Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
NM_152468.5
p.N306I
c.917A>T
NM_152468.5
p.R190*
c.568C>T
NM_152468.5
p.E362*
c.1084G>T
NM_152468.5
p.E369E
c.1107G>A
NM_152468.5
p.W376Splc
c.1127+1G>C
NM_152468.5
p.D45Y
c.133G>T
NM_152468.5
p.W63*
c.188G>A
NM_152468.5
p.W63*
c.189G>A
NM_152468.5
p.G187S
c.559G>A
NM_152468.5
p.G187_S195delFs
c.561_583del23
NM_152468.5
p.W250*
c.749G>A
NM_152468.5
p.V256delFs
c.767delT