Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_001448.3
p.R412K
c.1235G>A
NM_001448.3
p.D106delFs
c.316delC
NM_001448.3
p.A442V
c.1325C>T
NM_001448.3
p.E496*
c.1486G>T
NM_001448.3
p.Q506*
c.1516C>T
NM_001448.3
p.Q506_C507insFs
c.1518_1521dup4
NM_001448.3
p.D106fs
c.316_317fs
NM_001448.3
p.F109L
c.325T>C
NM_001448.3
p.F109L
c.327C>G
NM_001448.3
p.F109L
c.327C>A
NM_001448.3
p.K234insFs
c.701dupA
NM_001448.3
p.V235fs
c.703_704fs