Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_152716.3
p.A41T
c.121G>A
NM_152716.3
p.H215R
c.644A>G
NM_152716.3
p.S243F
c.728C>T
NM_152716.3
p.R284W
c.850C>T
NM_152716.3
p.L293F
c.877C>T
NM_152716.3
p.E5*
c.13G>T
NM_152716.3
p.D43Splc
c.127+4A>G
NM_152716.3
p.E48D
c.144A>T
NM_152716.3
p.E48D
c.144A>C
NM_152716.3
p.N65I
c.194A>T
NM_152716.3
p.G69A
c.206G>C
NM_152716.3
p.G71A
c.212G>C