Papers
RefSeq ID
Protein change
DNA change
1–12 of 154 variants
NM_001080418.3
p.T763P
c.2287A>C
NM_001080418.3
p.G85fs
c.253_254fs
NM_001080418.3
p.G85fs
c.253_254fs
NM_001080418.3
p.G587R
c.1759G>C
NM_001080418.3
p.G85delFs
c.254delC
NM_001080418.3
p.G381S
c.1141G>A
NM_001080418.3
p.R428C
c.1282C>T
NM_001080418.3
p.P606T
c.1816C>A
NM_001080418.3
p.R770L
c.2309G>T
NM_001080418.3
p.M859_D860Splc
c.2578-11C>T
NM_001080418.3
p.R13C
c.37C>T
NM_001080418.3
p.P45T
c.133C>A