Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_145858.3
p.E13D
c.39A>T
NM_145858.3
p.A39T
c.115G>A
NM_145858.3
p.I220V
c.658A>G
NM_145858.3
p.Q44R
c.131A>G
NM_145858.3
p.K48_L49Splc
c.144+1G>A
NM_145858.3
p.M53I
c.159G>T
NM_145858.3
p.M53I
c.159G>C
NM_145858.3
p.M53I
c.159G>A
NM_145858.3
p.R104T
c.311G>C
NM_145858.3
p.A193Splc
c.577+1G>A
NM_145858.3
p.I196T
c.587T>C
NM_145858.3
p.D306N
c.916G>A