Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_052943.4
p.T20K
c.59C>A
NM_052943.4
p.H416R
c.1247A>G
NM_052943.4
p.R135H
c.404G>A
NM_052943.4
p.E256K
c.766G>A
NM_052943.4
p.R269H
c.806G>A
NM_052943.4
p.R291W
c.871C>T
NM_052943.4
p.R303P
c.908G>C
NM_052943.4
p.E9Q
c.25G>C
NM_052943.4
p.A40A
c.120C>T
NM_052943.4
p.P45L
c.134C>T
NM_052943.4
p.V57G
c.170T>G
NM_052943.4
p.S65N
c.194G>A