Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_020895.5
p.D3N
c.7G>A
NM_020895.5
p.A357Splc
c.1069+1G>A
NM_020895.5
p.T5I
c.14C>T
NM_020895.5
p.S8C
c.23C>G
NM_020895.5
p.G9D
c.26G>A
NM_020895.5
p.P13L
c.38C>T
NM_020895.5
p.S18L
c.53C>T
NM_020895.5
p.L19F
c.55C>T
NM_020895.5
p.R30G
c.88C>G
NM_020895.5
p.R30Q
c.89G>A
NM_020895.5
p.P31S
c.91C>T
NM_020895.5
p.V54L
c.160G>C