Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_030964.5
p.S241Y
c.722C>A
NM_001127496.3
p.V16I
c.46G>A
NM_001127496.3
p.R30W
c.88C>T
NM_001127496.3
p.C186Y
c.557G>A
NM_030964.5
p.C209Y
c.626G>A
NM_001127496.3
p.S218Y
c.653C>A
NM_030964.5
p.R53Q
c.158G>A
NM_001127496.3
p.D41N
c.121G>A
NM_001127496.3
p.T77M
c.230C>T
NM_030964.5
p.K177R
c.530A>G
NM_001127496.3
p.E160*
c.478G>T
NM_001127496.3
p.R174fs
c.520_521fs