Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_016322.4
p.Q70L
c.209A>T
NM_016322.4
p.T67M
c.200C>T
NM_016322.4
p.G123A
c.368G>C
NM_016322.4
p.G18Splc
c.53-1G>A
NM_016322.4
p.L27W
c.80T>G
NM_016322.4
p.K35fs
c.103_104fs
NM_016322.4
p.I44L
c.130A>C
NM_016322.4
p.R51R
c.153A>G
NM_016322.4
p.E54K
c.160G>A
NM_016322.4
p.S56G
c.166A>G
NM_016322.4
p.G57D
c.170G>A
NM_016322.4
p.I60fs
c.178_179fs