Papers
RefSeq ID
Protein change
DNA change
1–12 of 118 variants
NM_003793.4
p.S480L
c.1439C>T
NM_003793.4
p.Q321R
c.962A>G
NM_003793.4
p.R71_A72Splc
c.213+1G>C
NM_003793.4
p.S319fs
c.955_956fs
NM_003793.4
p.G458A
c.1373G>C
NM_003793.4
p.R226C
c.676C>T
NM_003793.4
p.Y231C
c.692A>G
NM_003793.4
p.G415R
c.1243G>C
NM_003793.4
p.G415R
c.1243G>A
NM_003793.4
p.P42P
c.126C>T
NM_003793.4
p.S139*
c.416C>G
NM_003793.4
p.S139*
c.416C>A