Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_002286.6
p.I455T
c.1364T>C
NM_002286.6
p.P67T
c.199C>A
NM_002286.6
p.G311A
c.932G>C
NM_002286.6
p.T332P
c.994A>C
NM_002286.6
p.E511_E513ins1
c.1533_1538dup6
NM_002286.6
p.A18T
c.52G>A
NM_002286.6
p.M171Splc
c.512-91G>C
NM_002286.6
p.P217L
c.650C>T
NM_002286.6
p.I490F
c.1468A>T
NM_002286.6
p.Q5L
c.14A>T
NM_002286.6
p.F6F
c.18C>T
NM_002286.6
p.L7fs
c.19_20fs