Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001487.4
p.L62P
c.185T>C
NM_001487.4
p.D68N
c.202G>A
NM_001487.4
p.H69P
c.206A>C
NM_001487.4
p.G120E
c.359G>A
NM_001487.4
p.G73Splc
c.218+3A>G
NM_001487.4
p.A95D
c.284C>A
NM_001487.4
p.G120G
c.360G>C
NM_001487.4
p.M1K
c.2T>A
NM_001487.4
p.L30R
c.89T>G
NM_001487.4
p.E46D
c.138G>C
NM_001487.4
p.E46D
c.138G>T
NM_001487.4
p.E49*
c.145G>T