Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_020991.4
p.V27I
c.79G>A
NM_020991.4
p.G4Splc
c.11-1G>A
NM_020991.4
p.L16V
c.46C>G
NM_020991.4
p.W20*
c.60G>A
NM_020991.4
p.F57_E58Splc
c.172-1G>T
NM_020991.4
p.F70L
c.208T>C
NM_020991.4
p.F70L
c.210C>G
NM_020991.4
p.F70L
c.210C>A
NM_020991.4
p.S83P
c.247T>C
NM_020991.4
p.L99P
c.296T>C
NM_020991.4
p.R204C
c.610C>T
NM_020991.4
p.M1R
c.2T>G