Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
NM_001128831.4
p.R255*
c.763A>T
NM_001128831.4
p.A167V
c.500C>T
NM_001128831.4
p.M1T
c.2T>C
NM_001128831.4
p.D42E
c.126C>A
NM_001128831.4
p.N53K
c.159C>A
NM_001128831.4
p.F67I
c.199T>A
NM_001128831.4
p.H68Y
c.202C>T
NM_001128831.4
p.E72K
c.214G>A
NM_001128831.4
p.E72D
c.216G>T
NM_001128831.4
p.E72D
c.216G>C
NM_001128831.4
p.A143V
c.428C>T
NM_001128831.4
p.T194insFs
c.580_581insC