Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_015004.4
p.V274L
c.820G>C
NM_015004.4
p.V274L
c.820G>T
NM_015004.4
p.T5A
c.13A>G
NM_015004.4
p.S229L
c.686C>T
NM_015004.4
p.S177S
c.531G>A
NM_015004.4
p.P74Q
c.221C>A
NM_015004.4
p.C85Splc
c.255-85A>G
NM_015004.4
p.E104K
c.310G>A
NM_015004.4
p.L124I
c.370C>A
NM_015004.4
p.L124R
c.371T>G
NM_015004.4
p.Y136C
c.407A>G
NM_015004.4
p.L148V
c.442T>G