Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_003338.5
p.C85S
c.253T>A
NM_003338.5
p.C85S
c.254G>C
NM_003338.5
p.D117A
c.350A>C
NM_003338.5
p.S22L
c.65C>T
NM_003338.5
p.T36N
c.107C>A
NM_003338.5
p.A44T
c.130G>A
NM_003338.5
p.Q92R
c.275A>G
NM_003338.5
p.P95L
c.284C>T
NM_003338.5
p.K128E
c.382A>G
NM_003338.5
p.M1K
c.2T>A
NM_003338.5
p.K8_E9Splc
c.24+11064G>A
NM_003338.5
p.K8_E9Splc
c.25-10521G>A