Papers
RefSeq ID
Protein change
DNA change
1–12 of 567 variants
NM_000530.8
p.T124M
c.371C>T
NM_000530.8
p.R98C
c.292C>T
NM_000530.8
p.S63del1
c.187_188delGGA
NM_000530.8
p.R98H
c.293G>A
NM_000530.8
p.S44F
c.131C>T
NM_000530.8
p.S78L
c.233C>T
NM_000530.8
p.D75V
c.224A>T
NM_000530.8
p.Y119C
c.356A>G
NM_000530.8
p.N131K
c.393C>G
NM_000530.8
p.N131K
c.393C>A
NM_000530.8
p.D61G
c.182A>G
NM_000530.8
p.Q215*
c.643C>T