile)
6	g.49431734A>C	CA450513295	MMUT	c.2247T>G (p.Ser749=)
6	g.49431734A>G	CA450513296	MMUT	c.2247T>C (p.Ser749=)
6	g.49431734A>T	CA450513297	MMUT	c.2247T>A (p.Ser749=)
6	g.49431735G>A	CA364582827	MMUT	c.2246C>T (p.Ser749Phe)	dbSNP gnomAD v4
6	g.49431735G>C	CA364582828	MMUT	c.2246C>G (p.Ser749Cys)
6	g.49431735G=	CA1627373948	MMUT	c.2246C= (p.Ser749=)
6	g.49431735G>T	CA139201264	MMUT	c.2246C>A (p.Ser749Tyr)	dbSNP
6	g.49431736A>C	CA364582829	MMUT	c.2245T>G (p.Ser749Ala)
6	g.49431736A>G	CA364582830	MMUT	c.2245T>C (p.Ser749Pro)
6	g.49431736A>T	CA364582831	MMUT	c.2245T>A (p.Ser749Thr)
6	g.49431737T>A	CA364582832	MMUT	c.2244A>T (p.Gln748His)
6	g.49431737T>C	CA450513298	MMUT	c.2244A>G (p.Gln748=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.49431737T>G	CA364582833	MMUT	c.2244A>C (p.Gln748His)	COSMIC
6	g.49431737T=	CA1627373949	MMUT	c.2244A= (p.Gln748=)
6	g.49431738T>A	CA364582834	MMUT	c.2243A>T (p.Gln748Leu)
6	g.49431738T>C	CA364582835	MMUT	c.2243A>G (p.Gln748Arg)	gnomAD v4
6	g.49431738T>G	CA364582836	MMUT	c.2243A>C (p.Gln748Pro)
6	g.49431739G>A	CA3846616	MMUT	c.2242C>T (p.Gln748Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49431739G>C	CA364582837	MMUT	c.2242C>G (p.Gln748Glu)

Number of alleles fetched