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. 2006 Feb;43(2):157–161. doi: 10.1136/jmg.2005.032086

Table 1 Mutations and polymorphisms identified in ESPN (GenBank accession number NM_031475).

Exon Nucleotide Protein
Mutation
EX10 A2155C S719R
EX10 G2230A D744N
EX10 G2321A R774Q
EX13 2541‐2543delAAG delK848
Polymorphism
EX2 C390U Silent
EX3 C564G Silent
EX3 A591G Silent
EX3 G627A Silent
EX5 G909C Silent
EX8 T1476C Silent