Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_001001991.3
p.Q163R
c.488A>G
NM_001001991.3
p.C442C
c.1326C>T
NM_001001991.3
p.D534V
c.1601A>T
NM_001001991.3
p.Q542R
c.1625A>G
NM_001001991.3
p.D553D
c.1659C>T
NM_001001991.3
p.R676*
c.2026C>T
NM_001001991.3
p.E2K
c.4G>A
NM_001001991.3
p.E25Splc
c.74-8C>T
NM_001001991.3
p.R43W
c.127C>T
NM_001001991.3
p.C45Y
c.134G>A
NM_001001991.3
p.C53C
c.159C>T
NM_001001991.3
p.E72K
c.214G>A