Papers
RefSeq ID
Protein change
DNA change
1–12 of 211 variants
NM_020242.3
p.L1206M
c.3616C>A
NM_020242.3
p.R501L
c.1502G>T
NM_020242.3
p.R32*
c.94C>T
NM_020242.3
p.R32Q
c.95G>A
NM_020242.3
p.S55F
c.164C>T
NM_020242.3
p.R60Q
c.179G>A
NM_020242.3
p.E83fs
c.247_248fs
NM_020242.3
p.G121Splc
c.362-1G>A
NM_020242.3
p.N1020delFs
c.3059delA
NM_020242.3
p.E1314*
c.3940G>T
NM_020242.3
p.P137S
c.409C>T
NM_020242.3
p.S180fs
c.538_539fs