Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_002865.3
p.R46*
c.136C>T
NM_002865.3
p.Q58H
c.174G>C
NM_002865.3
p.Q58H
c.174G>T
NM_002865.3
p.Q65L
c.194A>T
NM_002865.3
p.N119I
c.356A>T
NM_002865.3
p.G142A
c.425G>C
NM_002865.3
p.T15T
c.45A>G
NM_002865.3
p.G16Splc
c.46+4A>C
NM_002865.3
p.K19E
c.55A>G
NM_002865.3
p.L23S
c.68T>C
NM_002865.3
p.D28V
c.83A>T
NM_002865.3
p.I39M
c.117T>G