Papers
RefSeq ID
Protein change
DNA change
1–12 of 218 variants
NM_173596.3
p.Y47*
c.141C>A
NM_173596.3
p.Y47*
c.141C>G
NM_173596.3
p.M304T
c.911T>C
NM_173596.3
p.G413A
c.1238G>C
NM_173596.3
p.R84W
c.250C>T
NM_173596.3
p.P287L
c.860C>T
NM_173596.3
p.R319T
c.956G>C
NM_173596.3
p.D193N
c.577G>A
NM_173596.3
p.A253E
c.758C>A
NM_173596.3
p.S374T
c.1121G>C
NM_173596.3
p.T506M
c.1517C>T
NM_173596.3
p.E49K
c.145G>A