Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.54902505C>A	CA389794120	GCH1	c.159G>T (p.Trp53Cys) n.307G>T	gnomAD v4
14	g.54902505C=	CA2138251545	GCH1	c.159G= (p.Trp53=) n.307G=
14	g.54902505C>G	CA389794122	GCH1	c.159G>C (p.Trp53Cys) n.307G>C
14	g.54902505C>T	CA10603246	GCH1	c.159G>A (p.Trp53Ter) n.307G>A	ClinVar dbSNP gnomAD v4
14	g.54902506del	CA2695219334	GCH1	c.159del (p.Trp53Ter) n.307del
14	g.54902506C>A	CA389794125	GCH1	c.158G>T (p.Trp53Leu) n.306G>T	gnomAD v4
14	g.54902506C>G	CA389794126	GCH1	c.158G>C (p.Trp53Ser) n.306G>C
14	g.54902506C>T	CA389794128	GCH1	c.158G>A (p.Trp53Ter) n.306G>A	ClinVar dbSNP gnomAD v4
14	g.54902507A>C	CA389794130	GCH1	c.157T>G (p.Trp53Gly) n.305T>G
14	g.54902507A>G	CA389794131	GCH1	c.157T>C (p.Trp53Arg) n.305T>C
14	g.54902507A>T	CA389794133	GCH1	c.157T>A (p.Trp53Arg) n.305T>A
14	g.54902508G>A	CA486658902	GCH1	c.156C>T (p.Gly52=) n.304C>T	ClinVar gnomAD v4
14	g.54902508G>C	CA486658903	GCH1	c.156C>G (p.Gly52=) n.304C>G
14	g.54902508G>T	CA486658904	GCH1	c.156C>A (p.Gly52=) n.304C>A
14	g.54902509C>A	CA389794134	GCH1	c.155G>T (p.Gly52Val) n.303G>T	gnomAD v4
14	g.54902509C>G	CA389794135	GCH1	c.155G>C (p.Gly52Ala) n.303G>C
14	g.54902509C>T	CA389794136	GCH1	c.155G>A (p.Gly52Asp) n.303G>A
14	g.54902510C>A	CA389794139	GCH1	c.154G>T (p.Gly52Cys) n.302G>T	dbSNP gnomAD v3 gnomAD v4
14	g.54902510C=	CA2138251546	GCH1	c.154G= (p.Gly52=) n.302G=
14	g.54902510C>G	CA389794140	GCH1	c.154G>C (p.Gly52Arg) n.302G>C	gnomAD v4
14	g.54902510C>T	CA7193671	GCH1	c.154G>A (p.Gly52Ser) n.302G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.54902511G>A	CA7193672	GCH1	c.153C>T (p.Asp51=) n.301C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.54902511G>C	CA389794143	GCH1	c.153C>G (p.Asp51Glu) n.301C>G
14	g.54902511G=	CA2138251547	GCH1	c.153C= (p.Asp51=) n.301C=
14	g.54902511G>T	CA16606999	GCH1	c.153C>A (p.Asp51Glu) n.301C>A	ClinVar dbSNP gnomAD v4
14	g.54902512T>A	CA389794146	GCH1	c.152A>T (p.Asp51Val) n.300A>T
14	g.54902512T>C	CA389794148	GCH1	c.152A>G (p.Asp51Gly) n.300A>G	gnomAD v4
14	g.54902512T>G	CA389794149	GCH1	c.152A>C (p.Asp51Ala) n.300A>C
14	g.54902513C>A	CA7193673	GCH1	c.151G>T (p.Asp51Tyr) n.299G>T	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.54902513C=	CA2138251548	GCH1	c.151G= (p.Asp51=) n.299G=
14	g.54902513C>G	CA389794152	GCH1	c.151G>C (p.Asp51His) n.299G>C
14	g.54902513C>T	CA389794154	GCH1	c.151G>A (p.Asp51Asn) n.299G>A
14	g.54902514C>A	CA486658909	GCH1	c.150G>T (p.Ala50=) n.298G>T	gnomAD v4
14	g.54902514C=	CA2138251549	GCH1	c.150G= (p.Ala50=) n.298G=
14	g.54902514C>G	CA486658910	GCH1	c.150G>C (p.Ala50=) n.298G>C
14	g.54902514C>T	CA260531771	GCH1	c.150G>A (p.Ala50=) n.298G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.54902515del	CA2695219335	GCH1	c.149del (p.Ala50GlyfsTer17) n.297del
14	g.54902515G>A	CA389794156	GCH1	c.149C>T (p.Ala50Val) n.297C>T	gnomAD v4
14	g.54902515G>C	CA389794158	GCH1	c.149C>G (p.Ala50Gly) n.297C>G
14	g.54902515G>T	CA389794160	GCH1	c.149C>A (p.Ala50Glu) n.297C>A	gnomAD v4
14	g.54902516C>A	CA389794161	GCH1	c.148G>T (p.Ala50Ser) n.296G>T
14	g.54902516C>G	CA389794163	GCH1	c.148G>C (p.Ala50Pro) n.296G>C
14	g.54902516C>T	CA389794165	GCH1	c.148G>A (p.Ala50Thr) n.296G>A	gnomAD v4
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=

Number of alleles fetched