Papers
RefSeq ID
Protein change
DNA change
1–12 of 256 variants
NM_000523.4
p.G11A
c.32G>C
NM_000523.4
p.A62_A71ins3
c.186_212dup27
NM_000523.4
p.R306Q
c.917G>A
NM_000523.4
p.Q248*
c.742C>T
NM_000523.4
p.N314H
c.940A>C
NM_000523.4
p.E317G
c.950A>G
NM_000523.4
p.A61_A69ins3
c.183_206dup24
NM_000523.4
p.R274*
c.820C>T
NM_000523.4
p.R306W
c.916C>T
NM_000523.4
p.T313R
c.938C>G
NM_000523.4
p.S316C
c.947C>G
NM_000523.4
p.A61_A68ins2
c.183_203dup21