Papers
RefSeq ID
Protein change
DNA change
1–12 of 118 variants
NM_053054.4
p.G133S
c.397G>A
NM_053054.4
p.L180_P181insFs
c.540_541insT
NM_053054.4
p.D317insFs
c.949_950ins5
NM_053054.4
p.V166M
c.496G>A
NM_053054.4
p.R295W
c.883C>T
NM_053054.4
p.V652I
c.1954G>A
NM_053054.4
p.V50M
c.148G>A
NM_053054.4
p.R54C
c.160C>T
NM_053054.4
p.H264N
c.790C>A
NM_053054.4
p.R408R
c.1222C>A
NM_053054.4
p.A495D
c.1484C>A
NM_053054.4
p.S505L
c.1514C>T