Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_004489.5
p.Q290delFs
c.868delG
NM_004489.5
p.E46_E47delFs
c.136_139del4
NM_004489.5
p.V122fs
c.364_365fs
NM_004489.5
p.T306A
c.916A>G
NM_004489.5
p.R323Q
c.968G>A
NM_004489.5
p.M1V
c.1A>G
NM_004489.5
p.M1K
c.2T>A
NM_004489.5
p.P8L
c.23C>T
NM_004489.5
p.M23I
c.69G>T
NM_004489.5
p.M23I
c.69G>C
NM_004489.5
p.M23I
c.69G>A
NM_004489.5
p.R30W
c.88C>T