Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_001042475.3
p.D65N
c.193G>A
NM_001042475.3
p.D78Splc
c.232+1G>T
NM_001042475.3
p.D78Splc
c.232+3G>T
NM_001042475.3
p.D78Splc
c.232+5G>T
NM_001042475.3
p.D78Splc
c.232+5G>A
NM_001042475.3
p.S137G
c.409A>G
NM_001042475.3
p.W2*
c.5G>A
NM_001042475.3
p.W2*
c.6G>A
NM_001042475.3
p.S58C
c.172A>T
NM_001042475.3
p.S58N
c.173G>A
NM_001042475.3
p.S61F
c.182C>T
NM_001042475.3
p.D65A
c.194A>C