Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_013270.5
p.S163P
c.487T>C
NM_013270.5
p.Q256*
c.766C>T
NM_013270.5
p.Y307_E308Splc
c.922-4A>G
NM_013270.5
p.L309L
c.925C>T
NM_013270.5
p.L29ins1
c.86_87insGCT
NM_013270.5
p.P44P
c.132G>A
NM_013270.5
p.Q75P
c.224A>C
NM_013270.5
p.T86_M87insGCT
c.256_260ins9
NM_013270.5
p.C104S
c.310T>A
NM_013270.5
p.C273Y
c.818G>A
NM_013270.5
p.T310A
c.928A>G
NM_013270.5
p.V8I
c.22G>A