Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_176819.4
p.R128K
c.383G>A
NM_176819.4
p.S24P
c.70T>C
NM_176819.4
p.T161M
c.482C>T
NM_176819.4
p.R13H
c.38G>A
NM_176819.4
p.L17_A18insFs
c.51_54dup4
NM_176819.4
p.S24insFs
c.71_72ins44
NM_176819.4
p.A25fs
c.73_74fs
NM_176819.4
p.L26P
c.77T>C
NM_176819.4
p.S27N
c.80G>A
NM_176819.4
p.S38Y
c.113C>A
NM_176819.4
p.I64I
c.192C>T
NM_176819.4
p.A84D
c.251C>A