Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_001080407.3
p.E195K
c.583G>A
NM_001080407.3
p.R293K
c.878G>A
NM_001080407.3
p.S433W
c.1298C>G
NM_001080407.3
p.R468C
c.1402C>T
NM_001080407.3
p.V474M
c.1420G>A
NM_001080407.3
p.D501N
c.1501G>A
NM_001080407.3
p.R558H
c.1673G>A
NM_001080407.3
p.P31H
c.92C>A
NM_001080407.3
p.W53C
c.159G>C
NM_001080407.3
p.W53C
c.159G>T
NM_001080407.3
p.G67*
c.199G>T
NM_001080407.3
p.F80L
c.238T>C