Papers
RefSeq ID
Protein change
DNA change
1–12 of 250 variants
NM_001069.3
p.A248V
c.743C>T
NM_001069.3
p.N247K
c.741C>G
NM_001069.3
p.N247K
c.741C>A
NM_001069.3
p.D417N
c.1249G>A
NM_001069.3
p.G98R
c.292G>C
NM_001069.3
p.G98R
c.292G>A
NM_001069.3
p.R262H
c.785G>A
NM_001069.3
p.Q291P
c.872A>C
NM_001069.3
p.S172P
c.514T>C
NM_001069.3
p.T178M
c.533C>T
NM_001069.3
p.I345F
c.1033A>T
NM_001069.3
p.V49M
c.145G>A