Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_001377960.1
p.R498C
c.1492C>T
NM_001377960.1
p.A77V
c.230C>T
NM_001377960.1
p.F185L
c.553T>C
NM_001377960.1
p.F185L
c.555C>G
NM_001377960.1
p.F185L
c.555C>A
NM_001377960.1
p.D381E
c.1143T>G
NM_001377960.1
p.D381E
c.1143T>A
NM_001377960.1
p.P815S
c.2443C>T
NM_001377960.1
p.N864H
c.2590A>C
NM_001377960.1
p.K997fs
c.2989_2990fs
NM_001377960.1
p.T24K
c.71C>A
NM_001377960.1
p.G32R
c.94G>C