Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_006558.3
p.S286F
c.857C>T
NM_006558.3
p.M1K
c.2T>A
NM_006558.3
p.E12*
c.34G>T
NM_006558.3
p.Q29R
c.86A>G
NM_006558.3
p.D47N
c.139G>A
NM_006558.3
p.P63L
c.188C>T
NM_006558.3
p.V64I
c.190G>A
NM_006558.3
p.K69_F70Splc
c.207+1G>T
NM_006558.3
p.G81R
c.241G>C
NM_006558.3
p.E90E
c.270A>G
NM_006558.3
p.S96P
c.286T>C
NM_006558.3
p.L98F
c.292C>T