Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_016357.5
p.L25I
c.73C>A
NM_016357.5
p.K306fs
c.916_917fs
NM_016357.5
p.S24F
c.71C>T
NM_016357.5
p.R9W
c.25C>T
NM_016357.5
p.L23V
c.67C>G
NM_016357.5
p.A83delFs
c.249delT
NM_016357.5
p.E84fs
c.250_251fs
NM_016357.5
p.Q139*
c.415C>T
NM_016357.5
p.P143L
c.428C>T
NM_016357.5
p.C164Y
c.491G>A
NM_016357.5
p.K210_I211Splc
c.631-2A>G
NM_016357.5
p.G239delFs
c.715delC