Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001378.3
p.E221G
c.662A>G
Surrounding Variants
NM_001378.3
p.R235*
c.703A>T
NM_001378.3
p.L237F
c.709C>T
NM_001271789.2
p.Y221C
c.662A>G
NM_001378.3
p.Y247C
c.740A>G
NM_001378.3
p.A203Splc
c.607+1G>A
NM_001271789.2
p.A177Splc
c.529+1G>A
NM_001271789.2
p.D247G
c.740A>G
NM_001378.3
p.K195delFs
c.584delA
NM_001378.3
p.Q290*
c.868C>T
NM_001271789.2
p.Q264*
c.790C>T
NM_001378.3
p.D171Splc
c.512-3C>T
NM_001271786.2
p.H299L
c.896A>T
NM_001378.3
p.Y327F
c.980A>T
NM_001378.3
p.H330P
c.989A>C
NM_001378.3
p.T352insFs
c.1055_1056insT