Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_000953.3
p.R147R
c.441C>T
NM_000953.3
p.L123I
c.367C>A
NM_000953.3
p.R298R
c.894G>A
NM_000953.3
p.C183C
c.549C>T
NM_000953.3
p.R348R
c.1044G>A
NM_000953.3
p.W48*
c.143G>A
NM_000953.3
p.T69M
c.206C>T
NM_000953.3
p.Y177*
c.531C>A
NM_000953.3
p.Y177*
c.531C>G
NM_000953.3
p.A253G
c.758C>G
NM_000953.3
p.I282_Y283Splc
c.847-478A>G
NM_000953.3
p.R332Q
c.995G>A