Papers
RefSeq ID
Protein change
DNA change
1–12 of 283 variants
NM_000519.4
p.A28S
c.82G>T
NM_000519.4
p.F43L
c.127T>C
NM_000519.4
p.G17R
c.49G>C
NM_000519.4
p.T5I
c.14C>T
NM_000519.4
p.E44K
c.130G>A
NM_000519.4
p.R117C
c.349C>T
NM_000519.4
p.R117H
c.350G>A
NM_000519.4
p.Q40*
c.118C>T
NM_000519.4
p.P101S
c.301C>T
NM_000519.4
p.A143D
c.428C>A
NM_000519.4
p.N13K
c.39T>A
NM_000519.4
p.R31Splc
c.93-1G>A