Papers
RefSeq ID
Protein change
DNA change
1–12 of 366 variants
NM_004433.5
p.Q48L
c.143A>T
NM_004433.5
p.G202R
c.604G>C
NM_004433.5
p.R251Q
c.752G>A
NM_004433.5
p.M324I
c.972G>A
NM_004433.5
p.M324I
c.972G>C
NM_004433.5
p.M324I
c.972G>T
NM_004433.5
p.A332P
c.994G>C
NM_004433.5
p.C5W
c.15T>G
NM_004433.5
p.E109*
c.325G>T
NM_004433.5
p.S133F
c.398C>T
NM_004433.5
p.R247Q
c.740G>A
NM_004433.5
p.K320fs
c.958_959fs