Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001040274.3
p.P486L
c.1457C>T
Surrounding Variants
NM_001040274.3
p.P485T
c.1453C>A
NM_001040274.3
p.Q482L
c.1445A>T
NM_001040274.3
p.P496_K497Splc
c.1488+145G>T
NM_001040274.3
p.D478N
c.1432G>A
NM_001040274.3
p.Q510*
c.1528C>T
NM_001040274.3
p.Q406_M407Splc
c.1219-1G>C
NM_001040274.3
p.M373I
c.1119G>A
NM_001040274.3
p.M373I
c.1119G>C
NM_001040274.3
p.M373I
c.1119G>T
NM_001040274.3
p.I367T
c.1100T>C
NM_001040274.3
p.F365S
c.1094T>C
NM_001040274.3
p.E358Splc
c.1073-656C>T