Papers
RefSeq ID
Protein change
DNA change
1–12 of 137 variants
NM_014847.4
p.R124*
c.370C>T
NM_014847.4
p.P655insFs
c.1964dupC
NM_014847.4
p.L656fs
c.1966_1967fs
NM_014847.4
p.M1insFs
c.3dupG
NM_014847.4
p.R9Q
c.26G>A
NM_014847.4
p.Q30*
c.88C>T
NM_014847.4
p.G182fs
c.544_545fs
NM_014847.4
p.G188*
c.562G>T
NM_014847.4
p.G197Splc
c.590+1G>A
NM_014847.4
p.T198fs
c.592_593fs
NM_014847.4
p.E251K
c.751G>A
NM_014847.4
p.F518L
c.1552T>C