Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.48728349T>A	CA400107849	HOXB13	c.245A>T (p.Tyr82Phe)
17	g.48728349T>C	CA400107850	HOXB13	c.245A>G (p.Tyr82Cys)
17	g.48728349T>G	CA400107851	HOXB13	c.245A>C (p.Tyr82Ser)	ClinVar dbSNP gnomAD v4
17	g.48728349T=	CA2263242617	HOXB13	c.245A= (p.Tyr82=)
17	g.48728350A=	CA2263242619	HOXB13	c.244T= (p.Tyr82=)
17	g.48728350A>C	CA400107852	HOXB13	c.244T>G (p.Tyr82Asp)	ClinVar dbSNP
17	g.48728350A>G	CA400107853	HOXB13	c.244T>C (p.Tyr82His)	gnomAD v4
17	g.48728350A>T	CA400107854	HOXB13	c.244T>A (p.Tyr82Asn)	ClinVar dbSNP
17	g.48728351dup	CA2263242618	HOXB13	c.244dup (p.Tyr82LeufsTer?)	ClinVar dbSNP
17	g.48728351A>C	CA500661993	HOXB13	c.243T>G (p.Gly81=)
17	g.48728351A>G	CA500661994	HOXB13	c.243T>C (p.Gly81=)	ClinVar dbSNP
17	g.48728351A>T	CA500661995	HOXB13	c.243T>A (p.Gly81=)
17	g.48728352C>A	CA400107855	HOXB13	c.242G>T (p.Gly81Val)	ClinVar dbSNP
17	g.48728352C=	CA2263242620	HOXB13	c.242G= (p.Gly81=)
17	g.48728352C>G	CA400107856	HOXB13	c.242G>C (p.Gly81Ala)
17	g.48728352C>T	CA400107857	HOXB13	c.242G>A (p.Gly81Asp)	ClinVar dbSNP
17	g.48728353del	CA2733710640	HOXB13	c.242del (p.Gly81ValfsTer17)	dbSNP
17	g.48728353C>A	CA400107858	HOXB13	c.241G>T (p.Gly81Cys)	ClinVar dbSNP
17	g.48728353C=	CA2263242621	HOXB13	c.241G= (p.Gly81=)
17	g.48728353C>G	CA400107859	HOXB13	c.241G>C (p.Gly81Arg)
17	g.48728353C>T	CA400107860	HOXB13	c.241G>A (p.Gly81Ser)
17	g.48728354A=	CA2263242622	HOXB13	c.240T= (p.Tyr80=)
17	g.48728354A>C	CA400107862	HOXB13	c.240T>G (p.Tyr80Ter)
17	g.48728354A>G	CA500661996	HOXB13	c.240T>C (p.Tyr80=)	ClinVar dbSNP
17	g.48728354A>T	CA400107861	HOXB13	c.240T>A (p.Tyr80Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.48728355T>A	CA400107863	HOXB13	c.239A>T (p.Tyr80Phe)	ClinVar dbSNP
17	g.48728355T>C	CA8634034	HOXB13	c.239A>G (p.Tyr80Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.48728355T>G	CA400107864	HOXB13	c.239A>C (p.Tyr80Ser)	ClinVar
17	g.48728355T=	CA2263242623	HOXB13	c.239A= (p.Tyr80=)
17	g.48728356A=	CA2263242624	HOXB13	c.238T= (p.Tyr80=)
17	g.48728356A>C	CA400107865	HOXB13	c.238T>G (p.Tyr80Asp)
17	g.48728356A>G	CA400107866	HOXB13	c.238T>C (p.Tyr80His)
17	g.48728356A>T	CA400107867	HOXB13	c.238T>A (p.Tyr80Asn)	ClinVar dbSNP
17	g.48728357A>C	CA500661997	HOXB13	c.237T>G (p.Pro79=)
17	g.48728357A>G	CA500661998	HOXB13	c.237T>C (p.Pro79=)	ClinVar dbSNP
17	g.48728357A>T	CA500661999	HOXB13	c.237T>A (p.Pro79=)
17	g.48728357_48728358delinsAG	CA2263242625	HOXB13	c.236_237delinsCT (p.Pro79=)
17	g.48728358G>A	CA291350728	HOXB13	c.236C>T (p.Pro79Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.48728358G>C	CA400107868	HOXB13	c.236C>G (p.Pro79Arg)
17	g.48728358G=	CA2263242626	HOXB13	c.236C= (p.Pro79=)
17	g.48728358G>T	CA400107869	HOXB13	c.236C>A (p.Pro79His)	ClinVar dbSNP
17	g.48728359dup	CA915950444	HOXB13	c.236dup (p.Tyr80LeufsTer?)	ClinVar dbSNP
17	g.48728359del	CA915950443	HOXB13	c.236del (p.Pro79LeufsTer19)	ClinVar dbSNP
17	g.48728359G>A	CA400107870	HOXB13	c.235C>T (p.Pro79Ser)
17	g.48728359G>C	CA400107871	HOXB13	c.235C>G (p.Pro79Ala)
17	g.48728359G>T	CA400107872	HOXB13	c.235C>A (p.Pro79Thr)
17	g.48728359_48728360delinsGC	CA2263242627	HOXB13	c.234_235delinsGC (p.Val78=)
17	g.48728360del	CA915950445	HOXB13	c.234del (p.Pro79LeufsTer19)	ClinVar dbSNP
17	g.48728360C>A	CA500662000	HOXB13	c.234G>T (p.Val78=)	ClinVar dbSNP
17	g.48728360C=	CA2263242628	HOXB13	c.234G= (p.Val78=)

Number of alleles fetched