Papers
RefSeq ID
Protein change
DNA change
1–12 of 122 variants
NM_147129.5
p.E45Q
c.133G>C
NM_147129.5
p.E65*
c.193G>T
NM_147129.5
p.E359K
c.1075G>A
NM_147129.5
p.R782W
c.2344C>T
NM_147129.5
p.L576F
c.1726C>T
NM_147129.5
p.S581I
c.1742G>T
NM_147129.5
p.G730S
c.2188G>A
NM_147129.5
p.R733*
c.2197C>T
NM_147129.5
p.S949F
c.2846C>T
NM_147129.5
p.N3I
c.8A>T
NM_147129.5
p.A8T
c.22G>A
NM_147129.5
p.E13G
c.38A>G