Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.54902517G>A	CA486658914	GCH1	c.147C>T (p.Pro49=) n.295C>T	gnomAD v4
14	g.54902517G>C	CA7193674	GCH1	c.147C>G (p.Pro49=) n.295C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.54902517G=	CA2138251550	GCH1	c.147C= (p.Pro49=) n.295C=
14	g.54902517G>T	CA486658915	GCH1	c.147C>A (p.Pro49=) n.295C>A	gnomAD v4
14	g.54902518G>A	CA389794170	GCH1	c.146C>T (p.Pro49Leu) n.294C>T	dbSNP gnomAD v2
14	g.54902518G>C	CA389794167	GCH1	c.146C>G (p.Pro49Arg) n.294C>G
14	g.54902518G=	CA2138251551	GCH1	c.146C= (p.Pro49=) n.294C=
14	g.54902518G>T	CA389794168	GCH1	c.146C>A (p.Pro49His) n.294C>A
14	g.54902519G>A	CA7193675	GCH1	c.145C>T (p.Pro49Ser) n.293C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.54902519G>C	CA7193676	GCH1	c.145C>G (p.Pro49Ala) n.293C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.54902519G=	CA2138251552	GCH1	c.145C= (p.Pro49=) n.293C=
14	g.54902519G>T	CA389794172	GCH1	c.145C>A (p.Pro49Thr) n.293C>A	gnomAD v4
14	g.54902520C>A	CA389794174	GCH1	c.144G>T (p.Gln48His) n.292G>T	gnomAD v4
14	g.54902520C>G	CA389794176	GCH1	c.144G>C (p.Gln48His) n.292G>C
14	g.54902520C>T	CA486658917	GCH1	c.144G>A (p.Gln48=) n.292G>A
14	g.54902521T>A	CA389794178	GCH1	c.143A>T (p.Gln48Leu) n.291A>T
14	g.54902521T>C	CA389794179	GCH1	c.143A>G (p.Gln48Arg) n.291A>G	gnomAD v4
14	g.54902521T>G	CA389794181	GCH1	c.143A>C (p.Gln48Pro) n.291A>C
14	g.54902522G>A	CA254727	GCH1	c.142C>T (p.Gln48Ter) n.290C>T	ClinVar dbSNP gnomAD v4
14	g.54902522G>C	CA389794183	GCH1	c.142C>G (p.Gln48Glu) n.290C>G
14	g.54902522G=	CA2138251553	GCH1	c.142C= (p.Gln48=) n.290C=
14	g.54902522G>T	CA389794184	GCH1	c.142C>A (p.Gln48Lys) n.290C>A	dbSNP
14	g.54902526_54902527del	CA2695219336	GCH1	c.141_142del (p.Gln48AlafsTer16) n.289_290del
14	g.54902523C>A	CA486658922	GCH1	c.141G>T (p.Ala47=) n.289G>T	ClinVar gnomAD v4
14	g.54902523C=	CA2138251554	GCH1	c.141G= (p.Ala47=) n.289G=
14	g.54902523C>G	CA486658923	GCH1	c.141G>C (p.Ala47=) n.289G>C
14	g.54902523C>T	CA486658924	GCH1	c.141G>A (p.Ala47=) n.289G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.54902524G>A	CA389794190	GCH1	c.140C>T (p.Ala47Val) n.288C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.54902524G>C	CA389794186	GCH1	c.140C>G (p.Ala47Gly) n.288C>G
14	g.54902524G=	CA2138251555	GCH1	c.140C= (p.Ala47=) n.288C=
14	g.54902524G>T	CA389794188	GCH1	c.140C>A (p.Ala47Glu) n.288C>A	ClinVar dbSNP gnomAD v4
14	g.54902525C>A	CA389794191	GCH1	c.139G>T (p.Ala47Ser) n.287G>T
14	g.54902525C>G	CA389794192	GCH1	c.139G>C (p.Ala47Pro) n.287G>C
14	g.54902525C>T	CA389794194	GCH1	c.139G>A (p.Ala47Thr) n.287G>A	gnomAD v4
14	g.54902526G>A	CA486658930	GCH1	c.138C>T (p.Ser46=) n.286C>T	dbSNP gnomAD v2 gnomAD v4
14	g.54902526G>C	CA389794196	GCH1	c.138C>G (p.Ser46Arg) n.286C>G
14	g.54902526G=	CA2138251556	GCH1	c.138C= (p.Ser46=) n.286C=
14	g.54902526G>T	CA389794197	GCH1	c.138C>A (p.Ser46Arg) n.286C>A	ClinVar gnomAD v4
14	g.54902527C>A	CA389794199	GCH1	c.137G>T (p.Ser46Ile) n.285G>T	gnomAD v4
14	g.54902527C>G	CA389794200	GCH1	c.137G>C (p.Ser46Thr) n.285G>C
14	g.54902527C>T	CA389794201	GCH1	c.137G>A (p.Ser46Asn) n.285G>A	ClinVar gnomAD v4
14	g.54902528del	CA2695219337	GCH1	c.136del (p.Ser46AlafsTer21) n.284del
14	g.54902528T>A	CA389794202	GCH1	c.136A>T (p.Ser46Cys) n.284A>T
14	g.54902528T>C	CA7193677	GCH1	c.136A>G (p.Ser46Gly) n.284A>G	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.54902528T>G	CA389794204	GCH1	c.136A>C (p.Ser46Arg) n.284A>C
14	g.54902528T=	CA2138251557	GCH1	c.136A= (p.Ser46=) n.284A=
14	g.54902529C>A	CA389794207	GCH1	c.135G>T (p.Lys45Asn) n.283G>T
14	g.54902529C=	CA2138251558	GCH1	c.135G= (p.Lys45=) n.283G=
14	g.54902529C>G	CA389794208	GCH1	c.135G>C (p.Lys45Asn) n.283G>C
14	g.54902529C>T	CA486658934	GCH1	c.135G>A (p.Lys45=) n.283G>A	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched