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.48728241_48728242delinsTC	CA2263242527	HOXB13	c.352_353delinsGA (p.Glu118=)
17	g.48728242C>A	CA400107644	HOXB13	c.352G>T (p.Glu118Ter)	ClinVar
17	g.48728242C=	CA2263242528	HOXB13	c.352G= (p.Glu118=)
17	g.48728242C>G	CA400107643	HOXB13	c.352G>C (p.Glu118Gln)
17	g.48728242C>T	CA400107642	HOXB13	c.352G>A (p.Glu118Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.48728245del	CA772658853	HOXB13	c.352del (p.Glu118LysfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.48728243C>A	CA500661860	HOXB13	c.351G>T (p.Gly117=)
17	g.48728243C=	CA2263242529	HOXB13	c.351G= (p.Gly117=)
17	g.48728243C>G	CA500661861	HOXB13	c.351G>C (p.Gly117=)	ClinVar dbSNP gnomAD v4
17	g.48728243C>T	CA500661862	HOXB13	c.351G>A (p.Gly117=)	ClinVar dbSNP gnomAD v4
17	g.48728244C>A	CA400107645	HOXB13	c.350G>T (p.Gly117Val)	ClinVar dbSNP gnomAD v4
17	g.48728244C=	CA2263242530	HOXB13	c.350G= (p.Gly117=)
17	g.48728244C>G	CA400107646	HOXB13	c.350G>C (p.Gly117Ala)
17	g.48728244C>T	CA8634001	HOXB13	c.350G>A (p.Gly117Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.48728247_48728250dup	CA2809725998	HOXB13	c.347_350dup (p.Glu118ArgfsTer10)
17	g.48728245C>A	CA400107647	HOXB13	c.349G>T (p.Gly117Trp)	dbSNP
17	g.48728245C=	CA2263242531	HOXB13	c.349G= (p.Gly117=)
17	g.48728245C>G	CA400107648	HOXB13	c.349G>C (p.Gly117Arg)	dbSNP
17	g.48728245C>T	CA8634002	HOXB13	c.349G>A (p.Gly117Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.48728246G>A	CA8634003	HOXB13	c.348C>T (p.Ala116=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.48728246G>C	CA500661866	HOXB13	c.348C>G (p.Ala116=)	ClinVar dbSNP gnomAD v4
17	g.48728246G=	CA2263242532	HOXB13	c.348C= (p.Ala116=)
17	g.48728246G>T	CA500661867	HOXB13	c.348C>A (p.Ala116=)	COSMIC
17	g.48728247G>A	CA400107649	HOXB13	c.347C>T (p.Ala116Val)
17	g.48728247G>C	CA400107650	HOXB13	c.347C>G (p.Ala116Gly)	ClinVar dbSNP
17	g.48728247G=	CA2263242533	HOXB13	c.347C= (p.Ala116=)
17	g.48728247G>T	CA400107651	HOXB13	c.347C>A (p.Ala116Asp)	gnomAD v4
17	g.48728248C>A	CA400107652	HOXB13	c.346G>T (p.Ala116Ser)
17	g.48728248C=	CA2263242534	HOXB13	c.346G= (p.Ala116=)
17	g.48728248C>G	CA400107653	HOXB13	c.346G>C (p.Ala116Pro)	dbSNP
17	g.48728248C>T	CA400107654	HOXB13	c.346G>A (p.Ala116Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.48728249C>A	CA8634004	HOXB13	c.345G>T (p.Thr115=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.48728249C=	CA2263242535	HOXB13	c.345G= (p.Thr115=)
17	g.48728249C>G	CA500661873	HOXB13	c.345G>C (p.Thr115=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.48728249C>T	CA500661872	HOXB13	c.345G>A (p.Thr115=)	dbSNP gnomAD v2 gnomAD v4
17	g.48728249_48728250delinsCG	CA2263242536	HOXB13	c.344_345delinsCG (p.Thr115=)
17	g.48728249_48728250insT	CA915950425	HOXB13	c.344_345insA (p.Ala116GlyfsTer11)	ClinVar dbSNP
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=)

Number of alleles fetched