The
UMD-CSB
mutations database
Glu to Insertion mutations
Variation type
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu325ArgfsX44
c.972dup
5
325
Small rearrangement
Fr.
Stop at 368
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Disease
References
44
CS2PV
Heterozygous
ITALY
3