Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_001001557.4
p.A249E
c.746C>A
NM_001001557.4
p.A199T
c.595G>A
NM_001001557.4
p.K424R
c.1271A>G
NM_001001557.4
p.G42V
c.125G>T
NM_001001557.4
p.Y444N
c.1330T>A
NM_001001557.4
p.P327H
c.980C>A
NM_001001557.4
p.D57H
c.169G>C
NM_001001557.4
p.L289P
c.866T>C
NM_001001557.4
p.S429R
c.1285A>C
NM_001001557.4
p.S429R
c.1287C>G
NM_001001557.4
p.S429R
c.1287C>A
NM_001001557.4
p.R46C
c.136C>T