Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_002523.3
p.P301S
c.901C>T
NM_002523.3
p.R384H
c.1151G>A
NM_002523.3
p.Q275K
c.823C>A
NM_002523.3
p.Q299*
c.895C>T
NM_002523.3
p.M1delFs
c.2delT
NM_002523.3
p.L5R
c.14T>G
NM_002523.3
p.V9delFs
c.27delG
NM_002523.3
p.A15S
c.43G>T
NM_002523.3
p.A17D
c.50C>A
NM_002523.3
p.G24G
c.72T>C
NM_002523.3
p.L43V
c.127C>G
NM_002523.3
p.P47S
c.139C>T