Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.48728231_48728259del	CA2576309605	HOXB13	c.337_365del (p.Thr113ProfsTer4)
17	g.48728234_48728255delinsGTACTCTTCCCCGGCCGTGGGA	CA2263242520	HOXB13	c.339_360delinsTCCCACGGCCGGGGAAGAGTAC (p.Thr113=)
17	g.48728235_48728255del	CA984335350	HOXB13	c.339_359del (p.Pro114_Tyr120del)	dbSNP gnomAD v3 gnomAD v4
17	g.48728247_48728250dup	CA2809725998	HOXB13	c.347_350dup (p.Glu118ArgfsTer10)
17	g.48728249_48728250delinsCG	CA2263242536	HOXB13	c.344_345delinsCG (p.Thr115=)
17	g.48728250del	CA915950426	HOXB13	c.344del (p.Thr115ArgfsTer?)	ClinVar dbSNP
17	g.48728250G>A	CA8634005	HOXB13	c.344C>T (p.Thr115Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.48728250G>C	CA400107656	HOXB13	c.344C>G (p.Thr115Arg)	dbSNP
17	g.48728250G=	CA2263242537	HOXB13	c.344C= (p.Thr115=)
17	g.48728250G>T	CA400107655	HOXB13	c.344C>A (p.Thr115Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.48728251T>A	CA400107657	HOXB13	c.343A>T (p.Thr115Ser)	dbSNP
17	g.48728251T>C	CA400107658	HOXB13	c.343A>G (p.Thr115Ala)	gnomAD v4
17	g.48728251T>G	CA400107659	HOXB13	c.343A>C (p.Thr115Pro)	dbSNP
17	g.48728252G>A	CA500661883	HOXB13	c.342C>T (p.Pro114=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.48728252G>C	CA500661879	HOXB13	c.342C>G (p.Pro114=)
17	g.48728252G=	CA2263242538	HOXB13	c.342C= (p.Pro114=)
17	g.48728252G>T	CA500661881	HOXB13	c.342C>A (p.Pro114=)
17	g.48728253G>A	CA400107660	HOXB13	c.341C>T (p.Pro114Leu)	gnomAD v4
17	g.48728253G>C	CA400107661	HOXB13	c.341C>G (p.Pro114Arg)
17	g.48728253G>T	CA400107662	HOXB13	c.341C>A (p.Pro114His)
17	g.48728254G>A	CA400107663	HOXB13	c.340C>T (p.Pro114Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.48728254G>C	CA400107664	HOXB13	c.340C>G (p.Pro114Ala)	ClinVar dbSNP gnomAD v4
17	g.48728254G=	CA2263242539	HOXB13	c.340C= (p.Pro114=)
17	g.48728254G>T	CA8634006	HOXB13	c.340C>A (p.Pro114Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.48728255A>C	CA500661887	HOXB13	c.339T>G (p.Thr113=)
17	g.48728255A>G	CA500661888	HOXB13	c.339T>C (p.Thr113=)
17	g.48728255A>T	CA500661891	HOXB13	c.339T>A (p.Thr113=)	ClinVar
17	g.48728256G>A	CA400107665	HOXB13	c.338C>T (p.Thr113Ile)
17	g.48728256G>C	CA400107666	HOXB13	c.338C>G (p.Thr113Ser)
17	g.48728256G=	CA2263242540	HOXB13	c.338C= (p.Thr113=)
17	g.48728256G>T	CA400107667	HOXB13	c.338C>A (p.Thr113Asn)	ClinVar dbSNP
17	g.48728257T>A	CA400107670	HOXB13	c.337A>T (p.Thr113Ser)
17	g.48728257T>C	CA400107669	HOXB13	c.337A>G (p.Thr113Ala)
17	g.48728257T>G	CA400107668	HOXB13	c.337A>C (p.Thr113Pro)
17	g.48728257dup	CA915950427	HOXB13	c.337dup (p.Thr113AsnfsTer14)	ClinVar dbSNP
17	g.48728258C>A	CA400107671	HOXB13	c.336G>T (p.Glu112Asp)
17	g.48728258C=	CA2263242541	HOXB13	c.336G= (p.Glu112=)
17	g.48728258C>G	CA400107672	HOXB13	c.336G>C (p.Glu112Asp)	dbSNP
17	g.48728258C>T	CA500661894	HOXB13	c.336G>A (p.Glu112=)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.48728259T>A	CA400107673	HOXB13	c.335A>T (p.Glu112Val)
17	g.48728259T>C	CA400107674	HOXB13	c.335A>G (p.Glu112Gly)	gnomAD v4
17	g.48728259T>G	CA400107675	HOXB13	c.335A>C (p.Glu112Ala)
17	g.48728260C>A	CA400107676	HOXB13	c.334G>T (p.Glu112Ter)
17	g.48728260C=	CA2263242542	HOXB13	c.334G= (p.Glu112=)
17	g.48728260C>G	CA400107677	HOXB13	c.334G>C (p.Glu112Gln)	dbSNP
17	g.48728260C>T	CA400107678	HOXB13	c.334G>A (p.Glu112Lys)	ClinVar dbSNP
17	g.48728261C>A	CA500661899	HOXB13	c.333G>T (p.Ala111=)	ClinVar dbSNP
17	g.48728261C=	CA2263242543	HOXB13	c.333G= (p.Ala111=)
17	g.48728261C>G	CA500661900	HOXB13	c.333G>C (p.Ala111=)	dbSNP gnomAD v4
17	g.48728261C>T	CA8634007	HOXB13	c.333G>A (p.Ala111=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched