Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_014811.5
p.N834D
c.2500A>G
NM_014811.5
p.R381L
c.1142G>T
NM_014811.5
p.M434T
c.1301T>C
NM_014811.5
p.G577S
c.1729G>A
NM_014811.5
p.G1054insFs
c.3161dupG
NM_014811.5
p.S42L
c.125C>T
NM_014811.5
p.G62D
c.185G>A
NM_014811.5
p.A81T
c.241G>A
NM_014811.5
p.A95V
c.284C>T
NM_014811.5
p.G154R
c.460G>A
NM_014811.5
p.G154R
c.460G>C
NM_014811.5
p.P157Q
c.470C>A