Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_015049.3
p.V142I
c.424G>A
NM_015049.3
p.T528I
c.1583C>T
NM_015049.3
p.R509Q
c.1526G>A
NM_015049.3
p.I584S
c.1751T>G
NM_015049.3
p.E49Q
c.145G>C
NM_015049.3
p.H74Q
c.222C>G
NM_015049.3
p.H74Q
c.222C>A
NM_015049.3
p.R93H
c.278G>A
NM_015049.3
p.T108I
c.323C>T
NM_015049.3
p.N110D
c.328A>G
NM_015049.3
p.D113N
c.337G>A
NM_015049.3
p.A129V
c.386C>T