Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_003798.4
p.E527Q
c.1579G>C
NM_003798.4
p.N91T
c.272A>C
NM_003798.4
p.V141V
c.423G>A
NM_003798.4
p.R598W
c.1792C>T
NM_003798.4
p.M716R
c.2147T>G
NM_003798.4
p.V16L
c.46G>C
NM_003798.4
p.S21F
c.62C>T
NM_003798.4
p.K33delFs
c.99delT
NM_003798.4
p.A88A
c.264T>A
NM_003798.4
p.A90V
c.269C>T
NM_003798.4
p.E99del1
c.295_297delTTC
NM_003798.4
p.L117R
c.350T>G