Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_003861.3
p.L49L
c.147C>T
NM_003861.3
p.S434*
c.1301C>G
NM_003861.3
p.S434*
c.1301C>A
NM_003861.3
p.R551W
c.1651C>T
NM_003861.3
p.R923Q
c.2768G>A
NM_003861.3
p.G6insFs
c.16_17ins19
NM_003861.3
p.G9delFs
c.26delC
NM_003861.3
p.S71L
c.212C>T
NM_003861.3
p.R76H
c.227G>A
NM_003861.3
p.V78G
c.233T>G
NM_003861.3
p.L79R
c.236T>G
NM_003861.3
p.Q85K
c.253C>A