Papers
RefSeq ID
Protein change
DNA change
1–12 of 213 variants
NM_031889.3
p.K53*
c.157A>T
NM_031889.3
p.L420insFs
c.1259_1260insAG
NM_031889.3
p.S216L
c.647C>T
NM_031889.3
p.Q178_R179Splc
c.534+1G>A
NM_031889.3
p.Q794H
c.2382A>T
NM_031889.3
p.S246*
c.737C>A
NM_031889.3
p.S246*
c.737C>G
NM_031889.3
p.Q178del1
c.532_533delCAG
NM_031889.3
p.I648T
c.1943T>C
NM_031889.3
p.I997delFs
c.2991delT
NM_031889.3
p.N36delFs
c.107delA
NM_031889.3
p.R179M
c.536G>T