Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_178509.6
p.S99A
c.295T>G
NM_178509.6
p.S99F
c.296C>T
NM_178509.6
p.G92R
c.274G>C
NM_178509.6
p.P11P
c.33C>A
NM_178509.6
p.V35I
c.103G>A
NM_178509.6
p.K60fs
c.178_179fs
NM_178509.6
p.K60_D61Splc
c.181-1G>A
NM_178509.6
p.G92R
c.274G>A
NM_178509.6
p.R96Splc
c.287+7A>G
NM_178509.6
p.E102D
c.306G>C
NM_178509.6
p.E102D
c.306G>T
NM_178509.6
p.C120R
c.358T>C