Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_015122.3
p.R40Splc
c.120-1G>C
NM_015122.3
p.G65Splc
c.195-2A>C
NM_015122.3
p.R650*
c.1948C>T
NM_015122.3
p.V675insFs
c.2023_2024insG
NM_015122.3
p.R679P
c.2036G>C
NM_015122.3
p.W9_G10Splc
c.27+1G>A
NM_015122.3
p.A34P
c.100G>C
NM_015122.3
p.K163_A164Splc
c.489+1G>A
NM_015122.3
p.R186Q
c.557G>A
NM_015122.3
p.V876insFs
c.2628dupG
NM_015122.3
p.R177C
c.529C>T
NM_015122.3
p.V675fs
c.2023_2024fs