Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_004075.5
p.G553Splc
c.1657+3A>C
NM_004075.5
p.S71A
c.211T>G
NM_004075.5
p.I138I
c.414C>A
NM_004075.5
p.R293H
c.878G>A
NM_004075.5
p.A394T
c.1180G>A
NM_004075.5
p.R431H
c.1292G>A
NM_004075.5
p.G212G
c.636T>C
NM_004075.5
p.L260L
c.778T>C
NM_004075.5
p.S261S
c.783A>C
NM_004075.5
p.R263Q
c.788G>A
NM_004075.5
p.R348C
c.1042C>T
NM_004075.5
p.D387N
c.1159G>A