Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_001100588.3
p.N139N
c.417C>T
NM_001100588.3
p.A5E
c.14C>A
NM_001100588.3
p.Q82K
c.244C>A
NM_001100588.3
p.E144D
c.432G>T
NM_001100588.3
p.E144D
c.432G>C
NM_001100588.3
p.S177T
c.529T>A
NM_001100588.3
p.V224delFs
c.671_672delCA
NM_001100588.3
p.K236K
c.708A>G
NM_001100588.3
p.D258Y
c.772G>T
NM_001100588.3
p.A380A
c.1140T>C
NM_001100588.3
p.S414N
c.1241G>A
NM_001100588.3
p.C416S
c.1246T>A