Molecular Data
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Type Of Mutation
Genic Region
Nucleotide change
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Aminoacid change
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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
371
PSSM
I21
2820+1G>T
2820+1
-
-
-
New. In trans with mutation c.1729+3A>G
Clinical Data
ISTH mutations
371
PSSM
I14
1729+3A>G
1729+3
-
-
-
New. In trans with mutation c.2820+1G>T