Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.94382573G>A	CA265864086	SERPINA1	c.646+19C>T (n.646+19C>T)	dbSNP gnomAD v4
14	g.94382573G>C	CA265864087	SERPINA1	c.646+19C>G (n.646+19C>G)	dbSNP gnomAD v2 gnomAD v4
14	g.94382573G=	CA2155954681	SERPINA1	c.646+19C= (n.646+19C=)
14	g.94382574C=	CA2155954682	SERPINA1	c.646+18G= (n.646+18G=)
14	g.94382574C>G	CA2626309836	SERPINA1	c.646+18G>C (n.646+18G>C)	ClinVar gnomAD v4
14	g.94382574C>T	CA615831423	SERPINA1	c.646+18G>A (n.646+18G>A)	dbSNP gnomAD v2 gnomAD v4
14	g.94382575_94382576delinsTG	CA2155954683	SERPINA1	c.646+16_646+17delinsCA (n.646+16_646+17delinsCA)
14	g.94382576G>A	CA2626309839	SERPINA1	c.646+16C>T (n.646+16C>T)	ClinVar gnomAD v4
14	g.94382577del	CA7327447	SERPINA1	c.646+16del (n.646+16del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94382577G>A	CA2739278059	SERPINA1	c.646+15C>T (n.646+15C>T)	ClinVar
14	g.94382577G=	CA2155954684	SERPINA1	c.646+15C= (n.646+15C=)
14	g.94382577G>T	CA7327448	SERPINA1	c.646+15C>A (n.646+15C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94382578T>C	CA2626309840	SERPINA1	c.646+14A>G (n.646+14A>G)	gnomAD v4
14	g.94382580G>T	CA2575614285	SERPINA1	c.646+12C>A (n.646+12C>A)	gnomAD v4
14	g.94382581A=	CA2155954685	SERPINA1	c.646+11T= (n.646+11T=)
14	g.94382581A>G	CA7327449	SERPINA1	c.646+11T>C (n.646+11T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94382582G>A	CA2155954687	SERPINA1	c.646+10C>T (n.646+10C>T)	dbSNP
14	g.94382582G=	CA2155954686	SERPINA1	c.646+10C= (n.646+10C=)
14	g.94382583C>T	CA2529310677	SERPINA1	c.646+9G>A (n.646+9G>A)	gnomAD v4
14	g.94382584A=	CA2155954688	SERPINA1	c.646+8T= (n.646+8T=)
14	g.94382584A>T	CA7327450	SERPINA1	c.646+8T>A (n.646+8T>A)	dbSNP ExAC gnomAD v2
14	g.94382585A=	CA2155954690	SERPINA1	c.646+7T= (n.646+7T=)
14	g.94382585A>C	CA7327452	SERPINA1	c.646+7T>G (n.646+7T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94382585A>T	CA2626309843	SERPINA1	c.646+7T>A (n.646+7T>A)	gnomAD v4
14	g.94382585_94382587delinsACC	CA2155954689	SERPINA1	c.646+5_646+7delinsGGT (n.646+5_646+7delinsGGT)
14	g.94382586C>A	CA7327453	SERPINA1	c.646+6G>T (n.646+6G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94382586C=	CA2155954691	SERPINA1	c.646+6G= (n.646+6G=)
14	g.94382586_94382587del	CA7327451	SERPINA1	c.646+5_646+6del (n.646+5_646+6del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94382587C=	CA2155954692	SERPINA1	c.646+5G= (n.646+5G=)
14	g.94382587C>T	CA7327454	SERPINA1	c.646+5G>A (n.646+5G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94382590A=	CA2155954693	SERPINA1	c.646+2T= (n.646+2T=)
14	g.94382590A>C	CA390849229	SERPINA1	c.646+2T>G (n.646+2T>G)
14	g.94382590A>G	CA7327455	SERPINA1	c.646+2T>C (n.646+2T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94382590A>T	CA390849232	SERPINA1	c.646+2T>A (n.646+2T>A)
14	g.94382591C>A	CA274333	SERPINA1	c.646+1G>T (n.646+1G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94382591C=	CA2155954694	SERPINA1	c.646+1G= (n.646+1G=)
14	g.94382591C>G	CA390849234	SERPINA1	c.646+1G>C (n.646+1G>C)
14	g.94382591C>T	CA390849235	SERPINA1	c.646+1G>A (n.646+1G>A)	COSMIC
14	g.94382592del	CA2695219658	SERPINA1	c.646+1del
14	g.94382592C>A	CA7327456	SERPINA1	c.646G>T (p.Gly216Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.94382592C=	CA2155954695	SERPINA1	c.646G= (p.Gly216=)
14	g.94382592C>G	CA390849237	SERPINA1	c.646G>C (p.Gly216Arg)
14	g.94382592C>T	CA390849239	SERPINA1	c.646G>A (p.Gly216Ser)
14	g.94382593T>A	CA390849240	SERPINA1	c.645A>T (p.Lys215Asn)
14	g.94382593T>C	CA7327457	SERPINA1	c.645A>G (p.Lys215=)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.94382593T>G	CA390849242	SERPINA1	c.645A>C (p.Lys215Asn)
14	g.94382593T=	CA2155954696	SERPINA1	c.645A= (p.Lys215=)
14	g.94382594T>A	CA390849246	SERPINA1	c.644A>T (p.Lys215Ile)
14	g.94382594T>C	CA390849247	SERPINA1	c.644A>G (p.Lys215Arg)
14	g.94382594T>G	CA390849245	SERPINA1	c.644A>C (p.Lys215Thr)

Number of alleles fetched