Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_001365597.4
p.E184Q
c.550G>C
NM_001365597.4
p.M103K
c.308T>A
NM_001365597.4
p.C2R
c.4T>C
NM_001365597.4
p.G4D
c.11G>A
NM_001365597.4
p.R7L
c.20G>T
NM_001365597.4
p.M16I
c.48G>T
NM_001365597.4
p.M16I
c.48G>C
NM_001365597.4
p.M16I
c.48G>A
NM_001365597.4
p.P18A
c.52C>G
NM_001365597.4
p.P18P
c.54G>A
NM_001365597.4
p.A22V
c.65C>T
NM_001365597.4
p.G25R
c.73G>C