Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
NM_016040.5
p.T175I
c.524C>T
NM_016040.5
p.Y49*
c.147C>G
NM_016040.5
p.Y49*
c.147C>A
NM_016040.5
p.K164E
c.490A>G
NM_016040.5
p.P10S
c.28C>T
NM_016040.5
p.Q188R
c.563A>G
NM_016040.5
p.N191N
c.573C>T
NM_016040.5
p.M200T
c.599T>C
NM_016040.5
p.M1V
c.1A>G
NM_016040.5
p.M1insFs
c.2dupT
NM_016040.5
p.M1insFs
c.1_2dupAT
NM_016040.5
p.G2A
c.5G>C