Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
NM_001099218.3
p.T316fs
c.946_947fs
NM_001099218.3
p.E683G
c.2048A>G
NM_001099218.3
p.G1037D
c.3110G>A
NM_001099218.3
p.T316insFs
c.946_947insA
NM_001099218.3
p.E823K
c.2467G>A
NM_001099218.3
p.V876L
c.2626G>C
NM_001099218.3
p.R1131insFs
c.3391_3392ins5
NM_001099218.3
p.Q5*
c.13C>T
NM_001099218.3
p.P16S
c.46C>T
NM_001099218.3
p.T17P
c.49A>C
NM_001099218.3
p.P23H
c.68C>A
NM_001099218.3
p.P26R
c.77C>G