Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_016238.3
p.N33D
c.97A>G
NM_016238.3
p.S38A
c.112T>G
NM_016238.3
p.L45H
c.134T>A
NM_016238.3
p.T92A
c.274A>G
NM_016238.3
p.K107*
c.319A>T
NM_016238.3
p.T134A
c.400A>G
NM_016238.3
p.L141_A148delFs
c.423_442del20
NM_016238.3
p.E184A
c.551A>C
NM_016238.3
p.L199delFs
c.595delA
NM_016238.3
p.A341T
c.1021G>A
NM_016238.3
p.R367R
c.1101G>T
NM_016238.3
p.G378Splc
c.1133-930G>T