Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_032630.3
p.N53K
c.159C>G
NM_032630.3
p.N53K
c.159C>A
NM_032630.3
p.R164H
c.491G>A
NM_032630.3
p.D177N
c.529G>A
NM_032630.3
p.*213G
c.637T>G
NM_032630.3
p.L59Splc
c.176+118G>A
NM_032630.3
p.S68R
c.204C>G
NM_032630.3
p.E89Q
c.265G>C
NM_032630.3
p.E94E
c.282A>G
NM_032630.3
p.K104N
c.312A>T
NM_032630.3
p.K104N
c.312A>C
NM_032630.3
p.H126N
c.376C>A