Papers
RefSeq ID
Protein change
DNA change
1–12 of 185 variants
NM_001145263.2
p.L261F
c.781C>T
NM_001145263.2
p.K447R
c.1340A>G
NM_001145263.2
p.Q7*
c.19C>T
NM_001145263.2
p.I31V
c.91A>G
NM_001145263.2
p.R36W
c.106C>T
NM_001145263.2
p.E61G
c.182A>G
NM_001145263.2
p.R148insFs
c.442dupC
NM_001145263.2
p.T229I
c.686C>T
NM_001145263.2
p.N248S
c.743A>G
NM_001145263.2
p.D303G
c.908A>G
NM_001145263.2
p.G441E
c.1322G>A
NM_001145263.2
p.L599H
c.1796T>A