Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
NM_153002.3
p.S207fs
c.619_620fs
NM_153002.3
p.S642fs
c.1924_1925fs
NM_153002.3
p.P718fs
c.2152_2153fs
NM_153002.3
p.T200T
c.600G>A
NM_153002.3
p.R327H
c.980G>A
NM_153002.3
p.N348D
c.1042A>G
NM_153002.3
p.E516D
c.1548A>T
NM_153002.3
p.E516D
c.1548A>C
NM_153002.3
p.R603W
c.1807C>T
NM_153002.3
p.H622fs
c.1864_1865fs
NM_153002.3
p.G621insFs
c.1863dupG
NM_153002.3
p.S652A
c.1954T>G