Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_013312.3
p.E657K
c.1969G>A
NM_013312.3
p.L41P
c.122T>C
NM_013312.3
p.D45D
c.135C>T
NM_013312.3
p.A52E
c.155C>A
NM_013312.3
p.L72_K73insFs
c.216_217insA
NM_013312.3
p.R77W
c.229C>T
NM_013312.3
p.D85N
c.253G>A
NM_013312.3
p.S100_F105delFs
c.300_315del16
NM_013312.3
p.G112S
c.334G>A
NM_013312.3
p.L115_Q116insFs
c.345_346insC
NM_013312.3
p.E126K
c.376G>A
NM_013312.3
p.E126D
c.378G>T