Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_013308.4
p.Q205H
c.615G>T
NM_013308.4
p.Q205H
c.615G>C
NM_013308.4
p.I283V
c.847A>G
NM_013308.4
p.R208I
c.623G>T
NM_013308.4
p.Y22fs
c.64_65fs
NM_013308.4
p.F34S
c.101T>C
NM_013308.4
p.L62M
c.184C>A
NM_013308.4
p.V89insFs
c.266dupT
NM_013308.4
p.V89fs
c.265_266fs
NM_013308.4
p.T90fs
c.268_269fs
NM_013308.4
p.C113S
c.337T>A
NM_013308.4
p.R124Q
c.371G>A