Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.151672365_151672368del	CA1298290923	NEB	c.4299+4_4299+7del (n.4299+4_4299+7del)	dbSNP
2	g.151672366T>C	CA2533011275	NEB	c.4299+3A>G (n.4299+3A>G)
2	g.151672367A>C	CA348816354	NEB	c.4299+2T>G (n.4299+2T>G)
2	g.151672367A>G	CA348816352	NEB	c.4299+2T>C (n.4299+2T>C)
2	g.151672367A>T	CA348816353	NEB	c.4299+2T>A (n.4299+2T>A)
2	g.151672368C>A	CA348816355	NEB	c.4299+1G>T (n.4299+1G>T)
2	g.151672368C>G	CA348816356	NEB	c.4299+1G>C (n.4299+1G>C)
2	g.151672368C>T	CA348816357	NEB	c.4299+1G>A (n.4299+1G>A)	gnomAD v4
2	g.151672369A=	CA1298290938	NEB	c.4299T= (p.Asp1433=)
2	g.151672369A>C	CA348816358	NEB	c.4299T>G (p.Asp1433Glu)
2	g.151672369A>G	CA429453377	NEB	c.4299T>C (p.Asp1433=)	dbSNP
2	g.151672369A>T	CA348816359	NEB	c.4299T>A (p.Asp1433Glu)
2	g.151672370T>A	CA348816361	NEB	c.4298A>T (p.Asp1433Val)
2	g.151672370T>C	CA348816360	NEB	c.4298A>G (p.Asp1433Gly)
2	g.151672370T>G	CA1910682	NEB	c.4298A>C (p.Asp1433Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151672370T=	CA1298290941	NEB	c.4298A= (p.Asp1433=)
2	g.151672371C>A	CA348816362	NEB	c.4297G>T (p.Asp1433Tyr)
2	g.151672371C>G	CA348816363	NEB	c.4297G>C (p.Asp1433His)
2	g.151672371C>T	CA348816364	NEB	c.4297G>A (p.Asp1433Asn)
2	g.151672372A>C	CA348816365	NEB	c.4296T>G (p.Ser1432Arg)
2	g.151672372A>G	CA429453378	NEB	c.4296T>C (p.Ser1432=)	gnomAD v4
2	g.151672372A>T	CA348816366	NEB	c.4296T>A (p.Ser1432Arg)
2	g.151672373C>A	CA348816367	NEB	c.4295G>T (p.Ser1432Ile)
2	g.151672373C=	CA1298290943	NEB	c.4295G= (p.Ser1432=)
2	g.151672373C>G	CA348816368	NEB	c.4295G>C (p.Ser1432Thr)
2	g.151672373C>T	CA1910683	NEB	c.4295G>A (p.Ser1432Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151672374T>A	CA348816369	NEB	c.4294A>T (p.Ser1432Cys)
2	g.151672374T>C	CA348816370	NEB	c.4294A>G (p.Ser1432Gly)
2	g.151672374T>G	CA348816371	NEB	c.4294A>C (p.Ser1432Arg)
2	g.151672375C>A	CA348816372	NEB	c.4293G>T (p.Gln1431His)
2	g.151672375C>G	CA348816373	NEB	c.4293G>C (p.Gln1431His)
2	g.151672375C>T	CA429453379	NEB	c.4293G>A (p.Gln1431=)	COSMIC COSMIC COSMIC
2	g.151672376T>A	CA348816374	NEB	c.4292A>T (p.Gln1431Leu)
2	g.151672376T>C	CA348816376	NEB	c.4292A>G (p.Gln1431Arg)	gnomAD v4
2	g.151672376T>G	CA348816375	NEB	c.4292A>C (p.Gln1431Pro)
2	g.151672377G>A	CA348816377	NEB	c.4291C>T (p.Gln1431Ter)
2	g.151672377G>C	CA348816378	NEB	c.4291C>G (p.Gln1431Glu)
2	g.151672377G>T	CA348816379	NEB	c.4291C>A (p.Gln1431Lys)
2	g.151672378A>C	CA348816380	NEB	c.4290T>G (p.Ile1430Met)
2	g.151672378A>G	CA429453381	NEB	c.4290T>C (p.Ile1430=)
2	g.151672378A>T	CA429453380	NEB	c.4290T>A (p.Ile1430=)
2	g.151672379A=	CA1298290945	NEB	c.4289T= (p.Ile1430=)
2	g.151672379A>C	CA348816381	NEB	c.4289T>G (p.Ile1430Ser)
2	g.151672379A>G	CA348816382	NEB	c.4289T>C (p.Ile1430Thr)
2	g.151672379A>T	CA1910684	NEB	c.4289T>A (p.Ile1430Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151672380T>A	CA348816383	NEB	c.4288A>T (p.Ile1430Phe)
2	g.151672380T>C	CA348816384	NEB	c.4288A>G (p.Ile1430Val)
2	g.151672380T>G	CA348816385	NEB	c.4288A>C (p.Ile1430Leu)
2	g.151672381T>A	CA348816386	NEB	c.4287A>T (p.Gln1429His)
2	g.151672381T>C	CA429453382	NEB	c.4287A>G (p.Gln1429=)	ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched