Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
NM_020872.3
p.R867Q
c.2600G>A
NM_020872.3
p.I183L
c.547A>T
NM_020872.3
p.I183L
c.547A>C
NM_020872.3
p.C339F
c.1016G>T
NM_020872.3
p.Q385Q
c.1155A>G
NM_020872.3
p.T657M
c.1970C>T
NM_020872.3
p.P770L
c.2309C>T
NM_020872.3
p.M1insFs
c.2dupT
NM_020872.3
p.L11L
c.33T>C
NM_020872.3
p.S12*
c.35C>G
NM_020872.3
p.S12*
c.35C>A
NM_020872.3
p.L22P
c.65T>C