Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_198483.4
p.R89H
c.266G>A
NM_198483.4
p.V18I
c.52G>A
NM_198483.4
p.G44D
c.131G>A
NM_198483.4
p.L49delFs
c.147delG
NM_198483.4
p.R77W
c.229C>T
NM_198483.4
p.R79Q
c.236G>A
NM_198483.4
p.G112fs
c.334_335fs
NM_198483.4
p.R143C
c.427C>T
NM_198483.4
p.I147S
c.440T>G
NM_198483.4
p.A153V
c.458C>T
NM_198483.4
p.Q165*
c.493C>T
NM_198483.4
p.S183F
c.548C>T