Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_007270.5
p.V314M
c.940G>A
NM_007270.5
p.H567Q
c.1701C>A
NM_007270.5
p.H567Q
c.1701C>G
NM_007270.5
p.R189H
c.566G>A
NM_007270.5
p.R107H
c.320G>A
NM_007270.5
p.I126fs
c.376_377fs
NM_007270.5
p.V335V
c.1005C>G
NM_007270.5
p.D358N
c.1072G>A
NM_007270.5
p.G549R
c.1645G>A
NM_007270.5
p.G549R
c.1645G>C
NM_007270.5
p.M1K
c.2T>A
NM_007270.5
p.R4R
c.12G>C