Papers
RefSeq ID
Protein change
DNA change
1–12 of 154 variants
NM_173598.6
p.R554Q
c.1661G>A
NM_173598.6
p.T175R
c.524C>G
NM_173598.6
p.E186fs
c.556_557fs
NM_173598.6
p.R192H
c.575G>A
NM_173598.6
p.P277L
c.830C>T
NM_173598.6
p.D323E
c.969C>G
NM_173598.6
p.D323E
c.969C>A
NM_173598.6
p.P582L
c.1745C>T
NM_173598.6
p.I801L
c.2401A>C
NM_173598.6
p.R818Q
c.2453G>A
NM_173598.6
p.R823H
c.2468G>A
NM_173598.6
p.S904L
c.2711C>T