Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_001011709.3
p.G178insFs
c.533_534insA
NM_001011709.3
p.F450Y
c.1349T>A
NM_001011709.3
p.K431T
c.1292A>C
NM_001011709.3
p.L2F
c.4C>T
NM_001011709.3
p.G3fs
c.7_8fs
NM_001011709.3
p.V7fs
c.19_20fs
NM_001011709.3
p.R16T
c.47G>C
NM_001011709.3
p.E23_R24delFs
c.68_71del4
NM_001011709.3
p.P49T
c.145C>A
NM_001011709.3
p.C107*
c.321C>A
NM_001011709.3
p.G126S
c.376G>A
NM_001011709.3
p.V162L
c.484G>C