Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_033438.4
p.I127L
c.379A>T
NM_033438.4
p.I127L
c.379A>C
NM_033438.4
p.D174D
c.522T>C
NM_033438.4
p.N208N
c.624C>T
NM_033438.4
p.P5S
c.13C>T
NM_033438.4
p.L8P
c.23T>C
NM_033438.4
p.G16Splc
c.46+1G>A
NM_033438.4
p.G16Splc
c.46+41C>A
NM_033438.4
p.G16Splc
c.46+292C>T
NM_033438.4
p.E29A
c.86A>C
NM_033438.4
p.V30L
c.88G>T
NM_033438.4
p.V30L
c.88G>C