Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_001258283.2
p.R123H
c.368G>A
NM_001258283.2
p.Y51F
c.152A>T
NM_001258283.2
p.I155T
c.464T>C
NM_001258283.2
p.V175M
c.523G>A
NM_001258283.2
p.V175A
c.524T>C
NM_001258283.2
p.D176N
c.526G>A
NM_001258283.2
p.H177N
c.529C>A
NM_001258283.2
p.H177R
c.530A>G
NM_001258283.2
p.L188P
c.563T>C
NM_001258283.2
p.A202A
c.606T>G
NM_001258283.2
p.I229L
c.685A>T
NM_001258283.2
p.I229L
c.685A>C