Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_024683.4
p.P157A
c.469C>G
NM_024683.4
p.I348V
c.1042A>G
NM_024683.4
p.V5I
c.13G>A
NM_024683.4
p.E11Splc
c.32-14A>G
NM_024683.4
p.E11fs
c.31_32fs
NM_024683.4
p.T18S
c.52A>T
NM_024683.4
p.T18S
c.53C>G
NM_024683.4
p.C32W
c.96C>G
NM_024683.4
p.R34W
c.100C>T
NM_024683.4
p.Q69*
c.205C>T
NM_024683.4
p.Y123*
c.369T>G
NM_024683.4
p.Y123*
c.369T>A