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Showing all entries with the following effect: cryptic splice site (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
352	CD 22 GGC>GGT new donor consensus	N/A	HBA2:c.69C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33844
2210	CD 31 AGG>CGG [Arg>Arg]	N/A	HBA2:c.94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33869
2487	CD 31 AGG>GGG [Arg>Gly]	Hb Maranon	HBA2:c.94A>G	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33869
3217	CD 31 AGG>TGG [Arg>Trp]	Hb Debao	HBA2:c.94A>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33869
3745	IVS I-1 G>A	N/A	HBA2:c.95+1G>A	α2	Causative	α-thalassaemia	NG_000006.1	33871
3266	CD 22 GGC>GGT [Gly>Gly]	N/A	HBA1:c.69C>T	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37648
65	CD 10 GCC>GCA [Ala>Ala]	N/A	HBB:c.33C>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70627
79	CD 19 AAC>AGC [Asn>Ser]	Hb Malay	HBB:c.59A>G	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70653
86	CD 24 GGT>GGA [Gly>Gly]	N/A	HBB:c.75T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70669
88	CD 26 GAG>AAG [Glu>Lys]	HbE	HBB:c.79G>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70673
894	CD 26 GAG>GCG	Hb Tripoli	HBB:c.80A>C	β	Causative	β-chain variant	NG_000007.3	70674
91	CD 27 GCC>TCC [Ala>Ser]	Hb Knossos	HBB:c.82G>T	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70676
3066	IVS I-108 T>C	N/A	HBB:c.93-23T>C	β	Causative	β-thalassaemia	NG_000007.3	70794
113	IVS I-110 G>A	N/A	HBB:c.93-21G>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70796
114	IVS I-116 (T>G)	N/A	HBB:c.93-15T>G	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70802
211	IVS II-654 C>T	N/A	HBB:c.316-197C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71693
3866	IVS II-659_664 (-GCAATA)	N/A	HBB:c.316-192_187del	β	Causative	β-thalassaemia	NG_000007.3	71698
212	IVS II-705 (T>G)	N/A	HBB:c.316-146T>G	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71744
214	IVS II-745 C>G	N/A	HBB:c.316-106C>G	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71784
217	IVS II-837 (T>G)	N/A	HBB:c.316-14T>G	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71876

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