Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80104927_80104928delinsAG	CA2277810727	GAA	c.341_342delinsAG (p.Lys114=)
17	g.80104928del	CA658798976	GAA	c.342del (p.Lys114AsnfsTer28)	ClinVar dbSNP
17	g.80104928G>A	CA502402240	GAA	c.342G>A (p.Lys114=)
17	g.80104928G>C	CA401360820	GAA	c.342G>C (p.Lys114Asn)
17	g.80104928G>T	CA401360821	GAA	c.342G>T (p.Lys114Asn)	gnomAD v4
17	g.80104929C>A	CA401360823	GAA	c.343C>A (p.Gln115Lys)
17	g.80104929C=	CA2277810728	GAA	c.343C= (p.Gln115=)
17	g.80104929C>G	CA401360825	GAA	c.343C>G (p.Gln115Glu)
17	g.80104929C>T	CA274228	GAA	c.343C>T (p.Gln115Ter)	ClinVar dbSNP
17	g.80104930A>C	CA401360827	GAA	c.344A>C (p.Gln115Pro)
17	g.80104930A>G	CA401360829	GAA	c.344A>G (p.Gln115Arg)
17	g.80104930A>T	CA401360831	GAA	c.344A>T (p.Gln115Leu)
17	g.80104931G>A	CA502402241	GAA	c.345G>A (p.Gln115=)	dbSNP gnomAD v2
17	g.80104931G>C	CA401360833	GAA	c.345G>C (p.Gln115His)
17	g.80104931G=	CA2277810729	GAA	c.345G= (p.Gln115=)
17	g.80104931G>T	CA401360834	GAA	c.345G>T (p.Gln115His)
17	g.80104932G>A	CA401360836	GAA	c.346G>A (p.Gly116Arg)
17	g.80104932G>C	CA401360838	GAA	c.346G>C (p.Gly116Arg)
17	g.80104932G>T	CA401360840	GAA	c.346G>T (p.Gly116Trp)	gnomAD v4
17	g.80104933G>A	CA401360844	GAA	c.347G>A (p.Gly116Glu)	ClinVar dbSNP
17	g.80104933G>C	CA401360842	GAA	c.347G>C (p.Gly116Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104933G=	CA2277810730	GAA	c.347G= (p.Gly116=)
17	g.80104933G>T	CA8814853	GAA	c.347G>T (p.Gly116Val)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17	g.80104934G>A	CA502402242	GAA	c.348G>A (p.Gly116=)
17	g.80104934G>C	CA502402243	GAA	c.348G>C (p.Gly116=)
17	g.80104934G>T	CA502402244	GAA	c.348G>T (p.Gly116=)	ClinVar dbSNP
17	g.80104935C>A	CA401360846	GAA	c.349C>A (p.Leu117Met)
17	g.80104935C>G	CA401360848	GAA	c.349C>G (p.Leu117Val)
17	g.80104935C>T	CA502402245	GAA	c.349C>T (p.Leu117=)
17	g.80104936T>A	CA401360850	GAA	c.350T>A (p.Leu117Gln)
17	g.80104936T>C	CA401360852	GAA	c.350T>C (p.Leu117Pro)
17	g.80104936T>G	CA401360853	GAA	c.350T>G (p.Leu117Arg)
17	g.80104937G>A	CA8814854	GAA	c.351G>A (p.Leu117=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104937G>C	CA502402246	GAA	c.351G>C (p.Leu117=)
17	g.80104937G=	CA2277810731	GAA	c.351G= (p.Leu117=)
17	g.80104937G>T	CA502402247	GAA	c.351G>T (p.Leu117=)
17	g.80104938C>A	CA401360855	GAA	c.352C>A (p.Gln118Lys)
17	g.80104938C=	CA2277810732	GAA	c.352C= (p.Gln118=)
17	g.80104938C>G	CA401360857	GAA	c.352C>G (p.Gln118Glu)
17	g.80104938C>T	CA401360858	GAA	c.352C>T (p.Gln118Ter)	ClinVar dbSNP
17	g.80104939A=	CA2277810733	GAA	c.353A= (p.Gln118=)
17	g.80104939A>C	CA401360860	GAA	c.353A>C (p.Gln118Pro)	dbSNP
17	g.80104939A>G	CA401360861	GAA	c.353A>G (p.Gln118Arg)	dbSNP
17	g.80104939A>T	CA401360863	GAA	c.353A>T (p.Gln118Leu)
17	g.80104940G>A	CA502402248	GAA	c.354G>A (p.Gln118=)	ClinVar dbSNP gnomAD v4
17	g.80104940G>C	CA401360866	GAA	c.354G>C (p.Gln118His)
17	g.80104940G=	CA2277810734	GAA	c.354G= (p.Gln118=)
17	g.80104940G>T	CA401360864	GAA	c.354G>T (p.Gln118His)
17	g.80104941G>A	CA401360869	GAA	c.355G>A (p.Gly119Arg)	ClinVar dbSNP gnomAD v4

Number of alleles fetched