Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_033418.4
p.E10D
c.30A>T
NM_033418.4
p.E10D
c.30A>C
NM_033418.4
p.E89Q
c.265G>C
NM_033418.4
p.S30P
c.88T>C
NM_033418.4
p.E42K
c.124G>A
NM_033418.4
p.A50P
c.148G>C
NM_033418.4
p.E51K
c.151G>A
NM_033418.4
p.H59Y
c.175C>T
NM_033418.4
p.P106T
c.316C>A
NM_033418.4
p.Y162F
c.485A>T
NM_033418.4
p.C171fs
c.511_512fs
NM_033418.4
p.D174N
c.520G>A