Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
NM_015179.4
p.Y375N
c.1123T>A
NM_015179.4
p.R581Q
c.1742G>A
NM_015179.4
p.R684H
c.2051G>A
NM_015179.4
p.E1084K
c.3250G>A
NM_015179.4
p.G1145S
c.3433G>A
NM_015179.4
p.V1242M
c.3724G>A
NM_015179.4
p.P8L
c.23C>T
NM_015179.4
p.A13V
c.38C>T
NM_015179.4
p.L15S
c.44T>C
NM_015179.4
p.C31F
c.92G>T
NM_015179.4
p.R34insFs
c.100_101ins7
NM_015179.4
p.R34insFs
c.100_101ins10