Papers
RefSeq ID
Protein change
DNA change
1–12 of 619 variants
NM_000391.4
p.R208*
c.622C>T
NM_000391.4
p.V170Splc
c.509-1G>C
NM_000391.4
p.R447H
c.1340G>A
NM_000391.4
p.S475L
c.1424C>T
NM_000391.4
p.C365Y
c.1094G>A
NM_000391.4
p.Q422H
c.1266G>C
NM_000391.4
p.N286S
c.857A>G
NM_000391.4
p.G296Splc
c.887-10A>G
NM_000391.4
p.Q422H
c.1266G>T
NM_000391.4
p.G77R
c.229G>C
NM_000391.4
p.D276V
c.827A>T
NM_000391.4
p.R127*
c.379C>T