Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_183238.4
p.Y72C
c.215A>G
NM_183238.4
p.M1K
c.2T>A
NM_183238.4
p.C104*
c.312T>A
NM_183238.4
p.C283Y
c.848G>A
NM_183238.4
p.R483W
c.1447A>T
NM_183238.4
p.A515S
c.1543G>T
NM_183238.4
p.Q524H
c.1572G>T
NM_183238.4
p.Q524H
c.1572G>C
NM_183238.4
p.V546L
c.1636G>T
NM_183238.4
p.G562E
c.1685G>A
NM_183238.4
p.K590N
c.1770A>T
NM_183238.4
p.K590N
c.1770A>C