Papers
RefSeq ID
Protein change
DNA change
1–12 of 131 variants
NM_004041.5
p.V53D
c.158T>A
NM_004041.5
p.V387A
c.1160T>C
NM_004041.5
p.Y21*
c.63C>A
NM_004041.5
p.C125S
c.373T>A
NM_004041.5
p.C269S
c.805T>A
NM_004041.5
p.C269S
c.806G>C
NM_004041.5
p.G336*
c.1006G>T
NM_004041.5
p.T370M
c.1109C>T
NM_004041.5
p.C125S
c.374G>C
NM_004041.5
p.A151V
c.452C>T
NM_004041.5
p.T227T
c.681G>A
NM_004041.5
p.K232Q
c.694A>C