Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_144598.5
p.L56_P57Splc
c.168+2645A>G
NM_144598.5
p.V80F
c.238G>T
NM_144598.5
p.H115Y
c.343C>T
NM_144598.5
p.L116V
c.346C>G
NM_144598.5
p.G131D
c.392G>A
NM_144598.5
p.L139P
c.416T>C
NM_144598.5
p.T163S
c.487A>T
NM_144598.5
p.T163S
c.488C>G
NM_144598.5
p.R191G
c.571C>G
NM_144598.5
p.D198Splc
c.593-1G>A
NM_144598.5
p.G232Splc
c.695+1G>T
NM_144598.5
p.R252Q
c.755G>A