Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_001031732.4
p.S54F
c.161C>T
NM_001031732.4
p.E249del1
c.745_746delTTC
NM_001031732.4
p.A3V
c.8C>T
NM_001031732.4
p.E7D
c.21G>T
NM_001031732.4
p.E7insFs
c.20dupA
NM_001031732.4
p.E7D
c.21G>C
NM_001031732.4
p.Q37Q
c.111A>G
NM_001031732.4
p.D38N
c.112G>A
NM_001031732.4
p.D38E
c.114T>G
NM_001031732.4
p.D38E
c.114T>A
NM_001031732.4
p.Q37_D38delFs
c.110_113del4
NM_001031732.4
p.N40K
c.120T>G