Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
NM_001080397.3
p.R176W
c.526C>T
NM_001080397.3
p.A210V
c.629C>T
NM_001080397.3
p.I56T
c.167T>C
NM_001080397.3
p.R57C
c.169C>T
NM_001080397.3
p.N65H
c.193A>C
NM_001080397.3
p.M103T
c.308T>C
NM_001080397.3
p.A503S
c.1507G>T
NM_001080397.3
p.P20_D22delFs
c.59_65del7
NM_001080397.3
p.V35M
c.103G>A
NM_001080397.3
p.N44ins3
c.130_131ins9
NM_001080397.3
p.S59_N65del7
c.175_194del21
NM_001080397.3
p.S59P
c.175T>C