Papers
RefSeq ID
Protein change
DNA change
1–12 of 629 variants
NM_001079668.3
p.R195W
c.583C>T
NM_001079668.3
p.I155Splc
c.464-9C>A
NM_001079668.3
p.S175*
c.524C>A
NM_001079668.3
p.E205*
c.613G>T
NM_001079668.3
p.R243S
c.727C>A
NM_001079668.3
p.G266del1
c.796_797delGCC
NM_001079668.3
p.G352S
c.1054G>A
NM_001079668.3
p.G5R
c.13G>C
NM_001079668.3
p.C117*
c.351C>A
NM_001079668.3
p.Y130*
c.390C>G
NM_001079668.3
p.Y144*
c.432C>A
NM_001079668.3
p.S217*
c.650C>A