Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_003314.3
p.L14P
c.41T>C
NM_003314.3
p.N88K
c.264T>A
NM_003314.3
p.N88K
c.264T>G
NM_003314.3
p.F262V
c.784T>G
NM_003314.3
p.Q110_K111Splc
c.331-1G>C
NM_003314.3
p.D131Splc
c.392-1G>A
NM_003314.3
p.K201*
c.601A>T
NM_003314.3
p.T202M
c.605C>T
NM_003314.3
p.R239C
c.715C>T
NM_003314.3
p.E3E
c.9G>A
NM_003314.3
p.K4E
c.10A>G
NM_003314.3
p.L14L
c.40C>T