Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_032147.5
p.E36K
c.106G>A
NM_032147.5
p.E71D
c.213G>T
NM_032147.5
p.E71D
c.213G>C
NM_032147.5
p.D94E
c.282C>A
NM_032147.5
p.P602S
c.1804C>T
NM_032147.5
p.V77I
c.229G>A
NM_032147.5
p.M123L
c.367A>T
NM_032147.5
p.M123L
c.367A>C
NM_032147.5
p.L291fs
c.871_872fs
NM_032147.5
p.L291_I296Fs
c.873_886delinsTFs
NM_032147.5
p.S475_Q476delFs
c.1425_1428del4
NM_032147.5
p.D5N
c.13G>A