Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.54902482T>A	CA389794038	GCH1	c.182A>T (p.Glu61Val) n.330A>T
14	g.54902482T>C	CA389794040	GCH1	c.182A>G (p.Glu61Gly) n.330A>G
14	g.54902482T>G	CA389794041	GCH1	c.182A>C (p.Glu61Ala) n.330A>C
14	g.54902482_54902493delinsTCGCTGCGGGGC	CA2138251532	GCH1	c.171_182delinsGCCCCGCAGCGA (p.Arg57=) n.319_330delinsGCCCCGCAGCGA
14	g.54902483C>A	CA389794046	GCH1	c.181G>T (p.Glu61Ter) n.329G>T
14	g.54902483C>G	CA389794045	GCH1	c.181G>C (p.Glu61Gln) n.329G>C	gnomAD v4
14	g.54902483C>T	CA389794043	GCH1	c.181G>A (p.Glu61Lys) n.329G>A
14	g.54902487_54902497del	CA2138251533	GCH1	c.171_181del (p.Pro58GlyfsTer3) n.319_329del	dbSNP
14	g.54902484G>A	CA260531760	GCH1	c.180C>T (p.Ser60=) n.328C>T	dbSNP gnomAD v2 gnomAD v4
14	g.54902484G>C	CA389794049	GCH1	c.180C>G (p.Ser60Arg) n.328C>G
14	g.54902484G=	CA2138251534	GCH1	c.180C= (p.Ser60=) n.328C=
14	g.54902484G>T	CA389794051	GCH1	c.180C>A (p.Ser60Arg) n.328C>A	gnomAD v4
14	g.54902485C>A	CA389794052	GCH1	c.179G>T (p.Ser60Ile) n.327G>T
14	g.54902485C=	CA2138251535	GCH1	c.179G= (p.Ser60=) n.327G=
14	g.54902485C>G	CA7193667	GCH1	c.179G>C (p.Ser60Thr) n.327G>C	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.54902485C>T	CA389794055	GCH1	c.179G>A (p.Ser60Asn) n.327G>A
14	g.54902486T>A	CA389794057	GCH1	c.178A>T (p.Ser60Cys) n.326A>T
14	g.54902486T>C	CA389794058	GCH1	c.178A>G (p.Ser60Gly) n.326A>G	dbSNP gnomAD v4
14	g.54902486T>G	CA389794060	GCH1	c.178A>C (p.Ser60Arg) n.326A>C	dbSNP
14	g.54902486T=	CA2138251536	GCH1	c.178A= (p.Ser60=) n.326A=
14	g.54902487G>A	CA7193668	GCH1	c.177C>T (p.Arg59=) n.325C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.54902487G>C	CA486658861	GCH1	c.177C>G (p.Arg59=) n.325C>G
14	g.54902487G=	CA2138251537	GCH1	c.177C= (p.Arg59=) n.325C=
14	g.54902487G>T	CA486658863	GCH1	c.177C>A (p.Arg59=) n.325C>A
14	g.54902488C>A	CA389794063	GCH1	c.176G>T (p.Arg59Leu) n.324G>T	gnomAD v4
14	g.54902488C>G	CA389794064	GCH1	c.176G>C (p.Arg59Pro) n.324G>C
14	g.54902488C>T	CA389794066	GCH1	c.176G>A (p.Arg59His) n.324G>A	gnomAD v4
14	g.54902489G>A	CA389794070	GCH1	c.175C>T (p.Arg59Cys) n.323C>T	dbSNP gnomAD v3 gnomAD v4
14	g.54902489G>C	CA7193669	GCH1	c.175C>G (p.Arg59Gly) n.323C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.54902489G=	CA2138251538	GCH1	c.175C= (p.Arg59=) n.323C=
14	g.54902489G>T	CA389794068	GCH1	c.175C>A (p.Arg59Ser) n.323C>A	gnomAD v4
14	g.54902492dup	CA2695219333	GCH1	c.175dup (p.Arg59ProfsTer6) n.323dup
14	g.54902492del	CA2624945418	GCH1	c.175del (p.Arg59AlafsTer8) n.323del	gnomAD v4
14	g.54902490G>A	CA486658866	GCH1	c.174C>T (p.Pro58=) n.322C>T	ClinVar
14	g.54902490G>C	CA486658868	GCH1	c.174C>G (p.Pro58=) n.322C>G
14	g.54902490G>T	CA486658870	GCH1	c.174C>A (p.Pro58=) n.322C>A
14	g.54902491G>A	CA389794074	GCH1	c.173C>T (p.Pro58Leu) n.321C>T	dbSNP gnomAD v2 gnomAD v4
14	g.54902491G>C	CA389794072	GCH1	c.173C>G (p.Pro58Arg) n.321C>G
14	g.54902491G=	CA2138251539	GCH1	c.173C= (p.Pro58=) n.321C=
14	g.54902491G>T	CA389794073	GCH1	c.173C>A (p.Pro58His) n.321C>A
14	g.54902492G>A	CA389794075	GCH1	c.172C>T (p.Pro58Ser) n.320C>T	ClinVar dbSNP gnomAD v4
14	g.54902492G>C	CA389794076	GCH1	c.172C>G (p.Pro58Ala) n.320C>G
14	g.54902492G=	CA2138251540	GCH1	c.172C= (p.Pro58=) n.320C=
14	g.54902492G>T	CA389794077	GCH1	c.172C>A (p.Pro58Thr) n.320C>A
14	g.54902493C>A	CA486658873	GCH1	c.171G>T (p.Arg57=) n.319G>T
14	g.54902493C>G	CA486658875	GCH1	c.171G>C (p.Arg57=) n.319G>C
14	g.54902493C>T	CA486658877	GCH1	c.171G>A (p.Arg57=) n.319G>A
14	g.54902494C>A	CA389794079	GCH1	c.170G>T (p.Arg57Leu) n.318G>T
14	g.54902494C=	CA2138251541	GCH1	c.170G= (p.Arg57=) n.318G=
14	g.54902494C>G	CA389794081	GCH1	c.170G>C (p.Arg57Pro) n.318G>C

Number of alleles fetched