IthaGenes

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IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
4062	285 kb deletion	N/A	N/A	AXIN1, HBM, α1, α2, ζ, HS40	Causative	α-thalassaemia	NG_000006.1
3939	~274 kb dup	N/A	N/A	AXIN1, HBM, NPRL3, α1, α2, ζ, HS40	Modifier	N/A	NG_000006.1
3273	--VS	N/A	NC_000016.10:g.(100364_105222)_(376261_986851)del	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia	NG_000006.1	0
3514	170 kb deletion	N/A	N/A	AXIN1, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3284	--PG	N/A	NC_000016.10:g.93628_542759del450131	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
4110	146 kb deletion	N/A	NC_000016.10:g.148636_295089del	ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia	NG_000006.1	9499
3193	rs148706947	N/A	NG_012267.1:g.65247G>A	AXIN1	Modifier	Anaemia	NG_012267.1	65247

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