Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
NM_001105556.3
p.K511E
c.1531A>G
NM_001105556.3
p.F111L
c.331T>C
NM_001105556.3
p.F111L
c.333C>A
NM_001105556.3
p.F111L
c.333C>G
NM_001105556.3
p.K245Q
c.733A>C
NM_001105556.3
p.R503Q
c.1508G>A
NM_001105556.3
p.V10M
c.28G>A
NM_001105556.3
p.V21A
c.62T>C
NM_001105556.3
p.L22M
c.64C>A
NM_001105556.3
p.R23W
c.67C>T
NM_001105556.3
p.G32Splc
c.95-131G>A
NM_001105556.3
p.G32Splc
c.95-4G>A