Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.10658475_10658479dup	CA2695229551	JAG1	c.685_689dup (p.Arg231ValfsTer?) n.551_555dup
20	g.10658474T>A	CA408239894	JAG1	c.688A>T (p.Asn230Tyr) n.554A>T
20	g.10658474T>C	CA408239895	JAG1	c.688A>G (p.Asn230Asp) n.554A>G
20	g.10658474T>G	CA408239896	JAG1	c.688A>C (p.Asn230His) n.554A>C
20	g.10658475A>C	CA408239897	JAG1	c.687T>G (p.Cys229Trp) n.553T>G
20	g.10658475A>G	CA509816366	JAG1	c.687T>C (p.Cys229=) n.553T>C
20	g.10658475A>T	CA408239898	JAG1	c.687T>A (p.Cys229Ter) n.553T>A
20	g.10658476C>A	CA408239899	JAG1	c.686G>T (p.Cys229Phe) n.552G>T
20	g.10658476C>G	CA408239900	JAG1	c.686G>C (p.Cys229Ser) n.552G>C
20	g.10658476C>T	CA408239901	JAG1	c.686G>A (p.Cys229Tyr) n.552G>A
20	g.10658477A>C	CA408239902	JAG1	c.685T>G (p.Cys229Gly) n.551T>G
20	g.10658477A>G	CA408239903	JAG1	c.685T>C (p.Cys229Arg) n.551T>C
20	g.10658477A>T	CA408239904	JAG1	c.685T>A (p.Cys229Ser) n.551T>A
20	g.10658478T>A	CA408239905	JAG1	c.684A>T (p.Glu228Asp) n.550A>T
20	g.10658478T>C	CA509816367	JAG1	c.684A>G (p.Glu228=) n.550A>G	ClinVar dbSNP
20	g.10658478T>G	CA408239906	JAG1	c.684A>C (p.Glu228Asp) n.550A>C
20	g.10658479T>A	CA408239907	JAG1	c.683A>T (p.Glu228Val) n.549A>T
20	g.10658479T>C	CA408239908	JAG1	c.683A>G (p.Glu228Gly) n.549A>G
20	g.10658479T>G	CA408239909	JAG1	c.683A>C (p.Glu228Ala) n.549A>C
20	g.10658480C>A	CA408239911	JAG1	c.682G>T (p.Glu228Ter) n.548G>T	ClinVar dbSNP
20	g.10658480C=	CA2349888384	JAG1	c.682G= (p.Glu228=) n.548G=
20	g.10658480C>G	CA408239912	JAG1	c.682G>C (p.Glu228Gln) n.548G>C
20	g.10658480C>T	CA408239910	JAG1	c.682G>A (p.Glu228Lys) n.548G>A	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
20	g.10658481G>A	CA9765104	JAG1	c.681C>T (p.Pro227=) n.547C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.10658481G>C	CA509816369	JAG1	c.681C>G (p.Pro227=) n.547C>G
20	g.10658481G=	CA2349888385	JAG1	c.681C= (p.Pro227=) n.547C=
20	g.10658481G>T	CA509816370	JAG1	c.681C>A (p.Pro227=) n.547C>A
20	g.10658482G>A	CA408239913	JAG1	c.680C>T (p.Pro227Leu) n.546C>T
20	g.10658482G>C	CA408239914	JAG1	c.680C>G (p.Pro227Arg) n.546C>G
20	g.10658482G>T	CA408239915	JAG1	c.680C>A (p.Pro227His) n.546C>A
20	g.10658483G>A	CA408239918	JAG1	c.679C>T (p.Pro227Ser) n.545C>T	dbSNP
20	g.10658483G>C	CA408239917	JAG1	c.679C>G (p.Pro227Ala) n.545C>G
20	g.10658483G=	CA2349888386	JAG1	c.679C= (p.Pro227=) n.545C=
20	g.10658483G>T	CA408239916	JAG1	c.679C>A (p.Pro227Thr) n.545C>A
20	g.10658484G>A	CA509816371	JAG1	c.678C>T (p.Gly226=) n.544C>T
20	g.10658484G>C	CA509816372	JAG1	c.678C>G (p.Gly226=) n.544C>G
20	g.10658484G>T	CA509816373	JAG1	c.678C>A (p.Gly226=) n.544C>A
20	g.10658485C>A	CA408239919	JAG1	c.677G>T (p.Gly226Val) n.543G>T	gnomAD v4
20	g.10658485C>G	CA408239920	JAG1	c.677G>C (p.Gly226Ala) n.543G>C
20	g.10658485C>T	CA408239921	JAG1	c.677G>A (p.Gly226Asp) n.543G>A	ClinVar gnomAD v4
20	g.10658487dup	CA2573156864	JAG1	c.677dup (p.Glu228ArgfsTer3) n.543dup	ClinVar dbSNP
20	g.10658486C>A	CA408239922	JAG1	c.676G>T (p.Gly226Cys) n.542G>T
20	g.10658486C>G	CA408239923	JAG1	c.676G>C (p.Gly226Arg) n.542G>C
20	g.10658486C>T	CA408239924	JAG1	c.676G>A (p.Gly226Ser) n.542G>A
20	g.10658487C>A	CA408239925	JAG1	c.675G>T (p.Met225Ile) n.541G>T
20	g.10658487C>G	CA408239927	JAG1	c.675G>C (p.Met225Ile) n.541G>C	gnomAD v4
20	g.10658487C>T	CA408239926	JAG1	c.675G>A (p.Met225Ile) n.541G>A
20	g.10658488A>C	CA408239928	JAG1	c.674T>G (p.Met225Arg) n.540T>G
20	g.10658488A>G	CA408239929	JAG1	c.674T>C (p.Met225Thr) n.540T>C
20	g.10658488A>T	CA408239930	JAG1	c.674T>A (p.Met225Lys) n.540T>A

Number of alleles fetched