Papers
RefSeq ID
Protein change
DNA change
1–12 of 253 variants
NM_206996.4
p.E158V
c.473A>T
NM_206996.4
p.R1448Q
c.4343G>A
NM_206996.4
p.R143Q
c.428G>A
NM_206996.4
p.P1348L
c.4043C>T
NM_206996.4
p.D357H
c.1069G>C
NM_206996.4
p.H2160Q
c.6480C>G
NM_206996.4
p.H2160Q
c.6480C>A
NM_206996.4
p.C806F
c.2417G>T
NM_206996.4
p.R946L
c.2837G>T
NM_206996.4
p.L2036Q
c.6107T>A
NM_206996.4
p.Q58H
c.174G>T
NM_206996.4
p.Q58H
c.174G>C