Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Reference
Ref.
Mutation comments
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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