Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80105032C>A	CA401361436	GAA	c.446C>A (p.Thr149Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105032C=	CA2277810787	GAA	c.446C= (p.Thr149=)
17	g.80105032C>G	CA401361432	GAA	c.446C>G (p.Thr149Arg)
17	g.80105032C>T	CA8814873	GAA	c.446C>T (p.Thr149Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105032dup	CA913014083	GAA	c.446dup (p.Ala150GlyfsTer27)
17	g.80105033G>A	CA152919	GAA	c.447G>A (p.Thr149=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105033G>C	CA502402324	GAA	c.447G>C (p.Thr149=)
17	g.80105033G=	CA2277810788	GAA	c.447G= (p.Thr149=)
17	g.80105033G>T	CA502402326	GAA	c.447G>T (p.Thr149=)
17	g.80105034dup	CA658824776	GAA	c.448dup (p.Ala150GlyfsTer27)	ClinVar dbSNP
17	g.80105034G>A	CA294887248	GAA	c.448G>A (p.Ala150Thr)	ClinVar dbSNP gnomAD v4
17	g.80105034G>C	CA401361445	GAA	c.448G>C (p.Ala150Pro)
17	g.80105034G=	CA2277810789	GAA	c.448G= (p.Ala150=)
17	g.80105034G>T	CA401361448	GAA	c.448G>T (p.Ala150Ser)
17	g.80105035C>A	CA401361452	GAA	c.449C>A (p.Ala150Asp)
17	g.80105035C=	CA2277810790	GAA	c.449C= (p.Ala150=)
17	g.80105035C>G	CA294887253	GAA	c.449C>G (p.Ala150Gly)	dbSNP
17	g.80105035C>T	CA401361459	GAA	c.449C>T (p.Ala150Val)	gnomAD v4
17	g.80105036C>A	CA502402330	GAA	c.450C>A (p.Ala150=)
17	g.80105036C=	CA2277810791	GAA	c.450C= (p.Ala150=)
17	g.80105036C>G	CA8814874	GAA	c.450C>G (p.Ala150=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105036C>T	CA502402333	GAA	c.450C>T (p.Ala150=)	gnomAD v4
17	g.80105037A=	CA2277810792	GAA	c.451A= (p.Thr151=)
17	g.80105037A>C	CA401361465	GAA	c.451A>C (p.Thr151Pro)
17	g.80105037A>G	CA401361468	GAA	c.451A>G (p.Thr151Ala)	dbSNP gnomAD v4
17	g.80105037A>T	CA401361469	GAA	c.451A>T (p.Thr151Ser)	dbSNP
17	g.80105038C>A	CA401361474	GAA	c.452C>A (p.Thr151Asn)
17	g.80105038C=	CA2277810793	GAA	c.452C= (p.Thr151=)
17	g.80105038C>G	CA401361470	GAA	c.452C>G (p.Thr151Ser)
17	g.80105038C>T	CA401361472	GAA	c.452C>T (p.Thr151Ile)	ClinVar dbSNP gnomAD v4
17	g.80105040dup	CA294887290	GAA	c.454dup (p.Leu152ProfsTer25)	dbSNP
17	g.80105039C>A	CA502402336	GAA	c.453C>A (p.Thr151=)
17	g.80105039C=	CA2277810794	GAA	c.453C= (p.Thr151=)
17	g.80105039C>G	CA502402334	GAA	c.453C>G (p.Thr151=)
17	g.80105039C>T	CA502402335	GAA	c.453C>T (p.Thr151=)	dbSNP gnomAD v2
17	g.80105040C>A	CA401361476	GAA	c.454C>A (p.Leu152Met)
17	g.80105040C>G	CA401361478	GAA	c.454C>G (p.Leu152Val)	ClinVar dbSNP gnomAD v4
17	g.80105040C>T	CA502402337	GAA	c.454C>T (p.Leu152=)
17	g.80105041T>A	CA401361481	GAA	c.455T>A (p.Leu152Gln)
17	g.80105041T>C	CA401361484	GAA	c.455T>C (p.Leu152Pro)	gnomAD v4
17	g.80105041T>G	CA401361487	GAA	c.455T>G (p.Leu152Arg)
17	g.80105042_80105048del	CA913014084	GAA	c.456_462del (p.Thr153ProfsTer11)
17	g.80105042G>A	CA502402339	GAA	c.456G>A (p.Leu152=)
17	g.80105042G>C	CA502402341	GAA	c.456G>C (p.Leu152=)	ClinVar dbSNP
17	g.80105042G=	CA2277810795	GAA	c.456G= (p.Leu152=)
17	g.80105042G>T	CA502402343	GAA	c.456G>T (p.Leu152=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105042_80105043dup	CA2573154927	GAA	c.456_457dup (p.Thr153ArgfsTer14)	ClinVar dbSNP
17	g.80105042_80105048delinsGACCCGT	CA2277810796	GAA	c.456_462delinsGACCCGT (p.Leu152=)
17	g.80105042_80105051delinsGACCCGTACC	CA2277810797	GAA	c.456_465delinsGACCCGTACC (p.Leu152=)

Number of alleles fetched