Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8015790C>A	CA397955258	GUCY2D	c.2992C>A (p.Leu998Met)
17	g.8015790C>G	CA397955260	GUCY2D	c.2992C>G (p.Leu998Val)
17	g.8015790C>T	CA497753857	GUCY2D	c.2992C>T (p.Leu998=)	ClinVar gnomAD v4
17	g.8015791T>A	CA397955262	GUCY2D	c.2993T>A (p.Leu998Gln)
17	g.8015791T>C	CA397955264	GUCY2D	c.2993T>C (p.Leu998Pro)
17	g.8015791T>G	CA397955266	GUCY2D	c.2993T>G (p.Leu998Arg)
17	g.8015792G>A	CA287534102	GUCY2D	c.2994G>A (p.Leu998=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015792G>C	CA287534101	GUCY2D	c.2994G>C (p.Leu998=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8015792G=	CA2246121021	GUCY2D	c.2994G= (p.Leu998=)
17	g.8015792G>T	CA497753859	GUCY2D	c.2994G>T (p.Leu998=)
17	g.8015792_8015793delinsGT	CA2246121022	GUCY2D	c.2994_2995delinsGT (p.Leu998=)
17	g.8015793T>A	CA397955270	GUCY2D	c.2995T>A (p.Phe999Ile)
17	g.8015793T>C	CA397955271	GUCY2D	c.2995T>C (p.Phe999Leu)	gnomAD v4
17	g.8015793T>G	CA397955273	GUCY2D	c.2995T>G (p.Phe999Val)
17	g.8015795del	CA1139664116	GUCY2D	c.2997del (p.Phe999LeufsTer22)	ClinVar dbSNP
17	g.8015794T>A	CA8366276	GUCY2D	c.2996T>A (p.Phe999Tyr)	dbSNP ExAC gnomAD v3 gnomAD v4
17	g.8015794T>C	CA397955276	GUCY2D	c.2996T>C (p.Phe999Ser)	gnomAD v4
17	g.8015794T>G	CA397955278	GUCY2D	c.2996T>G (p.Phe999Cys)
17	g.8015794T=	CA2246121031	GUCY2D	c.2996T= (p.Phe999=)
17	g.8015795T>A	CA397955280	GUCY2D	c.2997T>A (p.Phe999Leu)
17	g.8015795T>C	CA497753861	GUCY2D	c.2997T>C (p.Phe999=)
17	g.8015795T>G	CA397955282	GUCY2D	c.2997T>G (p.Phe999Leu)
17	g.8015796G>A	CA397955287	GUCY2D	c.2998G>A (p.Gly1000Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.8015796G>C	CA397955284	GUCY2D	c.2998G>C (p.Gly1000Arg)
17	g.8015796G=	CA2246121033	GUCY2D	c.2998G= (p.Gly1000=)
17	g.8015796G>T	CA397955286	GUCY2D	c.2998G>T (p.Gly1000Trp)
17	g.8015797G>A	CA397955289	GUCY2D	c.2999G>A (p.Gly1000Glu)	ClinVar dbSNP gnomAD v4
17	g.8015797G>C	CA397955291	GUCY2D	c.2999G>C (p.Gly1000Ala)
17	g.8015797G=	CA2246121038	GUCY2D	c.2999G= (p.Gly1000=)
17	g.8015797G>T	CA397955293	GUCY2D	c.2999G>T (p.Gly1000Val)
17	g.8015798G>A	CA497753863	GUCY2D	c.3000G>A (p.Gly1000=)	dbSNP gnomAD v2 gnomAD v4
17	g.8015798G>C	CA497753864	GUCY2D	c.3000G>C (p.Gly1000=)
17	g.8015798G=	CA2246121045	GUCY2D	c.3000G= (p.Gly1000=)
17	g.8015798G>T	CA497753862	GUCY2D	c.3000G>T (p.Gly1000=)	gnomAD v4
17	g.8015799G>A	CA397955294	GUCY2D	c.3001G>A (p.Asp1001Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.8015799G>C	CA397955296	GUCY2D	c.3001G>C (p.Asp1001His)	gnomAD v4
17	g.8015799G=	CA2246121052	GUCY2D	c.3001G= (p.Asp1001=)
17	g.8015799G>T	CA397955298	GUCY2D	c.3001G>T (p.Asp1001Tyr)
17	g.8015800A>C	CA397955300	GUCY2D	c.3002A>C (p.Asp1001Ala)
17	g.8015800A>G	CA397955302	GUCY2D	c.3002A>G (p.Asp1001Gly)
17	g.8015800A>T	CA397955304	GUCY2D	c.3002A>T (p.Asp1001Val)
17	g.8015801C>A	CA397955306	GUCY2D	c.3003C>A (p.Asp1001Glu)
17	g.8015801C>G	CA397955308	GUCY2D	c.3003C>G (p.Asp1001Glu)
17	g.8015801C>T	CA497753866	GUCY2D	c.3003C>T (p.Asp1001=)	gnomAD v4
17	g.8015802A>C	CA397955312	GUCY2D	c.3004A>C (p.Thr1002Pro)	ClinVar
17	g.8015802A>G	CA397955314	GUCY2D	c.3004A>G (p.Thr1002Ala)
17	g.8015802A>T	CA397955310	GUCY2D	c.3004A>T (p.Thr1002Ser)
17	g.8015803C>A	CA397955320	GUCY2D	c.3005C>A (p.Thr1002Lys)
17	g.8015803C=	CA2246121054	GUCY2D	c.3005C= (p.Thr1002=)
17	g.8015803C>G	CA397955316	GUCY2D	c.3005C>G (p.Thr1002Arg)	gnomAD v4

Number of alleles fetched