Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_007359.5
p.D243N
c.727G>A
NM_007359.5
p.R245H
c.734G>A
NM_007359.5
p.R350W
c.1048C>T
NM_007359.5
p.P478L
c.1433C>T
NM_007359.5
p.N494H
c.1480A>C
NM_007359.5
p.L617F
c.1849C>T
NM_007359.5
p.A9A
c.27T>G
NM_007359.5
p.D12Y
c.34G>T
NM_007359.5
p.E14K
c.40G>A
NM_007359.5
p.S18C
c.53C>G
NM_007359.5
p.S21L
c.62C>T
NM_007359.5
p.G26S
c.76G>A