Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_018393.4
p.K178R
c.533A>G
NM_018393.4
p.E26K
c.76G>A
NM_018393.4
p.S456L
c.1367C>T
NM_018393.4
p.P323T
c.967C>A
NM_018393.4
p.R508Q
c.1523G>A
NM_018393.4
p.P47L
c.140C>T
NM_018393.4
p.P58L
c.173C>T
NM_018393.4
p.T62R
c.185C>G
NM_018393.4
p.T69R
c.206C>G
NM_018393.4
p.I131V
c.391A>G
NM_018393.4
p.G135R
c.403G>A
NM_018393.4
p.G135R
c.403G>C