Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_016223.5
p.P415L
c.1244C>T
NM_016223.5
p.R28W
c.82C>T
NM_016223.5
p.A61V
c.182C>T
NM_016223.5
p.A93V
c.278C>T
NM_016223.5
p.E278K
c.832G>A
NM_016223.5
p.E4A
c.11A>C
NM_016223.5
p.G20R
c.58G>C
NM_016223.5
p.T25S
c.73A>T
NM_016223.5
p.D31D
c.93C>T
NM_016223.5
p.A58A
c.174T>A
NM_016223.5
p.G71Splc
c.211+2T>C
NM_016223.5
p.R90_A93delFs
c.270_277del8