Papers
RefSeq ID
Protein change
DNA change
1–12 of 165 variants
NM_173812.5
p.R290H
c.869G>A
NM_173812.5
p.R298C
c.892C>T
NM_173812.5
p.I647V
c.1939A>G
NM_173812.5
p.K680*
c.2038A>T
NM_173812.5
p.Q345*
c.1033C>T
NM_173812.5
p.S395delFs
c.1183delA
NM_173812.5
p.T493R
c.1478C>G
NM_173812.5
p.Q342*
c.1024C>T
NM_173812.5
p.M358K
c.1073T>A
NM_173812.5
p.W406_A407Splc
c.1218+1G>A
NM_173812.5
p.K511delFs
c.1532delT
NM_173812.5
p.L560delFs
c.1679delA