Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_032122.5
p.Q103*
c.307C>T
NM_032122.5
p.P272S
c.814C>T
NM_032122.5
p.W59*
c.176G>A
NM_032122.5
p.W59*
c.177G>A
NM_032122.5
p.N257fs
c.769_770fs
NM_032122.5
p.N257_S258delFs
c.771_774del4
NM_032122.5
p.G271Splc
c.811+59A>G
NM_032122.5
p.Q278*
c.832C>T
NM_032122.5
p.S24N
c.71G>A
NM_032122.5
p.R37Splc
c.111-2A>G
NM_032122.5
p.A219T
c.655G>A
NM_032122.5
p.E223Splc
c.667+48G>T