Papers
RefSeq ID
Protein change
DNA change
NM_014051.4
p.P27L
c.80C>T
NM_014051.4
p.V53I
c.157G>A
NM_014051.4
p.M1_D2ins3
c.3_4ins9
NM_014051.4
p.G24D
c.71G>A
NM_014051.4
p.A39V
c.116C>T
NM_014051.4
p.R51Q
c.152G>A
NM_014051.4
p.V83I
c.247G>A
NM_014051.4
p.*100fs
c.298_299fs