Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_001282112.2
p.Y336F
c.1007A>T
NM_001282112.2
p.R338W
c.1012C>T
NM_001282112.2
p.R472Q
c.1415G>A
NM_001282112.2
p.C666R
c.1996T>C
NM_001282112.2
p.P378Q
c.1133C>A
NM_001282112.2
p.S767P
c.2299T>C
NM_001282112.2
p.K10M
c.29A>T
NM_001282112.2
p.M1insFs
c.2dupT
NM_001282112.2
p.P237T
c.709C>A
NM_001282112.2
p.D669A
c.2006A>C
NM_001282112.2
p.L5_M6insFs
c.15_16ins11
NM_001282112.2
p.E9Q
c.25G>C