Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_021814.5
p.G230V
c.689G>T
NM_021814.5
p.L72V
c.214C>G
NM_021814.5
p.Y184C
c.551A>G
NM_021814.5
p.P18S
c.52C>T
NM_021814.5
p.Y32*
c.96T>A
NM_021814.5
p.I37T
c.110T>C
NM_021814.5
p.G49fs
c.145_146fs
NM_021814.5
p.G49delFs
c.146delC
NM_021814.5
p.S60F
c.179C>T
NM_001242828.2
p.Q102*
c.304C>T
NM_021814.5
p.E82_L83Splc
c.246+3891C>T
NM_021814.5
p.G90S
c.268G>A