Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_020768.4
p.K381fs
c.1141_1142fs
NM_020768.4
p.A384fs
c.1150_1151fs
NM_020768.4
p.D160N
c.478G>A
NM_020768.4
p.S303S
c.909C>T
NM_020768.4
p.R335C
c.1003C>T
NM_020768.4
p.K383delFs
c.1149delA
NM_020768.4
p.H416L
c.1247A>T
NM_020768.4
p.S49S
c.147C>T
NM_020768.4
p.W52*
c.155G>A
NM_020768.4
p.W52*
c.156G>A
NM_020768.4
p.V94E
c.281T>A
NM_020768.4
p.V94G
c.281T>G