Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_133496.5
p.K7insFs
c.21dupA
NM_133496.5
p.I57T
c.170T>C
NM_133496.5
p.H164delins
c.490_491delinsAG
NM_133496.5
p.S281Splc
c.842+15T>C
NM_133496.5
p.K7Q
c.19A>C
NM_133496.5
p.F39L
c.115T>C
NM_133496.5
p.F39L
c.117T>A
NM_133496.5
p.F39L
c.117T>G
NM_133496.5
p.D67N
c.199G>A
NM_133496.5
p.D94N
c.280G>A
NM_133496.5
p.Y98H
c.292T>C
NM_133496.5
p.A103V
c.308C>T