Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.28767450_28767553delinsCCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGG	CA2125998809	FOXG1	c.171_274delinsCCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGG (p.His57=)
14	g.28767459_28767515del	CA2624398498	FOXG1	c.180_236del (p.Pro61_Pro79del)	gnomAD v4
14	g.28767463_28767516del	CA961450220	FOXG1	c.184_237del (p.Ala62_Pro79del)	gnomAD v3 gnomAD v4
14	g.28767457_28767559del	CA915948869	FOXG1	c.178_280del (p.Pro60ThrfsTer?)	ClinVar dbSNP
14	g.28767465_28767518del	CA2624398508	FOXG1	c.186_239del (p.Pro63_Pro80del)	gnomAD v4
14	g.28767488_28767514dup	CA16619860	FOXG1	c.209_235dup (p.Pro78_Pro79insGlnGlnGlnGlnProProProProPro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.28767488_28767514del	CA172179	FOXG1	c.209_235del (p.Gln70_Pro78del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.28767486_28767515del	CA16619859	FOXG1	c.207_236del (p.Gln70_Pro79del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.28767483_28767515del	CA704761543	FOXG1	c.204_236del (p.Pro69_Pro79del)	ClinVar dbSNP gnomAD v4
14	g.28767480_28767515del	CA2624398513	FOXG1	c.201_236del (p.Pro68_Pro79del)	gnomAD v4
14	g.28767501_28767530del	CA2624398523	FOXG1	c.222_251del (p.Pro75_Pro84del)	gnomAD v4
14	g.28767513_28767515dup	CA234031	FOXG1	c.234_236dup (p.Pro79_Pro80insPro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.28767510_28767515dup	CA658658251	FOXG1	c.231_236dup (p.Pro79_Pro80insProPro)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.28767507_28767515dup	CA704761699	FOXG1	c.228_236dup (p.Pro79_Pro80insProProPro)	dbSNP gnomAD v3 gnomAD v4
14	g.28767513_28767515del	CA258396552	FOXG1	c.234_236del (p.Pro79del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.28767510_28767515del	CA2125998875	FOXG1	c.231_236del (p.Pro78_Pro79del)	dbSNP gnomAD v4
14	g.28767507_28767515del	CA613324859	FOXG1	c.228_236del (p.Pro77_Pro79del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.28767504_28767515del	CA2624398524	FOXG1	c.225_236del (p.Pro76_Pro79del)	gnomAD v4
14	g.28767504_28767533del	CA2624398530	FOXG1	c.225_254del (p.Pro76_Pro85del)	gnomAD v4
14	g.28767507_28767522delinsGCCGCCGCCCCCGGCA	CA2125998884	FOXG1	c.228_243delinsGCCGCCGCCCCCGGCA (p.Pro76=)
14	g.28767512_28767526del	CA658798203	FOXG1	c.233_247del (p.Pro78_Pro82del)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.28767513_28767608del	CA3038942624	FOXG1	c.234_329del (p.Pro79_Pro110del)
14	g.28767514_28767519dup	CA2590338731	FOXG1	c.235_240dup (p.Pro80_Ala81insProPro)	gnomAD v3 gnomAD v4
14	g.28767513del	CA2997007738	FOXG1	c.234del (p.Pro80ArgfsTer?)
14	g.28767513G>A	CA486098080	FOXG1	c.234G>A (p.Pro78=)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.28767513G>C	CA486098081	FOXG1	c.234G>C (p.Pro78=)	gnomAD v4
14	g.28767513G=	CA2125998890	FOXG1	c.234G= (p.Pro78=)
14	g.28767513G>T	CA486098082	FOXG1	c.234G>T (p.Pro78=)	gnomAD v4
14	g.28767513_28767516delinsGCCC	CA2125998889	FOXG1	c.234_237delinsGCCC (p.Pro78=)
14	g.28767513_28767514insGCC	CA2499222614	FOXG1	c.234_235insGCC (p.Pro78_Pro79insAla)	ClinVar dbSNP
14	g.28767514C>A	CA258396555	FOXG1	c.235C>A (p.Pro79Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.28767514C=	CA2125998891	FOXG1	c.235C= (p.Pro79=)
14	g.28767514C>G	CA389474685	FOXG1	c.235C>G (p.Pro79Ala)	ClinVar dbSNP
14	g.28767514C>T	CA389474686	FOXG1	c.235C>T (p.Pro79Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.28767518dup	CA314637	FOXG1	c.239dup (p.Ala81GlyfsTer?)	ClinVar dbSNP gnomAD v4
14	g.28767516_28767518dup	CA2624398586	FOXG1	c.237_239dup (p.Pro80_Ala81insPro)	gnomAD v4
14	g.28767518del	CA613324860	FOXG1	c.239del (p.Pro80ArgfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
14	g.28767516_28767518del	CA961450348	FOXG1	c.237_239del (p.Pro80del)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.28767514_28767515insAGCAGCAGCAG	CA2624398600	FOXG1	c.235_236insAGCAGCAGCAG (p.Pro79GlnfsTer?)	gnomAD v4
14	g.28767515C>A	CA389474687	FOXG1	c.236C>A (p.Pro79His)	dbSNP gnomAD v2 gnomAD v4
14	g.28767515C=	CA2125998892	FOXG1	c.236C= (p.Pro79=)
14	g.28767515C>G	CA389474688	FOXG1	c.236C>G (p.Pro79Arg)
14	g.28767515C>T	CA389474689	FOXG1	c.236C>T (p.Pro79Leu)	gnomAD v4
14	g.28767515_28767516insG	CA2624398602	FOXG1	c.236_237insG (p.Ala81GlyfsTer?)	gnomAD v4
14	g.28767516C>A	CA486098083	FOXG1	c.237C>A (p.Pro79=)	gnomAD v4
14	g.28767516C>G	CA486098084	FOXG1	c.237C>G (p.Pro79=)	gnomAD v4
14	g.28767516C>T	CA486098085	FOXG1	c.237C>T (p.Pro79=)	gnomAD v4
14	g.28767516_28767527del	CA2997007777	FOXG1	c.237_248del (p.Pro80_Gln83del)
14	g.28767516_28767517insG	CA2624398610	FOXG1	c.237_238insG (p.Pro80AlafsTer?)	gnomAD v4
14	g.28767517C>A	CA389474692	FOXG1	c.238C>A (p.Pro80Thr)

Number of alleles fetched