Papers
RefSeq ID
Protein change
DNA change
1–12 of 158 variants
NM_013374.6
p.S730L
c.2189C>T
NM_013374.6
p.D314N
c.940G>A
NM_013374.6
p.G429S
c.1285G>A
NM_013374.6
p.G117E
c.350G>A
NM_013374.6
p.A383T
c.1147G>A
NM_013374.6
p.N550S
c.1649A>G
NM_013374.6
p.R715insFs
c.2143_2144ins46
NM_013374.6
p.P720insFs
c.2158_2159ins46
NM_013374.6
p.A52_A53insFs
c.154_158dup5
NM_013374.6
p.A53T
c.157G>A
NM_013374.6
p.V54fs
c.160_161fs
NM_013374.6
p.C76S
c.226T>A