Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_080678.3
p.C116S
c.346T>A
NM_080678.3
p.C116S
c.347G>C
NM_080678.3
p.T3M
c.8C>T
NM_080678.3
p.T19M
c.56C>T
NM_080678.3
p.T19delFs
c.57delG
NM_080678.3
p.A23V
c.68C>T
NM_080678.3
p.E43D
c.129A>C
NM_080678.3
p.E43D
c.129A>T
NM_080678.3
p.D72Splc
c.214+8566C>T
NM_080678.3
p.D72Splc
c.215-3T>C
NM_080678.3
p.E73A
c.218A>C
NM_080678.3
p.G74S
c.220G>A