Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_001080444.2
p.R302H
c.905G>A
NM_001080444.2
p.D350E
c.1050C>A
NM_001080444.2
p.D350E
c.1050C>G
NM_001080444.2
p.R314S
c.940C>A
NM_001080444.2
p.D350E
c.1050C>A
NM_001080444.2
p.M1K
c.2T>A
NM_001080444.2
p.W18*
c.53G>A
NM_001080444.2
p.W18*
c.54G>A
NM_001080444.2
p.T61delFs
c.182delC
NM_001080444.2
p.V62I
c.184G>A
NM_001080444.2
p.W71L
c.212G>T
NM_001080444.2
p.S80R
c.238A>C