Papers
RefSeq ID
Protein change
DNA change
1–12 of 614 variants
NM_001199397.3
p.R261H
c.782G>A
NM_001199397.3
p.S1036*
c.3107C>G
NM_001199397.3
p.S1036*
c.3107C>A
NM_001199397.3
p.P287A
c.859C>G
NM_001199397.3
p.R127*
c.379C>T
NM_001199397.3
p.A341T
c.1021G>A
NM_001199397.3
p.R812*
c.2434A>T
NM_001199397.3
p.N547insFs
c.1640dupA
NM_001199397.3
p.N745K
c.2235T>G
NM_001199397.3
p.N745K
c.2235T>A
NM_001199397.3
p.A290Splc
c.869-2A>G
NM_001199397.3
p.M545T
c.1634T>C