Papers
RefSeq ID
Protein change
DNA change
NM_152318.3
p.S14*
c.41C>A
NM_152318.3
p.D19N
c.55G>A
NM_152318.3
p.D19H
c.55G>C
NM_152318.3
p.T31P
c.91A>C
NM_152318.3
p.I46N
c.137T>A
NM_152318.3
p.R81W
c.241C>T
NM_152318.3
p.S125*
c.374C>A
NM_152318.3
p.S125*
c.374C>G
NM_152318.3
p.L176insFs
c.527dupT
NM_152318.3
p.A180E
c.539C>A
NM_152318.3
p.K182E
c.544A>G