Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
NM_002950.4
p.H238Y
c.712C>T
NM_002950.4
p.L11V
c.31C>G
NM_002950.4
p.R391H
c.1172G>A
NM_002950.4
p.D402D
c.1206C>T
NM_002950.4
p.T144A
c.430A>G
NM_002950.4
p.I381insFs
c.1142dupT
NM_002950.4
p.M1_E2insFs
c.3_4insA
NM_002950.4
p.P4S
c.10C>T
NM_002950.4
p.A5S
c.13G>T
NM_002950.4
p.A5P
c.13G>C
NM_002950.4
p.A5V
c.14C>T
NM_002950.4
p.A18T
c.52G>A