Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.151674476_151674477del	CA2577122547	NEB	c.3987+2_3987+3del
2	g.151674475A=	CA1298292863	NEB	c.3987+2T= (n.3987+2T=)
2	g.151674475A>C	CA1910771	NEB	c.3987+2T>G (n.3987+2T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151674475A>G	CA348817610	NEB	c.3987+2T>C (n.3987+2T>C)
2	g.151674475A>T	CA348817611	NEB	c.3987+2T>A (n.3987+2T>A)
2	g.151674475_151674476delinsAC	CA1298292866	NEB	c.3987+1_3987+2delinsGT (n.3987+1_3987+2delinsGT)
2	g.151674475_151674476delinsCA	CA274167	NEB	c.3987+1_3987+2delinsTG (n.3987+1_3987+2delinsTG)	ClinVar dbSNP
2	g.151674476C>A	CA1910772	NEB	c.3987+1G>T (n.3987+1G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151674476C=	CA1298292878	NEB	c.3987+1G= (n.3987+1G=)
2	g.151674476C>G	CA348817612	NEB	c.3987+1G>C (n.3987+1G>C)
2	g.151674476C>T	CA1910773	NEB	c.3987+1G>A (n.3987+1G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151674477A=	CA1298292885	NEB	c.3987T= (p.Asp1329=)
2	g.151674477A>C	CA348817613	NEB	c.3987T>G (p.Asp1329Glu)
2	g.151674477A>G	CA1910774	NEB	c.3987T>C (p.Asp1329=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151674477A>T	CA348817614	NEB	c.3987T>A (p.Asp1329Glu)
2	g.151674478T>A	CA348817615	NEB	c.3986A>T (p.Asp1329Val)
2	g.151674478T>C	CA348817616	NEB	c.3986A>G (p.Asp1329Gly)
2	g.151674478T>G	CA1910775	NEB	c.3986A>C (p.Asp1329Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151674478T=	CA1298292893	NEB	c.3986A= (p.Asp1329=)
2	g.151674479C>A	CA348817617	NEB	c.3985G>T (p.Asp1329Tyr)
2	g.151674479C>G	CA348817618	NEB	c.3985G>C (p.Asp1329His)
2	g.151674479C>T	CA348817619	NEB	c.3985G>A (p.Asp1329Asn)	gnomAD v4
2	g.151674480A>C	CA348817620	NEB	c.3984T>G (p.Ser1328Arg)
2	g.151674480A>G	CA429243008	NEB	c.3984T>C (p.Ser1328=)
2	g.151674480A>T	CA348817621	NEB	c.3984T>A (p.Ser1328Arg)
2	g.151674481C>A	CA348817622	NEB	c.3983G>T (p.Ser1328Ile)	COSMIC COSMIC COSMIC
2	g.151674481C>G	CA348817623	NEB	c.3983G>C (p.Ser1328Thr)
2	g.151674481C>T	CA348817624	NEB	c.3983G>A (p.Ser1328Asn)
2	g.151674482T>A	CA348817625	NEB	c.3982A>T (p.Ser1328Cys)
2	g.151674482T>C	CA348817626	NEB	c.3982A>G (p.Ser1328Gly)
2	g.151674482T>G	CA348817627	NEB	c.3982A>C (p.Ser1328Arg)
2	g.151674483G>A	CA429243013	NEB	c.3981C>T (p.Ala1327=)
2	g.151674483G>C	CA429243014	NEB	c.3981C>G (p.Ala1327=)
2	g.151674483G>T	CA429243015	NEB	c.3981C>A (p.Ala1327=)
2	g.151674484G>A	CA348817630	NEB	c.3980C>T (p.Ala1327Val)	dbSNP gnomAD v2 gnomAD v4
2	g.151674484G>C	CA348817629	NEB	c.3980C>G (p.Ala1327Gly)
2	g.151674484G=	CA1298292899	NEB	c.3980C= (p.Ala1327=)
2	g.151674484G>T	CA348817628	NEB	c.3980C>A (p.Ala1327Asp)
2	g.151674485C>A	CA348817632	NEB	c.3979G>T (p.Ala1327Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.151674485C=	CA1298292902	NEB	c.3979G= (p.Ala1327=)
2	g.151674485C>G	CA348817631	NEB	c.3979G>C (p.Ala1327Pro)
2	g.151674485C>T	CA1910776	NEB	c.3979G>A (p.Ala1327Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151674486A=	CA1298292907	NEB	c.3978T= (p.Ile1326=)
2	g.151674486A>C	CA348817633	NEB	c.3978T>G (p.Ile1326Met)	gnomAD v4
2	g.151674486A>G	CA429243017	NEB	c.3978T>C (p.Ile1326=)
2	g.151674486A>T	CA57653240	NEB	c.3978T>A (p.Ile1326=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.151674487A>C	CA348817634	NEB	c.3977T>G (p.Ile1326Ser)
2	g.151674487A>G	CA348817635	NEB	c.3977T>C (p.Ile1326Thr)
2	g.151674487A>T	CA348817636	NEB	c.3977T>A (p.Ile1326Asn)
2	g.151674488T>A	CA348817637	NEB	c.3976A>T (p.Ile1326Phe)

Number of alleles fetched