Papers
RefSeq ID
Protein change
DNA change
1–12 of 188 variants
NM_014588.6
p.R166W
c.496C>T
NM_014588.6
p.G160D
c.479G>A
NM_014588.6
p.D144E
c.432C>G
NM_014588.6
p.D144E
c.432C>A
NM_014588.6
p.L159M
c.475T>A
NM_014588.6
p.P247R
c.740C>G
NM_014588.6
p.H244R
c.731A>G
NM_014588.6
p.L17P
c.50T>C
NM_014588.6
p.G160V
c.479G>T
NM_014588.6
p.Q209_V210Splc
c.627+23G>A
NM_014588.6
p.N151S
c.452A>G
NM_014588.6
p.Q175H
c.525G>T