Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_194251.3
p.R95*
c.283C>T
NM_194251.3
p.Y99*
c.297C>G
NM_194251.3
p.Y99*
c.297C>A
NM_194251.3
p.G68R
c.202G>C
NM_194251.3
p.G68R
c.202G>A
NM_194251.3
p.Y27*
c.81C>G
NM_194251.3
p.Y27*
c.81C>A
NM_194251.3
p.P40L
c.119C>T
NM_194251.3
p.F175_S176delFs
c.525_526delTA
NM_194251.3
p.L2L
c.6G>A
NM_194251.3
p.A3V
c.8C>T
NM_194251.3
p.S9_S11del0
c.27_32del6