Papers
RefSeq ID
Protein change
DNA change
1–12 of 174 variants
NM_001517.5
p.R46Splc
c.138-1G>A
NM_001517.5
p.R337Q
c.1010G>A
NM_001517.5
p.R33*
c.97C>T
NM_001517.5
p.M1T
c.2T>C
NM_001517.5
p.Q15*
c.43C>T
NM_001517.5
p.C16R
c.46T>C
NM_001517.5
p.C16Y
c.47G>A
NM_001517.5
p.L48F
c.142C>T
NM_001517.5
p.A170V
c.509C>T
NM_001517.5
p.T197A
c.589A>G
NM_001517.5
p.R279Q
c.836G>A
NM_001517.5
p.R280H
c.839G>A