Papers
RefSeq ID
Protein change
DNA change
NM_016025.5
p.R20W
c.58A>T
NM_016025.5
p.W16*
c.47G>A
NM_016025.5
p.W16*
c.48G>A
NM_016025.5
p.Q55_W56Splc
c.166-2A>T
NM_016025.5
p.Y57F
c.170A>T
NM_016025.5
p.Q79*
c.235C>T
NM_016025.5
p.S92L
c.275C>T
NM_016025.5
p.L99F
c.297A>C
NM_016025.5
p.L99F
c.297A>T
NM_016025.5
p.Y188Y
c.564C>T
NM_016025.5
p.V228V
c.684C>T
NM_016025.5
p.F290Y
c.869T>A