Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_145080.4
p.N47S
c.140A>G
NM_145080.4
p.D244N
c.730G>A
NM_145080.4
p.T38R
c.113C>G
NM_145080.4
p.Q20*
c.58C>T
NM_145080.4
p.C40R
c.118T>C
NM_145080.4
p.R46Splc
c.136+10G>A
NM_145080.4
p.S62R
c.184A>C
NM_145080.4
p.S62R
c.186T>G
NM_145080.4
p.S62R
c.186T>A
NM_145080.4
p.V63D
c.188T>A
NM_145080.4
p.T99M
c.296C>T
NM_145080.4
p.I116T
c.347T>C