Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_001277053.2
p.Q37fs
c.109_110fs
NM_001277053.2
p.Q37delFs
c.109_110delTG
NM_001277053.2
p.R49Q
c.146G>A
NM_001277053.2
p.R65*
c.193C>T
NM_001277053.2
p.L99V
c.295C>G
NM_001277053.2
p.E109_N110del2
c.325_329del6
NM_001277053.2
p.R122H
c.365G>A
NM_001277053.2
p.K131M
c.392A>T
NM_001277053.2
p.R198Q
c.593G>A
NM_001277053.2
p.Q212Q
c.636G>A
NM_001277053.2
p.N229I
c.686A>T
NM_001277053.2
p.S237N
c.710G>A