Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_033439.4
p.E204_L205Splc
c.613-1G>C
NM_033439.4
p.Y163Y
c.489C>T
NM_033439.4
p.M1V
c.1A>G
NM_033439.4
p.M1_K2insFs
c.3_4insA
NM_033439.4
p.N10K
c.30C>A
NM_033439.4
p.N10K
c.30C>G
NM_033439.4
p.K28_G30del0
c.83_88del6
NM_033439.4
p.E38Q
c.112G>C
NM_033439.4
p.M52V
c.154A>G
NM_033439.4
p.R61K
c.182G>A
NM_033439.4
p.G73S
c.217G>A
NM_033439.4
p.A83_Q88del6
c.247_263del18