Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_001076675.3
p.I502insFs
c.1505dupT
NM_001076675.3
p.I502fs
c.1504_1505fs
NM_001076675.3
p.A461fs
c.1381_1382fs
NM_001076675.3
p.K180N
c.540A>T
NM_001076675.3
p.K180N
c.540A>C
NM_001076675.3
p.G198E
c.593G>A
NM_001076675.3
p.K248delFs
c.743_744delCT
NM_001076675.3
p.D319G
c.956A>G
NM_001076675.3
p.S354Y
c.1061C>A
NM_001076675.3
p.R361I
c.1082G>T
NM_001076675.3
p.A461A
c.1383T>C
NM_001076675.3
p.C464Y
c.1391G>A