Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_001101372.3
p.R86Q
c.257G>A
NM_001101372.3
p.P3R
c.8C>G
NM_001101372.3
p.A5fs
c.13_14fs
NM_001101372.3
p.G20V
c.59G>T
NM_001101372.3
p.G27Splc
c.79+10C>T
NM_001101372.3
p.R68C
c.202C>T
NM_001101372.3
p.R68H
c.203G>A
NM_001101372.3
p.I71L
c.211A>C
NM_001101372.3
p.R84W
c.250C>T
NM_001101372.3
p.L87V
c.259C>G
NM_001101372.3
p.L104L
c.312C>T
NM_001101372.3
p.R117H
c.350G>A