Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_018492.4
p.N107S
c.320A>G
NM_018492.4
p.K87M
c.260A>T
NM_018492.4
p.R101H
c.302G>A
NM_018492.4
p.P137L
c.410C>T
NM_018492.4
p.E220D
c.660G>T
NM_018492.4
p.E220D
c.660G>C
NM_018492.4
p.M1T
c.2T>C
NM_018492.4
p.M1ins5
c.1_2ins15
NM_018492.4
p.G3W
c.7G>T
NM_018492.4
p.I4insFs
c.12dupC
NM_018492.4
p.S5T
c.14G>C
NM_018492.4
p.K8R
c.23A>G