Papers
RefSeq ID
Protein change
DNA change
1–12 of 376 variants
NM_020632.3
p.V2A
c.5T>C
NM_020632.3
p.M580T
c.1739T>C
NM_020632.3
p.R807Q
c.2420G>A
NM_020632.3
p.P395delFs
c.1185delG
NM_020632.3
p.R194*
c.580C>T
NM_020632.3
p.R449H
c.1346G>A
NM_020632.3
p.G820R
c.2458G>C
NM_020632.3
p.M343_E344Splc
c.1029+5G>A
NM_020632.3
p.Q753*
c.2257C>T
NM_020632.3
p.Q753*
c.2257C>T
NM_020632.3
p.G820R
c.2458G>A
NM_020632.3
p.R6*
c.16C>T