Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_020829.4
p.R1265P
c.3794G>C
NM_020829.4
p.N418K
c.1254C>A
NM_020829.4
p.N418K
c.1254C>G
NM_020829.4
p.P443R
c.1328C>G
NM_020829.4
p.F3delFs
c.7delT
NM_020829.4
p.S27T
c.79T>A
NM_020829.4
p.A40_R41del2
c.118_122del6
NM_020829.4
p.E58Q
c.172G>C
NM_020829.4
p.E58insFs
c.173_174insAG
NM_020829.4
p.P59_S62delFs
c.176_186del11
NM_020829.4
p.T79A
c.235A>G
NM_020829.4
p.H94N
c.280C>A