Papers
RefSeq ID
Protein change
DNA change
1–12 of 530 variants
NM_004387.4
p.R25C
c.73C>T
NM_004387.4
p.E21E
c.63A>G
NM_004387.4
p.T178M
c.533C>T
NM_004387.4
p.Q170*
c.508C>T
NM_004387.4
p.Q198*
c.592C>T
NM_004387.4
p.A119S
c.355G>T
NM_004387.4
p.Y191C
c.572A>G
NM_004387.4
p.N188K
c.564C>G
NM_004387.4
p.N188K
c.564C>A
NM_004387.4
p.E21Q
c.61G>C
NM_004387.4
p.R189G
c.565C>G
NM_004387.4
p.Y259*
c.777C>G