Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_017827.4
p.D390G
c.1169A>G
NM_017827.4
p.R402H
c.1205G>A
NM_017827.4
p.V223M
c.667G>A
NM_017827.4
p.G204R
c.610G>C
NM_017827.4
p.Q57H
c.171G>T
NM_017827.4
p.Q57H
c.171G>C
NM_017827.4
p.P67S
c.199C>T
NM_017827.4
p.G142D
c.425G>A
NM_017827.4
p.R216C
c.646C>T
NM_017827.4
p.D405N
c.1213G>A
NM_017827.4
p.M1V
c.1A>G
NM_017827.4
p.W10*
c.29G>A