Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_001114133.3
p.P707L
c.2120C>T
NM_001114133.3
p.G2S
c.4G>A
NM_001114133.3
p.S833Y
c.2498C>A
NM_001114133.3
p.K35_I36Splc
c.105+1G>T
NM_001114133.3
p.R158H
c.473G>A
NM_001114133.3
p.E26K
c.76G>A
NM_001114133.3
p.R158C
c.472C>T
NM_001114133.3
p.P233L
c.698C>T
NM_001114133.3
p.R851W
c.2551C>T
NM_001114133.3
p.A15S
c.43G>T
NM_001114133.3
p.R20*
c.58C>T
NM_001114133.3
p.G23W
c.67G>T