Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
NM_031310.3
p.R358*
c.1072C>T
NM_031310.3
p.L34P
c.101T>C
NM_031310.3
p.Q330*
c.988C>T
NM_031310.3
p.V32I
c.94G>A
NM_031310.3
p.N113insFs
c.339dupT
NM_031310.3
p.A114fs
c.340_341fs
NM_031310.3
p.R296C
c.886C>T
NM_031310.3
p.A321A
c.963G>A
NM_031310.3
p.S441Splc
c.1323-2A>C
NM_031310.3
p.E6Q
c.16G>C
NM_031310.3
p.H7H
c.21C>T
NM_031310.3
p.A12T
c.34G>A