Papers
RefSeq ID
Protein change
DNA change
1–12 of 353 variants
NM_006825.4
p.L514F
c.1540C>T
NM_006825.4
p.G12D
c.35G>A
NM_006825.4
p.G12C
c.34G>T
NM_006825.4
p.G12V
c.35G>T
NM_006825.4
p.S174S
c.522C>G
NM_006825.4
p.A16delFs
c.46_47delGC
NM_006825.4
p.P46_P47del1
c.138_140delGGC
NM_006825.4
p.P46_P47del2
c.136_140del6
NM_006825.4
p.R240Q
c.719G>A
NM_006825.4
p.R311G
c.931A>G
NM_006825.4
p.G12S
c.34G>A
NM_006825.4
p.N235T
c.704A>C