Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_012263.5
p.P131L
c.392C>T
NM_012263.5
p.*424R
c.1270T>C
NM_012263.5
p.*424R
c.1270T>A
NM_012263.5
p.K4E
c.10A>G
NM_012263.5
p.S168Splc
c.503+1G>A
NM_012263.5
p.F237F
c.711C>T
NM_012263.5
p.L240L
c.720C>T
NM_012263.5
p.Q27*
c.79C>T
NM_012263.5
p.E97E
c.291A>G
NM_012263.5
p.E100G
c.299A>G
NM_012263.5
p.V179M
c.535G>A
NM_012263.5
p.R210H
c.629G>A