Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Ref.
Mutation comments
Clinical Data ISTH mutations 249 PSSM E28 4917G>A 4917 L1639L 1639 A2 Corrales et al. 2012 New. Unknown phase with other mutations
Clinical Data ISTH mutations 249 PSSM E28 4923G>A 4923 R1641R 1641 A2 Corrales et al. 2012 New. Unknown phase with other mutations
Clinical Data ISTH mutations 249 Missense E30 5311G>A 5311 G1771R 1771 A3 Corrales et al. 2012 New. Unknown phase with other mutations
Clinical Data ISTH mutations 249 Missense E42 7150C>T 7150 R2384W 2384 Interdomain Corrales et al. 2012 New. Unknown phase with other mutations