The
UMD-CSB
mutations database
Lys to Stop mutations
Variation type
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Lys337X
c.1009A>T
5
337
Small rearrangement
Tv
A->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Disease
References
54
CS1AN
Heterozygous
U.S.A.
6