Papers
RefSeq ID
Protein change
DNA change
1–12 of 116 variants
NM_016340.6
p.H388R
c.1163A>G
NM_016340.6
p.E395K
c.1183G>A
NM_016340.6
p.S640fs
c.1918_1919fs
NM_016340.6
p.Q1452R
c.4355A>G
NM_016340.6
p.N2insFs
c.4dupA
NM_016340.6
p.V5V
c.15G>A
NM_016340.6
p.K16N
c.48G>T
NM_016340.6
p.K16N
c.48G>C
NM_016340.6
p.Y29_S30insFs
c.87_88ins5
NM_016340.6
p.S30A
c.88T>G
NM_016340.6
p.E36G
c.107A>G
NM_016340.6
p.Q45*
c.133C>T