Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_001010858.3
p.E9D
c.27G>C
NM_001010858.3
p.E9D
c.27G>T
NM_001010858.3
p.A11T
c.31G>A
NM_001010858.3
p.A11V
c.32C>T
NM_001010858.3
p.E21K
c.61G>A
NM_001010858.3
p.V23A
c.68T>C
NM_001010858.3
p.R30C
c.88C>T
NM_001010858.3
p.A53T
c.157G>A
NM_001010858.3
p.E76fs
c.226_227fs
NM_001010858.3
p.E76_E77delFs
c.228_231del4
NM_001010858.3
p.D85H
c.253G>C
NM_001010858.3
p.T173A
c.517A>G