Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.44942197_44942245delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC	CA2494534932	SIX3	c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC (p.Ser31=)
2	g.44942230_44942277dup	CA2597075087	SIX3	c.126_173dup (p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsnGlyAlaGlyGlyGlyGly)	gnomAD v3 gnomAD v4
2	g.44942230_44942277del	CA1642255	SIX3	c.126_173del (p.Gly43_Gly58del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942209_44942232dup	CA2658869331	SIX3	c.105_128dup (p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly)	gnomAD v4
2	g.44942209_44942232del	CA2658869333	SIX3	c.105_128del (p.Asn36_Gly43del)	gnomAD v4
2	g.44942211_44942229delinsACGGTGCGGGAGGCGGCGG	CA2494534953	SIX3	c.107_125delinsACGGTGCGGGAGGCGGCGG (p.Asn36=)
2	g.44942215_44942232dup	CA1642260	SIX3	c.111_128dup (p.Gly43_Ala44insAlaGlyGlyGlyGlyGly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942215_44942232del	CA2494534957	SIX3	c.111_128del (p.Ala38_Gly43del)	dbSNP gnomAD v4
2	g.44942213G>A	CA346798898	SIX3	c.109G>A (p.Gly37Ser)
2	g.44942213G>C	CA346798897	SIX3	c.109G>C (p.Gly37Arg)	dbSNP gnomAD v4
2	g.44942213G=	CA2494534960	SIX3	c.109G= (p.Gly37=)
2	g.44942213G>T	CA129166	SIX3	c.109G>T (p.Gly37Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942214G>A	CA346798899	SIX3	c.110G>A (p.Gly37Asp)
2	g.44942214G>C	CA346798900	SIX3	c.110G>C (p.Gly37Ala)
2	g.44942214G>T	CA346798901	SIX3	c.110G>T (p.Gly37Val)	dbSNP
2	g.44942215T>A	CA426126330	SIX3	c.111T>A (p.Gly37=)
2	g.44942215T>C	CA1642262	SIX3	c.111T>C (p.Gly37=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942215T>G	CA426126331	SIX3	c.111T>G (p.Gly37=)
2	g.44942215T=	CA2494534962	SIX3	c.111T= (p.Gly37=)
2	g.44942215_44942233delinsTGCGGGAGGCGGCGGCGGC	CA2494534963	SIX3	c.111_129delinsTGCGGGAGGCGGCGGCGGC (p.Gly37=)
2	g.44942216G>A	CA346798902	SIX3	c.112G>A (p.Ala38Thr)	ClinVar dbSNP
2	g.44942216G>C	CA346798903	SIX3	c.112G>C (p.Ala38Pro)
2	g.44942216G>T	CA346798904	SIX3	c.112G>T (p.Ala38Ser)
2	g.44942228_44942245dup	CA2658869389	SIX3	c.124_141dup (p.Gly47_Ser48insGlyGlyAlaGlyGlyGly)	dbSNP gnomAD v4
2	g.44942228_44942245del	CA1642261	SIX3	c.124_141del (p.Gly42_Gly47del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942217C>A	CA346798905	SIX3	c.113C>A (p.Ala38Glu)	gnomAD v4
2	g.44942217C=	CA2494534966	SIX3	c.113C= (p.Ala38=)
2	g.44942217C>G	CA346798906	SIX3	c.113C>G (p.Ala38Gly)
2	g.44942217C>T	CA1642263	SIX3	c.113C>T (p.Ala38Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.44942218G>A	CA426126332	SIX3	c.114G>A (p.Ala38=)	dbSNP gnomAD v4 COSMIC
2	g.44942218G>C	CA426126333	SIX3	c.114G>C (p.Ala38=)	gnomAD v4
2	g.44942218G=	CA2494534968	SIX3	c.114G= (p.Ala38=)
2	g.44942218G>T	CA1642264	SIX3	c.114G>T (p.Ala38=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942218_44942219insAGCGGC	CA645537516	SIX3	c.114_115insAGCGGC (p.Ala38_Gly39insSerGly)	COSMIC
2	g.44942219G>A	CA346798908	SIX3	c.115G>A (p.Gly39Arg)	dbSNP gnomAD v4
2	g.44942219G>C	CA346798909	SIX3	c.115G>C (p.Gly39Arg)
2	g.44942219G=	CA2494534969	SIX3	c.115G= (p.Gly39=)
2	g.44942219G>T	CA346798907	SIX3	c.115G>T (p.Gly39Ter)	gnomAD v4
2	g.44942220G>A	CA346798910	SIX3	c.116G>A (p.Gly39Glu)	gnomAD v4
2	g.44942220G>C	CA346798911	SIX3	c.116G>C (p.Gly39Ala)	gnomAD v4
2	g.44942220G>T	CA346798912	SIX3	c.116G>T (p.Gly39Val)	gnomAD v4
2	g.44942221A>C	CA426126334	SIX3	c.117A>C (p.Gly39=)
2	g.44942221A>G	CA426126335	SIX3	c.117A>G (p.Gly39=)	gnomAD v4
2	g.44942221A>T	CA426126336	SIX3	c.117A>T (p.Gly39=)	gnomAD v4
2	g.44942221_44942224delinsAGGC	CA2494534971	SIX3	c.117_120delinsAGGC (p.Gly39=)
2	g.44942222G>A	CA346798913	SIX3	c.118G>A (p.Gly40Ser)
2	g.44942222G>C	CA346798914	SIX3	c.118G>C (p.Gly40Arg)	gnomAD v4
2	g.44942222G>T	CA346798915	SIX3	c.118G>T (p.Gly40Cys)	gnomAD v4
2	g.44942232_44942234dup	CA1642265	SIX3	c.128_130dup (p.Gly43_Ala44insGly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942232_44942234del	CA532706661	SIX3	c.128_130del (p.Gly43del)	ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched