Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001276343.3
p.R507C
c.1519C>T
NM_001276343.3
p.L62F
c.184C>T
NM_001276343.3
p.T357S
c.1069A>T
NM_001276343.3
p.T357S
c.1070C>G
NM_001276343.3
p.R515H
c.1544G>A
NM_001276343.3
p.R633C
c.1897C>T
NM_001276343.3
p.A36_A43del0
c.108_128del21
NM_001276343.3
p.R507H
c.1520G>A
NM_001276343.3
p.R517G
c.1549C>G
NM_001276343.3
p.G35V
c.104G>T
NM_001276343.3
p.G37E
c.110G>A
NM_001276343.3
p.A75Splc
c.223+3G>A