Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_015918.4
p.R93H
c.278G>A
NM_015918.4
p.K112delFs
c.335delT
NM_015918.4
p.Y8*
c.24C>A
NM_015918.4
p.V14M
c.40G>A
NM_015918.4
p.D16E
c.48C>A
NM_015918.4
p.C20R
c.58T>C
NM_015918.4
p.R21R
c.63C>T
NM_015918.4
p.L29L
c.87G>A
NM_015918.4
p.D35N
c.103G>A
NM_015918.4
p.I37_A38ins5
c.111_112ins15
NM_015918.4
p.F44delFs
c.131delA
NM_015918.4
p.C49S
c.146G>C