Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_001168.3
p.Q11E
c.31C>G
NM_001168.3
p.S81P
c.241T>C
NM_001168.3
p.T34A
c.100A>G
NM_001168.3
p.E129K
c.385G>A
NM_001168.3
p.R18R
c.54C>G
NM_001168.3
p.K103R
c.308A>G
NM_001168.3
p.I113_A114Splc
c.340-1G>A
NM_001168.3
p.P4P
c.12G>C
NM_001168.3
p.C31G
c.91T>G
NM_001168.3
p.D53A
c.158A>C
NM_001168.3
p.T117A
c.349A>G
NM_001168.3
p.P4P
c.12G>A