Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42903947C>A	CA399653149	G6PC1	c.247C>A (p.Arg83Ser) n.312C>A	ClinVar
17	g.42903947C=	CA2260694232	G6PC1	c.247C= (p.Arg83=) n.312C=
17	g.42903947C>G	CA399653147	G6PC1	c.247C>G (p.Arg83Gly) n.312C>G	gnomAD v4
17	g.42903947C>T	CA256177	G6PC1	c.247C>T (p.Arg83Cys) n.312C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42903948G>A	CA341566	G6PC1	c.248G>A (p.Arg83His) n.313G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42903948G>C	CA399653155	G6PC1	c.248G>C (p.Arg83Pro) n.313G>C
17	g.42903948G=	CA2260694233	G6PC1	c.248G= (p.Arg83=) n.313G=
17	g.42903948G>T	CA399653153	G6PC1	c.248G>T (p.Arg83Leu) n.313G>T
17	g.42903949T>A	CA500102247	G6PC1	c.249T>A (p.Arg83=) n.314T>A
17	g.42903949T>C	CA8587527	G6PC1	c.249T>C (p.Arg83=) n.314T>C	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42903949T>G	CA500102251	G6PC1	c.249T>G (p.Arg83=) n.314T>G
17	g.42903949T=	CA2260694234	G6PC1	c.249T= (p.Arg83=) n.314T=
17	g.42903950_42903953dup	CA2638039976	G6PC1	c.250_253dup (p.Tyr85SerfsTer9) n.315_318dup	gnomAD v4
17	g.42903950C>A	CA399653158	G6PC1	c.250C>A (p.Pro84Thr) n.315C>A
17	g.42903950C>G	CA399653159	G6PC1	c.250C>G (p.Pro84Ala) n.315C>G
17	g.42903950C>T	CA399653161	G6PC1	c.250C>T (p.Pro84Ser) n.315C>T	ClinVar gnomAD v4 COSMIC
17	g.42903951C>A	CA399653164	G6PC1	c.251C>A (p.Pro84Gln) n.316C>A
17	g.42903951C>G	CA399653166	G6PC1	c.251C>G (p.Pro84Arg) n.316C>G
17	g.42903951C>T	CA399653169	G6PC1	c.251C>T (p.Pro84Leu) n.316C>T
17	g.42903952A=	CA2260694235	G6PC1	c.252A= (p.Pro84=) n.317A=
17	g.42903952A>C	CA500102263	G6PC1	c.252A>C (p.Pro84=) n.317A>C
17	g.42903952A>G	CA290785332	G6PC1	c.252A>G (p.Pro84=) n.317A>G	ClinVar dbSNP gnomAD v4
17	g.42903952A>T	CA500102266	G6PC1	c.252A>T (p.Pro84=) n.317A>T
17	g.42903953T>A	CA399653174	G6PC1	c.253T>A (p.Tyr85Asn) n.318T>A
17	g.42903953T>C	CA399653175	G6PC1	c.253T>C (p.Tyr85His) n.318T>C
17	g.42903953T>G	CA399653177	G6PC1	c.253T>G (p.Tyr85Asp) n.318T>G
17	g.42903954A=	CA2260694236	G6PC1	c.254A= (p.Tyr85=) n.319A=
17	g.42903954A>C	CA399653183	G6PC1	c.254A>C (p.Tyr85Ser) n.319A>C
17	g.42903954A>G	CA290785335	G6PC1	c.254A>G (p.Tyr85Cys) n.319A>G	dbSNP gnomAD v3 gnomAD v4
17	g.42903954A>T	CA399653180	G6PC1	c.254A>T (p.Tyr85Phe) n.319A>T
17	g.42903955C>A	CA399653186	G6PC1	c.255C>A (p.Tyr85Ter) n.320C>A	ClinVar dbSNP
17	g.42903955C=	CA2260694237	G6PC1	c.255C= (p.Tyr85=) n.320C=
17	g.42903955C>G	CA399653189	G6PC1	c.255C>G (p.Tyr85Ter) n.320C>G
17	g.42903955C>T	CA8587528	G6PC1	c.255C>T (p.Tyr85=) n.320C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42903956T>A	CA399653193	G6PC1	c.256T>A (p.Trp86Arg) n.321T>A
17	g.42903956T>C	CA399653194	G6PC1	c.256T>C (p.Trp86Arg) n.321T>C	ClinVar dbSNP
17	g.42903956T>G	CA399653197	G6PC1	c.256T>G (p.Trp86Gly) n.321T>G
17	g.42903956T=	CA2260694238	G6PC1	c.256T= (p.Trp86=) n.321T=
17	g.42903957G>A	CA399653200	G6PC1	c.257G>A (p.Trp86Ter) n.322G>A
17	g.42903957G>C	CA399653201	G6PC1	c.257G>C (p.Trp86Ser) n.322G>C
17	g.42903957G>T	CA399653202	G6PC1	c.257G>T (p.Trp86Leu) n.322G>T	gnomAD v4 COSMIC
17	g.42903958del	CA2576280990	G6PC1	c.258del (p.Trp86CysfsTer16) n.323del
17	g.42903958G>A	CA290785345	G6PC1	c.258G>A (p.Trp86Ter) n.323G>A	ClinVar dbSNP gnomAD v4
17	g.42903958G>C	CA399653203	G6PC1	c.258G>C (p.Trp86Cys) n.323G>C
17	g.42903958G=	CA2260694239	G6PC1	c.258G= (p.Trp86=) n.323G=
17	g.42903958G>T	CA399653204	G6PC1	c.258G>T (p.Trp86Cys) n.323G>T
17	g.42903959T>A	CA399653212	G6PC1	c.259T>A (p.Trp87Arg) n.324T>A
17	g.42903959T>C	CA399653208	G6PC1	c.259T>C (p.Trp87Arg) n.324T>C
17	g.42903959T>G	CA399653207	G6PC1	c.259T>G (p.Trp87Gly) n.324T>G
17	g.42903959_42903960delinsTG	CA2260694240	G6PC1	c.259_260delinsTG (p.Trp87=) n.324_325delinsTG

Number of alleles fetched