Papers
RefSeq ID
Protein change
DNA change
1–12 of 178 variants
NM_014633.5
p.R201C
c.601C>T
NM_014633.5
p.Q319_E320Splc
c.958-2A>G
NM_014633.5
p.K398_G399Splc
c.1194+2T>C
NM_014633.5
p.E1150G
c.3449A>G
NM_014633.5
p.Q36*
c.106C>T
NM_014633.5
p.R98W
c.292C>T
NM_014633.5
p.A220T
c.658G>A
NM_014633.5
p.E376K
c.1126G>A
NM_014633.5
p.K398_G399Splc
c.1194+3A>C
NM_014633.5
p.E469K
c.1405G>A
NM_014633.5
p.H487H
c.1461C>T
NM_014633.5
p.T498T
c.1494C>T