Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_174942.3
p.P419L
c.1256C>T
NM_174942.3
p.R281Q
c.842G>A
NM_174942.3
p.W8L
c.23G>T
NM_174942.3
p.P20P
c.60T>A
NM_174942.3
p.G26E
c.77G>A
NM_174942.3
p.V32I
c.94G>A
NM_174942.3
p.S100delFs
c.300delA
NM_174942.3
p.N102fs
c.304_305fs
NM_174942.3
p.P104S
c.310C>T
NM_174942.3
p.R106T
c.317G>C
NM_174942.3
p.D113G
c.338A>G
NM_174942.3
p.V149Splc
c.446-72C>T