Papers
RefSeq ID
Protein change
DNA change
1–12 of 140 variants
NM_005119.4
p.A201V
c.602C>T
NM_005119.4
p.R504W
c.1510C>T
NM_005119.4
p.R74*
c.220C>T
NM_005119.4
p.W96R
c.286T>A
NM_005119.4
p.G97_Q98del0
c.289_294del6
NM_005119.4
p.R101*
c.301C>T
NM_005119.4
p.Y107Y
c.321C>T
NM_005119.4
p.S253fs
c.757_758fs
NM_005119.4
p.T286A
c.856A>G
NM_005119.4
p.S289_Q294del6
c.865_881del18
NM_005119.4
p.R608H
c.1823G>A
NM_005119.4
p.I681V
c.2041A>G