Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_004537.7
p.E54G
c.161A>G
NM_004537.7
p.I67T
c.200T>C
NM_004537.7
p.D349E
c.1047T>G
NM_004537.7
p.D349E
c.1047T>A
NM_004537.7
p.M1T
c.2T>C
NM_004537.7
p.D3D
c.9C>T
NM_004537.7
p.N6Y
c.16A>T
NM_004537.7
p.K7T
c.20A>C
NM_004537.7
p.D13Y
c.37G>T
NM_004537.7
p.L16L
c.48G>A
NM_004537.7
p.V19insFs
c.56_57insG
NM_004537.7
p.V19A
c.56T>C