Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_018130.3
p.D175Y
c.523G>T
NM_018130.3
p.I276_D277delFs
c.828_831del4
NM_018130.3
p.R335C
c.1003C>T
NM_018130.3
p.E292K
c.874G>A
NM_018130.3
p.A426V
c.1277C>T
NM_018130.3
p.S489N
c.1466G>A
NM_018130.3
p.F72C
c.215T>G
NM_018130.3
p.L49S
c.146T>C
NM_018130.3
p.Y65*
c.195T>G
NM_018130.3
p.Y65*
c.195T>A
NM_018130.3
p.V271E
c.812T>A
NM_018130.3
p.D277fs
c.829_830fs